#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
PANK4	55229	broad.mit.edu	37	1	2442178	2442178	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:2442178C>G	ENST00000378466.3	-	16	1889	c.1877G>C	c.(1876-1878)gGa>gCa	p.G626A	PANK4_ENST00000435556.3_Missense_Mutation_p.G587A	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	626					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.G626A(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GATGTCTATTCCACTGTTATC	0.532																																						uc001ajm.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3						c.(1876-1878)GGA>GCA		pantothenate kinase 4							138.0	135.0	136.0					1																	2442178		2203	4300	6503	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2442178C>G	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1877G>C	1.37:g.2442178C>G	ENSP00000367727:p.Gly626Ala					PANK4_uc010nza.1_Missense_Mutation_p.G587A	p.G626A	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	16	1886	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	626					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.1877G>C	CCDS42.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690707	0.88735	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.62639	0.01;0.01	5.18	5.18	0.71444	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	M	0.90814	3.15	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	D	0.86694	0.1925	10	0.87932	D	0	-12.5942	17.6623	0.88195	0.0:1.0:0.0:0.0	.	587;626	E9PHT6;Q9NVE7	.;PANK4_HUMAN	A	626;587	ENSP00000367727:G626A;ENSP00000421433:G587A	ENSP00000367727:G626A	G	-	2	0	PANK4	2432038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.083000	0.76859	2.415000	0.81967	0.561000	0.74099	GGA		PASS	0.532	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			5	145	5	145	---	---	---	---
RSC1A1	6248	broad.mit.edu	37	1	15987907	15987907	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:15987907C>T	ENST00000345034.1	+	1	1544	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	515					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)	p.S515L(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCTTTGTCATCCAATTTC	0.418																																						uc010obn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1543-1545)TCA>TTA		regulatory solute carrier protein, family 1,							81.0	69.0	73.0					1																	15987907		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987907C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1544C>T	1.37:g.15987907C>T	ENSP00000341963:p.Ser515Leu						p.S515L	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1544	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	515					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1544C>T	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087567	0.36855	.	.	ENSG00000215695	ENST00000345034	T	0.30448	1.53	5.21	5.21	0.72293	.	0.676473	0.11323	U	0.575875	T	0.31295	0.0792	N	0.19112	0.55	0.09310	N	1	P	0.48016	0.904	P	0.48227	0.571	T	0.23976	-1.0173	10	0.54805	T	0.06	.	15.4771	0.75489	0.0:1.0:0.0:0.0	.	515	Q92681	RSCA1_HUMAN	L	515	ENSP00000341963:S515L	ENSP00000341963:S515L	S	+	2	0	RSC1A1	15860494	0.064000	0.20934	0.019000	0.16419	0.994000	0.84299	2.819000	0.48049	2.416000	0.81992	0.655000	0.94253	TCA		PASS	0.418	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		17	37	17	37	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657																																						uc001azt.2																			11	Substitution - Missense(11)		kidney(7)|endometrium(1)|prostate(1)|lung(1)|central_nervous_system(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(2110-2112)GCC>ACC		ciliary rootlet coiled-coil							20.0	18.0	19.0					1																	17272075		2199	4291	6490	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272075G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2110G>A	1.37:g.17272075G>A	ENSP00000364691:p.Ala704Thr					CROCC_uc009voz.1_Missense_Mutation_p.A467T|CROCC_uc001azu.2_Missense_Mutation_p.A7T	p.A704T	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2179	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	704			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.2110G>A	CCDS30616.1	202	0.0924908424908425	54	0.10975609756097561	27	0.07458563535911603	41	0.07167832167832168	80	0.10554089709762533	g	7.919	0.738064	0.15574	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10668	2.85	5.01	4.1	0.47936	.	.	.	.	.	T	0.00300	0.0009	L	0.47716	1.5	0.30387	N	0.781339	D;P;P	0.57899	0.981;0.952;0.873	P;P;B	0.52554	0.702;0.579;0.439	T	0.02477	-1.1153	9	0.16420	T	0.52	.	13.1749	0.59621	0.0795:0.0:0.9205:0.0	rs2781608;rs3871256;rs3872330	567;7;704	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	T	704;585	ENSP00000364691:A704T	ENSP00000364691:A704T	A	+	1	0	CROCC	17144662	0.999000	0.42202	0.970000	0.41538	0.013000	0.08279	2.720000	0.47252	1.448000	0.47680	-0.215000	0.12644	GCC		PASS	0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	17	3	17	---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17313556	17313556	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:17313556G>A	ENST00000326735.8	-	26	3101	c.3068C>T	c.(3067-3069)aCc>aTc	p.T1023I	ATP13A2_ENST00000452699.1_Missense_Mutation_p.T1018I|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.T979I			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1023					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.T1023I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CTGGGCCAGGGTCAGGAAGTA	0.687																																						uc001baa.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3067-3069)ACC>ATC		ATPase type 13A2 isoform 1							39.0	36.0	37.0					1																	17313556		2203	4299	6502	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17313556G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.3068C>T	1.37:g.17313556G>A	ENSP00000327214:p.Thr1023Ile					ATP13A2_uc001azz.1_Missense_Mutation_p.T170I|ATP13A2_uc001bab.2_Missense_Mutation_p.T1018I|ATP13A2_uc001bac.2_Missense_Mutation_p.T979I	p.T1023I	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	26	3258	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	1023			Extracellular (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.3068C>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426374	0.25726	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	D;D;D;D	0.88896	-2.36;-2.36;-2.36;-2.44	5.11	2.17	0.27698	.	0.341618	0.30859	N	0.008727	T	0.78691	0.4323	N	0.21373	0.66	0.31444	N	0.671642	B;B;B	0.23937	0.034;0.094;0.002	B;B;B	0.25506	0.013;0.061;0.007	T	0.72584	-0.4249	10	0.44086	T	0.13	-8.9894	6.0949	0.20015	0.3253:0.0:0.6747:0.0	.	979;1018;1023	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	I	1023;979;1018;219	ENSP00000327214:T1023I;ENSP00000341115:T979I;ENSP00000413307:T1018I;ENSP00000423065:T219I	ENSP00000327214:T1023I	T	-	2	0	ATP13A2	17186143	0.997000	0.39634	0.158000	0.22627	0.809000	0.45718	2.559000	0.45888	0.540000	0.28808	0.555000	0.69702	ACC		PASS	0.687	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		10	43	10	43	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19447774	19447774	+	Silent	SNP	G	G	A	rs534688684	byFrequency	TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:19447774G>A	ENST00000375254.3	-	68	10077	c.10050C>T	c.(10048-10050)gcC>gcT	p.A3350A	UBR4_ENST00000375217.2_Silent_p.A3343A|UBR4_ENST00000375226.2_Silent_p.A3326A|UBR4_ENST00000375267.2_Silent_p.A3350A|UBR4_ENST00000375218.3_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3350	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A3350A(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCACAGGGGCTGAGGAGG	0.537													G|||	3	0.000599042	0.0	0.0	5008	,	,		14364	0.003		0.0	False		,,,				2504	0.0					uc001bbi.2																			1	Substitution - coding silent(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(10048-10050)GCC>GCT		retinoblastoma-associated factor 600							48.0	54.0	52.0					1																	19447774		2203	4299	6502	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19447774G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10050C>T	1.37:g.19447774G>A						UBR4_uc001bbk.1_Silent_p.A997A	p.A3350A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	68	10054	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3350			Ser-rich.		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.10050C>T	CCDS189.1																																																																																				PASS	0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		13	88	13	88	---	---	---	---
ECE1	1889	broad.mit.edu	37	1	21564678	21564678	+	Silent	SNP	C	C	A	rs199759236		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:21564678C>A	ENST00000374893.6	-	11	1412	c.1338G>T	c.(1336-1338)gcG>gcT	p.A446A	ECE1_ENST00000264205.6_Silent_p.A443A|ECE1_ENST00000415912.2_Silent_p.A430A|ECE1_ENST00000436918.2_Silent_p.A446A|ECE1_ENST00000357071.4_Silent_p.A434A|ECE1_ENST00000528294.1_5'UTR	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	446					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.A446A(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGGGGCCCAACGCAAAGCCCA	0.562																																						uc001bek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1336-1338)GCG>GCT		endothelin converting enzyme 1 isoform 1							99.0	86.0	91.0					1																	21564678		2203	4300	6503	SO:0001819	synonymous_variant	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21564678C>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1338G>T	1.37:g.21564678C>A						ECE1_uc001bem.2_Silent_p.A430A|ECE1_uc001bej.2_Silent_p.A434A|ECE1_uc001bei.2_Silent_p.A443A|ECE1_uc010odl.1_Silent_p.A446A|ECE1_uc009vqa.1_Silent_p.A446A	p.A446A	NM_001397	NP_001388	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	11	1413	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	446			Extracellular (Potential).		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	ENST00000374893.6	37	c.1338G>T	CCDS215.1																																																																																				PASS	0.562	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		9	59	9	59	---	---	---	---
ZNF436	80818	broad.mit.edu	37	1	23689283	23689283	+	Missense_Mutation	SNP	C	C	T	rs186459515		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:23689283C>T	ENST00000314011.4	-	4	728	c.592G>A	c.(592-594)Gag>Aag	p.E198K	ZNF436_ENST00000374608.3_Missense_Mutation_p.E198K	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E198K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTCCCACACTCGTTACAGTCA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		23058	0.001		0.0	False		,,,				2504	0.0					uc001bgt.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(592-594)GAG>AAG		zinc finger protein 436		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	138.0	140.0	139.0		592,592	5.5	1.0	1		139	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF436	NM_001077195.1,NM_030634.2	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	198/471,198/471	23689283	1,13005	2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23689283C>T	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.592G>A	1.37:g.23689283C>T	ENSP00000313582:p.Glu198Lys					ZNF436_uc001bgu.2_Missense_Mutation_p.E198K	p.E198K	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	973	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	198			C2H2-type 3.		Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.592G>A	CCDS233.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.4	4.144097	0.77888	0.0	1.16E-4	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.07327	3.2;3.2;3.2	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.09905	0.0243	L	0.41027	1.25	0.35173	D	0.771723	P	0.50443	0.935	B	0.40329	0.326	T	0.07947	-1.0746	10	0.62326	D	0.03	-32.1507	17.1981	0.86899	0.0:1.0:0.0:0.0	.	198	Q9C0F3	ZN436_HUMAN	K	198	ENSP00000313582:E198K;ENSP00000363737:E198K;ENSP00000363736:E198K	ENSP00000313582:E198K	E	-	1	0	ZNF436	23561870	0.036000	0.19791	0.999000	0.59377	0.988000	0.76386	1.269000	0.33074	2.739000	0.93911	0.655000	0.94253	GAG		PASS	0.423	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		31	182	31	182	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35332772	35332772	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:35332772C>T	ENST00000373347.1	-	11	2866	c.2598G>A	c.(2596-2598)gtG>gtA	p.V866V	DLGAP3_ENST00000235180.4_Silent_p.V866V			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	866					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.V866V(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)				GGAAGGTGGGCACAGGGAACG	0.562																																						uc001byc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2596-2598)GTG>GTA		discs, large (Drosophila) homolog-associated							84.0	94.0	91.0					1																	35332772		2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35332772C>T	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.2598G>A	1.37:g.35332772C>T							p.V866V	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			9	2598	-		Myeloproliferative disorder(586;0.0393)	866					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.2598G>A	CCDS30670.1																																																																																				PASS	0.562	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		9	84	9	84	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39801303	39801303	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:39801303A>G	ENST00000372915.3	+	36	9145	c.9058A>G	c.(9058-9060)Agc>Ggc	p.S3020G	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S3052G|MACF1_ENST00000564288.1_Missense_Mutation_p.S3015G|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1455G|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3020					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S1455G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCATATAAAGAGCCAACCTAG	0.373																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4363-4365)AGC>GGC		microfilament and actin filament cross-linker							70.0	74.0	72.0					1																	39801303		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801303A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9058A>G	1.37:g.39801303A>G	ENSP00000362006:p.Ser3020Gly					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.S1455G	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4494	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3020					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4363A>G		.	.	.	.	.	.	.	.	.	.	A	6.326	0.428299	0.11987	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.72394	-0.65;0.27	5.17	4.07	0.47477	.	0.954300	0.08731	N	0.902027	T	0.52468	0.1736	N	0.12182	0.205	0.20196	N	0.99992	B	0.02656	0.0	B	0.01281	0.0	T	0.37314	-0.9711	10	0.40728	T	0.16	.	8.163	0.31209	0.7295:0.2705:0.0:0.0	.	3020	Q9UPN3	MACF1_HUMAN	G	3020;1455	ENSP00000362006:S3020G;ENSP00000289893:S1455G	ENSP00000289893:S1455G	S	+	1	0	MACF1	39573890	0.006000	0.16342	0.739000	0.30968	0.589000	0.36550	0.375000	0.20518	1.945000	0.56424	0.383000	0.25322	AGC		PASS	0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		11	62	11	62	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39824465	39824465	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:39824465G>A	ENST00000372915.3	+	45	12142	c.12055G>A	c.(12055-12057)Gag>Aag	p.E4019K	MACF1_ENST00000545844.1_Missense_Mutation_p.E1952K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.E4051K|MACF1_ENST00000564288.1_Missense_Mutation_p.E4014K|MACF1_ENST00000361689.2_Missense_Mutation_p.E1952K|MACF1_ENST00000317713.7_Missense_Mutation_p.E1952K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2454K|MACF1_ENST00000539005.1_Missense_Mutation_p.E1952K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4019					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E2454K(1)|p.E1952K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGGCTTGTGAGGCCAACGT	0.512																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(7360-7362)GAG>AAG		microfilament and actin filament cross-linker							76.0	69.0	71.0					1																	39824465		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39824465G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12055G>A	1.37:g.39824465G>A	ENSP00000362006:p.Glu4019Lys					MACF1_uc010ois.1_Missense_Mutation_p.E1952K|MACF1_uc001cda.1_Missense_Mutation_p.E1860K|MACF1_uc001cdc.1_Missense_Mutation_p.E1039K|MACF1_uc001cdb.1_Missense_Mutation_p.E1039K	p.E2454K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		10	7491	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4019			Spectrin 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7360G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.473405	0.84640	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.32	2.42	0.29668	.	0.093543	0.46145	D	0.000316	T	0.63260	0.2496	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;0.997	D;D;D;D	0.97110	0.995;1.0;0.989;0.988	T	0.63184	-0.6694	10	0.87932	D	0	.	10.5547	0.45110	0.211:0.0:0.789:0.0	.	4019;1952;1952;1917	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	K	1952;4019;1952;1952;1952;2454	ENSP00000439537:E1952K;ENSP00000362006:E4019K;ENSP00000354573:E1952K;ENSP00000313438:E1952K;ENSP00000444364:E1952K;ENSP00000289893:E2454K	ENSP00000289893:E2454K	E	+	1	0	MACF1	39597052	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	5.093000	0.64517	0.321000	0.23259	0.655000	0.94253	GAG		PASS	0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		21	73	21	73	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62293228	62293228	+	Silent	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:62293228C>A	ENST00000371158.2	+	16	2067	c.1953C>A	c.(1951-1953)cgC>cgA	p.R651R	INADL_ENST00000316485.6_Silent_p.R651R	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	651					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.R651R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACCAAGGCGCACTGAAACCT	0.458																																						uc001dab.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1951-1953)CGC>CGA		InaD-like							147.0	144.0	145.0					1																	62293228		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62293228C>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1953C>A	1.37:g.62293228C>A						INADL_uc009waf.1_Silent_p.R651R|INADL_uc001daa.2_Silent_p.R651R|INADL_uc001dad.3_Silent_p.R348R|INADL_uc001dac.2_RNA	p.R651R	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			16	2067	+			651					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.1953C>A	CCDS617.2																																																																																				PASS	0.458	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		19	155	19	155	---	---	---	---
SNX7	51375	broad.mit.edu	37	1	99157223	99157223	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:99157223G>T	ENST00000306121.3	+	4	616	c.607G>T	c.(607-609)Gac>Tac	p.D203Y	SNX7_ENST00000529992.1_Intron|SNX7_ENST00000370189.5_Missense_Mutation_p.D139Y	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	139					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.D139Y(1)|p.D203Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		ATTTAATGAAGACTTCAAAAT	0.338																																						uc010ouc.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(607-609)GAC>TAC		sorting nexin 7 isoform a							76.0	77.0	77.0					1																	99157223		2203	4299	6502	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99157223G>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.607G>T	1.37:g.99157223G>T	ENSP00000304429:p.Asp203Tyr					SNX7_uc001dsa.2_Missense_Mutation_p.D139Y|SNX7_uc010oud.1_Intron	p.D203Y	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	4	659	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	139			PX.		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.607G>T	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809601	0.70797	.	.	ENSG00000162627	ENST00000370189;ENST00000306121	T;T	0.39406	1.08;1.08	5.71	5.71	0.89125	.	0.046534	0.85682	D	0.000000	T	0.51176	0.1659	L	0.55017	1.72	0.80722	D	1	D;D	0.71674	0.989;0.998	P;D	0.64321	0.817;0.924	T	0.30679	-0.9970	10	0.33141	T	0.24	-26.9383	19.8476	0.96716	0.0:0.0:1.0:0.0	.	203;139	Q9UNH6-3;Q9UNH6-2	.;.	Y	139;203	ENSP00000359208:D139Y;ENSP00000304429:D203Y	ENSP00000304429:D203Y	D	+	1	0	SNX7	98929811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.137000	0.71710	2.710000	0.92621	0.650000	0.86243	GAC		PASS	0.338	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			5	47	5	47	---	---	---	---
PLPPR5	163404	broad.mit.edu	37	1	99380394	99380394	+	Missense_Mutation	SNP	A	A	G	rs143279943		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:99380394A>G	ENST00000263177.4	-	5	1102	c.881T>C	c.(880-882)aTg>aCg	p.M294T	LPPR5_ENST00000370188.3_Missense_Mutation_p.M294T	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		294						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.M294T(1)									AATGCTGATCATTGGCATCTG	0.358																																						uc001dsb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)ATG>ACG		phosphatidic acid phosphatase type 2d isoform 1		A	THR/MET,THR/MET	0,4406		0,0,2203	165.0	155.0	159.0		881,881	4.8	1.0	1	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LPPR5	NM_001010861.2,NM_001037317.1	81,81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	294/317,294/322	99380394	1,13005	2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99380394A>G																												ENST00000263177.4:c.881T>C	1.37:g.99380394A>G	ENSP00000263177:p.Met294Thr					LPPR5_uc001dsc.2_Missense_Mutation_p.M294T	p.M294T	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			5	1103	-			294					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.881T>C	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	A	3.643	-0.073193	0.07184	0.0	1.16E-4	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.30448	1.55;1.53	5.98	4.85	0.62838	.	0.056650	0.64402	N	0.000002	T	0.09512	0.0234	L	0.46157	1.445	0.31550	N	0.658876	B;B	0.12013	0.004;0.005	B;B	0.11329	0.006;0.004	T	0.28106	-1.0054	10	0.07813	T	0.8	.	12.2332	0.54500	0.8702:0.0:0.1298:0.0	.	294;294	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	T	294	ENSP00000359207:M294T;ENSP00000263177:M294T	ENSP00000263177:M294T	M	-	2	0	AL161744.1	99152982	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	4.218000	0.58554	0.503000	0.28060	-1.162000	0.01777	ATG		PASS	0.358	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			20	106	20	106	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109806324	109806324	+	Silent	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:109806324C>G	ENST00000271332.3	+	9	4987	c.4926C>G	c.(4924-4926)ctC>ctG	p.L1642L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1642	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L1642L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACCTCAGCCTCATGTTCCGCA	0.662											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(4924-4926)CTC>CTG		cadherin EGF LAG seven-pass G-type receptor 2							85.0	81.0	82.0					1																	109806324		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109806324C>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4926C>G	1.37:g.109806324C>G			OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.L1642L	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	9	4987	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1642			Extracellular (Potential).|Laminin G-like 2.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4926C>G	CCDS796.1																																																																																				PASS	0.662	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		15	113	15	113	---	---	---	---
AMPD2	271	broad.mit.edu	37	1	110170496	110170496	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:110170496C>T	ENST00000256578.3	+	9	1573	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	AMPD2_ENST00000358729.4_Missense_Mutation_p.P330S|AMPD2_ENST00000528667.1_Missense_Mutation_p.P405S|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Missense_Mutation_p.P287S|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.P286S|AMPD2_ENST00000342115.4_Missense_Mutation_p.P324S	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	405					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.P405S(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAAGAAAGTGCCACACCGAGA	0.582																																						uc009wfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1213-1215)CCA>TCA		adenosine monophosphate deaminase 2 (isoform L)							73.0	79.0	77.0					1																	110170496		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170496C>T	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1213C>T	1.37:g.110170496C>T	ENSP00000256578:p.Pro405Ser					AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.P324S|AMPD2_uc001dyc.1_Missense_Mutation_p.P405S|AMPD2_uc010ovr.1_Missense_Mutation_p.P330S|AMPD2_uc010ovs.1_Missense_Mutation_p.P287S|AMPD2_uc001dyd.1_Missense_Mutation_p.P286S|AMPD2_uc001dye.1_5'Flank	p.P405S	NM_004037	NP_004028	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1755	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	405					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1213C>T	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.503921|4.503921	0.85176|0.85176	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.91945	.|-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.052882	.|0.85682	.|D	.|0.000000	D|D	0.90212|0.90212	0.6940|0.6940	M|M	0.83692|0.83692	2.655|2.655	0.51012|0.51012	D|D	0.999903|0.999903	.|P;P;B;P	.|0.38455	.|0.631;0.632;0.084;0.632	.|B;B;B;B	.|0.35073	.|0.066;0.195;0.045;0.195	D|D	0.90838|0.90838	0.4721|0.4721	5|10	.|0.45353	.|T	.|0.12	-9.5637|-9.5637	17.7564|17.7564	0.88450|0.88450	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|330;286;405;324	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	V|S	375|324;405;405;330;287;286	.|ENSP00000345498:P324S;ENSP00000436541:P405S;ENSP00000256578:P405S;ENSP00000351573:P330S;ENSP00000437164:P287S;ENSP00000377292:P286S	.|ENSP00000256578:P405S	A|P	+|+	2|1	0|0	AMPD2|AMPD2	109972019|109972019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.790000|5.790000	0.69038|0.69038	2.740000|2.740000	0.93945|0.93945	0.556000|0.556000	0.70494|0.70494	GCC|CCA		PASS	0.582	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			4	92	4	92	---	---	---	---
TMOD4	29765	broad.mit.edu	37	1	151146054	151146054	+	Intron	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:151146054T>C	ENST00000416280.2	-	3	380				TMOD4_ENST00000601585.1_5'Flank			Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)						muscle contraction (GO:0006936)	striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.A106A(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCTCCTCTGCTGGGATTT	0.547																																						uc001exc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(316-318)GCA>GCG		tropomodulin 4 (muscle)							147.0	134.0	139.0					1																	151146054		2203	4300	6503	SO:0001627	intron_variant	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151146054T>C	AF177173	CCDS988.1	1q12	2008-05-23			ENSG00000163157	ENSG00000163157			11874	protein-coding gene	gene with protein product	"""actin-capping protein"""	605834				10662549, 10497209	Standard	NM_013353		Approved	Sk-Tmod	uc001exc.4	Q9NZQ9	OTTHUMG00000012350	ENST00000416280.2:c.280+812A>G	1.37:g.151146054T>C						TMOD4_uc001exb.2_5'Flank|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Intron	p.A106A	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	508	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		106					B7Z6N9|Q5JR83|Q8WVL3|Q9UKH2	Silent	SNP	ENST00000416280.2	37	c.318A>G																																																																																					PASS	0.547	TMOD4-201	KNOWN	basic	protein_coding	protein_coding				20	150	20	150	---	---	---	---
CD244	51744	broad.mit.edu	37	1	160811111	160811111	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:160811111C>G	ENST00000368033.3	-	3	641	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	CD244_ENST00000368032.2_Missense_Mutation_p.E182Q|CD244_ENST00000322302.7_Intron|CD244_ENST00000368034.4_Missense_Mutation_p.E182Q|CD244_ENST00000481677.1_5'Flank			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	187	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E182Q(1)|p.E187Q(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCAACCTCCTCGTCCAGGTAG	0.517																																						uc009wtq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(559-561)GAG>CAG		CD244 natural killer cell receptor 2B4							253.0	201.0	218.0					1																	160811111		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811111C>G	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.559G>C	1.37:g.160811111C>G	ENSP00000357012:p.Glu187Gln					CD244_uc001fxa.2_Missense_Mutation_p.E182Q|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_RNA	p.E187Q	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	737	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		187			Extracellular (Potential).|Ig-like 2.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.559G>C	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	8.681	0.905090	0.17760	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	T;T;T	0.37915	1.17;1.17;1.17	4.58	-2.52	0.06346	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.837980	0.01272	N	0.009494	T	0.05731	0.0150	N	0.13043	0.29	0.09310	N	1	B;B	0.31817	0.214;0.341	B;B	0.31686	0.134;0.089	T	0.06734	-1.0810	10	0.10111	T	0.7	-27.0215	4.8241	0.13407	0.1341:0.2173:0.5455:0.1031	.	187;182	Q9BZW8;Q9BZW8-2	CD244_HUMAN;.	Q	182;187;182	ENSP00000357013:E182Q;ENSP00000357012:E187Q;ENSP00000357011:E182Q	ENSP00000357011:E182Q	E	-	1	0	CD244	159077735	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.359000	0.07632	-0.149000	0.11215	0.543000	0.68304	GAG		PASS	0.517	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		10	187	10	187	---	---	---	---
PBX1	5087	broad.mit.edu	37	1	164789349	164789349	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:164789349G>T	ENST00000420696.2	+	7	1226	c.1038G>T	c.(1036-1038)ttG>ttT	p.L346F	PBX1_ENST00000560641.1_Missense_Mutation_p.L241F|PBX1_ENST00000540236.1_Missense_Mutation_p.L346F|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.L241F	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	346					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L346F(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTGGAGATTTGTTCATGAGCG	0.498			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	uc001gct.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|lung(1)|skin(1)	5						c.(1036-1038)TTG>TTT		pre-B-cell leukemia homeobox 1							90.0	89.0	90.0					1																	164789349		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164789349G>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1038G>T	1.37:g.164789349G>T	ENSP00000405890:p.Leu346Phe					PBX1_uc010pku.1_Missense_Mutation_p.L346F|PBX1_uc010pkv.1_Missense_Mutation_p.L263F|PBX1_uc001gcs.2_Intron|PBX1_uc010pkw.1_Missense_Mutation_p.L236F	p.L346F	NM_002585	NP_002576	P40424	PBX1_HUMAN			7	1296	+			346					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.1038G>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860891	0.71834	.	.	ENSG00000185630	ENST00000420696;ENST00000540236;ENST00000540246	D;D;D	0.89196	-2.41;-2.38;-2.48	5.61	5.61	0.85477	.	0.068545	0.64402	N	0.000009	D	0.85720	0.5762	L	0.40543	1.245	.	.	.	B;P;P;P	0.51791	0.286;0.585;0.948;0.715	B;B;P;B	0.48141	0.09;0.211;0.568;0.288	D	0.85848	0.1402	9	0.45353	T	0.12	-7.0879	19.237	0.93864	0.0:0.0:1.0:0.0	.	241;346;346;346	B7Z774;A8K5V0;F5H4U9;P40424	.;.;.;PBX1_HUMAN	F	346;346;241	ENSP00000405890:L346F;ENSP00000439943:L346F;ENSP00000440869:L241F	ENSP00000405890:L346F	L	+	3	2	PBX1	163055973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.338000	0.96553	2.640000	0.89533	0.655000	0.94253	TTG		PASS	0.498	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		7	86	7	86	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176915252	176915252	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:176915252T>G	ENST00000367654.3	-	13	2294	c.2083A>C	c.(2083-2085)Atc>Ctc	p.I695L	ASTN1_ENST00000424564.2_Missense_Mutation_p.I687L|ASTN1_ENST00000367657.3_Missense_Mutation_p.I687L|ASTN1_ENST00000361833.2_Missense_Mutation_p.I687L|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	695	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.I687L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TAGTCCTCGATGCACCTAGCA	0.512																																						uc001glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2059-2061)ATC>CTC		astrotactin isoform 1							91.0	79.0	83.0					1																	176915252		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915252T>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2083A>C	1.37:g.176915252T>G	ENSP00000356626:p.Ile695Leu					ASTN1_uc001glb.1_Missense_Mutation_p.I687L|ASTN1_uc001gld.1_Missense_Mutation_p.I687L|ASTN1_uc009wwx.1_Missense_Mutation_p.I687L	p.I687L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2271	-			695			EGF-like 3.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2059A>C		.	.	.	.	.	.	.	.	.	.	T	21.8	4.201331	0.79015	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	N	0.24115	0.695	0.80722	D	1	P;P;P	0.51147	0.942;0.65;0.65	D;P;P	0.64595	0.927;0.743;0.743	D	0.95319	0.8419	10	0.44086	T	0.13	-22.4154	15.1049	0.72312	0.0:0.0:0.0:1.0	.	695;687;687	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	687;687;695;687;687	ENSP00000356629:I687L;ENSP00000354536:I687L;ENSP00000356626:I695L;ENSP00000395041:I687L	ENSP00000354536:I687L	I	-	1	0	ASTN1	175181875	1.000000	0.71417	0.997000	0.53966	0.592000	0.36648	5.671000	0.68095	2.053000	0.61076	0.533000	0.62120	ATC		PASS	0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	98	7	98	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178433416	178433416	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:178433416C>G	ENST00000462775.1	+	13	2958	c.2833C>G	c.(2833-2835)Cag>Gag	p.Q945E	RASAL2_ENST00000448150.3_Missense_Mutation_p.Q1075E|RASAL2_ENST00000367649.3_Missense_Mutation_p.Q1086E	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	945					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.Q945E(1)|p.Q1075E(1)|p.Q1086E(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GATGCAGGTTCAGTCACCTGT	0.468																																						uc001glr.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(2833-2835)CAG>GAG		RAS protein activator like 2 isoform 1							89.0	82.0	84.0					1																	178433416		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178433416C>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2833C>G	1.37:g.178433416C>G	ENSP00000420558:p.Gln945Glu					RASAL2_uc001glq.2_Missense_Mutation_p.Q1086E|RASAL2_uc009wxc.2_Missense_Mutation_p.Q459E	p.Q945E	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			13	2958	+			945					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.2833C>G	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.366|7.366	0.625797|0.625797	0.14257|0.14257	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.19806|.	2.13;2.12;2.14|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.939015|.	0.09049|.	N|.	0.856161|.	T|.	0.71846|.	0.3388|.	L|L	0.55481|0.55481	1.735|1.735	0.44635|0.44635	D|D	0.997615|0.997615	B;B;B|.	0.24823|.	0.017;0.112;0.091|.	B;B;B|.	0.22753|.	0.025;0.041;0.036|.	T|.	0.68557|.	-0.5377|.	10|.	0.38643|.	T|.	0.18|.	.|.	19.3583|19.3583	0.94424|0.94424	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1075;945;1086|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	E|X	1075;1086;945|495	ENSP00000407768:Q1075E;ENSP00000356621:Q1086E;ENSP00000420558:Q945E|.	ENSP00000356621:Q1086E|.	Q|S	+|+	1|2	0|0	RASAL2|RASAL2	176700039|176700039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.553000|4.553000	0.60753|0.60753	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.468	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		11	60	11	60	---	---	---	---
TOR1AIP2	163590	broad.mit.edu	37	1	179815858	179815858	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:179815858G>A	ENST00000367612.3	-	6	1148	c.761C>T	c.(760-762)gCc>gTc	p.A254V	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.A254V	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	114								p.A254V(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGCCAAAAAGGCCTCCAAAGC	0.493																																						uc001gnk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(760-762)GCC>GTC		torsin A interacting protein 2							52.0	59.0	56.0					1																	179815858		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179815858G>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.761C>T	1.37:g.179815858G>A	ENSP00000356584:p.Ala254Val					TOR1AIP2_uc001gnl.2_Missense_Mutation_p.A254V	p.A254V	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN			6	1149	-			254					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.761C>T	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345076	0.61073	.	.	ENSG00000169905	ENST00000367612	T	0.24723	1.84	5.48	5.48	0.80851	.	0.311435	0.30227	N	0.010112	T	0.45975	0.1369	L	0.52573	1.65	0.35727	D	0.817583	D	0.55800	0.973	D	0.63793	0.918	T	0.51132	-0.8744	10	0.52906	T	0.07	-9.4893	18.966	0.92697	0.0:0.0:1.0:0.0	.	254	Q8NFQ8	TOIP2_HUMAN	V	254	ENSP00000356584:A254V	ENSP00000356584:A254V	A	-	2	0	TOR1AIP2	178082481	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.198000	0.65147	2.576000	0.86940	0.655000	0.94253	GCC		PASS	0.493	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		35	101	35	101	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183507541	183507541	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:183507541T>A	ENST00000347615.2	+	12	1380	c.1261T>A	c.(1261-1263)Tta>Ata	p.L421I	SMG7_ENST00000508461.1_Missense_Mutation_p.L379I|SMG7_ENST00000367537.3_Missense_Mutation_p.L450I|SMG7_ENST00000515829.2_Missense_Mutation_p.L421I|SMG7_ENST00000507469.1_Missense_Mutation_p.L421I|SMG7_ENST00000456731.2_Missense_Mutation_p.L379I	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	421					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.L421I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GGAGTTTGAATTACAAGGATT	0.343																																						uc001gqg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1261-1263)TTA>ATA		SMG-7 homolog isoform 1							176.0	173.0	174.0					1																	183507541		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183507541T>A	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1261T>A	1.37:g.183507541T>A	ENSP00000340766:p.Leu421Ile					SMG7_uc010pob.1_Missense_Mutation_p.L450I|SMG7_uc001gqf.2_Missense_Mutation_p.L421I|SMG7_uc001gqh.2_Missense_Mutation_p.L421I|SMG7_uc001gqi.2_Missense_Mutation_p.L379I|SMG7_uc010poc.1_Missense_Mutation_p.L379I	p.L421I	NM_173156	NP_775179	Q92540	SMG7_HUMAN			12	1383	+			421					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1261T>A	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002889	0.74932	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.04	1.21	0.21127	.	0.000000	0.64402	D	0.000005	T	0.58793	0.2147	M	0.75615	2.305	0.50171	D	0.999857	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.994;0.997;0.994;0.998;0.998	T	0.55768	-0.8089	10	0.62326	D	0.03	-4.8221	8.6096	0.33795	0.0:0.2979:0.0:0.7021	.	379;450;379;421;421;421	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	379;450;379;379;421;421;421	ENSP00000407629:L379I;ENSP00000356507:L450I;ENSP00000426915:L379I;ENSP00000388390:L379I;ENSP00000340766:L421I;ENSP00000425133:L421I;ENSP00000421358:L421I	ENSP00000340766:L421I	L	+	1	2	SMG7	181774164	1.000000	0.71417	0.960000	0.40013	0.989000	0.77384	1.202000	0.32271	-0.056000	0.13221	0.455000	0.32223	TTA		PASS	0.343	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		39	164	39	164	---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204237406	204237406	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:204237406C>A	ENST00000272203.3	-	4	453	c.137G>T	c.(136-138)gGc>gTc	p.G46V	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G46V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	46								p.G46V(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGAGCGCTTGCCAAAGGCGAC	0.607																																						uc001hau.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(136-138)GGC>GTC		phosphoinositol 3-phosphate-binding protein-3							102.0	85.0	91.0					1																	204237406		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204237406C>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.137G>T	1.37:g.204237406C>A	ENSP00000272203:p.Gly46Val						p.G46V	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		4	454	-	all_cancers(21;0.0222)|Breast(84;0.179)		46					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.137G>T	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874848	0.91664	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.12255	2.7;2.7	5.67	5.67	0.87782	.	0.106751	0.64402	D	0.000005	T	0.33847	0.0877	M	0.84683	2.71	0.80722	D	1	D	0.56746	0.977	P	0.49637	0.617	T	0.29518	-1.0009	10	0.87932	D	0	-31.9154	19.3649	0.94458	0.0:1.0:0.0:0.0	.	46	Q9Y2H5	PKHA6_HUMAN	V	46	ENSP00000272203:G46V;ENSP00000402046:G46V	ENSP00000272203:G46V	G	-	2	0	PLEKHA6	202504029	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.452000	0.73485	2.659000	0.90383	0.655000	0.94253	GGC		PASS	0.607	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		7	59	7	59	---	---	---	---
DTL	51514	broad.mit.edu	37	1	212273994	212273994	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:212273994G>C	ENST00000366991.4	+	14	1976	c.1662G>C	c.(1660-1662)agG>agC	p.R554S	RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.R512S	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	554					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R554S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TAAAGAGGAGGCTAGACTCAA	0.448																																						uc009xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1660-1662)AGG>AGC		denticleless homolog							93.0	94.0	94.0					1																	212273994		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212273994G>C	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1662G>C	1.37:g.212273994G>C	ENSP00000355958:p.Arg554Ser					DTL_uc010ptb.1_Missense_Mutation_p.R512S|DTL_uc001hiz.3_Missense_Mutation_p.R283S	p.R554S	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	14	1976	+			554					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.1662G>C	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254523	0.59212	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	D;D	0.81908	-1.51;-1.55	5.95	4.05	0.47172	.	0.083880	0.85682	D	0.000000	D	0.86997	0.6068	L	0.59436	1.845	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	D	0.85331	0.1090	10	0.59425	D	0.04	-21.196	6.3554	0.21398	0.0694:0.1285:0.6607:0.1414	.	512;554;512	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	S	554;512;233	ENSP00000355958:R554S;ENSP00000443870:R512S	ENSP00000355958:R554S	R	+	3	2	DTL	210340617	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.254000	0.18314	0.811000	0.34303	0.655000	0.94253	AGG		PASS	0.448	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		12	111	12	111	---	---	---	---
RAB4A	5867	broad.mit.edu	37	1	229424565	229424565	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:229424565G>T	ENST00000366690.4	+	3	410	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	RAB4A_ENST00000473894.1_Intron	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	68					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)	p.D68Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				ACAAATATGGGATACAGCAGG	0.264																																					Esophageal Squamous(11;250 603 9619 16563)	uc001hth.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(202-204)GAT>TAT		RAB4A, member RAS oncogene family							75.0	81.0	79.0					1																	229424565		2203	4297	6500	SO:0001583	missense	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229424565G>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.202G>T	1.37:g.229424565G>T	ENSP00000355651:p.Asp68Tyr					RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_Intron	p.D68Y	NM_004578	NP_004569	P20338	RAB4A_HUMAN			3	410	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	63			GTP.		Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	37	c.202G>T	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	g	23.1	4.377020	0.82682	.	.	ENSG00000168118	ENST00000366690	D	0.93859	-3.3	5.34	4.4	0.53042	Small GTP-binding protein domain (1);	0.153803	0.56097	D	0.000027	D	0.98413	0.9472	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99838	1.1059	10	0.87932	D	0	.	16.2705	0.82616	0.0:0.1327:0.8673:0.0	.	63	P20338	RAB4A_HUMAN	Y	68	ENSP00000355651:D68Y	ENSP00000355651:D68Y	D	+	1	0	RAB4A	227491188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.321000	0.96353	1.582000	0.49881	0.651000	0.88453	GAT		PASS	0.264	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		13	119	13	119	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242042620	242042620	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:242042620G>A	ENST00000366548.3	+	13	2677	c.2084G>A	c.(2083-2085)tGc>tAc	p.C695Y	EXO1_ENST00000518483.1_Missense_Mutation_p.C695Y|EXO1_ENST00000348581.5_Missense_Mutation_p.C695Y	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	695	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.C695Y(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTTTCTCAGTGCTCTAGTAAG	0.393								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(2083-2085)TGC>TAC	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							38.0	41.0	40.0					1																	242042620		2188	4296	6484	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042620G>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2084G>A	1.37:g.242042620G>A	ENSP00000355506:p.Cys695Tyr					EXO1_uc001hzi.2_Missense_Mutation_p.C695Y|EXO1_uc001hzj.2_Missense_Mutation_p.C695Y|EXO1_uc009xgq.2_Missense_Mutation_p.C694Y	p.C695Y	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2624	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	695			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2084G>A	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	5.173	0.217440	0.09810	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.32023	1.47;1.47;1.47	5.16	1.6	0.23607	.	0.777712	0.12289	N	0.482157	T	0.13670	0.0331	N	0.08118	0	0.21325	N	0.999727	B;B;B	0.20671	0.022;0.047;0.022	B;B;B	0.27380	0.026;0.079;0.026	T	0.22800	-1.0206	10	0.48119	T	0.1	-22.0011	0.8968	0.01265	0.2145:0.3783:0.2212:0.1861	.	694;695;695	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	Y	695	ENSP00000355506:C695Y;ENSP00000311873:C695Y;ENSP00000430251:C695Y	ENSP00000311873:C695Y	C	+	2	0	EXO1	240109243	0.254000	0.23992	0.954000	0.39281	0.002000	0.02628	0.778000	0.26732	0.638000	0.30545	-0.153000	0.13522	TGC		PASS	0.393	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		9	80	9	80	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248366988	248366988	+	Missense_Mutation	SNP	A	A	C	rs142664129	byFrequency	TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:248366988A>C	ENST00000456743.1	+	1	657	c.619A>C	c.(619-621)Att>Ctt	p.I207L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I207L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			TATAGTAATGATTGTTTTCCC	0.423													A|||	2	0.000399361	0.0008	0.0	5008	,	,		22545	0.0		0.0	False		,,,				2504	0.001					uc010pzg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(619-621)ATT>CTT		olfactory receptor, family 2, subfamily M,		A	LEU/ILE	1,4405	2.1+/-5.4	0,1,2202	275.0	270.0	271.0		619	-5.1	0.0	1	dbSNP_134	271	0,8600		0,0,4300	no	missense	OR2M3	NM_001004689.1	5	0,1,6502	CC,CA,AA		0.0,0.0227,0.0077	benign	207/313	248366988	1,13005	2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366988A>C		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.619A>C	1.37:g.248366988A>C	ENSP00000389625:p.Ile207Leu						p.I207L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	619	+	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)		207			Helical; Name=5; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.619A>C	CCDS31107.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	a	0.004	-2.319805	0.00232	2.27E-4	0.0	ENSG00000228198	ENST00000456743	T	0.36157	1.27	2.54	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	0.277746	0.19013	U	0.125033	T	0.07369	0.0186	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14254	-1.0479	10	0.02654	T	1	.	2.2767	0.04104	0.5077:0.24:0.1178:0.1345	.	207	Q8NG83	OR2M3_HUMAN	L	207	ENSP00000389625:I207L	ENSP00000389625:I207L	I	+	1	0	OR2M3	246433611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.657000	0.00202	-3.086000	0.00249	-0.828000	0.03084	ATT		PASS	0.423	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		89	254	89	254	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487074	248487074	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr1:248487074T>G	ENST00000317965.2	-	1	825	c.797A>C	c.(796-798)cAt>cCt	p.H266P		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H266P(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CATAGGAGAATGATGAGATGT	0.473																																						uc010pzk.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(796-798)CAT>CCT		olfactory receptor, family 2, subfamily M,							151.0	136.0	141.0					1																	248487074		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487074T>G	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.797A>C	1.37:g.248487074T>G	ENSP00000324557:p.His266Pro						p.H266P	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	797	-	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)		266			Extracellular (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.797A>C	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	T	0.143	-1.100008	0.01843	.	.	ENSG00000177186	ENST00000317965	T	0.00123	8.7	1.55	-3.11	0.05299	GPCR, rhodopsin-like superfamily (1);	1.612520	0.04385	U	0.361495	T	0.00300	0.0009	M	0.79011	2.435	0.09310	N	1	B	0.33171	0.4	P	0.46208	0.507	T	0.14448	-1.0472	10	0.72032	D	0.01	.	5.8804	0.18852	0.0:0.1852:0.1938:0.6209	.	266	Q8NG81	OR2M7_HUMAN	P	266	ENSP00000324557:H266P	ENSP00000324557:H266P	H	-	2	0	OR2M7	246553697	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-1.348000	0.02629	-1.251000	0.02494	-1.140000	0.01884	CAT		PASS	0.473	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		18	150	18	150	---	---	---	---
APOB	338	broad.mit.edu	37	2	21230157	21230157	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:21230157C>G	ENST00000233242.1	-	26	9710	c.9583G>C	c.(9583-9585)Gag>Cag	p.E3195Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3195	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E3195Q(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGATAAACTCACAAAGCACA	0.328																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9583-9585)GAG>CAG		apolipoprotein B precursor	Atorvastatin(DB01076)						60.0	58.0	59.0					2																	21230157		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230157C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9583G>C	2.37:g.21230157C>G	ENSP00000233242:p.Glu3195Gln						p.E3195Q	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9711	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3195			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9583G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	5.261	0.233678	0.09969	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.37752	1.18	5.3	2.55	0.30701	.	0.742000	0.12265	N	0.484400	T	0.38374	0.1038	M	0.76170	2.325	0.19575	N	0.999965	B	0.33883	0.43	B	0.36335	0.222	T	0.30707	-0.9969	10	0.51188	T	0.08	.	6.6477	0.22945	0.0:0.6561:0.1288:0.2151	.	3195	P04114	APOB_HUMAN	Q	3195	ENSP00000233242:E3195Q	ENSP00000233242:E3195Q	E	-	1	0	APOB	21083662	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	-0.067000	0.11579	0.243000	0.21327	-0.251000	0.11542	GAG		PASS	0.328	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			17	54	17	54	---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	31010096	31010096	+	Silent	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:31010096G>T	ENST00000295055.8	-	2	272	c.96C>A	c.(94-96)ggC>ggA	p.G32G	CAPN13_ENST00000534090.2_Silent_p.G32G|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	32					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.G32G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAAACGTCCGGCCCATGCTCA	0.527																																						uc002rnn.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(94-96)GGC>GGA		calpain 13							47.0	48.0	48.0					2																	31010096		1981	4159	6140	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:31010096G>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.96C>A	2.37:g.31010096G>T						CAPN13_uc002rnp.1_Silent_p.G32G	p.G32G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			2	272	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		32					Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.96C>A	CCDS46252.1																																																																																				PASS	0.527	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		5	33	5	33	---	---	---	---
THUMPD2	80745	broad.mit.edu	37	2	39971520	39971520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:39971520C>A	ENST00000505747.1	-	9	1204	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	THUMPD2_ENST00000260619.6_Nonsense_Mutation_p.E363*	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	393							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.E363*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTTTCCATTTCTTGTAGAATG	0.313																																						uc002rru.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1177-1179)GAA>TAA		THUMP domain containing 2							47.0	50.0	49.0					2																	39971520		2201	4293	6494	SO:0001587	stop_gained	80745						methyltransferase activity	g.chr2:39971520C>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.1177G>T	2.37:g.39971520C>A	ENSP00000423933:p.Glu393*					THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Nonsense_Mutation_p.E284*	p.E393*	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN			9	1214	-		all_hematologic(82;0.248)	393					A8K7I7|Q53TT8|Q53TV0	Nonsense_Mutation	SNP	ENST00000505747.1	37	c.1177G>T	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	C	38	7.050779	0.98029	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0335	0.71725	0.0:1.0:0.0:0.0	.	.	.	.	X	393;363	.	.	E	-	1	0	THUMPD2	39825024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.891000	0.63185	2.616000	0.88540	0.650000	0.86243	GAA		PASS	0.313	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		4	40	4	40	---	---	---	---
STON1	11037	broad.mit.edu	37	2	48808750	48808750	+	Silent	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:48808750A>T	ENST00000406226.1	+	3	1173	c.978A>T	c.(976-978)ccA>ccT	p.P326P	STON1_ENST00000309835.3_Silent_p.P326P|STON1_ENST00000404752.1_Silent_p.P326P|STON1-GTF2A1L_ENST00000394754.1_Silent_p.P326P|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P326P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P326P|STON1-GTF2A1L_ENST00000394751.3_Silent_p.P326P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P326P	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	326	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.P326P(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCTTGATCCATATTGTAGGC	0.368																																						uc010yol.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(976-978)CCA>CCT		stonin 1							95.0	102.0	100.0					2																	48808750		2203	4299	6502	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48808750A>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.978A>T	2.37:g.48808750A>T						STON1_uc002rwo.3_Silent_p.P326P|STON1_uc010fbm.2_Silent_p.P326P|STON1-GTF2A1L_uc002rwp.1_Silent_p.P326P|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.P326P	p.P326P	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1025	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	326					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.978A>T	CCDS1841.1																																																																																				PASS	0.368	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		16	144	16	144	---	---	---	---
XPO1	7514	broad.mit.edu	37	2	61706014	61706014	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:61706014G>C	ENST00000401558.2	-	25	3884	c.3157C>G	c.(3157-3159)Caa>Gaa	p.Q1053E	XPO1_ENST00000406957.1_Missense_Mutation_p.Q1053E|XPO1_ENST00000404992.2_Missense_Mutation_p.Q1053E|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1053					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.Q1053E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ACAGACATTTGACGTTTATGT	0.388			Mis		CLL																																	uc002sbj.2			-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(3157-3159)CAA>GAA		exportin 1							158.0	156.0	156.0					2																	61706014		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61706014G>C	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.3157C>G	2.37:g.61706014G>C	ENSP00000384863:p.Gln1053Glu					XPO1_uc010fcl.2_Missense_Mutation_p.Q1049E|XPO1_uc010ypn.1_Missense_Mutation_p.Q1049E|XPO1_uc002sbk.2_Missense_Mutation_p.Q614E|XPO1_uc002sbg.2_Missense_Mutation_p.Q250E|XPO1_uc002sbh.2_Missense_Mutation_p.Q700E	p.Q1053E	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		25	3885	-			1053					A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.3157C>G	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265853	0.23136	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.78637	2.42	0.80722	D	1	P;B	0.35807	0.522;0.334	B;B	0.24974	0.057;0.013	T	0.63310	-0.6666	9	0.02654	T	1	-12.5779	19.8731	0.96858	0.0:0.0:1.0:0.0	.	700;1053	B3KWD0;O14980	.;XPO1_HUMAN	E	1053	.	ENSP00000384863:Q1053E	Q	-	1	0	XPO1	61559518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.824000	0.99380	2.690000	0.91761	0.655000	0.94253	CAA		PASS	0.388	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		11	89	11	89	---	---	---	---
EGR4	1961	broad.mit.edu	37	2	73519557	73519557	+	Silent	SNP	A	A	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:73519557A>G	ENST00000545030.1	-	2	872	c.798T>C	c.(796-798)ccT>ccC	p.P266P	EGR4_ENST00000436467.2_Silent_p.P163P	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	266	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P163P(1)|p.P266P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CACCCGCGCAAGGCGAGGCCT	0.726																																						uc010yrj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(796-798)CCT>CCC		early growth response 4							8.0	11.0	10.0					2																	73519557		2166	4250	6416	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519557A>G		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.798T>C	2.37:g.73519557A>G						EGR4_uc010yrk.1_Silent_p.P265P	p.P266P	NM_001965	NP_001956	Q05215	EGR4_HUMAN			2	873	-			162					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.798T>C	CCDS1925.2																																																																																				PASS	0.726	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		8	16	8	16	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98804508	98804508	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:98804508G>A	ENST00000477737.1	+	10	1586	c.1382G>A	c.(1381-1383)aGc>aAc	p.S461N	VWA3B_ENST00000451075.2_Missense_Mutation_p.S311N|VWA3B_ENST00000435344.1_Missense_Mutation_p.S461N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	461								p.S461N(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGATGGGAGCTTGGTCCAC	0.498																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(1381-1383)AGC>AAC		von Willebrand factor A domain containing 3B							106.0	109.0	109.0					2																	98804508		1971	4168	6139	SO:0001583	missense	200403							g.chr2:98804508G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1382G>A	2.37:g.98804508G>A	ENSP00000417955:p.Ser461Asn					VWA3B_uc010yvh.1_Missense_Mutation_p.S311N|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.S461N|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.S118N	p.S461N	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			10	1646	+			461					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1382G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134868	0.37728	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.23754	1.89;3.28;2.45	4.76	3.81	0.43845	.	0.202809	0.33938	N	0.004419	T	0.40719	0.1128	L	0.49350	1.555	0.21967	N	0.999442	P;D;P	0.76494	0.787;0.999;0.82	B;D;P	0.66196	0.322;0.942;0.525	T	0.09509	-1.0671	10	0.66056	D	0.02	.	11.8272	0.52273	0.0:0.3574:0.6426:0.0	.	311;461;461	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	N	461;461;311	ENSP00000401959:S461N;ENSP00000417955:S461N;ENSP00000389463:S311N	ENSP00000388158:S461N	S	+	2	0	VWA3B	98170940	0.999000	0.42202	1.000000	0.80357	0.591000	0.36615	2.584000	0.46102	2.336000	0.79503	0.460000	0.39030	AGC		PASS	0.498	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		9	91	9	91	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125627272	125627272	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:125627272C>T	ENST00000431078.1	+	21	3730	c.3366C>T	c.(3364-3366)ctC>ctT	p.L1122L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1122	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L1122L(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)		AACTTCGACTCAGTTATAACT	0.453																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(3364-3366)CTC>CTT		contactin associated protein-like 5 precursor							70.0	68.0	69.0					2																	125627272		1905	4136	6041	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125627272C>T	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.3366C>T	2.37:g.125627272C>T						CNTNAP5_uc010flu.2_Silent_p.L1123L	p.L1122L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	21	3730	+			1122			Extracellular (Potential).|Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3366C>T	CCDS46401.1																																																																																				PASS	0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	41	6	41	---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165542495	165542495	+	Silent	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:165542495G>C	ENST00000392717.2	-	15	3580	c.3576C>G	c.(3574-3576)ctC>ctG	p.L1192L	SNORA70F_ENST00000384142.1_RNA|COBLL1_ENST00000409184.3_Silent_p.L1154L|COBLL1_ENST00000194871.6_Silent_p.L1221L|COBLL1_ENST00000342193.4_Silent_p.L1154L|COBLL1_ENST00000375458.2_Silent_p.L1116L			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1192						extracellular vesicular exosome (GO:0070062)		p.L1154L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGAATGGCTGAGTCTTGACC	0.438																																						uc010zcw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3661-3663)CTC>CTG		COBL-like 1							151.0	121.0	131.0					2																	165542495		2203	4300	6503	SO:0001819	synonymous_variant	22837							g.chr2:165542495G>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3576C>G	2.37:g.165542495G>C						COBLL1_uc002ucp.2_Silent_p.L1154L|COBLL1_uc002ucq.2_Silent_p.L1116L|COBLL1_uc010zcx.1_Silent_p.L1162L|COBLL1_uc002ucn.2_Silent_p.L582L|COBLL1_uc002uco.2_Silent_p.L885L	p.L1221L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			17	3787	-			1192					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37	c.3663C>G																																																																																					PASS	0.438	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		8	82	8	82	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170493071	170493071	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:170493071G>A	ENST00000260970.3	+	14	1523	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	PPIG_ENST00000409714.3_Missense_Mutation_p.E420K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Missense_Mutation_p.E435K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	435					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.E435K(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TAACAGCAAAGAGAGAGACAT	0.323																																						uc002uez.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1303-1305)GAG>AAG		peptidylprolyl isomerase G	L-Proline(DB00172)						50.0	51.0	51.0					2																	170493071		2190	4281	6471	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493071G>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1303G>A	2.37:g.170493071G>A	ENSP00000260970:p.Glu435Lys					PPIG_uc010fpx.2_Missense_Mutation_p.E420K|PPIG_uc010fpy.2_Missense_Mutation_p.E428K|PPIG_uc002ufb.2_Missense_Mutation_p.E435K|PPIG_uc002ufd.2_Missense_Mutation_p.E432K	p.E435K	NM_004792	NP_004783	Q13427	PPIG_HUMAN			14	1523	+			435					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.1303G>A	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478849	0.63849	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000448752	T;T;T;T	0.22945	2.41;1.93;2.42;2.41	5.92	5.92	0.95590	.	0.277520	0.40818	N	0.001020	T	0.19127	0.0459	N	0.19112	0.55	0.80722	D	1	B;B;P;B	0.49090	0.189;0.247;0.919;0.247	B;B;B;B	0.39465	0.081;0.057;0.3;0.057	T	0.02444	-1.1158	10	0.21014	T	0.42	-4.8071	20.3206	0.98668	0.0:0.0:1.0:0.0	.	428;420;420;435	C9JM79;E9PG73;Q2NKQ6;Q13427	.;.;.;PPIG_HUMAN	K	435;435;428;420;435	ENSP00000260970:E435K;ENSP00000408683:E428K;ENSP00000386245:E420K;ENSP00000407083:E435K	ENSP00000260970:E435K	E	+	1	0	PPIG	170201317	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.099000	0.94207	2.809000	0.96659	0.655000	0.94253	GAG		PASS	0.323	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			5	45	5	45	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179494076	179494076	+	Missense_Mutation	SNP	G	G	C	rs564820606		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:179494076G>C	ENST00000591111.1	-	190	39677	c.39453C>G	c.(39451-39453)atC>atG	p.I13151M	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5852M|TTN_ENST00000460472.2_Missense_Mutation_p.I5727M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5919M|TTN_ENST00000589042.1_Missense_Mutation_p.I14792M|TTN_ENST00000342992.6_Missense_Mutation_p.I12224M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13151	Ig-like 87.				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.I12224M(2)|p.I5919M(1)|p.I5852M(1)|p.I5727M(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)			ATTCCACTGGGATATCTTCGT	0.483																																						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.(36670-36672)ATC>ATG		titin isoform N2-A							132.0	135.0	134.0					2																	179494076		1967	4164	6131	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179494076G>C	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.39453C>G	2.37:g.179494076G>C	ENSP00000465570:p.Ile13151Met					TTN_uc010zfh.1_Missense_Mutation_p.I5919M|TTN_uc010zfi.1_Missense_Mutation_p.I5852M|TTN_uc010zfj.1_Missense_Mutation_p.I5727M	p.I12224M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		189	36896	-			13151					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.36672C>G		.	.	.	.	.	.	.	.	.	.	G	5.330	0.246193	0.10130	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.95	2.2	0.27929	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70055	0.3180	L	0.45228	1.405	0.39683	D	0.970922	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.72338	0.959;0.959;0.959;0.977	T	0.68834	-0.5304	9	0.87932	D	0	.	5.0731	0.14617	0.3398:0.0:0.5289:0.1312	.	5727;5852;5919;13151	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	12224;5727;5919;5852;5727	ENSP00000343764:I12224M;ENSP00000434586:I5727M;ENSP00000340554:I5919M;ENSP00000352154:I5852M	ENSP00000340554:I5919M	I	-	3	3	TTN	179202321	0.992000	0.36948	1.000000	0.80357	0.220000	0.24768	0.246000	0.18160	0.425000	0.26087	-0.244000	0.11960	ATC		PASS	0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	67	6	67	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179593630	179593630	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:179593630G>T	ENST00000591111.1	-	63	18408	c.18184C>A	c.(18184-18186)Ctt>Att	p.L6062I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L6379I|TTN_ENST00000342992.6_Missense_Mutation_p.L5135I			Q8WZ42	TITIN_HUMAN	titin	12850	Ig-like 41.				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.L5135I(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)			TGTACTAAAAGGAAAGCATAA	0.393																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(15403-15405)CTT>ATT		titin isoform N2-A							75.0	68.0	70.0					2																	179593630		1911	4139	6050	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593630G>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.18184C>A	2.37:g.179593630G>T	ENSP00000465570:p.Leu6062Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1796I	p.L5135I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		62	15627	-			6062					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.15403C>A		.	.	.	.	.	.	.	.	.	.	G	13.13	2.145252	0.37825	.	.	ENSG00000155657	ENST00000342992	T	0.61742	0.08	5.63	5.63	0.86233	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81903	0.4921	M	0.90145	3.09	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84694	0.0724	9	0.87932	D	0	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	6062	Q8WZ42	TITIN_HUMAN	I	5135	ENSP00000343764:L5135I	ENSP00000343764:L5135I	L	-	1	0	TTN	179301875	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.901000	0.87382	2.826000	0.97356	0.655000	0.94253	CTT		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	47	9	47	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179597601	179597601	+	Silent	SNP	G	G	T	rs370615208		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:179597601G>T	ENST00000591111.1	-	53	15575	c.15351C>A	c.(15349-15351)tcC>tcA	p.S5117S	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.S5434S|TTN_ENST00000342992.6_Silent_p.S4190S|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12486	Ig-like 31.				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.S4190S(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)			TGCTTCCCACGGAATTTGTGG	0.423																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	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.(12568-12570)TCC>TCA		titin isoform N2-A							47.0	46.0	47.0					2																	179597601		1965	4140	6105	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597601G>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.15351C>A	2.37:g.179597601G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S851S	p.S4190S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		52	12794	-			5117					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	Silent	SNP	ENST00000591111.1	37	c.12570C>A																																																																																					PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	55	10	55	---	---	---	---
FZD7	8324	broad.mit.edu	37	2	202900382	202900382	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:202900382A>G	ENST00000286201.1	+	1	1073	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	338					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I338V(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGGCTGCACCATCCTCTTCAT	0.632											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyw.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1012-1014)ATC>GTC		frizzled 7 precursor							80.0	77.0	78.0					2																	202900382		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900382A>G	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1012A>G	2.37:g.202900382A>G	ENSP00000286201:p.Ile338Val		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.I338V	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	1073	+			338			Helical; Name=3; (Potential).		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.1012A>G	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	A	9.128	1.010644	0.19277	.	.	ENSG00000155760	ENST00000286201	T	0.80994	-1.44	5.54	5.54	0.83059	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	N	0.16037	0.36	0.80722	D	1	B	0.19331	0.035	B	0.26864	0.074	T	0.61898	-0.6968	10	0.06757	T	0.87	.	15.6836	0.77391	1.0:0.0:0.0:0.0	.	338	O75084	FZD7_HUMAN	V	338	ENSP00000286201:I338V	ENSP00000286201:I338V	I	+	1	0	FZD7	202608627	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.333000	0.96459	2.116000	0.64780	0.460000	0.39030	ATC		PASS	0.632	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		16	61	16	61	---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219295494	219295494	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:219295494T>G	ENST00000248444.5	+	10	1083	c.995T>G	c.(994-996)gTg>gGg	p.V332G	VIL1_ENST00000392114.2_Missense_Mutation_p.V21G|VIL1_ENST00000440053.1_Missense_Mutation_p.V332G	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	332	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.V332G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGTGGAGGTGCAGAATGAT	0.582																																						uc002via.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(994-996)GTG>GGG		villin 1							85.0	77.0	80.0					2																	219295494		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219295494T>G	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.995T>G	2.37:g.219295494T>G	ENSP00000248444:p.Val332Gly					VIL1_uc010zke.1_Missense_Mutation_p.V21G|VIL1_uc002vib.2_Missense_Mutation_p.V332G|VIL1_uc002vic.1_Missense_Mutation_p.V332G	p.V332G	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1060	+		Renal(207;0.0474)	332			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.995T>G	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759894	0.49468	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000440053	T;T;T	0.58506	0.33;0.81;0.33	4.02	4.02	0.46733	Gelsolin domain (1);	0.568740	0.16705	N	0.202923	T	0.76335	0.3973	M	0.90542	3.125	0.58432	D	0.999994	D;D	0.71674	0.998;0.974	D;D	0.80764	0.994;0.982	T	0.77395	-0.2604	10	0.62326	D	0.03	-14.2697	6.219	0.20671	0.0:0.1602:0.0:0.8398	.	332;332	Q96AC8;P09327	.;VILI_HUMAN	G	332;21;332	ENSP00000248444:V332G;ENSP00000375962:V21G;ENSP00000409270:V332G	ENSP00000248444:V332G	V	+	2	0	VIL1	219003738	0.994000	0.37717	1.000000	0.80357	0.442000	0.32017	1.959000	0.40412	1.695000	0.51148	0.379000	0.24179	GTG		PASS	0.582	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		4	66	4	66	---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231927224	231927224	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:231927224G>A	ENST00000308696.6	+	4	301	c.139G>A	c.(139-141)Gtt>Att	p.V47I	PSMD1_ENST00000373635.4_Missense_Mutation_p.V47I|PSMD1_ENST00000409643.1_Missense_Mutation_p.V47I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	47					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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|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 cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.V47I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTTCAGAGAGGTTTTATACGA	0.393																																						uc002vrn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(139-141)GTT>ATT		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						76.0	81.0	79.0					2																	231927224		2203	4299	6502	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231927224G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.139G>A	2.37:g.231927224G>A	ENSP00000309474:p.Val47Ile					PSMD1_uc002vrm.1_Missense_Mutation_p.V47I|PSMD1_uc010fxu.1_Intron	p.V47I	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	4	270	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	47					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.139G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273017	0.40194	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.31769	1.48;1.48;1.48	6.17	5.3	0.74995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	N	0.10629	0.01	0.80722	D	1	B;B	0.19445	0.0;0.036	B;B	0.16722	0.001;0.016	T	0.05370	-1.0889	10	0.36615	T	0.2	-6.809	12.6895	0.56966	0.1319:0.0:0.8681:0.0	.	47;47	Q99460;Q99460-2	PSMD1_HUMAN;.	I	47	ENSP00000309474:V47I;ENSP00000362738:V47I;ENSP00000386932:V47I	ENSP00000309474:V47I	V	+	1	0	PSMD1	231635468	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.029000	0.88807	1.626000	0.50381	0.655000	0.94253	GTT		PASS	0.393	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			13	84	13	84	---	---	---	---
C2orf57	165100	broad.mit.edu	37	2	232458735	232458735	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:232458735C>G	ENST00000313965.2	+	1	1161	c.1073C>G	c.(1072-1074)aCc>aGc	p.T358S		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	358								p.T358S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CGCACCATCACCCGTGTGCTG	0.687																																						uc002vrz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1072-1074)ACC>AGC		hypothetical protein LOC165100							56.0	53.0	54.0					2																	232458735		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458735C>G	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.1073C>G	2.37:g.232458735C>G	ENSP00000315557:p.Thr358Ser						p.T358S	NM_152614	NP_689827	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	1124	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	358					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.1073C>G	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	C	5.683	0.310522	0.10733	.	.	ENSG00000177673	ENST00000313965	T	0.22134	1.97	5.15	1.03	0.20045	.	0.000000	0.35124	N	0.003429	T	0.13586	0.0329	L	0.32530	0.975	0.09310	N	1	B	0.31910	0.346	B	0.35278	0.199	T	0.14587	-1.0467	10	0.56958	D	0.05	-19.7636	3.2552	0.06828	0.3092:0.4546:0.1501:0.0861	.	358	Q53QW1	CB057_HUMAN	S	358	ENSP00000315557:T358S	ENSP00000315557:T358S	T	+	2	0	C2orf57	232166979	0.001000	0.12720	0.013000	0.15412	0.015000	0.08874	0.018000	0.13422	0.305000	0.22832	0.557000	0.71058	ACC		PASS	0.687	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		9	70	9	70	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234366959	234366959	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr2:234366959G>T	ENST00000264057.2	+	22	2622	c.2610G>T	c.(2608-2610)aaG>aaT	p.K870N	DGKD_ENST00000409813.3_Missense_Mutation_p.K826N	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	870					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.K870N(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCGATGACAAGATTCTGGAGG	0.592																																						uc002vui.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2608-2610)AAG>AAT		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						145.0	102.0	116.0					2																	234366959		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234366959G>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2610G>T	2.37:g.234366959G>T	ENSP00000264057:p.Lys870Asn					DGKD_uc002vuj.1_Missense_Mutation_p.K826N|DGKD_uc010fyi.1_RNA	p.K870N	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	22	2622	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	870					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2610G>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138906	0.77775	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.41758	0.99;0.99	3.51	3.51	0.40186	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.48362	1.52	0.48571	D	0.999674	P;D	0.58620	0.914;0.983	P;D	0.68621	0.722;0.959	T	0.51188	-0.8737	10	0.52906	T	0.07	.	10.0964	0.42478	0.0956:0.0:0.9044:0.0	.	826;870	Q16760-2;Q16760	.;DGKD_HUMAN	N	870;826	ENSP00000264057:K870N;ENSP00000386455:K826N	ENSP00000264057:K870N	K	+	3	2	DGKD	234031698	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.616000	0.67709	2.276000	0.75962	0.555000	0.69702	AAG		PASS	0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		8	40	8	40	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1427380	1427380	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:1427380G>A	ENST00000446702.2	+	20	3230	c.2603G>A	c.(2602-2604)gGg>gAg	p.G868E	CNTN6_ENST00000539053.1_Missense_Mutation_p.G796E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G868E			Q9UQ52	CNTN6_HUMAN	contactin 6	868	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G868E(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACATCACGGGGCTGAAAGCT	0.428																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2602-2604)GGG>GAG		contactin 6 precursor							180.0	183.0	182.0					3																	1427380		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1427380G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2603G>A	3.37:g.1427380G>A	ENSP00000407822:p.Gly868Glu					CNTN6_uc011asj.1_Missense_Mutation_p.G796E|CNTN6_uc003bpa.2_Missense_Mutation_p.G868E	p.G868E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	20	2870	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	868			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2603G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614449	0.66672	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.58506	0.33;0.33;0.33	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.73721	0.3623	M	0.81802	2.56	0.39526	D	0.968594	D	0.63880	0.993	D	0.65874	0.939	T	0.77822	-0.2445	10	0.72032	D	0.01	.	10.3617	0.43998	0.1445:0.0:0.8555:0.0	.	868	Q9UQ52	CNTN6_HUMAN	E	868;796;868	ENSP00000407822:G868E;ENSP00000442791:G796E;ENSP00000341882:G868E	ENSP00000341882:G868E	G	+	2	0	CNTN6	1402380	1.000000	0.71417	0.847000	0.33407	0.933000	0.57130	3.628000	0.54259	2.708000	0.92522	0.650000	0.86243	GGG		PASS	0.428	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		28	124	28	124	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19491639	19491639	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:19491639A>T	ENST00000328405.2	+	9	1683	c.1417A>T	c.(1417-1419)Ata>Tta	p.I473L	KCNH8_ENST00000537696.1_Missense_Mutation_p.I142L	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	473					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.I473L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GACAGCAATCATACAGAGGAT	0.453																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(1417-1419)ATA>TTA		potassium voltage-gated channel, subfamily H,							168.0	150.0	156.0					3																	19491639		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19491639A>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1417A>T	3.37:g.19491639A>T	ENSP00000328813:p.Ile473Leu					KCNH8_uc011awe.1_Missense_Mutation_p.I473L|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Missense_Mutation_p.I132L	p.I473L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			9	1612	+			473			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1417A>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	A	36	5.599743	0.96614	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;T	0.97041	-4.22;2.08	6.16	6.16	0.99307	.	0.000000	0.33438	U	0.004920	D	0.98448	0.9483	M	0.83692	2.655	0.80722	D	1	D;D;P	0.71674	0.996;0.998;0.93	D;D;P	0.79108	0.992;0.927;0.751	D	0.99000	1.0811	9	.	.	.	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	142;473;473	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	L	473;142	ENSP00000328813:I473L;ENSP00000446294:I142L	.	I	+	1	0	KCNH8	19466643	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.307000	0.96226	2.367000	0.80283	0.528000	0.53228	ATA		PASS	0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		17	66	17	66	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52682440	52682440	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:52682440T>A	ENST00000296302.7	-	7	734	c.733A>T	c.(733-735)Att>Ttt	p.I245F	PBRM1_ENST00000409057.1_Missense_Mutation_p.I245F|PBRM1_ENST00000337303.4_Missense_Mutation_p.I245F|PBRM1_ENST00000356770.4_Missense_Mutation_p.I245F|PBRM1_ENST00000410007.1_Missense_Mutation_p.I245F|PBRM1_ENST00000409114.3_Missense_Mutation_p.I245F|PBRM1_ENST00000394830.3_Missense_Mutation_p.I245F|PBRM1_ENST00000409767.1_Missense_Mutation_p.I245F			Q86U86	PB1_HUMAN	polybromo 1	245	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I245F(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTGCATGAATACTTTTGTAG	0.333			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Substitution - Missense(3)		lung(3)	kidney(136)|breast(4)	140						c.(733-735)ATT>TTT		polybromo 1 isoform 4							168.0	163.0	165.0					3																	52682440		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52682440T>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.733A>T	3.37:g.52682440T>A	ENSP00000296302:p.Ile245Phe					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.I245F|PBRM1_uc003der.2_Missense_Mutation_p.I245F|PBRM1_uc003det.2_Missense_Mutation_p.I245F|PBRM1_uc003deu.2_Missense_Mutation_p.I245F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.I245F|PBRM1_uc010hmk.1_Missense_Mutation_p.I245F|PBRM1_uc003dey.2_Missense_Mutation_p.I245F|PBRM1_uc003dez.1_Missense_Mutation_p.I245F|PBRM1_uc003dfb.1_Missense_Mutation_p.I143F	p.I245F	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	7	745	-			245			Bromo 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.733A>T		.	.	.	.	.	.	.	.	.	.	T	17.36	3.370163	0.61624	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.68	3.22	0.36961	Bromodomain (5);Bromodomain, conserved site (1);	0.396069	0.27262	N	0.020163	T	0.23727	0.0574	N	0.11845	0.185	0.50039	D	0.999843	P;P;B;P;B;P;D;P;B	0.53462	0.603;0.785;0.208;0.603;0.371;0.871;0.96;0.603;0.403	B;B;B;B;B;P;P;B;B	0.53450	0.305;0.422;0.123;0.305;0.173;0.605;0.726;0.305;0.172	T	0.04165	-1.0972	10	0.41790	T	0.15	-17.2491	5.8703	0.18799	0.0:0.1435:0.1404:0.7161	.	245;245;245;245;245;245;245;245;245	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	F	245;245;245;245;245;245;245;245;245;189	ENSP00000349213:I245F;ENSP00000378307:I245F;ENSP00000296302:I245F;ENSP00000338302:I245F;ENSP00000386593:I245F;ENSP00000386529:I245F;ENSP00000386643:I245F;ENSP00000386601:I245F;ENSP00000387775:I245F;ENSP00000397662:I189F	ENSP00000296302:I245F	I	-	1	0	PBRM1	52657480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.733000	0.26087	0.392000	0.25172	0.528000	0.53228	ATT		PASS	0.333	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		19	79	19	79	---	---	---	---
CBLB	868	broad.mit.edu	37	3	105421219	105421219	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:105421219C>T	ENST00000264122.4	-	12	1999	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	CBLB_ENST00000394027.3_Missense_Mutation_p.E582K|CBLB_ENST00000405772.1_Missense_Mutation_p.E560K|CBLB_ENST00000403724.1_Missense_Mutation_p.E560K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	560	Interaction with VAV1.|Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E560K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGAGGTCTTTCAGGTGGCGGT	0.502			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(1678-1680)GAA>AAA		Cas-Br-M (murine) ecotropic retroviral							82.0	73.0	76.0					3																	105421219		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105421219C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1678G>A	3.37:g.105421219C>T	ENSP00000264122:p.Glu560Lys					CBLB_uc011bhi.1_Missense_Mutation_p.E582K|CBLB_uc003dwd.1_Missense_Mutation_p.E560K|CBLB_uc003dwe.1_Missense_Mutation_p.E560K	p.E560K	NM_170662	NP_733762	Q13191	CBLB_HUMAN			12	2000	-			560			Interaction with VAV1.|Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1678G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474253	0.63737	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.84944	-1.9;-1.87;-1.9;-1.92	5.36	5.36	0.76844	.	0.111370	0.64402	D	0.000006	T	0.80518	0.4638	L	0.43152	1.355	0.80722	D	1	B;P;P	0.37330	0.319;0.59;0.457	B;B;B	0.34652	0.034;0.187;0.129	T	0.79050	-0.1962	9	.	.	.	-18.8328	17.255	0.87053	0.0:1.0:0.0:0.0	.	582;560;560	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	K	560;582;560;560	ENSP00000264122:E560K;ENSP00000377595:E582K;ENSP00000384816:E560K;ENSP00000384938:E560K	.	E	-	1	0	CBLB	106903909	1.000000	0.71417	0.710000	0.30468	0.829000	0.46940	6.171000	0.71926	2.485000	0.83878	0.404000	0.27445	GAA		PASS	0.502	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		10	84	10	84	---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108288392	108288392	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:108288392C>T	ENST00000295746.8	-	9	1033	c.957G>A	c.(955-957)atG>atA	p.M319I	KIAA1524_ENST00000491772.1_Missense_Mutation_p.M160I|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	319					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M319I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTCAAACATCATCTGAGTGA	0.443																																						uc003dxb.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(955-957)ATG>ATA		p90 autoantigen							65.0	60.0	62.0					3																	108288392		2203	4299	6502	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108288392C>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.957G>A	3.37:g.108288392C>T	ENSP00000295746:p.Met319Ile					KIAA1524_uc010hpv.1_5'Flank|KIAA1524_uc003dxc.1_Missense_Mutation_p.M160I|KIAA1524_uc010hpw.1_Missense_Mutation_p.M160I	p.M319I	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			9	1226	-			319					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.957G>A	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985161	0.35036	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.10005	2.92;3.08	5.85	5.85	0.93711	Armadillo-type fold (1);	0.239159	0.49305	D	0.000146	T	0.08133	0.0203	N	0.22421	0.69	0.27670	N	0.946788	B	0.06786	0.001	B	0.10450	0.005	T	0.19549	-1.0302	10	0.30078	T	0.28	-9.0723	11.1997	0.48734	0.0:0.8759:0.0:0.1241	.	319	Q8TCG1	CIP2A_HUMAN	I	160;319	ENSP00000419487:M160I;ENSP00000295746:M319I	ENSP00000295746:M319I	M	-	3	0	KIAA1524	109771082	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.281000	0.33214	2.773000	0.95371	0.655000	0.94253	ATG		PASS	0.443	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		4	53	4	53	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113376876	113376876	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:113376876C>T	ENST00000478658.1	-	5	3670	c.3653G>A	c.(3652-3654)gGa>gAa	p.G1218E	KIAA2018_ENST00000316407.4_Missense_Mutation_p.G1218E|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1218						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.G1218E(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTTTTAATTCCTAGAGAACA	0.418																																						uc003eam.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3652-3654)GGA>GAA		hypothetical protein LOC205717							86.0	81.0	82.0					3																	113376876		1897	4146	6043	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113376876C>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3653G>A	3.37:g.113376876C>T	ENSP00000420721:p.Gly1218Glu					KIAA2018_uc003eal.2_Missense_Mutation_p.G1162E	p.G1218E	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	4064	-			1218					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.3653G>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621869	0.46840	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.13657	2.57;2.57	5.67	3.79	0.43588	.	0.486666	0.21281	N	0.077151	T	0.07908	0.0198	L	0.27053	0.805	0.44352	D	0.997243	B	0.21381	0.055	B	0.15052	0.012	T	0.16158	-1.0412	10	0.10377	T	0.69	-9.2534	7.6197	0.28179	0.1108:0.6636:0.1513:0.0743	.	1218	Q68DE3	K2018_HUMAN	E	1218	ENSP00000320794:G1218E;ENSP00000420721:G1218E	ENSP00000320794:G1218E	G	-	2	0	KIAA2018	114859566	0.829000	0.29322	0.998000	0.56505	0.883000	0.51084	1.063000	0.30567	1.355000	0.45865	0.561000	0.74099	GGA		PASS	0.418	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		15	96	15	96	---	---	---	---
GTF2E1	2960	broad.mit.edu	37	3	120489615	120489615	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:120489615G>C	ENST00000283875.5	+	3	582	c.489G>C	c.(487-489)gaG>gaC	p.E163D		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	163					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.E163D(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AGGTAGAAGAGGATGAATCAG	0.418																																						uc003edz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(487-489)GAG>GAC		general transcription factor IIE, polypeptide 1,							155.0	151.0	153.0					3																	120489615		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120489615G>C	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.489G>C	3.37:g.120489615G>C	ENSP00000283875:p.Glu163Asp						p.E163D	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	3	603	+			163					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.489G>C	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236732	0.79800	.	.	ENSG00000153767	ENST00000283875	T	0.59502	0.26	5.91	1.81	0.25067	Zinc finger, TFIIB-type (1);Zinc finger, RING/FYVE/PHD-type (1);	0.100295	0.64402	D	0.000002	T	0.64450	0.2599	M	0.62266	1.93	0.58432	D	0.999997	P	0.52692	0.955	P	0.61070	0.883	T	0.58352	-0.7651	10	0.37606	T	0.19	-28.3947	7.2199	0.25981	0.4403:0.0:0.5597:0.0	.	163	P29083	T2EA_HUMAN	D	163	ENSP00000283875:E163D	ENSP00000283875:E163D	E	+	3	2	GTF2E1	121972305	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.989000	0.40707	0.024000	0.15214	0.655000	0.94253	GAG		PASS	0.418	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		7	237	7	237	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121200502	121200502	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:121200502C>A	ENST00000264233.5	-	19	6256	c.6128G>T	c.(6127-6129)cGa>cTa	p.R2043L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2043					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R2178L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCTCTGTATCGCCCAGAATG	0.463								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)	p.G2043S(1)	lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6127-6129)CGA>CTA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							82.0	84.0	83.0					3																	121200502		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121200502C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6128G>T	3.37:g.121200502C>A	ENSP00000264233:p.Arg2043Leu					POLQ_uc003eed.2_Missense_Mutation_p.R1215L	p.R2043L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	19	6257	-			2043					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6128G>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005031	0.93287	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54071	0.59	5.05	5.05	0.67936	Ribonuclease H-like (1);	0.108387	0.64402	D	0.000008	T	0.72859	0.3513	M	0.71581	2.175	0.43179	D	0.994996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75986	-0.3124	10	0.72032	D	0.01	.	18.6046	0.91262	0.0:1.0:0.0:0.0	.	2043;1215	O75417;O75417-2	DPOLQ_HUMAN;.	L	1666;2043;2179	ENSP00000264233:R2043L	ENSP00000264233:R2043L	R	-	2	0	POLQ	122683192	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	4.796000	0.62496	2.617000	0.88574	0.650000	0.86243	CGA		PASS	0.463	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		16	91	16	91	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124132412	124132412	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:124132412G>A	ENST00000240874.3	+	14	2593	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	KALRN_ENST00000360013.3_Silent_p.Q812Q|KALRN_ENST00000460856.1_Silent_p.Q812Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	812					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.Q812Q(2)		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						AGCGGCTGCAGCGCCACACAG	0.542																																						uc003ehg.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(2434-2436)CAG>CAA		kalirin, RhoGEF kinase isoform 1							131.0	96.0	108.0					3																	124132412		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:124132412G>A	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	ENST00000240874.3:c.2436G>A	3.37:g.124132412G>A						KALRN_uc010hrv.1_Silent_p.Q812Q|KALRN_uc003ehf.1_Silent_p.Q812Q|KALRN_uc011bjy.1_Silent_p.Q812Q|KALRN_uc003ehh.1_Silent_p.Q158Q	p.Q812Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			14	2563	+			812					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.2436G>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	9.232	1.036200	0.19669	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.65	2.93	0.34026	.	.	.	.	.	T	0.61739	0.2371	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56956	-0.7893	4	.	.	.	.	11.3528	0.49598	0.1957:0.0:0.8043:0.0	.	.	.	.	N	790	.	.	S	+	2	0	KALRN	125615102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.168000	0.50801	0.490000	0.27771	0.655000	0.94253	AGC		PASS	0.542	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		19	54	19	54	---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	127872540	127872540	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:127872540C>A	ENST00000254730.6	+	1	244	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	RUVBL1_ENST00000464873.1_De_novo_Start_OutOfFrame|EEFSEC_ENST00000483457.1_Missense_Mutation_p.L64M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	64	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.L64M(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCCCGCGCGCCTGCGGTCGTC	0.721																																						uc003ekf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(-535--531)CAGGC>CATGC		RuvB-like 1							7.0	10.0	9.0					3																	127872540		2151	4226	6377	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127872540C>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.190C>A	3.37:g.127872540C>A	ENSP00000254730:p.Leu64Met					EEFSEC_uc003eki.2_Missense_Mutation_p.L64M|EEFSEC_uc003ekj.2_Missense_Mutation_p.L64M		NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	1	218	-								Q96HZ6	Translation_Start_Site	SNP	ENST00000254730.6	37	c.-533G>T	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901882	0.72754	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.57436	0.72;0.4	3.61	1.78	0.24846	Protein synthesis factor, GTP-binding (1);	0.173879	0.38217	N	0.001768	T	0.67239	0.2872	M	0.75777	2.31	0.44798	D	0.997806	D;D	0.89917	0.999;1.0	D;D	0.78314	0.986;0.991	T	0.66559	-0.5893	10	0.72032	D	0.01	-9.7373	8.8696	0.35307	0.0:0.8101:0.0:0.1899	.	64;64	C9J8T0;P57772	.;SELB_HUMAN	M	64	ENSP00000254730:L64M;ENSP00000417660:L64M	ENSP00000254730:L64M	L	+	1	2	EEFSEC	129355230	1.000000	0.71417	0.968000	0.41197	0.873000	0.50193	3.744000	0.55112	0.334000	0.23590	-0.225000	0.12378	CTG		PASS	0.721	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		3	16	3	16	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132201158	132201158	+	Missense_Mutation	SNP	C	C	G	rs374646867		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:132201158C>G	ENST00000260818.6	+	27	3211	c.2963C>G	c.(2962-2964)cCg>cGg	p.P988R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	988					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.P988R(1)|p.P371R(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGGAGTGGCCCGTATGGATTT	0.413																																						uc003eor.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2962-2964)CCG>CGG		DnaJ (Hsp40) homolog, subfamily C, member 13							109.0	107.0	108.0					3																	132201158		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132201158C>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2963C>G	3.37:g.132201158C>G	ENSP00000260818:p.Pro988Arg						p.P988R	NM_015268	NP_056083	O75165	DJC13_HUMAN			27	3028	+			988					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2963C>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149612	0.78001	.	.	ENSG00000138246	ENST00000260818	T	0.35973	1.28	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	M	0.93854	3.465	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	T	0.74884	-0.3512	10	0.42905	T	0.14	.	19.8372	0.96661	0.0:1.0:0.0:0.0	.	988	O75165	DJC13_HUMAN	R	988	ENSP00000260818:P988R	ENSP00000260818:P988R	P	+	2	0	DNAJC13	133683848	1.000000	0.71417	0.946000	0.38457	0.960000	0.62799	7.351000	0.79395	2.770000	0.95276	0.655000	0.94253	CCG		PASS	0.413	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		9	40	9	40	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136068192	136068192	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:136068192C>T	ENST00000383202.2	-	29	3335	c.3079G>A	c.(3079-3081)Gag>Aag	p.E1027K	STAG1_ENST00000236698.5_Missense_Mutation_p.E1027K|STAG1_ENST00000536929.1_Missense_Mutation_p.E611K|STAG1_ENST00000434713.2_Missense_Mutation_p.E767K	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1027					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E1027K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGGAATTTCTCTAGGTATGAA	0.403																																						uc003era.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3079-3081)GAG>AAG		stromal antigen 1							68.0	63.0	65.0					3																	136068192		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136068192C>T	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3079G>A	3.37:g.136068192C>T	ENSP00000372689:p.Glu1027Lys					STAG1_uc003erb.1_Missense_Mutation_p.E1027K	p.E1027K	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			29	3371	-			1027					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.3079G>A	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646008	0.87958	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	L	0.58302	1.8	0.80722	D	1	P;B	0.36282	0.546;0.213	B;B	0.35312	0.2;0.077	D	0.84042	0.0365	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1027;1027	Q6P275;Q8WVM7	.;STAG1_HUMAN	K	1027;1027;767;611	ENSP00000372689:E1027K;ENSP00000236698:E1027K;ENSP00000404396:E767K;ENSP00000445787:E611K	ENSP00000236698:E1027K	E	-	1	0	STAG1	137550882	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.403	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		6	57	6	57	---	---	---	---
TM4SF4	7104	broad.mit.edu	37	3	149216522	149216522	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:149216522G>T	ENST00000305354.4	+	4	1319	c.415G>T	c.(415-417)Gat>Tat	p.D139Y		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	139					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.D139Y(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTATCTCAATGATGAGGCCTT	0.448																																						uc003exd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)GAT>TAT		transmembrane 4 superfamily member 4							80.0	79.0	80.0					3																	149216522		1904	4126	6030	SO:0001583	missense	7104					integral to membrane		g.chr3:149216522G>T		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.415G>T	3.37:g.149216522G>T	ENSP00000305852:p.Asp139Tyr						p.D139Y	NM_004617	NP_004608	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	646	+			139			Extracellular (Potential).		B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	c.415G>T	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978692	0.53720	.	.	ENSG00000169903	ENST00000305354	T	0.38401	1.14	5.9	3.16	0.36331	.	0.136777	0.64402	D	0.000002	T	0.55641	0.1933	M	0.77486	2.375	0.25526	N	0.987329	D	0.76494	0.999	D	0.71414	0.973	T	0.49041	-0.8980	10	0.66056	D	0.02	.	8.5154	0.33242	0.3534:0.0:0.6466:0.0	.	139	P48230	T4S4_HUMAN	Y	139	ENSP00000305852:D139Y	ENSP00000305852:D139Y	D	+	1	0	TM4SF4	150699212	0.732000	0.28121	0.003000	0.11579	0.129000	0.20672	1.324000	0.33712	0.406000	0.25560	0.650000	0.86243	GAT		PASS	0.448	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			13	72	13	72	---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156232996	156232996	+	Silent	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:156232996C>A	ENST00000490337.1	+	10	916	c.852C>A	c.(850-852)ctC>ctA	p.L284L	KCNAB1_ENST00000302490.8_Silent_p.L266L|KCNAB1_ENST00000471742.1_Silent_p.L273L|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Silent_p.L237L|KCNAB1_ENST00000389636.5_Silent_p.L255L	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	284					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.L273L(1)|p.L284L(1)|p.L266L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGCCAGAGCTCTACCACAAAA	0.383																																						uc003far.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|skin(1)	4						c.(850-852)CTC>CTA		potassium voltage-gated channel, shaker-related							69.0	69.0	69.0					3																	156232996		2203	4300	6503	SO:0001819	synonymous_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156232996C>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.852C>A	3.37:g.156232996C>A						KCNAB1_uc011bon.1_Silent_p.L255L|KCNAB1_uc003fas.2_Silent_p.L273L|KCNAB1_uc003fat.2_Silent_p.L266L|KCNAB1_uc010hvt.1_Silent_p.L237L|KCNAB1_uc011boo.1_Silent_p.L160L	p.L284L	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		10	916	+			284					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	c.852C>A	CCDS3174.1																																																																																				PASS	0.383	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		10	84	10	84	---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184104631	184104631	+	Splice_Site	SNP	A	A	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:184104631A>G	ENST00000204604.1	+	17	2442		c.e17-1		CHRD_ENST00000348986.3_Splice_Site|CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000450923.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						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.?(2)		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)			TCCTCTCTGCAGAGACGAACG	0.657																																						uc003fov.2																			2	Unknown(2)		lung(2)	skin(2)|ovary(1)	3						c.e17-2		chordin precursor							57.0	43.0	48.0					3																	184104631		2203	4300	6503	SO:0001630	splice_region_variant	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.chr3:184104631A>G	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.2197-1A>G	3.37:g.184104631A>G						CHRD_uc003fow.2_Splice_Site_p.R363_splice|CHRD_uc003fox.2_Splice_Site_p.R733_splice|CHRD_uc003foy.2_Splice_Site_p.R363_splice|CHRD_uc010hyc.2_Splice_Site_p.R323_splice|CHRD_uc011brr.1_Splice_Site_p.R275_splice	p.R733_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2443	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)							O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Splice_Site	SNP	ENST00000204604.1	37	c.2197_splice	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680694	0.68042	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9413	0.52903	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHRD	185587325	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	6.410000	0.73294	1.770000	0.52166	0.379000	0.24179	.		PASS	0.657	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	Intron	3	67	3	67	---	---	---	---
LIPH	200879	broad.mit.edu	37	3	185236980	185236980	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr3:185236980C>A	ENST00000296252.4	-	6	977	c.836G>T	c.(835-837)gGc>gTc	p.G279V	LIPH_ENST00000424591.2_Missense_Mutation_p.G245V	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	279					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.G279V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GACACACTTGCCATTCCTATA	0.488																																						uc003fpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(835-837)GGC>GTC		lipase, member H precursor							141.0	139.0	140.0					3																	185236980		2203	4300	6503	SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185236980C>A	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.836G>T	3.37:g.185236980C>A	ENSP00000296252:p.Gly279Val					LIPH_uc010hyh.2_Missense_Mutation_p.G245V	p.G279V	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		6	946	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		279					A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	c.836G>T	CCDS3272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.589262|4.589262	0.86851|0.86851	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000452897|ENST00000296252;ENST00000424591	.|D;D	.|0.91407	.|-2.84;-2.84	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Lipase, N-terminal (1);	.|0.044672	.|0.85682	.|D	.|0.000000	D|D	0.96605|0.96605	0.8892|0.8892	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.992	D|D	0.97496|0.97496	1.0057|1.0057	5|10	.|0.87932	.|D	.|0	-23.3332|-23.3332	17.5292|17.5292	0.87809|0.87809	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|245;279	.|A2IBA6;Q8WWY8	.|.;LIPH_HUMAN	S|V	70|279;245	.|ENSP00000296252:G279V;ENSP00000396384:G245V	.|ENSP00000296252:G279V	A|G	-|-	1|2	0|0	LIPH|LIPH	186719674|186719674	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.925000|0.925000	0.55904|0.55904	6.589000|6.589000	0.74080|0.74080	2.612000|2.612000	0.88384|0.88384	0.456000|0.456000	0.33151|0.33151	GCA|GGC		PASS	0.488	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			34	276	34	276	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5743447	5743447	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:5743447T>A	ENST00000264956.6	+	6	891	c.707T>A	c.(706-708)tTt>tAt	p.F236Y	EVC_ENST00000382674.2_Missense_Mutation_p.F236Y|EVC_ENST00000509451.1_Missense_Mutation_p.F236Y	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	236					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F236Y(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CAATAGATGTTTATTCAGATT	0.338																																						uc003gil.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(706-708)TTT>TAT		Ellis van Creveld syndrome protein							52.0	54.0	53.0					4																	5743447		2203	4297	6500	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5743447T>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.707T>A	4.37:g.5743447T>A	ENSP00000264956:p.Phe236Tyr					EVC_uc003gim.1_RNA	p.F236Y	NM_153717	NP_714928	P57679	EVC_HUMAN			6	891	+		Myeloproliferative disorder(84;0.117)	236						Missense_Mutation	SNP	ENST00000264956.6	37	c.707T>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022036	0.75275	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.66995	-0.24;-0.24;0.03	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.65498	2.005	0.46749	D	0.999182	D	0.67145	0.996	D	0.79784	0.993	T	0.81963	-0.0692	10	0.87932	D	0	.	13.6367	0.62227	0.0:0.0:0.0:1.0	.	236	P57679	EVC_HUMAN	Y	236	ENSP00000264956:F236Y;ENSP00000372120:F236Y;ENSP00000426774:F236Y	ENSP00000264956:F236Y	F	+	2	0	EVC	5794348	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.236000	0.58675	1.896000	0.54893	0.496000	0.49642	TTT		PASS	0.338	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			9	64	9	64	---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20711365	20711365	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:20711365C>G	ENST00000503585.1	+	5	726	c.335C>G	c.(334-336)tCa>tGa	p.S112*	PACRGL_ENST00000295290.8_Nonsense_Mutation_p.S112*|PACRGL_ENST00000507634.1_Nonsense_Mutation_p.S112*|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000360916.5_Nonsense_Mutation_p.S112*|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Intron	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	112								p.S112*(1)		endometrium(2)|lung(7)|prostate(1)	10						GAAAGTCTTTCATTTGATCCA	0.289																																						uc010iek.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(334-336)TCA>TGA		PARK2 co-regulated-like isoform 1							122.0	127.0	126.0					4																	20711365		2203	4297	6500	SO:0001587	stop_gained	133015						binding	g.chr4:20711365C>G	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.335C>G	4.37:g.20711365C>G	ENSP00000423881:p.Ser112*					PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Nonsense_Mutation_p.S160*|PACRGL_uc003gpz.2_Nonsense_Mutation_p.S112*|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Nonsense_Mutation_p.S112*|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	p.S112*	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			5	726	+			112					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Nonsense_Mutation	SNP	ENST00000503585.1	37	c.335C>G	CCDS58895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.236082|6.236082	0.97399|0.97399	.|.	.|.	ENSG00000163138|ENSG00000163138	ENST00000506457|ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000509469;ENST00000513590;ENST00000507634	.|.	.|.	.|.	5.76|5.76	4.92|4.92	0.64577|0.64577	.|.	.|0.402944	.|0.25820	.|N	.|0.028092	T|.	0.70789|.	0.3264|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.70396|.	-0.4883|.	4|.	.|0.40728	.|T	.|0.16	-2.8782|-2.8782	14.712|14.712	0.69241|0.69241	0.0:0.9303:0.0:0.0697|0.0:0.9303:0.0:0.0697	.|.	.|.	.|.	.|.	L|X	43|160;112;112;112;112;112;112;112	.|.	.|ENSP00000295290:S112X	F|S	+|+	3|2	2|0	PACRGL|PACRGL	20320463|20320463	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.961000|0.961000	0.63080|0.63080	3.172000|3.172000	0.50832|0.50832	1.432000|1.432000	0.47375|0.47375	0.591000|0.591000	0.81541|0.81541	TTC|TCA		PASS	0.289	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		7	112	7	112	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25677891	25677891	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:25677891C>G	ENST00000382051.3	+	13	1643	c.1593C>G	c.(1591-1593)ttC>ttG	p.F531L	SLC34A2_ENST00000503434.1_Missense_Mutation_p.F530L|SLC34A2_ENST00000504570.1_Missense_Mutation_p.F530L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	531					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.F531L(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCGCCGTCTTCTACCTGATCA	0.612			T	ROS1	NSCLC																																	uc003grr.2				Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(1591-1593)TTC>TTG		solute carrier family 34 (sodium phosphate),							187.0	169.0	175.0					4																	25677891		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677891C>G	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1593C>G	4.37:g.25677891C>G	ENSP00000371483:p.Phe531Leu					SLC34A2_uc003grs.2_Missense_Mutation_p.F530L|SLC34A2_uc010iev.2_Missense_Mutation_p.F530L	p.F531L	NM_006424	NP_006415	O95436	NPT2B_HUMAN			13	1674	+		Breast(46;0.0503)	531			Helical; Name=M7; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1593C>G	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	7.696	0.692111	0.15039	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.21361	2.01;2.03;2.01	5.18	4.32	0.51571	.	0.390087	0.29699	N	0.011433	T	0.10294	0.0252	N	0.17901	0.54	0.44085	D	0.996842	B;B	0.13145	0.007;0.002	B;B	0.17979	0.02;0.008	T	0.10567	-1.0624	10	0.05833	T	0.94	-13.1414	6.5373	0.22361	0.0:0.5439:0.3443:0.1118	.	530;531	O95436-2;O95436	.;NPT2B_HUMAN	L	530;531;530	ENSP00000425501:F530L;ENSP00000371483:F531L;ENSP00000423021:F530L	ENSP00000371483:F531L	F	+	3	2	SLC34A2	25286989	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	1.063000	0.30567	1.281000	0.44480	0.561000	0.74099	TTC		PASS	0.612	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		24	159	24	159	---	---	---	---
NFXL1	152518	broad.mit.edu	37	4	47877170	47877170	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:47877170C>G	ENST00000507489.1	-	18	2396	c.2220G>C	c.(2218-2220)aaG>aaC	p.K740N	NFXL1_ENST00000381538.3_Missense_Mutation_p.K740N	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	740						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K740N(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GGCTTGTGATCTTACAGTGAC	0.363																																						uc010igh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(2218-2220)AAG>AAC		nuclear transcription factor, X-box binding-like							112.0	102.0	106.0					4																	47877170		2203	4300	6503	SO:0001583	missense	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47877170C>G	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2220G>C	4.37:g.47877170C>G	ENSP00000422037:p.Lys740Asn					NFXL1_uc003gxo.2_Missense_Mutation_p.K65N|NFXL1_uc003gxp.2_Missense_Mutation_p.K740N|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.K740N	p.K740N	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			18	2397	-			740					B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	c.2220G>C	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958805	0.74016	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.29142	1.58;1.58	5.94	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.62723	1.935	0.80722	D	1	D	0.55605	0.972	P	0.52672	0.706	T	0.07770	-1.0755	10	0.37606	T	0.19	-12.6791	11.0127	0.47671	0.0:0.8474:0.0:0.1526	.	740	Q6ZNB6	NFXL1_HUMAN	N	740	ENSP00000370949:K740N;ENSP00000422037:K740N	ENSP00000370949:K740N	K	-	3	2	NFXL1	47571927	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.575000	0.46025	2.821000	0.97095	0.484000	0.47621	AAG		PASS	0.363	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		9	63	9	63	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48581237	48581237	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:48581237T>C	ENST00000503238.1	-	20	2280	c.2281A>G	c.(2281-2283)Agc>Ggc	p.S761G	FRYL_ENST00000507711.1_Missense_Mutation_p.S761G|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.S761G|FRYL_ENST00000358350.4_Missense_Mutation_p.S761G			O94915	FRYL_HUMAN	FRY-like	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.S761G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTATCGAGCTAGGGCAATAG	0.318																																						uc003gyh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2281-2283)AGC>GGC		furry-like							80.0	73.0	75.0					4																	48581237		1841	4086	5927	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48581237T>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2281A>G	4.37:g.48581237T>C	ENSP00000426064:p.Ser761Gly					FRYL_uc003gyk.2_Missense_Mutation_p.S761G	p.S761G	NM_015030	NP_055845	O94915	FRYL_HUMAN			23	2886	-			761					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2281A>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.266971	0.23136	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	6.17	0.719	0.18208	.	0.000000	0.85682	U	0.000000	T	0.07143	0.0181	M	0.66939	2.045	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20638	-1.0269	10	0.29301	T	0.29	.	6.9754	0.24672	0.0:0.1854:0.1136:0.701	.	761;761	F2Z2S2;O94915	.;FRYL_HUMAN	G	761	ENSP00000426064:S761G;ENSP00000351113:S761G;ENSP00000441114:S761G;ENSP00000421584:S761G	ENSP00000351113:S761G	S	-	1	0	FRYL	48275994	1.000000	0.71417	0.942000	0.38095	0.392000	0.30506	3.070000	0.50033	0.163000	0.19507	0.533000	0.62120	AGC		PASS	0.318	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			6	53	6	53	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65175614	65175614	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:65175614C>G	ENST00000381210.3	-	6	697	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TECRL_ENST00000507440.1_Missense_Mutation_p.R196P|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	196					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.R196P(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAAGGTATCGGATGTAGTG	0.343																																						uc003hcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)CGA>CCA		steroid 5 alpha-reductase 2-like 2							96.0	101.0	100.0					4																	65175614		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65175614C>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.587G>C	4.37:g.65175614C>G	ENSP00000370607:p.Arg196Pro					TECRL_uc003hcw.2_Missense_Mutation_p.R196P	p.R196P	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			6	696	-			196						Missense_Mutation	SNP	ENST00000381210.3	37	c.587G>C	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543086	0.65198	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.49720	0.77;0.77	5.11	5.11	0.69529	.	0.068040	0.56097	D	0.000026	T	0.67748	0.2926	M	0.72118	2.19	0.32286	N	0.566907	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.75950	-0.3137	10	0.87932	D	0	-13.5394	15.2611	0.73625	0.0:1.0:0.0:0.0	.	196;196	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	P	196	ENSP00000426043:R196P;ENSP00000370607:R196P	ENSP00000370607:R196P	R	-	2	0	TECRL	64858209	0.998000	0.40836	0.992000	0.48379	0.911000	0.54048	4.095000	0.57728	2.370000	0.80446	0.555000	0.69702	CGA		PASS	0.343	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		26	120	26	120	---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70156509	70156509	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:70156509G>A	ENST00000335568.5	+	5	1292	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	430					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.K430K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGCACTGAAGACAGTAATTA	0.418																																						uc003hej.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1288-1290)AAG>AAA		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						109.0	118.0	115.0					4																	70156509		2048	4237	6285	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156509G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1290G>A	4.37:g.70156509G>A						UGT2B28_uc010ihr.2_Intron	p.K430K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1292	+			430					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.1290G>A	CCDS3528.1																																																																																				PASS	0.418	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		35	135	35	135	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70361034	70361034	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:70361034C>G	ENST00000305107.6	-	1	592	c.546G>C	c.(544-546)aaG>aaC	p.K182N	UGT2B4_ENST00000381096.3_Missense_Mutation_p.K46N|UGT2B4_ENST00000512583.1_Missense_Mutation_p.K182N|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	182					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.K182N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CTCCACTATGCTTTTCAATTG	0.443																																						uc003hek.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(544-546)AAG>AAC		UDP glucuronosyltransferase 2B4 precursor							67.0	67.0	67.0					4																	70361034		2190	4295	6485	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361034C>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.546G>C	4.37:g.70361034C>G	ENSP00000305221:p.Lys182Asn					UGT2B4_uc011cap.1_Missense_Mutation_p.K46N|UGT2B4_uc003hel.3_Missense_Mutation_p.K182N	p.K182N	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	593	-			182					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.546G>C	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.712246	0.30322	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.62364	0.03;0.03;0.03	2.4	-3.4	0.04853	.	0.079360	0.46758	U	0.000274	T	0.66944	0.2841	L	0.56769	1.78	0.09310	N	1	P;P;D	0.59767	0.661;0.908;0.986	P;P;D	0.65573	0.597;0.851;0.936	T	0.62623	-0.6815	10	0.52906	T	0.07	.	9.036	0.36289	0.0:0.6835:0.0:0.3165	.	46;182;182	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	N	182;182;46	ENSP00000421290:K182N;ENSP00000305221:K182N;ENSP00000370486:K46N	ENSP00000305221:K182N	K	-	3	2	UGT2B4	70395623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.837000	0.01689	-0.870000	0.04047	-0.708000	0.03648	AAG		PASS	0.443	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		6	55	6	55	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83778220	83778220	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:83778220C>G	ENST00000395310.2	-	16	1948	c.1766G>C	c.(1765-1767)tGt>tCt	p.C589S	SEC31A_ENST00000311785.7_Missense_Mutation_p.C589S|SEC31A_ENST00000432794.1_Missense_Mutation_p.C589S|SEC31A_ENST00000508479.1_Missense_Mutation_p.C589S|SEC31A_ENST00000326950.5_Missense_Mutation_p.C550S|SEC31A_ENST00000500777.2_Missense_Mutation_p.C550S|SEC31A_ENST00000448323.1_Missense_Mutation_p.C589S|SEC31A_ENST00000264405.5_Missense_Mutation_p.C322S|SEC31A_ENST00000509142.1_Missense_Mutation_p.C589S|SEC31A_ENST00000348405.4_Missense_Mutation_p.C550S|SEC31A_ENST00000508502.1_Missense_Mutation_p.C589S|SEC31A_ENST00000443462.2_Missense_Mutation_p.C584S|SEC31A_ENST00000355196.2_Missense_Mutation_p.C589S|SEC31A_ENST00000513858.1_Missense_Mutation_p.C550S|SEC31A_ENST00000505984.1_Missense_Mutation_p.C550S|SEC31A_ENST00000505472.1_Missense_Mutation_p.C589S	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	589					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.C589S(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATCATGTAAACAAAGGTCAAC	0.408																																						uc003hnf.2																		SEC31A/JAK2(4)|SEC31A/ALK(3)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(1765-1767)TGT>TCT		SEC31 homolog A isoform 1							82.0	76.0	78.0					4																	83778220		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83778220C>G	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1766G>C	4.37:g.83778220C>G	ENSP00000378721:p.Cys589Ser					SEC31A_uc003hne.2_Missense_Mutation_p.C322S|SEC31A_uc011ccl.1_Missense_Mutation_p.C550S|SEC31A_uc003hnl.2_Missense_Mutation_p.C550S|SEC31A_uc003hng.2_Missense_Mutation_p.C589S|SEC31A_uc003hnh.2_Missense_Mutation_p.C589S|SEC31A_uc003hni.2_Missense_Mutation_p.C589S|SEC31A_uc003hnj.2_Missense_Mutation_p.C550S|SEC31A_uc011ccm.1_Missense_Mutation_p.C584S|SEC31A_uc011ccn.1_Missense_Mutation_p.C589S|SEC31A_uc003hnk.2_Missense_Mutation_p.C550S|SEC31A_uc003hnm.2_Missense_Mutation_p.C589S|SEC31A_uc003hnn.1_Missense_Mutation_p.C589S	p.C589S	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			16	1930	-		Hepatocellular(203;0.114)	589					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.1766G>C	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.053866|5.053866	0.93793|0.93793	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828;ENST00000512664	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T;T	0.68025|0.36157	-0.16;-0.3;1.02;0.96;-0.03;0.79;1.02;-0.16;-0.03;-0.29;-0.3;0.96;1.02;1.93;0.85;1.12;1.35|1.89;1.27	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65291|0.65291	0.2677|0.2677	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	D;D;D;D;P;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.953;1.0;0.998;1.0;1.0|.	D;D;D;D;P;D;D;D;D|.	0.97110|.	1.0;0.993;0.999;1.0;0.899;1.0;0.995;1.0;0.999|.	T|T	0.65841|0.65841	-0.6070|-0.6070	10|7	0.87932|0.39692	D|T	0|0.17	-13.3991|-13.3991	19.949|19.949	0.97192|0.97192	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	584;550;589;550;550;589;589;589;322|.	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7|.	.;.;.;.;.;.;.;SC31A_HUMAN;.|.	S|F	550;550;589;584;589;589;589;550;589;589;550;589;589;322;550;589;177|205;103	ENSP00000337602:C550S;ENSP00000426886:C550S;ENSP00000378721:C589S;ENSP00000408027:C584S;ENSP00000426569:C589S;ENSP00000407944:C589S;ENSP00000400926:C589S;ENSP00000325087:C550S;ENSP00000309070:C589S;ENSP00000421633:C589S;ENSP00000421464:C550S;ENSP00000424635:C589S;ENSP00000347329:C589S;ENSP00000264405:C322S;ENSP00000424451:C550S;ENSP00000425999:C589S;ENSP00000422267:C177S|ENSP00000426562:L205F;ENSP00000424336:L103F	ENSP00000264405:C322S|ENSP00000426562:L205F	C|L	-|-	2|3	0|2	SEC31A|SEC31A	83997244|83997244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	TGT|TTG		PASS	0.408	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		6	56	6	56	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94344073	94344073	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:94344073A>C	ENST00000282020.4	+	10	1757	c.1499A>C	c.(1498-1500)cAa>cCa	p.Q500P	GRID2_ENST00000510992.1_Missense_Mutation_p.Q405P	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	500					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.Q500P(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGAAGCCCACAAGAAGATGGG	0.383																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1498-1500)CAA>CCA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						115.0	115.0	115.0					4																	94344073		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344073A>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1499A>C	4.37:g.94344073A>C	ENSP00000282020:p.Gln500Pro					GRID2_uc011cdu.1_Missense_Mutation_p.Q405P	p.Q500P	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1757	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	500			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1499A>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.268159	0.40095	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11385	2.78;2.78	5.55	4.35	0.52113	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	M	0.71206	2.165	0.80722	D	1	P;P	0.47841	0.721;0.901	B;P	0.46585	0.302;0.521	T	0.01140	-1.1439	10	0.40728	T	0.16	.	11.8596	0.52459	0.8688:0.0:0.0:0.1312	.	405;500	E9PH24;O43424	.;GRID2_HUMAN	P	500;405	ENSP00000282020:Q500P;ENSP00000421257:Q405P	ENSP00000282020:Q500P	Q	+	2	0	GRID2	94563096	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	6.252000	0.72447	0.911000	0.36747	0.528000	0.53228	CAA		PASS	0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			8	50	8	50	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104066284	104066284	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:104066284C>T	ENST00000265148.3	-	32	4869	c.4780G>A	c.(4780-4782)Gaa>Aaa	p.E1594K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1569K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1594					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.E1594K(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTTTCATTTCCTCTTTTTCC	0.343																																						uc003hxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(4780-4782)GAA>AAA		centromere protein E							144.0	135.0	138.0					4																	104066284		2203	4298	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104066284C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4780G>A	4.37:g.104066284C>T	ENSP00000265148:p.Glu1594Lys					CENPE_uc003hxc.1_Missense_Mutation_p.E1569K	p.E1594K	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	32	4870	-			1594			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.4780G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147615	0.37923	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.76060	-0.99;-0.86	4.19	3.35	0.38373	.	.	.	.	.	T	0.81997	0.4941	M	0.66939	2.045	0.32063	N	0.595393	D;D	0.67145	0.996;0.992	D;P	0.72982	0.979;0.82	T	0.81111	-0.1081	9	0.41790	T	0.15	.	9.0836	0.36567	0.0:0.8955:0.0:0.1045	.	1569;1594	Q02224-3;Q02224	.;CENPE_HUMAN	K	1594;1594;1569	ENSP00000265148:E1594K;ENSP00000369365:E1569K	ENSP00000265148:E1594K	E	-	1	0	CENPE	104285733	0.988000	0.35896	0.196000	0.23383	0.249000	0.25844	2.289000	0.43523	0.973000	0.38340	0.551000	0.68910	GAA		PASS	0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				19	83	19	83	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123165066	123165066	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:123165066A>T	ENST00000264501.4	+	31	5173	c.4800A>T	c.(4798-4800)ttA>ttT	p.L1600F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1600F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1600F			Q2LD37	K1109_HUMAN	KIAA1109	1600					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L1600F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGAAACATTAACAGAAGAGT	0.393																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4798-4800)TTA>TTT		fragile site-associated protein							111.0	103.0	106.0					4																	123165066		1864	4091	5955	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123165066A>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4800A>T	4.37:g.123165066A>T	ENSP00000264501:p.Leu1600Phe					KIAA1109_uc003iek.2_Missense_Mutation_p.L219F	p.L1600F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			29	4845	+			1600					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4800A>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.17|13.17	2.157701|2.157701	0.38119|0.38119	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.24151|.	2.46;2.46;1.87|.	5.56|5.56	0.405|0.405	0.16361|0.16361	.|.	0.351880|.	0.17005|.	U|.	0.190722|.	T|.	0.20659|.	0.0497|.	N|N	0.19112|0.19112	0.55|0.55	0.26014|0.26014	N|N	0.981957|0.981957	B;B|.	0.31859|.	0.343;0.232|.	B;B|.	0.30646|.	0.118;0.055|.	T|.	0.26538|.	-1.0100|.	10|.	0.17832|.	T|.	0.49|.	.|.	4.858|4.858	0.13570|0.13570	0.6005:0.0:0.2734:0.1261|0.6005:0.0:0.2734:0.1261	.|.	1599;1600|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	F|L	1600|173	ENSP00000264501:L1600F;ENSP00000373390:L1600F;ENSP00000389925:L1600F|.	ENSP00000264501:L1600F|.	L|X	+|+	3|2	2|2	KIAA1109|KIAA1109	123384516|123384516	0.920000|0.920000	0.31207|0.31207	0.899000|0.899000	0.35326|0.35326	0.997000|0.997000	0.91878|0.91878	0.163000|0.163000	0.16520|0.16520	-0.129000|-0.129000	0.11620|0.11620	0.460000|0.460000	0.39030|0.39030	TTA|TAA		PASS	0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		15	85	15	85	---	---	---	---
TBC1D9	23158	broad.mit.edu	37	4	141543624	141543624	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:141543624C>T	ENST00000442267.2	-	21	3600	c.3526G>A	c.(3526-3528)Gac>Aac	p.D1176N		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1176							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.D1176N(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCAGCTTGTCCTCCTCGTGG	0.667																																						uc010ioj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3526-3528)GAC>AAC		TBC1 domain family, member 9 (with GRAM domain)							49.0	54.0	53.0					4																	141543624		2118	4203	6321	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543624C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3526G>A	4.37:g.141543624C>T	ENSP00000411197:p.Asp1176Asn						p.D1176N	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			21	3798	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1176					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3526G>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017768	0.75161	.	.	ENSG00000109436	ENST00000442267	T	0.09073	3.02	5.01	5.01	0.66863	.	0.103480	0.64402	D	0.000005	T	0.11623	0.0283	L	0.51422	1.61	0.80722	D	1	B	0.31383	0.321	B	0.31812	0.136	T	0.08534	-1.0717	10	0.33940	T	0.23	.	18.3423	0.90309	0.0:1.0:0.0:0.0	.	1176	Q6ZT07	TBCD9_HUMAN	N	1176	ENSP00000411197:D1176N	ENSP00000411197:D1176N	D	-	1	0	TBC1D9	141763074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.777000	0.85628	2.319000	0.78375	0.655000	0.94253	GAC		PASS	0.667	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		4	51	4	51	---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154624935	154624935	+	Silent	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:154624935T>C	ENST00000260010.6	+	1	2284	c.876T>C	c.(874-876)gtT>gtC	p.V292V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	292					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.V292V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TTAATGGAGTTGGTAATTTTA	0.343																																						uc003inq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(874-876)GTT>GTC		toll-like receptor 2 precursor							61.0	65.0	64.0					4																	154624935		2203	4299	6502	SO:0001819	synonymous_variant	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624935T>C	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.876T>C	4.37:g.154624935T>C						TLR2_uc003inr.2_Silent_p.V292V|TLR2_uc003ins.2_Silent_p.V292V	p.V292V	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	1095	+	all_hematologic(180;0.093)	Renal(120;0.117)	292			Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	ENST00000260010.6	37	c.876T>C	CCDS3784.1																																																																																				PASS	0.343	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			17	90	17	90	---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155467273	155467273	+	Splice_Site	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:155467273A>T	ENST00000499023.2	-	5	531		c.e5+1		RNU6-1285P_ENST00000363480.1_RNA|PLRG1_ENST00000302078.5_Splice_Site|PLRG1_ENST00000393905.2_Splice_Site	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AATATTTCATACTTGGTCTGC	0.318																																						uc003iny.2																			1	Unknown(1)		lung(1)		0						c.e5+1		pleiotropic regulator 1 (PRL1 homolog,							60.0	60.0	60.0					4																	155467273		2202	4300	6502	SO:0001630	splice_region_variant	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155467273A>T	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.404+1T>A	4.37:g.155467273A>T						PLRG1_uc003inz.2_Splice_Site_p.K126_splice|PLRG1_uc011cil.1_Intron	p.K135_splice	NM_002669	NP_002660	O43660	PLRG1_HUMAN			5	467	-	all_hematologic(180;0.215)	Renal(120;0.0854)						B3KMK4|Q3KQY5|Q8WUD8	Splice_Site	SNP	ENST00000499023.2	37	c.404_splice	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451382	0.63290	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1307	0.81436	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLRG1	155686723	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.343000	0.79319	2.263000	0.75096	0.533000	0.62120	.		PASS	0.318	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669	Intron	8	58	8	58	---	---	---	---
NPY5R	4889	broad.mit.edu	37	4	164271506	164271506	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr4:164271506C>T	ENST00000515560.1	+	4	1603	c.81C>T	c.(79-81)ttC>ttT	p.F27F	NPY5R_ENST00000506953.1_Silent_p.F27F|NPY5R_ENST00000338566.3_Silent_p.F27F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	27					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|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.F27F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTCTGATTTCCCAGTCTGGG	0.393																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2																			1	Substitution - coding silent(1)		lung(1)	lung(6)|skin(1)	7						c.(79-81)TTC>TTT		neuropeptide Y receptor Y5							78.0	77.0	77.0					4																	164271506		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271506C>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.81C>T	4.37:g.164271506C>T							p.F27F	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	263	+	all_hematologic(180;0.166)	Prostate(90;0.109)	27			Extracellular (Potential).		Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.81C>T	CCDS3804.1																																																																																				PASS	0.393	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		6	85	6	85	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	484789	484789	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:484789C>G	ENST00000264938.3	-	5	787	c.778G>C	c.(778-780)Ggg>Cgg	p.G260R	SLC9A3_ENST00000514375.1_Missense_Mutation_p.G260R	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	260					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.G260R(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGCGTGCCCCCCAGGCTCACC	0.662																																						uc003jbe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GGG>CGG		solute carrier family 9 (sodium/hydrogen							109.0	93.0	99.0					5																	484789		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:484789C>G		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.778G>C	5.37:g.484789C>G	ENSP00000264938:p.Gly260Arg					SLC9A3_uc011clx.1_Missense_Mutation_p.G260R	p.G260R	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		5	890	-			260			Helical; Name=H/M6; (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.778G>C	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721240	0.89205	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.20332	2.08;2.08	4.45	4.45	0.53987	Cation/H+ exchanger (1);	0.183712	0.47455	D	0.000226	T	0.59851	0.2224	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75331	-0.3355	10	0.87932	D	0	.	16.7077	0.85376	0.0:1.0:0.0:0.0	.	260;260	E9PF67;P48764	.;SL9A3_HUMAN	R	260	ENSP00000264938:G260R;ENSP00000422983:G260R	ENSP00000264938:G260R	G	-	1	0	SLC9A3	537789	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.453000	0.80700	2.032000	0.59987	0.561000	0.74099	GGG		PASS	0.662	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		10	147	10	147	---	---	---	---
ZNF622	90441	broad.mit.edu	37	5	16465211	16465211	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:16465211C>T	ENST00000308683.2	-	1	690	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	188					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K188K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTGCCAACTTCTTCGCCTGCT	0.622																																						uc003jfq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(562-564)AAG>AAA		zinc finger protein 622							86.0	100.0	95.0					5																	16465211		2203	4300	6503	SO:0001819	synonymous_variant	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465211C>T	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.564G>A	5.37:g.16465211C>T							p.K188K	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			1	684	-			188						Silent	SNP	ENST00000308683.2	37	c.564G>A	CCDS3886.1																																																																																				PASS	0.622	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		27	416	27	416	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19473700	19473700	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:19473700C>A	ENST00000507958.1	-	15	2998	c.2008G>T	c.(2008-2010)Gcc>Tcc	p.A670S	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.A670S|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A670S			Q13634	CAD18_HUMAN	cadherin 18, type 2	670					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A670S(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGTCAAAGGCCTCTGTGTCT	0.522																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2008-2010)GCC>TCC		cadherin 18, type 2 preproprotein							154.0	148.0	150.0					5																	19473700		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473700C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2008G>T	5.37:g.19473700C>A	ENSP00000425093:p.Ala670Ser					CDH18_uc003jgd.2_Missense_Mutation_p.A670S|CDH18_uc011cnm.1_3'UTR	p.A670S	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2385	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		670			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2008G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734493	0.89482	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.79454	-1.27;-1.27;-1.27	6.16	5.29	0.74685	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.67517	2.055	0.54753	D	0.999988	D	0.55385	0.971	D	0.64506	0.926	D	0.85839	0.1396	9	.	.	.	.	16.2932	0.82760	0.0:0.8674:0.1326:0.0	.	670	Q13634	CAD18_HUMAN	S	670	ENSP00000371710:A670S;ENSP00000425093:A670S;ENSP00000274170:A670S	.	A	-	1	0	CDH18	19509457	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.813000	0.86123	1.600000	0.50102	0.650000	0.86243	GCC		PASS	0.522	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		202	165	202	165	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40841657	40841657	+	Missense_Mutation	SNP	G	G	C	rs563303368		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:40841657G>C	ENST00000254691.5	+	1	372	c.173G>C	c.(172-174)cGg>cCg	p.R58P	CARD6_ENST00000381677.3_Missense_Mutation_p.R58P	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	58	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.R58P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAGAAAAGTCGGAAGCTGTTA	0.428																																						uc003jmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(172-174)CGG>CCG		caspase recruitment domain family, member 6							109.0	113.0	112.0					5																	40841657		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40841657G>C	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.173G>C	5.37:g.40841657G>C	ENSP00000254691:p.Arg58Pro						p.R58P	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			1	248	+			58			CARD.		Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.173G>C	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415884	0.42817	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.32753	1.44;1.44	4.88	1.16	0.20824	DEATH-like (2);Caspase Recruitment (3);	0.417646	0.20081	N	0.099659	T	0.45677	0.1354	M	0.63843	1.955	0.19775	N	0.999952	D	0.71674	0.998	D	0.74023	0.982	T	0.24870	-1.0148	10	0.87932	D	0	-1.6354	6.8559	0.24040	0.3814:0.0:0.6186:0.0	.	58	Q9BX69	CARD6_HUMAN	P	58	ENSP00000254691:R58P;ENSP00000371093:R58P	ENSP00000254691:R58P	R	+	2	0	CARD6	40877414	0.000000	0.05858	0.143000	0.22291	0.428000	0.31595	0.449000	0.21744	0.028000	0.15324	-0.251000	0.11542	CGG		PASS	0.428	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			20	190	20	190	---	---	---	---
C6	729	broad.mit.edu	37	5	41176712	41176712	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:41176712G>C	ENST00000263413.3	-	8	1297	c.1033C>G	c.(1033-1035)Ctg>Gtg	p.L345V	C6_ENST00000337836.5_Missense_Mutation_p.L345V|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	345	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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.L345V(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)				TCTAGAGGCAGATGGTTAAGT	0.408																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1033-1035)CTG>GTG		complement component 6 precursor							140.0	134.0	136.0					5																	41176712		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41176712G>C	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.1033C>G	5.37:g.41176712G>C	ENSP00000263413:p.Leu345Val					C6_uc003jml.1_Missense_Mutation_p.L345V	p.L345V	NM_000065	NP_000056	P13671	CO6_HUMAN			8	1243	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	345			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1033C>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816643	0.90790	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.90197	-2.63;-2.63	5.65	5.65	0.86999	Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.96620	0.8897	M	0.92268	3.29	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.96629	0.9465	10	0.66056	D	0.02	-8.7851	19.9142	0.97043	0.0:0.0:1.0:0.0	.	345	P13671	CO6_HUMAN	V	345	ENSP00000338861:L345V;ENSP00000263413:L345V	ENSP00000263413:L345V	L	-	1	2	C6	41212469	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.102000	0.77005	2.941000	0.99782	0.655000	0.94253	CTG		PASS	0.408	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			13	127	13	127	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70757692	70757692	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:70757692G>C	ENST00000358731.4	+	3	801	c.538G>C	c.(538-540)Gat>Cat	p.D180H	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	180	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D180H(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGGCCACCAGATCGTTCAAA	0.279																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(538-540)GAT>CAT		transcription factor-like nuclear regulator							81.0	86.0	85.0					5																	70757692		1885	4118	6003	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70757692G>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.538G>C	5.37:g.70757692G>C	ENSP00000351575:p.Asp180His					BDP1_uc003kbn.1_Missense_Mutation_p.D180H|BDP1_uc003kbo.2_Missense_Mutation_p.D180H	p.D180H	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	3	801	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	180			Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.538G>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467199	0.84533	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.25414	1.8	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.56402	-0.7985	10	0.87932	D	0	.	18.1686	0.89737	0.0:0.0:1.0:0.0	.	180;180;180	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	H	180	ENSP00000351575:D180H	ENSP00000351575:D180H	D	+	1	0	BDP1	70793448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.651000	0.90000	0.557000	0.71058	GAT		PASS	0.279	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		4	130	4	130	---	---	---	---
CARTPT	9607	broad.mit.edu	37	5	71015177	71015177	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:71015177G>T	ENST00000296777.4	+	1	188	c.57G>T	c.(55-57)atG>atT	p.M19I		NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	19					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)		p.M19I(1)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TGCTGCTGATGCTACCTCTGT	0.667																																						uc003kbv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(55-57)ATG>ATT		cocaine- and amphetamine-regulated transcript	Amphetamine(DB00182)						63.0	63.0	63.0					5																	71015177		2203	4300	6503	SO:0001583	missense	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71015177G>T	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.57G>T	5.37:g.71015177G>T	ENSP00000296777:p.Met19Ile						p.M19I	NM_004291	NP_004282	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	1	184	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	19					Q6FG92	Missense_Mutation	SNP	ENST00000296777.4	37	c.57G>T	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661835	0.14645	.	.	ENSG00000164326	ENST00000296777	T	0.51817	0.69	4.24	3.32	0.38043	.	0.502057	0.18972	N	0.126102	T	0.24470	0.0593	N	0.03608	-0.345	0.21933	N	0.999468	B	0.02656	0.0	B	0.01281	0.0	T	0.14337	-1.0476	10	0.28530	T	0.3	.	12.6858	0.56946	0.0:0.3727:0.6273:0.0	.	19	Q16568	CART_HUMAN	I	19	ENSP00000296777:M19I	ENSP00000296777:M19I	M	+	3	0	CARTPT	71050933	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	2.648000	0.46647	0.990000	0.38787	0.561000	0.74099	ATG		PASS	0.667	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291		4	72	4	72	---	---	---	---
APC	324	broad.mit.edu	37	5	112174552	112174552	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:112174552C>T	ENST00000457016.1	+	16	3641	c.3261C>T	c.(3259-3261)ctC>ctT	p.L1087L	APC_ENST00000257430.4_Silent_p.L1087L|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.L1087L			P25054	APC_HUMAN	adenomatous polyposis coli	1087	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.L1087L(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATAAACACCTCAAGTTCCAAC	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		2	Unknown(1)|Substitution - coding silent(1)	p.?(1)	lung(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(3259-3261)CTC>CTT		adenomatous polyposis coli							85.0	80.0	82.0					5																	112174552		2202	4300	6502	SO:0001819	synonymous_variant	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174552C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3261C>T	5.37:g.112174552C>T		TSP Lung(16;0.13)				APC_uc011cvt.1_Silent_p.L1069L|APC_uc003kpz.3_Silent_p.L1087L|APC_uc003kpy.3_Silent_p.L1087L|APC_uc010jbz.2_Silent_p.L804L|APC_uc010jca.2_Silent_p.L387L	p.L1087L	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3641	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1087			Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.3261C>T	CCDS4107.1																																																																																				PASS	0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		3	56	3	56	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773546	140773546	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:140773546A>T	ENST00000398604.2	+	1	1166	c.1166A>T	c.(1165-1167)aAt>aTt	p.N389I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N389I(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGTGATAATTTACCTTTT	0.353																																						uc003lkd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1165-1167)AAT>ATT		protocadherin gamma subfamily A, 8 isoform 1							37.0	37.0	37.0					5																	140773546		1837	4082	5919	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140773546A>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1166A>T	5.37:g.140773546A>T	ENSP00000381605:p.Asn389Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.N389I	p.N389I	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2064	+			389			Cadherin 4.|Extracellular (Potential).		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1166A>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	7.207	0.594552	0.13875	.	.	ENSG00000253767	ENST00000398604	T	0.52754	0.65	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.266767	0.18454	U	0.140760	T	0.63510	0.2517	M	0.92691	3.335	0.09310	N	1	P;P	0.44281	0.831;0.827	P;P	0.49597	0.616;0.583	T	0.66240	-0.5973	10	0.56958	D	0.05	.	5.7894	0.18351	0.7714:0.0:0.0791:0.1495	.	389;389	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	I	389	ENSP00000381605:N389I	ENSP00000381605:N389I	N	+	2	0	PCDHGA8	140753730	0.040000	0.19996	0.146000	0.22360	0.016000	0.09150	3.355000	0.52262	2.064000	0.61679	0.533000	0.62120	AAT		PASS	0.353	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		6	38	6	38	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	152873579	152873579	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:152873579G>T	ENST00000285900.5	+	2	517	c.174G>T	c.(172-174)caG>caT	p.Q58H	GRIA1_ENST00000518142.1_Missense_Mutation_p.Q58H|GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.Q68H|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.Q58H|GRIA1_ENST00000448073.4_Missense_Mutation_p.Q68H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	58					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.Q58H(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGCTCCCCCAGATTGATATTG	0.443																																						uc003lva.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(172-174)CAG>CAT		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						95.0	95.0	95.0					5																	152873579		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:152873579G>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.174G>T	5.37:g.152873579G>T	ENSP00000285900:p.Gln58His					GRIA1_uc003luy.3_Missense_Mutation_p.Q58H|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Missense_Mutation_p.Q58H|GRIA1_uc011dcx.1_5'UTR|GRIA1_uc011dcy.1_Missense_Mutation_p.Q68H|GRIA1_uc011dcz.1_Missense_Mutation_p.Q68H|GRIA1_uc010jia.1_Missense_Mutation_p.Q38H	p.Q58H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	539	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	58			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.174G>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316716	0.60524	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000518783;ENST00000448073	T;T;T;T;T	0.21734	1.99;2.84;1.99;1.99;1.99	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	0.230823	0.45361	D	0.000378	T	0.26955	0.0660	N	0.16790	0.44	0.80722	D	1	D;D;D;D;P;B	0.57571	0.979;0.979;0.98;0.979;0.949;0.004	P;P;D;P;B;B	0.66979	0.535;0.535;0.948;0.535;0.4;0.006	T	0.01853	-1.1260	10	0.06236	T	0.91	.	18.3214	0.90239	0.0:0.0:1.0:0.0	.	68;68;58;68;58;58	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	58;58;58;58;68;68	ENSP00000285900:Q58H;ENSP00000427920:Q58H;ENSP00000339343:Q58H;ENSP00000428994:Q68H;ENSP00000415569:Q68H	ENSP00000285900:Q58H	Q	+	3	2	GRIA1	152853772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.582000	0.60957	2.548000	0.85928	0.655000	0.94253	CAG		PASS	0.443	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			22	116	22	116	---	---	---	---
FAXDC2	10826	broad.mit.edu	37	5	154202038	154202038	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:154202038C>A	ENST00000326080.5	-	7	1095	c.672G>T	c.(670-672)gaG>gaT	p.E224D	FAXDC2_ENST00000523997.1_5'Flank|FAXDC2_ENST00000517938.1_Missense_Mutation_p.E201D	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	224					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.E224D(1)									TCACTGCATGCTCTATAGGGT	0.537																																						uc003lvs.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(670-672)GAG>GAT		hypothetical protein LOC10826							234.0	219.0	224.0					5																	154202038		1944	4143	6087	SO:0001583	missense	10826				fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity	g.chr5:154202038C>A	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.672G>T	5.37:g.154202038C>A	ENSP00000320604:p.Glu224Asp					C5orf4_uc003lvq.2_5'Flank|C5orf4_uc003lvr.2_5'Flank|C5orf4_uc011dde.1_Missense_Mutation_p.E201D	p.E224D	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		7	843	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	224			Helical; (Potential).		B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	c.672G>T	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156946	0.57259	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	D;D	0.85702	-2.02;-2.02	5.27	0.331	0.15933	Fatty acid hydroxylase (1);	0.093194	0.64402	D	0.000001	D	0.89266	0.6666	M	0.76838	2.35	0.80722	D	1	D	0.65815	0.995	D	0.72338	0.977	D	0.85624	0.1266	10	0.56958	D	0.05	.	6.0291	0.19671	0.0:0.4959:0.1271:0.377	.	224	Q96IV6	CE004_HUMAN	D	224;201	ENSP00000320604:E224D;ENSP00000430286:E201D	ENSP00000320604:E224D	E	-	3	2	C5orf4	154182231	0.992000	0.36948	0.441000	0.26858	0.192000	0.23643	0.369000	0.20416	-0.022000	0.13986	0.555000	0.69702	GAG		PASS	0.537	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		16	166	16	166	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160047859	160047859	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:160047859G>A	ENST00000327245.5	-	15	2757	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	637					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F637F(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTGGATGAGAATGACTGGC	0.552																																						uc003lym.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1909-1911)TTC>TTT		ATPase, class V, type 10B							116.0	119.0	118.0					5																	160047859		2087	4222	6309	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047859G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1911C>T	5.37:g.160047859G>A						ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Silent_p.F195F	p.F637F	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2758	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	637			Cytoplasmic (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.1911C>T	CCDS43394.1																																																																																				PASS	0.552	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		21	179	21	179	---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167850747	167850747	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr5:167850747C>G	ENST00000265293.4	+	11	1986	c.1484C>G	c.(1483-1485)tCa>tGa	p.S495*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.S495*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	495					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.S495*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TTCCGGCCCTCAGGCTGCATC	0.632																																						uc003lzu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|breast(1)	5						c.(1483-1485)TCA>TGA		WW and C2 domain containing 1 isoform 3							55.0	58.0	57.0					5																	167850747		2203	4300	6503	SO:0001587	stop_gained	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167850747C>G	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1484C>G	5.37:g.167850747C>G	ENSP00000265293:p.Ser495*					WWC1_uc003lzv.2_Nonsense_Mutation_p.S495*|WWC1_uc011den.1_Nonsense_Mutation_p.S495*|WWC1_uc003lzw.2_Nonsense_Mutation_p.S294*	p.S495*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	11	1577	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	495					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Nonsense_Mutation	SNP	ENST00000265293.4	37	c.1484C>G	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417647	0.96092	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	.	.	.	5.22	5.22	0.72569	.	0.146323	0.47852	D	0.000214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.8007	0.92015	0.0:1.0:0.0:0.0	.	.	.	.	X	495	.	ENSP00000265293:S495X	S	+	2	0	WWC1	167783325	1.000000	0.71417	0.664000	0.29753	0.729000	0.41735	5.928000	0.70088	2.437000	0.82529	0.655000	0.94253	TCA		PASS	0.632	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		13	70	13	70	---	---	---	---
HIST1H2AG	8969	broad.mit.edu	37	6	27100914	27100914	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:27100914G>C	ENST00000359193.2	+	1	83	c.64G>C	c.(64-66)Gcc>Ccc	p.A22P	HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	22						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A22P(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CTCTTCTAGGGCCGGTCTCCA	0.647																																						uc003niw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GCC>CCC		histone cluster 1, H2ag							35.0	41.0	39.0					6																	27100914		2203	4300	6503	SO:0001583	missense	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27100914G>C	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.64G>C	6.37:g.27100914G>C	ENSP00000352119:p.Ala22Pro					HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	p.A22P	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN			1	98	+			22					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359193.2	37	c.64G>C	CCDS4619.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547444	0.27652	.	.	ENSG00000196787	ENST00000359193	T	0.70631	-0.5	4.08	4.08	0.47627	Histone-fold (2);Histone core (1);Histone H2A (3);	0.000000	0.39909	N	0.001232	T	0.80502	0.4635	.	.	.	0.42015	D	0.990953	D	0.60160	0.987	D	0.79108	0.992	D	0.83646	0.0153	9	0.87932	D	0	.	14.6102	0.68510	0.0:0.0:1.0:0.0	.	22	P0C0S8	H2A1_HUMAN	P	22	ENSP00000352119:A22P	ENSP00000352119:A22P	A	+	1	0	HIST1H2AG	27208893	1.000000	0.71417	0.304000	0.25085	0.005000	0.04900	8.726000	0.91474	2.217000	0.71921	0.655000	0.94253	GCC		PASS	0.647	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		13	42	13	42	---	---	---	---
OR2B2	81697	broad.mit.edu	37	6	27879783	27879783	+	Silent	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:27879783C>A	ENST00000303324.2	-	1	391	c.315G>T	c.(313-315)ctG>ctT	p.L105L		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L105L(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AACCCAAGGCCAGGAAAATGA	0.453																																						uc011dkw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)CTG>CTT		olfactory receptor, family 2, subfamily B,							118.0	105.0	110.0					6																	27879783		2203	4300	6503	SO:0001819	synonymous_variant	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879783C>A	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.315G>T	6.37:g.27879783C>A							p.L105L	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	315	-			105			Helical; Name=3; (Potential).		B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	c.315G>T	CCDS4641.1																																																																																				PASS	0.453	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			5	75	5	75	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29911061	29911061	+	Missense_Mutation	SNP	G	G	C	rs199474481|rs281864748		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:29911061G>C	ENST00000396634.1	+	5	701	c.360G>C	c.(358-360)caG>caC	p.Q120H	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q120H|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q120H|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q120H			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	120	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q120H(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACACCATCCAGATAATGTATG	0.662									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(358-360)CAG>CAC		major histocompatibility complex, class I, A							21.0	17.0	19.0					6																	29911061		1485	2631	4116	SO:0001583	missense	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911061G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.360G>C	6.37:g.29911061G>C	ENSP00000379873:p.Gln120His	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q120H|HLA-A_uc003noo.2_Missense_Mutation_p.Q120H|HLA-A_uc010jrr.2_Missense_Mutation_p.Q120H|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q92H|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.Q120H	NM_002116	NP_002107	P30443	1A01_HUMAN			3	360	+			120			Extracellular (Potential).|Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.360G>C	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	12.23	1.874741	0.33069	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00293	8.26;8.26;8.26;8.26	3.78	2.91	0.33838	MHC class I, alpha chain, alpha1/alpha2 (6);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	0.000000	0.34362	U	0.004032	T	0.00356	0.0011	H	0.99994	5.41	0.29089	N	0.882223	B;B;B;B;B	0.14012	0.009;0.002;0.009;0.004;0.009	B;B;B;B;B	0.20955	0.032;0.008;0.032;0.021;0.032	T	0.55431	-0.8142	10	0.87932	D	0	.	9.1826	0.37152	0.1112:0.0:0.8888:0.0	.	120;120;120;120;120	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	H	120	ENSP00000379873:Q120H;ENSP00000366002:Q120H;ENSP00000366005:Q120H;ENSP00000365998:Q120H	ENSP00000348012:Q120H	Q	+	3	2	HLA-A	30019040	1.000000	0.71417	0.072000	0.20136	0.013000	0.08279	4.736000	0.62059	0.931000	0.37242	0.485000	0.47835	CAG		PASS	0.662	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	8	4	8	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32020577	32020577	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:32020577C>T	ENST00000375244.3	-	26	9186	c.8985G>A	c.(8983-8985)gtG>gtA	p.V2995V	TNXB_ENST00000375247.2_Silent_p.V2993V			P22105	TENX_HUMAN	tenascin XB	3040	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.V2995V(1)|p.V3071V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGACACGCACCACCTGGGGCC	0.677																																						uc003nzl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(8977-8979)GTG>GTA		tenascin XB isoform 1 precursor							41.0	45.0	44.0					6																	32020577		1250	2531	3781	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32020577C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8985G>A	6.37:g.32020577C>T							p.V2993V	NM_019105	NP_061978	P22105	TENX_HUMAN			26	9181	-			3040			Fibronectin type-III 22.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.8979G>A																																																																																					PASS	0.677	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		7	59	7	59	---	---	---	---
CLPS	1208	broad.mit.edu	37	6	35765000	35765000	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:35765000C>T	ENST00000259938.2	-	1	88	c.66G>A	c.(64-66)cgG>cgA	p.R22R		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	22					lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme activator activity (GO:0008047)	p.R22R(1)		large_intestine(2)|lung(2)|prostate(1)	5						TAATGATCCCCCGGGGGCCAG	0.592																																					Melanoma(167;2962 3494 37796)	uc003ole.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)CGG>CGA		colipase preproprotein							84.0	81.0	82.0					6																	35765000		2203	4300	6503	SO:0001819	synonymous_variant	1208				lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region		g.chr6:35765000C>T		CCDS4811.1, CCDS75437.1, CCDS75438.1	6p21.31	2012-02-06			ENSG00000137392	ENSG00000137392			2085	protein-coding gene	gene with protein product		120105				2045105	Standard	NM_001832		Approved		uc003ole.2	P04118	OTTHUMG00000014578	ENST00000259938.2:c.66G>A	6.37:g.35765000C>T						CLPS_uc003olf.1_Silent_p.R22R	p.R22R	NM_001832	NP_001823	P04118	COL_HUMAN			1	103	-			22					Q5T9G7|Q5U809	Silent	SNP	ENST00000259938.2	37	c.66G>A	CCDS4811.1																																																																																				PASS	0.592	CLPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040312.1	NM_001832		5	106	5	106	---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39835470	39835470	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:39835470G>T	ENST00000398904.2	+	6	795	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	DAAM2_ENST00000274867.4_Missense_Mutation_p.A205S|DAAM2_ENST00000538976.1_Missense_Mutation_p.A205S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	205	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.A205S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TAGTACCATAGCCCAGAGCCT	0.582																																						uc003oow.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(613-615)GCC>TCC		dishevelled associated activator of							61.0	65.0	64.0					6																	39835470		2163	4271	6434	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39835470G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.613G>T	6.37:g.39835470G>T	ENSP00000381876:p.Ala205Ser					DAAM2_uc010jxc.2_Missense_Mutation_p.A205S|DAAM2_uc003oox.2_Missense_Mutation_p.A205S	p.A205S	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			6	769	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		205			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.613G>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969516	0.74246	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.91464	-2.85;-2.85;-2.85	5.52	5.52	0.82312	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.059182	0.64402	D	0.000002	D	0.82921	0.5142	L	0.48935	1.535	0.80722	D	1	B;B	0.16603	0.014;0.018	B;B	0.21151	0.019;0.033	T	0.80353	-0.1418	10	0.46703	T	0.11	.	13.965	0.64202	0.0:0.0:0.8096:0.1904	.	205;205	G5EA45;Q86T65	.;DAAM2_HUMAN	S	205	ENSP00000274867:A205S;ENSP00000381876:A205S;ENSP00000437808:A205S	ENSP00000274867:A205S	A	+	1	0	DAAM2	39943448	0.992000	0.36948	0.840000	0.33206	0.925000	0.55904	2.214000	0.42853	2.587000	0.87381	0.561000	0.74099	GCC		PASS	0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			5	71	5	71	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69949088	69949088	+	Silent	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:69949088A>T	ENST00000370598.1	+	20	3605	c.2784A>T	c.(2782-2784)atA>atT	p.I928I	BAI3_ENST00000238918.8_Silent_p.I134I	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	928					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I928I(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATATCCTCATACTGGTTGGAC	0.348																																						uc003pev.3																			1	Substitution - coding silent(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2782-2784)ATA>ATT		brain-specific angiogenesis inhibitor 3							167.0	159.0	162.0					6																	69949088		2203	4298	6501	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949088A>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2784A>T	6.37:g.69949088A>T						BAI3_uc010kak.2_Silent_p.I928I|BAI3_uc011dxx.1_Silent_p.I134I|BAI3_uc003pex.1_Silent_p.I58I	p.I928I	NM_001704	NP_001695	O60242	BAI3_HUMAN			20	3232	+		all_lung(197;0.212)	928			Helical; Name=2; (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.2784A>T	CCDS4968.1																																																																																				PASS	0.348	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			31	152	31	152	---	---	---	---
DDX43	55510	broad.mit.edu	37	6	74124385	74124385	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:74124385G>A	ENST00000370336.4	+	14	1879	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	574	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.R574Q(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TACGTACACCGAATAGGGCGC	0.433																																						uc003pgw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1720-1722)CGA>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							125.0	112.0	116.0					6																	74124385		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74124385G>A		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1721G>A	6.37:g.74124385G>A	ENSP00000359361:p.Arg574Gln						p.R574Q	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN			14	2065	+			574			Helicase C-terminal.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.1721G>A	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065934	0.76187	.	.	ENSG00000080007	ENST00000370336	D	0.82344	-1.6	4.3	4.3	0.51218	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.94624	0.7816	10	0.87932	D	0	-21.4786	16.8753	0.86051	0.0:0.0:1.0:0.0	.	574	Q9NXZ2	DDX43_HUMAN	Q	574	ENSP00000359361:R574Q	ENSP00000359361:R574Q	R	+	2	0	DDX43	74181106	1.000000	0.71417	0.995000	0.50966	0.195000	0.23768	8.921000	0.92784	2.358000	0.79984	0.650000	0.86243	CGA		PASS	0.433	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		8	67	8	67	---	---	---	---
TRAF3IP2	10758	broad.mit.edu	37	6	111901417	111901417	+	Silent	SNP	C	C	A	rs117922343		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:111901417C>A	ENST00000340026.6	-	4	1626	c.1032G>T	c.(1030-1032)ccG>ccT	p.P344P	TRAF3IP2_ENST00000359831.4_Silent_p.P335P|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Silent_p.P335P|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000607066.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	344					B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.P344P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TTGGAAGCCCCGGAAAGGAGC	0.512																																						uc011ebc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1003-1005)CCG>CCT		TRAF3 interacting protein 2 isoform 2							39.0	39.0	39.0					6																	111901417		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111901417C>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1032G>T	6.37:g.111901417C>A						TRAF3IP2_uc003pvg.2_Silent_p.P335P|TRAF3IP2_uc003pvf.2_Silent_p.P335P|TRAF3IP2_uc010kdw.2_Silent_p.P335P|TRAF3IP2_uc010kdx.2_Silent_p.P335P	p.P335P	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	4	1620	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	344					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.1005G>T																																																																																					PASS	0.512	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			3	36	3	36	---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768672	121768672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:121768672G>T	ENST00000282561.3	+	2	836	c.679G>T	c.(679-681)Gaa>Taa	p.E227*		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	227					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.E227*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GAATATCATTGAACTCTTCTA	0.512																																						uc003pyr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(679-681)GAA>TAA		connexin 43	Carvedilol(DB01136)						135.0	136.0	136.0					6																	121768672		2203	4300	6503	SO:0001587	stop_gained	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768672G>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.679G>T	6.37:g.121768672G>T	ENSP00000282561:p.Glu227*					GJA1_uc011ebo.1_Nonsense_Mutation_p.E128*|GJA1_uc011ebp.1_Nonsense_Mutation_p.E15*	p.E227*	NM_000165	NP_000156	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	929	+			227			Helical; (Potential).		B2R5U9|Q6FHU1|Q9Y5I8	Nonsense_Mutation	SNP	ENST00000282561.3	37	c.679G>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105746	0.77096	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0796	0.97766	0.0:0.0:1.0:0.0	.	.	.	.	X	211;227	.	ENSP00000282561:E227X	E	+	1	0	GJA1	121810371	1.000000	0.71417	0.998000	0.56505	0.158000	0.22134	9.813000	0.99286	2.758000	0.94735	0.460000	0.39030	GAA		PASS	0.512	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		30	166	30	166	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129513971	129513971	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:129513971C>T	ENST00000421865.2	+	12	1804	c.1755C>T	c.(1753-1755)agC>agT	p.S585S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	585	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.S585S(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTACTGGAGCGCGCCGGCTC	0.552																																						uc003qbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(1753-1755)AGC>AGT		laminin alpha 2 subunit isoform a precursor							32.0	34.0	33.0					6																	129513971		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129513971C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1755C>T	6.37:g.129513971C>T						LAMA2_uc003qbo.2_Silent_p.S585S	p.S585S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	12	1860	+			585			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.1755C>T	CCDS5138.1																																																																																				PASS	0.552	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	46	7	46	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136597477	136597477	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:136597477C>A	ENST00000531224.1	-	5	1438	c.1186G>T	c.(1186-1188)Gat>Tat	p.D396Y	BCLAF1_ENST00000527759.1_Missense_Mutation_p.D394Y|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D394Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D396Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D394Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	396					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D396Y(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTTCTGAATCATTAAACTTT	0.443																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1186-1188)GAT>TAT		BCL2-associated transcription factor 1 isoform							313.0	326.0	322.0					6																	136597477		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597477C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1186G>T	6.37:g.136597477C>A	ENSP00000435210:p.Asp396Tyr					BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.D394Y|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.D394Y	p.D396Y	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1439	-	Colorectal(23;0.24)		396					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1186G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066047	0.55539	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000002	T	0.10508	0.0257	N	0.08118	0	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.994	P;D;P	0.65684	0.889;0.937;0.889	T	0.20538	-1.0272	10	0.54805	T	0.06	-13.4008	13.0848	0.59133	0.0:0.9265:0.0:0.0735	.	394;394;396	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	Y	396;394;396;394;394;396	ENSP00000435210:D396Y;ENSP00000229446:D394Y;ENSP00000435441:D396Y;ENSP00000434826:D394Y;ENSP00000376159:D394Y;ENSP00000431734:D396Y	ENSP00000229446:D394Y	D	-	1	0	BCLAF1	136639170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.623000	0.61247	2.775000	0.95449	0.650000	0.86243	GAT		PASS	0.443	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		25	554	25	554	---	---	---	---
HECA	51696	broad.mit.edu	37	6	139487474	139487474	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:139487474G>C	ENST00000367658.2	+	2	610	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	109					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.E109Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGTGGACCTGGAGAAGGACGA	0.557																																						uc003qin.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GAG>CAG		headcase							102.0	96.0	98.0					6																	139487474		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487474G>C	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.325G>C	6.37:g.139487474G>C	ENSP00000356630:p.Glu109Gln						p.E109Q	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	610	+			109						Missense_Mutation	SNP	ENST00000367658.2	37	c.325G>C	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235731	0.79800	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.02	5.02	0.67125	.	0.096845	0.64402	D	0.000001	T	0.53254	0.1785	L	0.46157	1.445	0.80722	D	1	P	0.37370	0.592	B	0.41374	0.355	T	0.60337	-0.7283	9	0.62326	D	0.03	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	109	Q9UBI9	HDC_HUMAN	Q	109	.	ENSP00000356630:E109Q	E	+	1	0	HECA	139529167	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.166000	0.94766	2.767000	0.95098	0.655000	0.94253	GAG		PASS	0.557	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		5	168	5	168	---	---	---	---
VTA1	51534	broad.mit.edu	37	6	142487437	142487437	+	Missense_Mutation	SNP	A	A	G	rs373907353		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:142487437A>G	ENST00000367630.4	+	2	243	c.185A>G	c.(184-186)aAg>aGg	p.K62R	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	62	Interaction with CHMP5.|Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.K62R(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTTTTATCAAAGTTAATGGAT	0.323																																						uc003qiw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)AAG>AGG		Vps20-associated 1 homolog							106.0	107.0	107.0					6																	142487437		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142487437A>G	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.185A>G	6.37:g.142487437A>G	ENSP00000356602:p.Lys62Arg					VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Intron	p.K62R	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	2	200	+	Breast(32;0.155)		62			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.185A>G	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447812	0.63178	.	.	ENSG00000009844	ENST00000367630;ENST00000427932	T	0.48522	0.81	5.55	4.39	0.52855	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.044531	0.85682	N	0.000000	T	0.37210	0.0995	M	0.62723	1.935	0.80722	D	1	P	0.41188	0.741	P	0.48334	0.574	T	0.18745	-1.0327	10	0.21540	T	0.41	-12.7682	11.377	0.49735	0.9291:0.0:0.0709:0.0	.	62	Q9NP79	VTA1_HUMAN	R	62;63	ENSP00000356602:K62R	ENSP00000356602:K62R	K	+	2	0	VTA1	142529130	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.400000	0.73252	0.934000	0.37316	0.533000	0.62120	AAG		PASS	0.323	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		23	65	23	65	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151914290	151914290	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:151914290A>T	ENST00000239374.7	+	8	1441	c.1342A>T	c.(1342-1344)Atg>Ttg	p.M448L	CCDC170_ENST00000367290.5_Missense_Mutation_p.M448L	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	448								p.M448L(1)									GTTGGACCAGATGGCTGCCGA	0.433																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1342-1344)ATG>TTG		hypothetical protein LOC80129							113.0	103.0	106.0					6																	151914290		1898	4131	6029	SO:0001583	missense	80129							g.chr6:151914290A>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1342A>T	6.37:g.151914290A>T	ENSP00000239374:p.Met448Leu						p.M448L	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	8	1431	+		Ovarian(120;0.126)	448					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1342A>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.313420	0.40996	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08807	3.05;3.05	5.87	0.811	0.18739	.	0.347524	0.34386	N	0.004017	T	0.02267	0.0070	M	0.63428	1.95	0.22961	N	0.998508	B	0.23316	0.083	B	0.17098	0.017	T	0.46721	-0.9171	10	0.16420	T	0.52	-6.2162	6.6187	0.22790	0.5601:0.1207:0.3192:0.0	.	448	Q8IYT3	CF097_HUMAN	L	448	ENSP00000239374:M448L;ENSP00000356259:M448L	ENSP00000239374:M448L	M	+	1	0	C6orf97	151955983	0.636000	0.27207	0.997000	0.53966	0.978000	0.69477	0.562000	0.23531	0.190000	0.20209	0.533000	0.62120	ATG		PASS	0.433	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		24	48	24	48	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152763321	152763321	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:152763321C>T	ENST00000367255.5	-	31	4498	c.3897G>A	c.(3895-3897)gcG>gcA	p.A1299A	SYNE1_ENST00000265368.4_Silent_p.A1299A|SYNE1_ENST00000341594.5_Silent_p.A1365A|SYNE1_ENST00000367253.4_Silent_p.A1299A|SYNE1_ENST00000423061.1_Silent_p.A1306A|SYNE1_ENST00000367248.3_Silent_p.A1289A|SYNE1_ENST00000448038.1_Silent_p.A1306A|SYNE1_ENST00000413186.2_Silent_p.A1299A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A1299A(2)|p.A1306A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCCTGCTGCGCCTGCGCGA	0.567										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3895-3897)GCG>GCA		spectrin repeat containing, nuclear envelope 1							76.0	68.0	71.0					6																	152763321		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763321C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3897G>A	6.37:g.152763321C>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.A1306A|SYNE1_uc003qou.3_Silent_p.A1299A|SYNE1_uc010kjb.1_Silent_p.A1282A|SYNE1_uc003qow.2_Silent_p.A594A|SYNE1_uc003qox.1_Silent_p.A815A	p.A1299A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4499	-		Ovarian(120;0.0955)	1299			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.3897G>A	CCDS5236.2																																																																																				PASS	0.567	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	91	12	91	---	---	---	---
TFB1M	51106	broad.mit.edu	37	6	155632376	155632376	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:155632376G>C	ENST00000367166.4	-	2	286	c.231C>G	c.(229-231)gaC>gaG	p.D77E	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.D77E(1)		lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GTTCAGCGACGTCGGCATTAA	0.433																																						uc003qqj.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(229-231)GAC>GAG		transcription factor B1, mitochondrial							124.0	114.0	117.0					6																	155632376		2203	4300	6503	SO:0001583	missense	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155632376G>C	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.231C>G	6.37:g.155632376G>C	ENSP00000356134:p.Asp77Glu					TFB1M_uc003qqk.2_Intron	p.D77E	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	2	295	-		Ovarian(120;0.196)	77					Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	c.231C>G	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	A	5.065	0.197656	0.09652	.	.	ENSG00000029639	ENST00000367166	T	0.29142	1.58	5.96	-10.4	0.00318	Ribosomal RNA adenine methylase transferase, conserved site (1);Ribosomal RNA adenine methylase transferase, N-terminal (1);	0.733086	0.13970	N	0.350221	T	0.03608	0.0103	N	0.05050	-0.12	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.29822	-0.9999	10	0.34782	T	0.22	-0.0916	13.9648	0.64202	0.3812:0.0:0.5215:0.0973	.	77	Q8WVM0	TFB1M_HUMAN	E	77	ENSP00000356134:D77E	ENSP00000356134:D77E	D	-	3	2	TFB1M	155674068	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-0.531000	0.06171	-2.635000	0.00432	-2.768000	0.00120	GAC		PASS	0.433	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			28	73	28	73	---	---	---	---
PDCD2	5134	broad.mit.edu	37	6	170892822	170892822	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr6:170892822T>G	ENST00000541970.1	-	2	375	c.297A>C	c.(295-297)caA>caC	p.Q99H	PDCD2_ENST00000453163.2_Missense_Mutation_p.Q99H|PDCD2_ENST00000443345.2_Missense_Mutation_p.Q66H|PDCD2_ENST00000537445.1_Missense_Mutation_p.Q66H|PDCD2_ENST00000542896.1_Missense_Mutation_p.Q99H|PDCD2_ENST00000392090.2_Missense_Mutation_p.Q66H	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	99					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.Q99H(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TCCTGGGTAGTTGATTCCTAA	0.368																																					Colon(60;1476 1726 39478)	uc003qxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)CAA>CAC		programmed cell death 2 isoform 1							36.0	39.0	38.0					6																	170892822		2203	4300	6503	SO:0001583	missense	5134				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:170892822T>G	AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"""Zinc fingers, MYND-type"""	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.297A>C	6.37:g.170892822T>G	ENSP00000439467:p.Gln99His					PDCD2_uc003qxv.2_Missense_Mutation_p.Q66H|PDCD2_uc003qxx.1_Missense_Mutation_p.Q99H|PDCD2_uc003qxy.2_Missense_Mutation_p.Q66H|PDCD2_uc003qxz.2_Missense_Mutation_p.Q99H|PDCD2_uc003qya.2_Missense_Mutation_p.Q66H|PDCD2_uc003qyb.1_Intron	p.Q99H	NM_002598	NP_002589	Q16342	PDCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)	2	376	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	99					E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Missense_Mutation	SNP	ENST00000541970.1	37	c.297A>C	CCDS5316.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.663569	0.67700	.	.	ENSG00000071994	ENST00000541970;ENST00000392090;ENST00000542896;ENST00000453163;ENST00000537445;ENST00000443345	.	.	.	4.63	1.89	0.25635	.	0.052304	0.85682	D	0.000000	T	0.72985	0.3529	M	0.89601	3.045	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.997;0.997;1.0;0.983;0.999	T	0.74760	-0.3556	8	.	.	.	-26.3706	8.7064	0.34356	0.0:0.744:0.0:0.256	.	66;99;66;99;99;66	F5GYS7;E9PCU7;Q58HM9;F5H4V9;Q16342;Q58HN0	.;.;.;.;PDCD2_HUMAN;.	H	99;66;99;99;66;66	.	.	Q	-	3	2	PDCD2	170734747	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	1.524000	0.35942	0.086000	0.17137	-0.137000	0.14449	CAA		PASS	0.368	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598		6	52	6	52	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4249744	4249744	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:4249744G>A	ENST00000404826.2	+	38	5628	c.5489G>A	c.(5488-5490)gGc>gAc	p.G1830D	SDK1_ENST00000389531.3_Missense_Mutation_p.G1810D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1830	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G1830D(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGGCCAACGGCATCCTGCAG	0.652																																						uc003smx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(5488-5490)GGC>GAC		sidekick 1 precursor							38.0	40.0	39.0					7																	4249744		2203	4298	6501	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4249744G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5489G>A	7.37:g.4249744G>A	ENSP00000385899:p.Gly1830Asp					SDK1_uc010kso.2_Missense_Mutation_p.G1086D|SDK1_uc003smy.2_Missense_Mutation_p.G317D	p.G1830D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	38	5628	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1830			Fibronectin type-III 12.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5489G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601593	0.66445	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.61040	0.14;0.14	5.11	5.11	0.69529	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.83760	0.5324	H	0.95224	3.64	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	0.89053	0.3457	10	0.87932	D	0	.	18.5523	0.91069	0.0:0.0:1.0:0.0	.	1810;317;1830	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	D	1830;78;1810	ENSP00000385899:G1830D;ENSP00000374182:G1810D	ENSP00000374182:G1810D	G	+	2	0	SDK1	4216270	1.000000	0.71417	0.641000	0.29422	0.744000	0.42396	9.369000	0.97156	2.388000	0.81334	0.655000	0.94253	GGC		PASS	0.652	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		8	94	8	94	---	---	---	---
DFNA5	1687	broad.mit.edu	37	7	24784198	24784198	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:24784198G>C	ENST00000342947.3	-	3	812	c.387C>G	c.(385-387)atC>atG	p.I129M	DFNA5_ENST00000409970.1_De_novo_Start_InFrame|DFNA5_ENST00000409775.3_Missense_Mutation_p.I129M|DFNA5_ENST00000545231.1_De_novo_Start_InFrame|DFNA5_ENST00000419307.1_De_novo_Start_InFrame	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	129					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)		p.I129M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CAGAGTCTCTGATGAGCTGCT	0.502																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)ATC>ATG		deafness, autosomal dominant 5 protein isoform							119.0	115.0	116.0					7																	24784198		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24784198G>C	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.387C>G	7.37:g.24784198G>C	ENSP00000339587:p.Ile129Met					DFNA5_uc003swz.2_Translation_Start_Site|DFNA5_uc003sxa.1_Missense_Mutation_p.I129M|DFNA5_uc010kut.1_Translation_Start_Site|DFNA5_uc003sxb.2_Missense_Mutation_p.I129M|DFNA5_uc003sxc.2_Missense_Mutation_p.I129M	p.I129M	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			3	475	-			129					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.387C>G	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	3.538	-0.094222	0.07053	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.22743	1.94;1.94	5.59	1.73	0.24493	.	0.432748	0.26662	N	0.023150	T	0.14787	0.0357	L	0.33753	1.03	0.80722	D	1	B;B	0.30068	0.267;0.267	B;B	0.33799	0.17;0.17	T	0.10314	-1.0635	10	0.30078	T	0.28	-8.2661	7.3776	0.26837	0.2154:0.3523:0.4323:0.0	.	129;129	A4FTY0;O60443	.;DFNA5_HUMAN	M	129	ENSP00000339587:I129M;ENSP00000386670:I129M	ENSP00000339587:I129M	I	-	3	3	DFNA5	24750723	0.997000	0.39634	0.109000	0.21407	0.196000	0.23810	0.569000	0.23638	0.043000	0.15746	0.650000	0.86243	ATC		PASS	0.502	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		9	154	9	154	---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32612988	32612988	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:32612988G>C	ENST00000318709.4	+	12	1749	c.1528G>C	c.(1528-1530)Gcg>Ccg	p.A510P	AVL9_ENST00000409301.1_Missense_Mutation_p.A510P|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	510					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.A510P(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGCCCAGTTTGCGGTCTACAT	0.507																																						uc003tcv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1528-1530)GCG>CCG		AVL9 homolog (S. cerevisiase)							115.0	97.0	103.0					7																	32612988		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32612988G>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1528G>C	7.37:g.32612988G>C	ENSP00000315568:p.Ala510Pro					AVL9_uc011kai.1_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.A351P	p.A510P	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			12	1674	+			510					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.1528G>C	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677180	0.68042	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000446718	T;T;T	0.45276	0.9;0.9;0.9	5.51	5.51	0.81932	.	0.293113	0.33959	N	0.004384	T	0.41880	0.1178	L	0.36672	1.1	0.80722	D	1	P;D	0.54397	0.744;0.966	B;P	0.49192	0.341;0.602	T	0.24977	-1.0145	10	0.49607	T	0.09	-24.5439	13.1635	0.59557	0.0827:0.0:0.9173:0.0	.	510;510	Q8NBF6-2;Q8NBF6	.;AVL9_HUMAN	P	510;510;510;441	ENSP00000315568:A510P;ENSP00000387011:A510P;ENSP00000395134:A441P	ENSP00000315568:A510P	A	+	1	0	AVL9	32579513	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.085000	0.50151	2.581000	0.87130	0.650000	0.86243	GCG		PASS	0.507	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		19	118	19	118	---	---	---	---
TBX20	57057	broad.mit.edu	37	7	35284591	35284591	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:35284591G>A	ENST00000408931.3	-	4	1150	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	208					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L208L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CATTGTTGGTGAGTTTCACCT	0.443																																						uc011kas.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(622-624)CTC>CTT		T-box transcription factor TBX20							218.0	168.0	185.0					7																	35284591		2203	4300	6503	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35284591G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.624C>T	7.37:g.35284591G>A							p.L208L	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			4	635	-			208			T-box.		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.624C>T	CCDS43568.1																																																																																				PASS	0.443	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		6	50	6	50	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48545964	48545964	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:48545964G>A	ENST00000435803.1	+	49	13348	c.13324G>A	c.(13324-13326)Gcc>Acc	p.A4442T	ABCA13_ENST00000544596.1_Missense_Mutation_p.A172T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4442					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A4442T(1)|p.A4387T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATATGGAGGGGCCTTGCTGAA	0.468																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(13324-13326)GCC>ACC		ATP binding cassette, sub-family A (ABC1),							122.0	127.0	126.0					7																	48545964		2104	4224	6328	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48545964G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13324G>A	7.37:g.48545964G>A	ENSP00000411096:p.Ala4442Thr					ABCA13_uc010kys.1_Missense_Mutation_p.A1517T|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.A172T	p.A4442T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			49	13349	+			4442					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13324G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	7.435	0.639421	0.14386	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.86030	-2.06;-2.06;-2.06	5.04	1.71	0.24356	.	0.358793	0.20161	N	0.097957	T	0.71837	0.3387	N	0.20807	0.61	0.31614	N	0.651114	B;B;P	0.48089	0.013;0.11;0.905	B;B;B	0.43331	0.02;0.028;0.416	T	0.71290	-0.4637	10	0.42905	T	0.14	.	4.5837	0.12271	0.2374:0.0:0.5875:0.1751	.	172;2144;4442	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	T	4442;215;172	ENSP00000411096:A4442T;ENSP00000391042:A215T;ENSP00000442634:A172T	ENSP00000391042:A215T	A	+	1	0	ABCA13	48516510	0.142000	0.22610	0.864000	0.33941	0.501000	0.33797	2.233000	0.43027	0.499000	0.27970	0.467000	0.42956	GCC		PASS	0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		42	69	42	69	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66548450	66548450	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:66548450G>A	ENST00000359626.5	+	11	1472	c.1308G>A	c.(1306-1308)cgG>cgA	p.R436R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	436					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.R436R(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGAGTGGCGGTGGAAGATGG	0.438																																						uc003tvn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1306-1308)CGG>CGA		radical S-adenosyl methionine and flavodoxin							97.0	94.0	95.0					7																	66548450		2203	4300	6503	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66548450G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1308G>A	7.37:g.66548450G>A						TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Silent_p.R50R	p.R436R	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			11	1457	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	436					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.1308G>A	CCDS5538.1																																																																																				PASS	0.438	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		21	102	21	102	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86479854	86479854	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:86479854T>G	ENST00000361669.2	+	5	3659	c.2560T>G	c.(2560-2562)Tct>Gct	p.S854A	GRM3_ENST00000536043.1_Missense_Mutation_p.S726A|GRM3_ENST00000546348.1_Missense_Mutation_p.S446A|GRM3_ENST00000394720.2_Missense_Mutation_p.L496R|GRM3_ENST00000439827.1_Missense_Mutation_p.L498R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	854					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.S854A(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACCACATACTCTCAGTGTAA	0.478																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2560-2562)TCT>GCT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						152.0	125.0	134.0					7																	86479854		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86479854T>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2560T>G	7.37:g.86479854T>G	ENSP00000355316:p.Ser854Ala					GRM3_uc010lef.2_Missense_Mutation_p.L496R|GRM3_uc010leg.2_Missense_Mutation_p.S726A|GRM3_uc010leh.2_Missense_Mutation_p.S446A	p.S854A	NM_000840	NP_000831	Q14832	GRM3_HUMAN			5	3659	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		854			Cytoplasmic (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2560T>G	CCDS5600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.62|15.62	2.887020|2.887020	0.52014|0.52014	.|.	.|.	ENSG00000198822|ENSG00000198822	ENST00000439827;ENST00000394720|ENST00000361669;ENST00000546348;ENST00000536043	D;D|D;D;D	0.88975|0.88354	-2.45;-2.45|-2.37;-2.29;-2.14	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.049936	.|0.85682	.|D	.|0.000000	D|D	0.83562|0.83562	0.5281|0.5281	L|L	0.29908|0.29908	0.895|0.895	0.41917|0.41917	D|D	0.990491|0.990491	B|B;B;B	0.28880|0.10296	0.226|0.001;0.003;0.002	B|B;B;B	0.40477|0.13407	0.33|0.005;0.009;0.002	T|T	0.78600|0.78600	-0.2141|-0.2141	9|10	0.87932|0.33940	D|T	0|0.23	.|.	15.5682|15.5682	0.76309|0.76309	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	498|446;726;854	G5E9K2|B7Z204;F5GYZ2;Q14832	.|.;.;GRM3_HUMAN	R|A	498;496|854;446;726	ENSP00000398767:L498R;ENSP00000378209:L496R|ENSP00000355316:S854A;ENSP00000444064:S446A;ENSP00000441407:S726A	ENSP00000378209:L496R|ENSP00000355316:S854A	L|S	+|+	2|1	0|0	GRM3|GRM3	86317790|86317790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.832000|7.832000	0.86757|0.86757	2.265000|2.265000	0.75225|0.75225	0.533000|0.533000	0.62120|0.62120	CTC|TCT		PASS	0.478	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			17	110	17	110	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104752933	104752933	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:104752933C>T	ENST00000311117.3	+	27	5275	c.4730C>T	c.(4729-4731)tCt>tTt	p.S1577F	KMT2E_ENST00000257745.4_Missense_Mutation_p.S1577F|KMT2E_ENST00000334877.4_Missense_Mutation_p.S1535F|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1577	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S1577F(1)									GGTAGTCTTTCTCAACAAACT	0.478																																						uc003vcm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4729-4731)TCT>TTT		myeloid/lymphoid or mixed-lineage leukemia 5							123.0	124.0	124.0					7																	104752933		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104752933C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4730C>T	7.37:g.104752933C>T	ENSP00000312379:p.Ser1577Phe					MLL5_uc010ljc.2_Missense_Mutation_p.S1577F|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.S311F	p.S1577F	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	5264	+			1577			Pro-rich.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4730C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	7.648	0.682345	0.14907	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.92545	-3.06;-2.8;-3.06	3.34	3.34	0.38264	.	0.173943	0.27535	N	0.018927	D	0.89238	0.6658	N	0.14661	0.345	0.80722	D	1	D;B	0.58620	0.983;0.38	P;B	0.53649	0.731;0.135	D	0.90929	0.4789	10	0.62326	D	0.03	.	15.0453	0.71822	0.0:1.0:0.0:0.0	.	1497;1577	F8W6H1;Q8IZD2	.;MLL5_HUMAN	F	1577;1535;1497;1577	ENSP00000312379:S1577F;ENSP00000335599:S1535F;ENSP00000257745:S1577F	ENSP00000257745:S1577F	S	+	2	0	MLL5	104540169	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.672000	0.68102	1.578000	0.49821	0.305000	0.20034	TCT		PASS	0.478	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			15	98	15	98	---	---	---	---
MKLN1	4289	broad.mit.edu	37	7	131128447	131128447	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:131128447A>T	ENST00000352689.6	+	11	1421	c.1381A>T	c.(1381-1383)Atg>Ttg	p.M461L	MKLN1_ENST00000421797.2_Missense_Mutation_p.M369L	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	461					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.M461L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AGGACACTGCATGTTATTCCA	0.398																																						uc011kpm.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1381-1383)ATG>TTG		muskelin 1, intracellular mediator containing							100.0	90.0	93.0					7																	131128447		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131128447A>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1381A>T	7.37:g.131128447A>T	ENSP00000323527:p.Met461Leu					MKLN1_uc011kpl.1_Missense_Mutation_p.M438L|MKLN1_uc010lmh.2_Missense_Mutation_p.M461L|MKLN1_uc003vqs.2_Missense_Mutation_p.M254L	p.M461L	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN			11	1445	+	Melanoma(18;0.162)		461					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.1381A>T	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	A	33	5.262001	0.95368	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	T;T	0.61274	0.12;0.12	5.86	5.86	0.93980	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	M	0.72118	2.19	0.80722	D	1	P;D;D	0.55800	0.891;0.973;0.973	P;P;P	0.59948	0.669;0.844;0.866	T	0.75505	-0.3294	10	0.66056	D	0.02	-13.207	15.4338	0.75125	1.0:0.0:0.0:0.0	.	461;438;369	Q9UL63;B4DG30;C9J7E8	MKLN1_HUMAN;.;.	L	369;461	ENSP00000398094:M369L;ENSP00000323527:M461L	ENSP00000323527:M461L	M	+	1	0	MKLN1	130778987	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.326000	0.96389	2.241000	0.73720	0.482000	0.46254	ATG		PASS	0.398	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		20	62	20	62	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135258457	135258457	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:135258457C>A	ENST00000285968.6	+	3	253	c.227C>A	c.(226-228)gCc>gAc	p.A76D	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	76					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 transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.A76D(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGGGAGTCGCCATTCAGGGT	0.403																																						uc003vsw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(226-228)GCC>GAC		nucleoporin 205kDa							106.0	98.0	101.0					7																	135258457		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135258457C>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.227C>A	7.37:g.135258457C>A	ENSP00000285968:p.Ala76Asp					NUP205_uc011kqa.1_RNA	p.A76D	NM_015135	NP_055950	Q92621	NU205_HUMAN			3	258	+			76					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.227C>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884552	0.51908	.	.	ENSG00000155561	ENST00000285968	T	0.31769	1.48	5.1	5.1	0.69264	.	0.098068	0.64402	D	0.000001	T	0.29945	0.0749	L	0.44542	1.39	0.80722	D	1	P	0.43938	0.822	B	0.42163	0.378	T	0.03739	-1.1008	10	0.13108	T	0.6	-11.4388	18.4985	0.90874	0.0:1.0:0.0:0.0	.	76	Q92621	NU205_HUMAN	D	76	ENSP00000285968:A76D	ENSP00000285968:A76D	A	+	2	0	NUP205	134908997	1.000000	0.71417	0.919000	0.36401	0.974000	0.67602	7.590000	0.82653	2.373000	0.80994	0.484000	0.47621	GCC		PASS	0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			3	49	3	49	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143028687	143028687	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:143028687C>A	ENST00000343257.2	+	10	1195	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	370					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.R370S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTATCTGCATCGCCAAGTCAT	0.478																																						uc003wcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1108-1110)CGC>AGC		chloride channel 1, skeletal muscle							135.0	120.0	125.0					7																	143028687		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143028687C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1108C>A	7.37:g.143028687C>A	ENSP00000339867:p.Arg370Ser					CLCN1_uc011ktc.1_Missense_Mutation_p.R32S	p.R370S	NM_000083	NP_000074	P35523	CLCN1_HUMAN			10	1195	+	Melanoma(164;0.205)		370			Helical; (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1108C>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426567	0.83667	.	.	ENSG00000188037	ENST00000343257	D	0.92911	-3.13	5.12	5.12	0.69794	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	M	0.76328	2.33	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96223	0.9162	10	0.66056	D	0.02	.	18.5517	0.91068	0.0:1.0:0.0:0.0	.	370	P35523	CLCN1_HUMAN	S	370	ENSP00000339867:R370S	ENSP00000339867:R370S	R	+	1	0	CLCN1	142738809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	2.398000	0.81561	0.637000	0.83480	CGC		PASS	0.478	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		4	79	4	79	---	---	---	---
VIPR2	7434	broad.mit.edu	37	7	158835748	158835748	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr7:158835748C>A	ENST00000262178.2	-	6	760	c.575G>T	c.(574-576)tGc>tTc	p.C192F	VIPR2_ENST00000402066.1_Missense_Mutation_p.C333F|VIPR2_ENST00000377633.3_Missense_Mutation_p.C176F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	192					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.C192F(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTGGTCAGGGCAGTGCAACGT	0.552																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)	2						c.(574-576)TGC>TTC		vasoactive intestinal peptide receptor 2							139.0	105.0	117.0					7																	158835748		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158835748C>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.575G>T	7.37:g.158835748C>A	ENSP00000262178:p.Cys192Phe					VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	p.C192F	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	6	761	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	192			Extracellular (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.575G>T	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965200	0.53507	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.45276	0.9;0.9;0.9	5.1	5.1	0.69264	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000024	T	0.68375	0.2994	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72323	-0.4328	9	.	.	.	.	16.3544	0.83230	0.0:1.0:0.0:0.0	.	192	P41587	VIPR2_HUMAN	F	192;176;333	ENSP00000262178:C192F;ENSP00000366860:C176F;ENSP00000384497:C333F	.	C	-	2	0	VIPR2	158528509	1.000000	0.71417	0.967000	0.41034	0.023000	0.10783	4.472000	0.60189	2.528000	0.85240	0.655000	0.94253	TGC		PASS	0.552	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		6	29	6	29	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20007193	20007193	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr8:20007193C>T	ENST00000276373.5	-	12	1406	c.1140G>A	c.(1138-1140)ttG>ttA	p.L380L	SLC18A1_ENST00000437980.1_Silent_p.L380L|SLC18A1_ENST00000519026.1_Silent_p.L348L|SLC18A1_ENST00000381608.4_Silent_p.L380L|SLC18A1_ENST00000265808.7_Silent_p.L348L|SLC18A1_ENST00000440926.1_Silent_p.L380L	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	380					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.L380L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TTACACAGAGCAAGCTGGTAC	0.532																																						uc011kyq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1138-1140)TTG>TTA		solute carrier family 18 (vesicular monoamine),							72.0	72.0	72.0					8																	20007193		2203	4300	6503	SO:0001819	synonymous_variant	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20007193C>T		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1140G>A	8.37:g.20007193C>T						SLC18A1_uc003wzl.2_Silent_p.L167L|SLC18A1_uc003wzm.2_Silent_p.L380L|SLC18A1_uc011kyr.1_Silent_p.L380L|SLC18A1_uc003wzn.2_Silent_p.L348L|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Silent_p.L348L	p.L380L	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	13	1611	-			380			Helical; (Potential).		E9PDJ5|Q9BRE4	Silent	SNP	ENST00000276373.5	37	c.1140G>A	CCDS6013.1																																																																																				PASS	0.532	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			6	33	6	33	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37728907	37728907	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr8:37728907C>G	ENST00000330843.4	-	4	3425	c.3413G>C	c.(3412-3414)aGa>aCa	p.R1138T	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1138					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.R1138T(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ATTTTCAACTCTACCAGCGGA	0.552											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xkm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3412-3414)AGA>ACA		RAB11 family interacting protein 1 isoform 3							102.0	111.0	108.0					8																	37728907		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728907C>G	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3413G>C	8.37:g.37728907C>G	ENSP00000331342:p.Arg1138Thr		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.R467T|RAB11FIP1_uc003xko.1_Missense_Mutation_p.R467T|RAB11FIP1_uc003xkp.1_Intron	p.R1138T	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3457	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1138					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3413G>C	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188010	0.38609	.	.	ENSG00000156675	ENST00000330843	T	0.39592	1.07	5.29	1.71	0.24356	.	0.325805	0.26187	N	0.025826	T	0.27169	0.0666	L	0.44542	1.39	0.80722	D	1	P;B	0.47302	0.893;0.255	B;B	0.36922	0.236;0.071	T	0.04737	-1.0930	10	0.21540	T	0.41	-9.4418	8.2495	0.31708	0.0:0.2317:0.0:0.7683	.	467;1138	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	T	1138	ENSP00000331342:R1138T	ENSP00000331342:R1138T	R	-	2	0	RAB11FIP1	37848065	1.000000	0.71417	0.019000	0.16419	0.798000	0.45092	1.555000	0.36277	0.058000	0.16222	-0.378000	0.06908	AGA		PASS	0.552	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		28	188	28	188	---	---	---	---
ZMAT4	79698	broad.mit.edu	37	8	40554884	40554884	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr8:40554884A>T	ENST00000297737.6	-	4	375	c.229T>A	c.(229-231)Tgc>Agc	p.C77S	ZMAT4_ENST00000315769.7_Missense_Mutation_p.C77S	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	77						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C77S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CAGAGTGTGCAGCACTTGTTC	0.478																																						uc003xnr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(229-231)TGC>AGC		zinc finger, matrin type 4 isoform a							120.0	104.0	109.0					8																	40554884		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40554884A>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.229T>A	8.37:g.40554884A>T	ENSP00000297737:p.Cys77Ser					ZMAT4_uc003xns.2_Missense_Mutation_p.C77S	p.C77S	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		4	375	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	77			Matrin-type 2.		Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.229T>A	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	A	33	5.217433	0.95104	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	D;D;D	0.98947	-5.26;-5.26;-5.26	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.82132	2.575	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99751	1.1018	10	0.66056	D	0.02	-20.9966	16.0034	0.80327	1.0:0.0:0.0:0.0	.	77;77	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	S	77	ENSP00000319785:C77S;ENSP00000297737:C77S;ENSP00000428423:C77S	ENSP00000297737:C77S	C	-	1	0	ZMAT4	40674041	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.715000	0.91416	2.371000	0.80710	0.533000	0.62120	TGC		PASS	0.478	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		13	93	13	93	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321164	52321164	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr8:52321164G>A	ENST00000356297.4	-	17	3120	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A1007V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1007					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A1007V(1)|p.A206V(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGCAGCTCCGCGCCCACGAT	0.622																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3019-3021)GCG>GTG		peroxidasin homolog-like precursor							26.0	31.0	29.0					8																	52321164		2105	4236	6341	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321164G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3020C>T	8.37:g.52321164G>A	ENSP00000348645:p.Ala1007Val					PXDNL_uc003xqt.3_RNA	p.A1007V	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3121	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1007					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3020C>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.26|13.26	2.184334|2.184334	0.38609|0.38609	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.75938|.	-0.98;-0.98|.	3.8|3.8	2.91|2.91	0.33838|0.33838	.|.	0.248736|.	0.27976|.	N|.	0.017085|.	D|D	0.87712|0.87712	0.6246|0.6246	H|H	0.99312|0.99312	4.51|4.51	0.37692|0.37692	D|D	0.923898|0.923898	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89186|0.89186	0.3547|0.3547	10|5	0.87932|.	D|.	0|.	.|.	9.0444|9.0444	0.36338|0.36338	0.1142:0.0:0.8858:0.0|0.1142:0.0:0.8858:0.0	.|.	1007|.	A1KZ92|.	PXDNL_HUMAN|.	V|W	1007|126	ENSP00000348645:A1007V;ENSP00000444865:A1007V|.	ENSP00000348645:A1007V|.	A|R	-|-	2|1	0|2	PXDNL|PXDNL	52483717|52483717	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	5.547000|5.547000	0.67249|0.67249	0.579000|0.579000	0.29504|0.29504	-0.140000|-0.140000	0.14226|0.14226	GCG|CGG		PASS	0.622	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	17	6	17	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105456559	105456559	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr8:105456559G>C	ENST00000351513.2	-	4	842	c.710C>G	c.(709-711)gCc>gGc	p.A237G		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	237					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.A237G(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACAGCGCTGGCTATGGTGAT	0.547																																						uc003yly.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(709-711)GCC>GGC		dihydropyrimidinase							106.0	90.0	95.0					8																	105456559		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456559G>C	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.710C>G	8.37:g.105456559G>C	ENSP00000276651:p.Ala237Gly						p.A237G	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	839	-			237						Missense_Mutation	SNP	ENST00000351513.2	37	c.710C>G	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099177	0.94197	.	.	ENSG00000147647	ENST00000351513	D	0.92048	-2.96	5.89	5.89	0.94794	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.96241	0.8774	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.95825	0.8853	10	0.62326	D	0.03	-29.1391	20.2576	0.98430	0.0:0.0:1.0:0.0	.	237	Q14117	DPYS_HUMAN	G	237	ENSP00000276651:A237G	ENSP00000276651:A237G	A	-	2	0	DPYS	105525735	1.000000	0.71417	0.655000	0.29622	0.811000	0.45836	9.281000	0.95811	2.783000	0.95769	0.655000	0.94253	GCC		PASS	0.547	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		22	52	22	52	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113564842	113564842	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr8:113564842C>T	ENST00000297405.5	-	26	4586	c.4342G>A	c.(4342-4344)Gat>Aat	p.D1448N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1408N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1344N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1448N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1448	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1408N(1)|p.D1448Y(1)|p.D1448N(1)|p.D1408Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCCAGGATCTACCTCAATC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			4	Substitution - Missense(4)		lung(2)|kidney(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4342-4344)GAT>AAT		CUB and Sushi multiple domains 3 isoform 1							75.0	71.0	72.0					8																	113564842		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113564842C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4342G>A	8.37:g.113564842C>T	ENSP00000297405:p.Asp1448Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D720N|CSMD3_uc003ynt.2_Missense_Mutation_p.D1408N|CSMD3_uc011lhx.1_Missense_Mutation_p.D1344N	p.D1448N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			26	4501	-			1448			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4342G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843162	0.51057	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	4.74	4.74	0.60224	CUB (5);	0.226336	0.35970	N	0.002873	T	0.48295	0.1492	L	0.31207	0.915	0.37736	D	0.925432	B;B;B	0.28082	0.016;0.02;0.2	B;B;B	0.29176	0.017;0.029;0.099	T	0.48811	-0.9002	10	0.29301	T	0.29	.	18.2856	0.90113	0.0:1.0:0.0:0.0	.	1344;1448;1408	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1408;1448;788;1344;1448	ENSP00000345799:D1408N;ENSP00000297405:D1448N;ENSP00000341558:D788N;ENSP00000412263:D1344N;ENSP00000343124:D1448N	ENSP00000297405:D1448N	D	-	1	0	CSMD3	113634018	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.785000	0.62418	2.617000	0.88574	0.655000	0.94253	GAT		PASS	0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	59	10	59	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121256238	121256238	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr8:121256238G>A	ENST00000297848.3	+	20	2740	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R	COL14A1_ENST00000247781.3_Missense_Mutation_p.G729R|COL14A1_ENST00000309791.4_Missense_Mutation_p.G824R|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.G824R(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCCGCTCCTGGAAAAACCTG	0.468																																						uc003yox.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2470-2472)GGA>AGA		collagen, type XIV, alpha 1 precursor							100.0	105.0	103.0					8																	121256238		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121256238G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2470G>A	8.37:g.121256238G>A	ENSP00000297848:p.Gly824Arg					COL14A1_uc003yoy.2_Missense_Mutation_p.G502R	p.G824R	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		20	2735	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		824			Fibronectin type-III 6.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2470G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931607	0.92389	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.79	5.79	0.91817	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.110825	0.64402	D	0.000010	T	0.71333	0.3327	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.973;0.999	T	0.66658	-0.5868	10	0.26408	T	0.33	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	824;824	Q05707-2;Q05707	.;COEA1_HUMAN	R	824;824;729;637	ENSP00000311809:G824R;ENSP00000297848:G824R;ENSP00000247781:G729R;ENSP00000409461:G637R	ENSP00000247781:G729R	G	+	1	0	COL14A1	121325419	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.501000	0.90501	2.733000	0.93635	0.655000	0.94253	GGA		PASS	0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		22	159	22	159	---	---	---	---
MFSD3	113655	broad.mit.edu	37	8	145738752	145738752	+	IGR	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr8:145738752G>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.T771M|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AAAGGCCACCGTGGCCACCAC	0.697																																						uc003zdj.2										N|F|S						osteosarcoma|skin basal and sqamous cell			0				breast(2)|lung(1)|skin(1)	4						c.(2311-2313)ACG>ATG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							15.0	20.0	18.0					8																	145738752		2081	4204	6285	SO:0001628	intergenic_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145738752G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738752G>A							p.T771M	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		15	2344	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		771			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000301327.4	37	c.2312C>T	CCDS6431.1																																																																																				PASS	0.697	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		3	40	3	40	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6015178	6015178	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr9:6015178G>C	ENST00000259569.5	-	1	440	c.430C>G	c.(430-432)Ctt>Gtt	p.L144V	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	144					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L144V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GAATCAATAAGAAACTTCAGA	0.438																																						uc003zjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(430-432)CTT>GTT		RAN binding protein 6							50.0	52.0	51.0					9																	6015178		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015178G>C	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.430C>G	9.37:g.6015178G>C	ENSP00000259569:p.Leu144Val					RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	p.L144V	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	441	-		Acute lymphoblastic leukemia(23;0.158)	144					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.430C>G	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734075	0.48939	.	.	ENSG00000137040	ENST00000259569	T	0.75477	-0.94	4.51	3.61	0.41365	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	M	0.76838	2.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.70016	0.967	T	0.82594	-0.0380	10	0.46703	T	0.11	-8.0242	8.7265	0.34471	0.0862:0.1532:0.7606:0.0	.	144	O60518	RNBP6_HUMAN	V	144	ENSP00000259569:L144V	ENSP00000259569:L144V	L	-	1	0	RANBP6	6005178	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.670000	0.68088	1.503000	0.48686	0.561000	0.74099	CTT		PASS	0.438	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		8	53	8	53	---	---	---	---
NFIB	4781	broad.mit.edu	37	9	14307521	14307521	+	Splice_Site	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr9:14307521T>C	ENST00000380959.3	-	2	504		c.e2-2		NFIB_ENST00000397575.3_Splice_Site|NFIB_ENST00000397581.2_Splice_Site|NFIB_ENST00000380921.3_Splice_Site|NFIB_ENST00000397579.2_Splice_Site|NFIB_ENST00000380934.4_Splice_Site|NFIB_ENST00000380953.1_Splice_Site	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.?(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AAATTCATCCTGTGGAAGACA	0.408			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		2	Unknown(2)		lung(2)		0						c.e2-1		nuclear factor I/B							43.0	43.0	43.0					9																	14307521		2203	4300	6503	SO:0001630	splice_region_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307521T>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.31-2A>G	9.37:g.14307521T>C						NFIB_uc003zlf.2_Splice_Site_p.D11_splice|NFIB_uc011lmo.1_Splice_Site_p.D11_splice	p.D11_splice	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	466	-								G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Splice_Site	SNP	ENST00000380959.3	37	c.31_splice	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205263	0.39003	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9708	0.80019	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFIB	14297521	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	8.040000	0.89188	2.167000	0.68274	0.528000	0.53228	.		PASS	0.408	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	Intron	16	41	16	41	---	---	---	---
HAUS6	54801	broad.mit.edu	37	9	19063106	19063106	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr9:19063106G>C	ENST00000380502.3	-	14	1996	c.1529C>G	c.(1528-1530)tCa>tGa	p.S510*	HAUS6_ENST00000380496.1_Nonsense_Mutation_p.S374*|SCARNA8_ENST00000515924.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	510					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.S510*(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAACATCTGATAATGGAGA	0.363																																						uc003znk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1528-1530)TCA>TGA		HAUS augmin-like complex, subunit 6							108.0	99.0	102.0					9																	19063106		2203	4298	6501	SO:0001587	stop_gained	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19063106G>C	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1529C>G	9.37:g.19063106G>C	ENSP00000369871:p.Ser510*					HAUS6_uc011lmz.1_Nonsense_Mutation_p.S230*|HAUS6_uc003znl.1_Nonsense_Mutation_p.S374*|HAUS6_uc003znm.1_Nonsense_Mutation_p.S265*	p.S510*	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			14	1782	-			510					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Nonsense_Mutation	SNP	ENST00000380502.3	37	c.1529C>G	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521000	0.44866	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	.	.	.	5.69	3.62	0.41486	.	1.184190	0.05858	N	0.622443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-0.6459	7.8998	0.29727	0.2404:0.0:0.7596:0.0	.	.	.	.	X	510;374;26	.	ENSP00000369865:S374X	S	-	2	0	HAUS6	19053106	0.000000	0.05858	0.008000	0.14137	0.217000	0.24651	0.168000	0.16622	1.403000	0.46800	0.563000	0.77884	TCA		PASS	0.363	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		10	98	10	98	---	---	---	---
SLC24A2	25769	broad.mit.edu	37	9	19786143	19786143	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr9:19786143T>C	ENST00000341998.2	-	1	783	c.722A>G	c.(721-723)gAt>gGt	p.D241G	SLC24A2_ENST00000286344.3_Missense_Mutation_p.D241G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	241					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.D241G(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAAAGACACATCTCGAAAGAG	0.388																																						uc003zoa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(721-723)GAT>GGT		solute carrier family 24							97.0	91.0	93.0					9																	19786143		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786143T>C	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.722A>G	9.37:g.19786143T>C	ENSP00000344801:p.Asp241Gly					SLC24A2_uc003zob.1_Missense_Mutation_p.D241G	p.D241G	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	784	-			241			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.722A>G	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053481	0.75960	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.64803	-0.12;-0.12	5.91	5.91	0.95273	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.88727	0.6515	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93601	0.6930	9	.	.	.	.	16.3378	0.83071	0.0:0.0:0.0:1.0	.	241;241	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	G	241	ENSP00000344801:D241G;ENSP00000286344:D241G	.	D	-	2	0	SLC24A2	19776143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.255000	0.74692	0.533000	0.62120	GAT		PASS	0.388	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		26	47	26	47	---	---	---	---
PRSS3	5646	broad.mit.edu	37	9	33796728	33796728	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr9:33796728C>G	ENST00000361005.5	+	2	299	c.299C>G	c.(298-300)tCt>tGt	p.S100C	PRSS3_ENST00000429677.3_Missense_Mutation_p.S36C|PRSS3_ENST00000342836.4_Missense_Mutation_p.S57C|PRSS3_ENST00000379405.3_Missense_Mutation_p.S43C|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	100	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S100C(1)|p.S43C(1)		large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCCCTGAATTCTGGCTCCCAC	0.547																																						uc003ztj.3																			2	Substitution - Missense(2)		lung(2)		0						c.(298-300)TCT>TGT		mesotrypsin isoform 1 preproprotein							140.0	144.0	143.0					9																	33796728		2203	4300	6503	SO:0001583	missense	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33796728C>G		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.299C>G	9.37:g.33796728C>G	ENSP00000354280:p.Ser100Cys					uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.S57C|PRSS3_uc003ztl.3_Missense_Mutation_p.S43C	p.S100C	NM_007343	NP_031369	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		2	299	+			100			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	c.299C>G	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	7.962	0.747225	0.15710	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.93811	-2.46;-2.46;-3.29;-2.46;-3.29	3.21	-1.61	0.08399	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.800432	0.12035	N	0.505579	D	0.94208	0.8141	M	0.79926	2.475	0.09310	N	1	P;D;D	0.63046	0.675;0.985;0.992	B;P;P	0.57911	0.439;0.829;0.656	D	0.86680	0.1916	10	0.72032	D	0.01	.	4.837	0.13469	0.0:0.4312:0.3473:0.2214	.	43;100;57	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	C	100;55;57;36;43	ENSP00000354280:S100C;ENSP00000401249:S55C;ENSP00000340889:S57C;ENSP00000401828:S36C;ENSP00000368715:S43C	ENSP00000340889:S57C	S	+	2	0	PRSS3	33786728	0.000000	0.05858	0.002000	0.10522	0.069000	0.16628	0.200000	0.17257	0.032000	0.15435	0.306000	0.20318	TCT		PASS	0.547	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		8	307	8	307	---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35710635	35710635	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr9:35710635C>T	ENST00000314888.9	-	33	4602	c.4249G>A	c.(4249-4251)Gga>Aga	p.G1417R	TLN1_ENST00000540444.1_Missense_Mutation_p.G1417R|TLN1_ENST00000464379.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1417	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.G1417R(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCAGGTTTCCGTTCTTGGCA	0.547																																						uc003zxt.2																			1	Substitution - Missense(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(4249-4251)GGA>AGA		talin 1							75.0	69.0	71.0					9																	35710635		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35710635C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4249G>A	9.37:g.35710635C>T	ENSP00000316029:p.Gly1417Arg						p.G1417R	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		33	4603	-	all_epithelial(49;0.167)		1417			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4249G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844043	0.51164	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.30981	1.51;1.51	5.97	4.98	0.66077	.	0.211703	0.47093	D	0.000259	T	0.18718	0.0449	L	0.47716	1.5	0.41158	D	0.986073	P	0.40681	0.727	B	0.24701	0.055	T	0.02713	-1.1120	10	0.31617	T	0.26	-12.8728	7.2522	0.26156	0.0:0.8166:0.0:0.1834	.	1417	Q9Y490	TLN1_HUMAN	R	1417	ENSP00000316029:G1417R;ENSP00000442981:G1417R	ENSP00000316029:G1417R	G	-	1	0	TLN1	35700635	0.992000	0.36948	0.973000	0.42090	0.682000	0.39822	2.331000	0.43894	2.837000	0.97791	0.655000	0.94253	GGA		PASS	0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		10	61	10	61	---	---	---	---
MAMDC4	158056	broad.mit.edu	37	9	139751491	139751491	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr9:139751491T>A	ENST00000317446.2	+	16	2020	c.1970T>A	c.(1969-1971)aTt>aAt	p.I657N	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.I736N	NM_206920.2	NP_996803.2			MAM domain containing 4									p.I657N(1)|p.I736N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGGCCCCAGATTGGTGAGTGG	0.662																																						uc004cjs.2																			2	Substitution - Missense(2)		lung(2)	breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(1969-1971)ATT>AAT		apical early endosomal glycoprotein precursor							32.0	35.0	34.0					9																	139751491		2199	4299	6498	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139751491T>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1970T>A	9.37:g.139751491T>A	ENSP00000319388:p.Ile657Asn					MAMDC4_uc011mej.1_Translation_Start_Site	p.I657N	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	16	2020	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	736			MAM 4.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317446.2	37	c.1970T>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.78|14.78	2.636195|2.636195	0.47049|0.47049	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02197	.|4.4;4.4	5.02|5.02	3.88|3.88	0.44766|0.44766	.|.	.|0.000000	.|0.56097	.|D	.|0.000032	T|T	0.14874|0.14874	0.0359|0.0359	M|M	0.93594|0.93594	3.435|3.435	0.29672|0.29672	N|N	0.84241|0.84241	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.08186|0.08186	-1.0734|-1.0734	5|10	.|0.56958	.|D	.|0.05	-10.7753|-10.7753	7.319|7.319	0.26517|0.26517	0.0:0.1757:0.0:0.8243|0.0:0.1757:0.0:0.8243	.|.	.|657	.|Q6UXC1-2	.|.	E|N	721|657;736	.|ENSP00000319388:I657N;ENSP00000411339:I736N	.|ENSP00000319388:I657N	D|I	+|+	3|2	2|0	MAMDC4|MAMDC4	138871312|138871312	0.319000|0.319000	0.24607|0.24607	0.869000|0.869000	0.34112|0.34112	0.290000|0.290000	0.27261|0.27261	0.460000|0.460000	0.21924|0.21924	0.743000|0.743000	0.32719|0.32719	0.459000|0.459000	0.35465|0.35465	GAT|ATT		PASS	0.662	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		5	35	5	35	---	---	---	---
FAM166A	401565	broad.mit.edu	37	9	140139670	140139670	+	Splice_Site	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr9:140139670G>C	ENST00000344774.4	-	4	577	c.523C>G	c.(523-525)Ctg>Gtg	p.L175V	FAM166A_ENST00000388932.2_Splice_Site_p.L175V	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	175						nucleus (GO:0005634)		p.L175V(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CAGTGGTACAGCTGGAGCGGG	0.692																																						uc004cmi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(523-525)CTG>GTG		hypothetical protein LOC401565							31.0	34.0	33.0					9																	140139670		2203	4292	6495	SO:0001630	splice_region_variant	401565							g.chr9:140139670G>C	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.523-1C>G	9.37:g.140139670G>C							p.L175V	NM_001001710	NP_001001710	Q6J272	F166A_HUMAN			4	578	-			175					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.523C>G	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579787	0.28180	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	4.7	4.7	0.59300	.	1.323470	0.05098	N	0.486573	T	0.51635	0.1686	L	0.50919	1.6	0.33186	D	0.550266	D	0.56968	0.978	P	0.50754	0.649	T	0.44817	-0.9303	9	0.05833	T	0.94	-2.1863	12.9934	0.58634	0.0:0.0:1.0:0.0	.	175	Q6J272	F166A_HUMAN	V	175;175;202	.	ENSP00000344729:L175V	L	-	1	2	FAM166A	139259491	0.960000	0.32886	1.000000	0.80357	0.444000	0.32077	1.791000	0.38744	2.431000	0.82371	0.561000	0.74099	CTG		PASS	0.692	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710	Missense_Mutation	10	55	10	55	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	909706	909706	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr10:909706G>C	ENST00000316157.3	-	4	447	c.407C>G	c.(406-408)tCt>tGt	p.S136C		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	136					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.S136C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTCAGGCAGAGAGTCATATTC	0.468																																						uc001ifs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(406-408)TCT>TGT		La ribonucleoprotein domain family, member 4B							99.0	100.0	100.0					10																	909706		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:909706G>C	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.407C>G	10.37:g.909706G>C	ENSP00000326128:p.Ser136Cys						p.S136C	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			4	448	-			136					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.407C>G	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419460	0.42918	.	.	ENSG00000107929	ENST00000316157	T	0.33865	1.39	5.3	5.3	0.74995	.	0.402420	0.30159	N	0.010269	T	0.28067	0.0692	N	0.08118	0	0.49687	D	0.999818	P	0.49635	0.926	P	0.45913	0.497	T	0.14448	-1.0472	10	0.40728	T	0.16	-16.3002	18.9524	0.92645	0.0:0.0:1.0:0.0	.	136	Q92615	LAR4B_HUMAN	C	136	ENSP00000326128:S136C	ENSP00000326128:S136C	S	-	2	0	LARP4B	899706	1.000000	0.71417	0.803000	0.32268	0.003000	0.03518	4.665000	0.61547	2.440000	0.82611	0.655000	0.94253	TCT		PASS	0.468	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		12	103	12	103	---	---	---	---
SLC16A9	220963	broad.mit.edu	37	10	61414243	61414243	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr10:61414243T>C	ENST00000395348.3	-	5	1177	c.541A>G	c.(541-543)Ata>Gta	p.I181V	SLC16A9_ENST00000395347.1_Missense_Mutation_p.I181V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	181					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.I181V(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGGCTAATATATTTAAAGCT	0.423																																						uc010qig.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(541-543)ATA>GTA		solute carrier family 16 (monocarboxylic acid							102.0	109.0	107.0					10																	61414243		2203	4300	6503	SO:0001583	missense	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61414243T>C	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.541A>G	10.37:g.61414243T>C	ENSP00000378757:p.Ile181Val						p.I181V	NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN			5	990	-			181			Helical; (Potential).		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	c.541A>G	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217927	0.39201	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.56103	0.48;0.48	5.12	5.12	0.69794	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.102638	0.64402	D	0.000003	T	0.44767	0.1309	L	0.33792	1.035	0.43183	D	0.995008	P	0.39809	0.689	B	0.41202	0.35	T	0.31503	-0.9941	10	0.23302	T	0.38	.	14.8987	0.70661	0.0:0.0:0.0:1.0	.	181	Q7RTY1	MOT9_HUMAN	V	181	ENSP00000378757:I181V;ENSP00000378756:I181V	ENSP00000378756:I181V	I	-	1	0	SLC16A9	61084249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.964000	0.49192	1.918000	0.55548	0.482000	0.46254	ATA		PASS	0.423	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		69	97	69	97	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64967767	64967768	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr10:64967767_64967768TC>AA	ENST00000399262.2	-	10	3879_3880	c.3661_3662GA>TT	c.(3661-3663)GAa>TTa	p.E1221L	JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1002L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E1002L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1039L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1221					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.E1002*(1)|p.E1221*(1)|p.E1002L(1)|p.E1221L(1)|p.E1002V(1)|p.E1221V(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)					ATAGCTGCCTTCCTTTCTTTCC	0.441																																						uc001jmn.2																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(3661-3663)GAA>GTA|c.(3661-3663)GAA>TAA		jumonji domain containing 1C isoform a																																				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.chr10:64967767T>A|g.chr10:64967768C>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.3661_3662delinsAA	10.37:g.64967767_64967768delinsAA	ENSP00000382204:p.Glu1221Leu					JMJD1C_uc001jml.2_Missense_Mutation_p.E1002V|JMJD1C_uc001jmm.2_Missense_Mutation_p.E933V|JMJD1C_uc010qiq.1_Missense_Mutation_p.E1039V|JMJD1C_uc009xpi.2_Missense_Mutation_p.E1039V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.E258V|JMJD1C_uc001jml.2_Nonsense_Mutation_p.E1002*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.E933*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.E1039*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.E1039*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.E258*	p.E1221V|p.E1221*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	3962|3961	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1221					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000399262.2	37	c.3662A>T|c.3661G>T	CCDS41532.1																																																																																				PASS	0.441	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		17	137|140	17	137	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692902	89692902	+	Missense_Mutation	SNP	G	G	A	rs121909218		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr10:89692902G>A	ENST00000371953.3	+	5	1743	c.386G>A	c.(385-387)gGa>gAa	p.G129E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	129	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in CWS1; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation). {ECO:0000269|PubMed:9140396}.|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9072974, ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G129V(3)|p.K128_R130del(3)|p.G129E(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.G127fs*5(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTGGAAAGGGACGAACTGGT	0.413		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		61	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(4)	p.G129R(6)|p.R55fs*1(4)|p.G129*(3)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G129V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.G129E(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.F56fs*2(1)|p.G129fs*51(1)	prostate(16)|central_nervous_system(11)|endometrium(7)|lung(6)|skin(6)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM971272	PTEN	M	rs121909218	c.(385-387)GGA>GAA		phosphatase and tensin homolog							142.0	131.0	135.0					10																	89692902		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692902G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.386G>A	10.37:g.89692902G>A	ENSP00000361021:p.Gly129Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G129E	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1417	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	129		G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.386G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029016	0.93518	.	.	ENSG00000171862	ENST00000371953	D	0.85773	-2.03	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	H	0.96691	3.865	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96956	0.9698	8	.	.	.	-11.5269	18.7776	0.91918	0.0:0.0:1.0:0.0	.	129	P60484	PTEN_HUMAN	E	129	ENSP00000361021:G129E	.	G	+	2	0	PTEN	89682882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGA		PASS	0.413	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		43	90	43	90	---	---	---	---
PNPLA2	57104	broad.mit.edu	37	11	822471	822471	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:822471C>T	ENST00000336615.4	+	5	763	c.561C>T	c.(559-561)ttC>ttT	p.F187F	AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	187					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)	p.F187F(1)		breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTCCCCCTTCTCGGGCGAGA	0.572																																						uc001lrt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(559-561)TTC>TTT		patatin-like phospholipase domain containing 2							178.0	151.0	160.0					11																	822471		2203	4299	6502	SO:0001819	synonymous_variant	57104				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	g.chr11:822471C>T	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.561C>T	11.37:g.822471C>T						PNPLA2_uc009ycl.2_5'Flank	p.F187F	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	763	+		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	187			Lumenal (Potential).		O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Silent	SNP	ENST00000336615.4	37	c.561C>T	CCDS7718.1																																																																																				PASS	0.572	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376		11	141	11	141	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6190816	6190816	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:6190816G>A	ENST00000530810.1	-	1	822	c.741C>T	c.(739-741)ctC>ctT	p.L247L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L247L(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGACACAGAGGTGGGAGC	0.488																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(739-741)CTC>CTT		olfactory receptor, family 52, subfamily B,							77.0	77.0	77.0					11																	6190816		2028	4188	6216	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190816G>A	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.741C>T	11.37:g.6190816G>A							p.L247L	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	741	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	247			Helical; Name=6; (Potential).		Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.741C>T	CCDS53598.1																																																																																				PASS	0.488	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		7	60	7	60	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18955526	18955526	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:18955526G>A	ENST00000302797.3	-	1	1030	c.806C>T	c.(805-807)cCc>cTc	p.P269L	MRGPRX1_ENST00000526914.1_5'Flank|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	269					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P269L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTAAATGATGGGGTTGGCACT	0.468																																						uc001mpg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(805-807)CCC>CTC		MAS-related GPR, member X1							81.0	78.0	79.0					11																	18955526		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955526G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.806C>T	11.37:g.18955526G>A	ENSP00000305766:p.Pro269Leu						p.P269L	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	1024	-			269			Helical; Name=7; (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.806C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	18.50	3.637690	0.67130	.	.	ENSG00000170255	ENST00000302797	D	0.98807	-5.15	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	D	0.99242	0.9736	H	0.95679	3.705	0.41104	D	0.985694	D	0.89917	1.0	D	0.91635	0.999	D	0.98623	1.0668	10	0.87932	D	0	.	10.6403	0.45590	0.0:0.0:1.0:0.0	.	269	Q96LB2	MRGX1_HUMAN	L	269	ENSP00000305766:P269L	ENSP00000305766:P269L	P	-	2	0	MRGPRX1	18912102	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	3.204000	0.51082	1.579000	0.49836	0.491000	0.48974	CCC		PASS	0.468	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		13	120	13	120	---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27390301	27390301	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:27390301T>G	ENST00000379214.4	-	18	2412	c.1969A>C	c.(1969-1971)Aat>Cat	p.N657H	LGR4_ENST00000389858.4_Missense_Mutation_p.N633H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	657					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.N657H(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TTGAGATGATTGCTCTTCCCA	0.413																																						uc001mrj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1969-1971)AAT>CAT		leucine-rich repeat-containing G protein-coupled							91.0	88.0	89.0					11																	27390301		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390301T>G	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1969A>C	11.37:g.27390301T>G	ENSP00000368516:p.Asn657His					LGR4_uc001mrk.3_Missense_Mutation_p.N633H	p.N657H	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			18	2454	-			657			Cytoplasmic (Potential).		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.1969A>C	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	T	1.441	-0.567701	0.03910	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.37058	1.23;1.22	5.81	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	0.753768	0.13657	N	0.371868	T	0.18635	0.0447	N	0.08118	0	0.24235	N	0.99538	B;P	0.37612	0.346;0.602	B;B	0.42282	0.382;0.273	T	0.24657	-1.0154	10	0.32370	T	0.25	.	7.557	0.27829	0.0:0.1756:0.4408:0.3836	.	633;657	G5E9B3;Q9BXB1	.;LGR4_HUMAN	H	657;633	ENSP00000368516:N657H;ENSP00000374508:N633H	ENSP00000368516:N657H	N	-	1	0	LGR4	27346877	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.014000	0.13333	-0.757000	0.04697	-1.007000	0.02485	AAT		PASS	0.413	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		13	53	13	53	---	---	---	---
API5	8539	broad.mit.edu	37	11	43350426	43350426	+	Silent	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:43350426C>G	ENST00000531273.1	+	9	1249	c.1110C>G	c.(1108-1110)ctC>ctG	p.L370L	API5_ENST00000455725.2_Silent_p.L359L|RP11-484D2.2_ENST00000526220.1_RNA|Y_RNA_ENST00000516843.1_RNA|API5_ENST00000378852.3_Silent_p.L370L|API5_ENST00000420461.2_Silent_p.L316L|API5_ENST00000534600.1_Silent_p.L370L|API5_ENST00000534695.1_Intron			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	370	Leucine-zipper.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.L370L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CAGAAAAGCTCAAAGATTTCA	0.398																																					Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1108-1110)CTC>CTG		apoptosis inhibitor 5 isoform a							63.0	60.0	61.0					11																	43350426		2203	4300	6503	SO:0001819	synonymous_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43350426C>G	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1110C>G	11.37:g.43350426C>G						API5_uc010rfg.1_Silent_p.L359L|API5_uc001mxf.2_Silent_p.L370L|API5_uc010rfi.1_Silent_p.L316L|API5_uc001mxg.2_Silent_p.L244L	p.L370L	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			9	1283	+			370			Leucine-zipper.		B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	37	c.1110C>G	CCDS44572.1																																																																																				PASS	0.398	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		13	58	13	58	---	---	---	---
ARFGAP2	84364	broad.mit.edu	37	11	47188328	47188328	+	Missense_Mutation	SNP	G	G	A	rs576771926		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:47188328G>A	ENST00000524782.1	-	13	1543	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	ARFGAP2_ENST00000419701.2_Missense_Mutation_p.R332W|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.R303W|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.R170W|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	439	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R439W(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCACCTCCCGCCCAAAGAAC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22045	0.0		0.0	False		,,,				2504	0.0					uc001ndt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1315-1317)CGG>TGG		ADP-ribosylation factor GTPase activating							111.0	109.0	110.0					11																	47188328		2201	4299	6500	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47188328G>A	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1315C>T	11.37:g.47188328G>A	ENSP00000434442:p.Arg439Trp					ARFGAP2_uc010rha.1_Missense_Mutation_p.R170W|ARFGAP2_uc010rhb.1_Missense_Mutation_p.R411W|ARFGAP2_uc001ndu.2_Missense_Mutation_p.R303W|ARFGAP2_uc010rhc.1_Missense_Mutation_p.R170W	p.R439W	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN			13	1330	-			439			Required for interaction with coatomer.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.1315C>T	CCDS7926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.216247|4.216247	0.79352|0.79352	.|.	.|.	ENSG00000149182|ENSG00000149182	ENST00000527776|ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000526342	.|T;T;T;T;T	.|0.21191	.|3.17;3.29;2.89;3.03;2.02	5.91|5.91	2.66|2.66	0.31614|0.31614	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52693|0.52693	0.1750|0.1750	M|M	0.89287|0.89287	3.02|3.02	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.91635	.|0.999;0.916;0.999	T|T	0.66941|0.66941	-0.5796|-0.5796	5|10	.|0.87932	.|D	.|0	-21.3908|-21.3908	16.4197|16.4197	0.83754|0.83754	0.0:0.0:0.6465:0.3535|0.0:0.0:0.6465:0.3535	.|.	.|332;303;439	.|B4DX29;G5E9L0;Q8N6H7	.|.;.;ARFG2_HUMAN	V|W	160|303;439;170;332;146	.|ENSP00000400226:R303W;ENSP00000434442:R439W;ENSP00000327309:R170W;ENSP00000389264:R332W;ENSP00000437305:R146W	.|ENSP00000327309:R170W	A|R	-|-	2|1	0|2	ARFGAP2|ARFGAP2	47144904|47144904	0.576000|0.576000	0.26700|0.26700	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.484000|0.484000	0.22308|0.22308	0.797000|0.797000	0.33971|0.33971	0.655000|0.655000	0.94253|0.94253	GCG|CGG		PASS	0.597	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		12	169	12	169	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872908	55872908	+	Silent	SNP	A	A	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:55872908A>G	ENST00000313503.1	+	1	390	c.390A>G	c.(388-390)ctA>ctG	p.L130L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L130L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCAGTCCTCTACACTACACAG	0.468										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(388-390)CTA>CTG		olfactory receptor, family 8, subfamily H,							193.0	182.0	186.0					11																	55872908		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872908A>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.390A>G	11.37:g.55872908A>G		HNSCC(53;0.14)					p.L130L	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	390	+	Esophageal squamous(21;0.00693)		130			Cytoplasmic (Potential).		Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.390A>G	CCDS31518.1																																																																																				PASS	0.468	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		25	201	25	201	---	---	---	---
OR4D10	390197	broad.mit.edu	37	11	59245380	59245380	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:59245380A>G	ENST00000530162.1	+	1	535	c.478A>G	c.(478-480)Att>Gtt	p.I160V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I158V(1)|p.I160V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCGTGCAGATTTCCCTGTT	0.532																																						uc001nnz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(478-480)ATT>GTT		olfactory receptor, family 4, subfamily D,							106.0	107.0	106.0					11																	59245380		2201	4295	6496	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245380A>G	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.478A>G	11.37:g.59245380A>G	ENSP00000436424:p.Ile160Val						p.I160V	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	478	+			160			Extracellular (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.478A>G	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	A	3.970	-0.008653	0.07727	.	.	ENSG00000254466	ENST00000530162	T	0.00039	8.85	4.71	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.02357	-0.585	0.21020	N	0.999809	B	0.17038	0.02	B	0.25405	0.06	T	0.04593	-1.0940	9	0.34782	T	0.22	.	5.7568	0.18178	0.7417:0.1689:0.0894:0.0	.	160	Q8NGI6	OR4DA_HUMAN	V	160	ENSP00000436424:I160V	ENSP00000436424:I160V	I	+	1	0	OR4D10	59001956	0.000000	0.05858	0.913000	0.36048	0.815000	0.46073	-0.113000	0.10774	0.755000	0.32990	0.533000	0.62120	ATT		PASS	0.532	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		22	125	22	125	---	---	---	---
MS4A6A	64231	broad.mit.edu	37	11	59939686	59939686	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:59939686C>T	ENST00000530839.1	-	8	1184	c.692G>A	c.(691-693)gGc>gAc	p.G231D	MS4A6A_ENST00000323961.3_Missense_Mutation_p.G231D|MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000528851.1_3'UTR|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G259D|MS4A6A_ENST00000420732.2_3'UTR	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	231						integral component of membrane (GO:0016021)		p.G231D(1)|p.G259D(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAGGACATGCCAGAATTACC	0.328																																						uc001nor.2																			2	Substitution - Missense(2)		lung(2)		0						c.(691-693)GGC>GAC		membrane-spanning 4-domains, subfamily A, member							138.0	137.0	137.0					11																	59939686		2201	4291	6492	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59939686C>T	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.692G>A	11.37:g.59939686C>T	ENSP00000436979:p.Gly231Asp					MS4A6A_uc001noq.2_3'UTR|MS4A6A_uc001nos.3_Missense_Mutation_p.G259D|MS4A6A_uc009ymv.2_Missense_Mutation_p.G231D	p.G231D	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN			7	930	-			231			Cytoplasmic (Potential).		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.692G>A	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.704470	0.00719	.	.	ENSG00000110077	ENST00000323961;ENST00000530839;ENST00000529054	T;T;T	0.04317	3.71;3.71;3.65	3.05	-6.1	0.02138	.	654.908000	0.01053	U	0.004509	T	0.02494	0.0076	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.09377	0.004;0.004	T	0.41556	-0.9502	10	0.11794	T	0.64	.	2.8719	0.05619	0.114:0.3332:0.1102:0.4426	.	259;231	E9PSA9;Q9H2W1	.;M4A6A_HUMAN	D	231;231;259	ENSP00000315878:G231D;ENSP00000436979:G231D;ENSP00000435844:G259D	ENSP00000315878:G231D	G	-	2	0	MS4A6A	59696262	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.598000	0.02087	-2.429000	0.00558	-2.726000	0.00130	GGC		PASS	0.328	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			23	181	23	181	---	---	---	---
SF3B2	10992	broad.mit.edu	37	11	65835515	65835515	+	Splice_Site	SNP	C	C	T	rs372951764		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:65835515C>T	ENST00000322535.6	+	20	2478	c.2429C>T	c.(2428-2430)aCg>aTg	p.T810M	SF3B2_ENST00000528302.1_Splice_Site_p.T793M|PACS1_ENST00000320580.4_5'Flank|RP11-1167A19.2_ENST00000529036.1_Intron	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	810					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.T810M(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GACATGTCCACGGTGAGTACT	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ogy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2428-2430)ACG>ATG		splicing factor 3B subunit 2		C	MET/THR	0,4402		0,0,2201	136.0	135.0	135.0		2429	5.7	1.0	11		135	1,8589	1.2+/-3.3	0,1,4294	no	missense-near-splice	SF3B2	NM_006842.2	81	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	810/896	65835515	1,12991	2201	4295	6496	SO:0001630	splice_region_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65835515C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2430+1C>T	11.37:g.65835515C>T			OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1087	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank	p.T810M	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			20	2469	+			810					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.2429C>T	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.216161|3.216161	0.58452|0.58452	0.0|0.0	1.16E-4|1.16E-4	ENSG00000087365|ENSG00000087365	ENST00000530981|ENST00000528302;ENST00000322535;ENST00000355456	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.144593	.|0.64402	.|D	.|0.000009	T|T	0.52092|0.52092	0.1713|0.1713	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.39424	.|0.673	.|B	.|0.24974	.|0.057	T|T	0.60362|0.60362	-0.7278|-0.7278	5|9	.|0.59425	.|D	.|0.04	-23.5253|-23.5253	17.214|17.214	0.86938|0.86938	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|810	.|Q13435	.|SF3B2_HUMAN	W|M	230|793;810;714	.|.	.|ENSP00000318861:T810M	R|T	+|+	1|2	2|0	SF3B2|SF3B2	65592091|65592091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	2.898000|2.898000	0.48672|0.48672	2.660000|2.660000	0.90430|0.90430	0.555000|0.555000	0.69702|0.69702	CGG|ACG		PASS	0.512	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		Missense_Mutation	16	122	16	122	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103091471	103091471	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:103091471G>C	ENST00000375735.2	+	57	9210	c.9066G>C	c.(9064-9066)agG>agC	p.R3022S	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3022S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3022	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R455S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAGTTTTAAGGTTGATGGGTA	0.358																																						uc001pho.2																			1	Substitution - Missense(1)		lung(1)		0						c.(9064-9066)AGG>AGC		dynein, cytoplasmic 2, heavy chain 1							84.0	80.0	81.0					11																	103091471		1857	4107	5964	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103091471G>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9066G>C	11.37:g.103091471G>C	ENSP00000364887:p.Arg3022Ser					DYNC2H1_uc001phn.1_Missense_Mutation_p.R3022S|DYNC2H1_uc009yxe.1_Intron	p.R3022S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	57	9210	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3022			Stalk (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.9066G>C	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855777	0.71834	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.73897	-0.79;-0.79	6.17	3.26	0.37387	Dynein heavy chain, coiled coil stalk (1);	0.081632	0.64402	D	0.000002	D	0.84419	0.5468	M	0.83603	2.65	0.58432	D	0.999999	D;D	0.67145	0.996;0.991	D;P	0.66196	0.942;0.872	D	0.85467	0.1170	10	0.72032	D	0.01	.	10.9315	0.47220	0.2652:0.0:0.7348:0.0	.	3022;3022	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	3022	ENSP00000364887:R3022S;ENSP00000381167:R3022S	ENSP00000364887:R3022S	R	+	3	2	DYNC2H1	102596681	0.998000	0.40836	0.978000	0.43139	0.998000	0.95712	0.522000	0.22909	0.912000	0.36772	0.655000	0.94253	AGG		PASS	0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		9	85	9	85	---	---	---	---
TTC36	143941	broad.mit.edu	37	11	118398237	118398237	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:118398237C>T	ENST00000302783.4	+	1	51	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	RP11-770J1.3_ENST00000525992.2_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	10								p.L10L(1)		lung(2)	2						TCAGGCAGTGCTGCAGGCCAT	0.527																																						uc001ptg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)CTG>TTG		tetratricopeptide repeat domain 36							179.0	175.0	176.0					11																	118398237		2200	4295	6495	SO:0001819	synonymous_variant	143941						binding	g.chr11:118398237C>T	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"""Tetratricopeptide (TTC) repeat domain containing"""	33708	protein-coding gene	gene with protein product	"""HSP70 binding protein 21"""						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.28C>T	11.37:g.118398237C>T						TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR	p.L10L	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN			1	28	+			10					B7ZW72|B9EJD8	Silent	SNP	ENST00000302783.4	37	c.28C>T	CCDS31687.1																																																																																				PASS	0.527	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2	NM_001080441		33	152	33	152	---	---	---	---
SCN3B	55800	broad.mit.edu	37	11	123524489	123524489	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr11:123524489C>A	ENST00000392770.2	-	1	823	c.21G>T	c.(19-21)ttG>ttT	p.L7F	SCN3B_ENST00000299333.3_Missense_Mutation_p.L7F|SCN3B_ENST00000530277.1_Missense_Mutation_p.L7F	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	7					atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.L7F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAGGGGAAACAATCTATTGA	0.512																																						uc001pza.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(19-21)TTG>TTT		voltage-gated sodium channel beta-3 subunit							176.0	178.0	177.0					11																	123524489		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123524489C>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.21G>T	11.37:g.123524489C>A	ENSP00000376523:p.Leu7Phe					SCN3B_uc001pzb.1_Missense_Mutation_p.L7F	p.L7F	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	2	428	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	7					A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.21G>T	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.278007	0.59758	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	D;D;D;D;D	0.98264	-4.06;-4.06;-4.06;-4.83;-3.51	4.97	4.97	0.65823	.	0.659747	0.14755	N	0.300331	D	0.94810	0.8324	N	0.22421	0.69	0.42436	D	0.992691	B	0.20368	0.044	B	0.12837	0.008	D	0.92019	0.5624	10	0.15952	T	0.53	-0.0834	14.1029	0.65068	0.0:1.0:0.0:0.0	.	7	Q9NY72	SCN3B_HUMAN	F	7	ENSP00000376523:L7F;ENSP00000299333:L7F;ENSP00000432785:L7F;ENSP00000435554:L7F;ENSP00000434363:L7F	ENSP00000299333:L7F	L	-	3	2	SCN3B	123029699	0.998000	0.40836	0.986000	0.45419	0.988000	0.76386	3.499000	0.53310	2.452000	0.82932	0.591000	0.81541	TTG		PASS	0.512	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		32	198	32	198	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	495116	495116	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:495116C>G	ENST00000399788.2	-	2	552	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.E64Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	64					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E64Q(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTTTTACTTCACAGGCAAAT	0.368			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(190-192)GAA>CAA		retinoblastoma binding protein 2 isoform 1							90.0	87.0	88.0					12																	495116		1824	4090	5914	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:495116C>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.190G>C	12.37:g.495116C>G	ENSP00000382688:p.Glu64Gln					KDM5A_uc001qie.1_Missense_Mutation_p.E64Q|KDM5A_uc010sdn.1_Missense_Mutation_p.E64Q|KDM5A_uc010sdo.1_Intron	p.E64Q	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			2	553	-			64					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.190G>C	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002782	0.93287	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815;ENST00000535014;ENST00000536014;ENST00000543507	D;D;T;D;D	0.85339	-1.97;-1.78;-1.14;-1.8;-1.71	5.51	5.51	0.81932	.	0.056746	0.64402	D	0.000001	D	0.89146	0.6632	L	0.47716	1.5	0.58432	D	0.999998	B;B;P	0.47191	0.226;0.262;0.891	B;B;P	0.57057	0.398;0.224;0.812	D	0.89797	0.3972	10	0.87932	D	0	-20.3336	19.4152	0.94694	0.0:1.0:0.0:0.0	.	64;64;64	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	Q	64;64;64;64;45;73	ENSP00000382688:E64Q;ENSP00000372265:E64Q;ENSP00000443854:E64Q;ENSP00000438203:E45Q;ENSP00000444251:E73Q	ENSP00000372265:E64Q	E	-	1	0	KDM5A	365377	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.569000	0.82380	2.587000	0.87381	0.460000	0.39030	GAA		PASS	0.368	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		16	79	16	79	---	---	---	---
C1S	716	broad.mit.edu	37	12	7172571	7172571	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:7172571G>A	ENST00000406697.1	+	9	1313	c.685G>A	c.(685-687)Gac>Aac	p.D229N	C1S_ENST00000328916.3_Missense_Mutation_p.D229N|C1S_ENST00000360817.5_Missense_Mutation_p.D229N|C1S_ENST00000402681.3_Missense_Mutation_p.D62N			P09871	C1S_HUMAN	complement component 1, s subcomponent	229	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.D229N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAGCAGCTGACTCAGCGGG	0.463																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(685-687)GAC>AAC		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						122.0	123.0	123.0					12																	7172571		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172571G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.685G>A	12.37:g.7172571G>A	ENSP00000385035:p.Asp229Asn					C1S_uc001qsk.2_Missense_Mutation_p.D229N|C1S_uc001qsl.2_Missense_Mutation_p.D229N|C1S_uc009zfr.2_Missense_Mutation_p.D62N|C1S_uc009zfs.2_RNA	p.D229N	NM_201442	NP_958850	P09871	C1S_HUMAN			9	1404	+			229			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.685G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798639	0.31777	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000402681;ENST00000542978	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	6.17	6.17	0.99709	CUB (5);	0.000000	0.44285	D	0.000475	T	0.29158	0.0725	M	0.62209	1.925	0.42395	D	0.992542	B	0.14438	0.01	B	0.23716	0.048	T	0.02378	-1.1168	10	0.34782	T	0.22	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	229	P09871	C1S_HUMAN	N	229;229;229;62;62	ENSP00000385035:D229N;ENSP00000328173:D229N;ENSP00000354057:D229N;ENSP00000384171:D62N;ENSP00000442298:D62N	ENSP00000328173:D229N	D	+	1	0	C1S	7042832	0.995000	0.38212	0.109000	0.21407	0.056000	0.15407	3.966000	0.56795	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.463	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		18	192	18	192	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15650234	15650234	+	Silent	SNP	A	A	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:15650234A>C	ENST00000281171.4	+	3	735	c.405A>C	c.(403-405)acA>acC	p.T135T	PTPRO_ENST00000348962.2_Silent_p.T135T|PTPRO_ENST00000543886.1_Silent_p.T135T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	135					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.T135T(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTCCTGAAACAGGAGTCCTGT	0.373																																						uc001rcv.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(403-405)ACA>ACC		receptor-type protein tyrosine phosphatase O							115.0	128.0	124.0					12																	15650234		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15650234A>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.405A>C	12.37:g.15650234A>C						PTPRO_uc001rcw.1_Silent_p.T135T|PTPRO_uc001rcu.1_Silent_p.T135T	p.T135T	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			3	579	+		Hepatocellular(102;0.244)	135			Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.405A>C	CCDS8675.1																																																																																				PASS	0.373	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			26	190	26	190	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32137042	32137042	+	Silent	SNP	A	A	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:32137042A>T	ENST00000312561.4	+	4	3567	c.3153A>T	c.(3151-3153)ctA>ctT	p.L1051L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1051								p.L1051L(1)									TCTTATACCTACATGACCAGC	0.438																																						uc001rks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(3151-3153)CTA>CTT		hypothetical protein LOC55196							147.0	138.0	141.0					12																	32137042		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32137042A>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3153A>T	12.37:g.32137042A>T							p.L1051L	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	3567	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1051					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.3153A>T	CCDS8725.2																																																																																				PASS	0.438	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		31	124	31	124	---	---	---	---
RACGAP1	29127	broad.mit.edu	37	12	50387974	50387974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:50387974G>A	ENST00000427314.2	-	14	1502	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	RACGAP1_ENST00000454520.2_Nonsense_Mutation_p.R427*|RACGAP1_ENST00000434422.1_Nonsense_Mutation_p.R427*|RACGAP1_ENST00000547905.1_Nonsense_Mutation_p.R427*|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000312377.5_Nonsense_Mutation_p.R427*|RACGAP1_ENST00000551016.1_Nonsense_Mutation_p.R427*|RACGAP1_ENST00000548961.1_5'Flank	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1									p.R427*(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTGAGGTTTCGAAGAAAGTCT	0.423																																						uc001rvt.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(1279-1281)CGA>TGA		Rac GTPase activating protein 1							136.0	132.0	133.0					12																	50387974		2203	4300	6503	SO:0001587	stop_gained	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50387974G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1279C>T	12.37:g.50387974G>A	ENSP00000404190:p.Arg427*					RACGAP1_uc009zlm.1_Nonsense_Mutation_p.R427*|RACGAP1_uc001rvs.2_Nonsense_Mutation_p.R427*|RACGAP1_uc001rvu.2_Nonsense_Mutation_p.R427*	p.R427*	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			14	1589	-			427			Rho-GAP.			Nonsense_Mutation	SNP	ENST00000427314.2	37	c.1279C>T	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.748593	0.96882	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	.	.	.	5.35	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9718	13.0254	0.58812	0.0:0.0:0.5842:0.4158	.	.	.	.	X	427;427;427;427;427;427;163	.	ENSP00000309871:R427X	R	-	1	2	RACGAP1	48674241	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.009000	0.57110	1.238000	0.43771	-0.277000	0.10078	CGA		PASS	0.423	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		21	121	21	121	---	---	---	---
HNRNPA1	3178	broad.mit.edu	37	12	54678102	54678102	+	Splice_Site	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:54678102G>T	ENST00000340913.6	+	10	1176		c.e10+1		HNRNPA1_ENST00000546500.1_Splice_Site|HNRNPA1_ENST00000547276.1_Splice_Site|HNRNPA1_ENST00000330752.8_Splice_Site|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1						cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTTAATTAGGTAAGTAAGCA	0.368																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2																			0				skin(2)|ovary(1)	3						c.e10+1		heterogeneous nuclear ribonucleoprotein A1							74.0	71.0	72.0					12																	54678102		1850	4099	5949	SO:0001630	splice_region_variant	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54678102G>T	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.1116+1G>T	12.37:g.54678102G>T						HNRNPA1_uc001sfm.2_Splice_Site|HNRNPA1_uc009zng.2_Intron|HNRNPA1_uc009znh.2_Splice_Site|HNRNPA1_uc009zni.2_Splice_Site|HNRNPA1_uc001sfn.2_Splice_Site|HNRNPA1_uc001sfo.3_Splice_Site|HNRNPA1_uc009znj.1_3'UTR		NM_031157	NP_112420	P09651	ROA1_HUMAN			10	1227	+								A8K4Z8|Q3MIB7|Q6PJZ7	Splice_Site	SNP	ENST00000340913.6	37	c.1123_splice	CCDS44909.1																																																																																				PASS	0.368	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157	Intron	7	56	7	56	---	---	---	---
OR6C76	390326	broad.mit.edu	37	12	55820491	55820491	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:55820491G>C	ENST00000328314.3	+	1	454	c.454G>C	c.(454-456)Gta>Cta	p.V152L		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V152L(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGTTTCTTGGTAATTTTTCC	0.443																																						uc010spm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GTA>CTA		olfactory receptor, family 6, subfamily C,							82.0	79.0	80.0					12																	55820491		2203	4299	6502	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820491G>C		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.454G>C	12.37:g.55820491G>C	ENSP00000328402:p.Val152Leu						p.V152L	NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN			1	454	+			152			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000328314.3	37	c.454G>C	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	g	10.17	1.277960	0.23307	.	.	ENSG00000185821	ENST00000328314	T	0.34072	1.38	4.26	0.514	0.17007	GPCR, rhodopsin-like superfamily (1);	0.177013	0.26899	U	0.021924	T	0.21267	0.0512	N	0.20445	0.575	0.09310	N	1	B	0.15473	0.013	B	0.22386	0.039	T	0.19128	-1.0315	10	0.49607	T	0.09	.	8.1059	0.30885	0.5229:0.0:0.4771:0.0	.	152	A6NM76	O6C76_HUMAN	L	152	ENSP00000328402:V152L	ENSP00000328402:V152L	V	+	1	0	OR6C76	54106758	0.000000	0.05858	0.006000	0.13384	0.968000	0.65278	-3.500000	0.00450	0.237000	0.21200	0.531000	0.56144	GTA		PASS	0.443	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		21	116	21	116	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57919593	57919593	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:57919593A>C	ENST00000355673.3	+	6	1198	c.842A>C	c.(841-843)cAc>cCc	p.H281P	MBD6_ENST00000431731.2_Missense_Mutation_p.H281P	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	281	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.H281P(3)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCCCCGCCCACCCTGGTCCT	0.662																																						uc001soj.1																			3	Substitution - Missense(3)		lung(2)|endometrium(1)	central_nervous_system(3)|ovary(1)	4						c.(841-843)CAC>CCC		methyl-CpG binding domain protein 6							36.0	46.0	43.0					12																	57919593		2199	4294	6493	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919593A>C	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.842A>C	12.37:g.57919593A>C	ENSP00000347896:p.His281Pro					MBD6_uc001sok.1_Missense_Mutation_p.H148P|MBD6_uc001sol.1_5'Flank	p.H281P	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			6	1066	+			281			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.842A>C	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.137983	0.00335	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.5	2.6	0.31112	.	0.479032	0.17493	N	0.172275	T	0.20577	0.0495	N	0.08118	0	0.26694	N	0.971305	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17048	-1.0382	8	.	.	.	.	9.9288	0.41510	0.2149:0.7851:0.0:0.0	.	281;281	Q6P0P0;Q96DN6	.;MBD6_HUMAN	P	281	.	.	H	+	2	0	MBD6	56205860	0.123000	0.22298	0.977000	0.42913	0.405000	0.30901	1.709000	0.37909	1.013000	0.39391	-0.426000	0.05927	CAC		PASS	0.662	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			10	68	10	68	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	64011105	64011105	+	Silent	SNP	A	A	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:64011105A>C	ENST00000324472.4	-	11	1380	c.1197T>G	c.(1195-1197)tcT>tcG	p.S399S		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	399					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.S399S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ACAAAGATGAAGAATAATAAG	0.279																																						uc001srp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1195-1197)TCT>TCG		dpy-19-like 2							30.0	28.0	29.0					12																	64011105		2199	4279	6478	SO:0001819	synonymous_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64011105A>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1197T>G	12.37:g.64011105A>C						DPY19L2_uc009zqk.1_RNA	p.S399S	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	11	1378	-			399					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	c.1197T>G	CCDS31851.1																																																																																				PASS	0.279	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		6	34	6	34	---	---	---	---
TCTN1	79600	broad.mit.edu	37	12	111070361	111070361	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:111070361G>C	ENST00000551590.1	+	5	865	c.709G>C	c.(709-711)Gca>Cca	p.A237P	TCTN1_ENST00000397655.3_Missense_Mutation_p.A237P|TCTN1_ENST00000377654.3_Missense_Mutation_p.A59P|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.A237P|AC144522.1_ENST00000408319.1_RNA|TCTN1_ENST00000551555.2_3'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	237					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.A237P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TAATAACCCTGCAGGTAAGAA	0.408																																						uc009zvs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GCA>CCA		tectonic family member 1 isoform 2							161.0	149.0	153.0					12																	111070361		1873	4115	5988	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111070361G>C	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.709G>C	12.37:g.111070361G>C	ENSP00000448735:p.Ala237Pro					TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.A177P|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.A237P|TCTN1_uc001trn.3_Missense_Mutation_p.A237P|TCTN1_uc001trj.1_Missense_Mutation_p.A181P|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	p.A237P	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			5	817	+			237					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.709G>C	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766792	0.90020	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000547868;ENST00000548095;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.97	5.07	0.68467	Domain of unknown function DUF1619 (1);	0.283436	0.37857	N	0.001901	D	0.90810	0.7114	M	0.81802	2.56	0.41815	D	0.989992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.988;0.988;0.998;0.993	D	0.91504	0.5221	10	0.72032	D	0.01	-21.5207	14.2556	0.66051	0.0731:0.0:0.9268:0.0	.	237;237;237;177;181	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	P	177;237;237;59;59;237;59;237;181	ENSP00000448735:A237P;ENSP00000380775:A237P;ENSP00000366882:A59P;ENSP00000380779:A237P	ENSP00000366882:A59P	A	+	1	0	TCTN1	109554744	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.555000	0.60767	2.835000	0.97688	0.591000	0.81541	GCA		PASS	0.408	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		28	113	28	113	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120195326	120195326	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr12:120195326G>C	ENST00000261833.7	-	21	2481	c.2429C>G	c.(2428-2430)tCt>tGt	p.S810C	CIT_ENST00000392521.2_Missense_Mutation_p.S852C|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	810					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S853C(1)|p.S810C(1)|p.S852C(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTGAGTTCAGAAATCATCTC	0.527																																						uc001txi.1																			3	Substitution - Missense(3)		lung(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(2428-2430)TCT>TGT		citron							117.0	112.0	113.0					12																	120195326		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120195326G>C	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2429C>G	12.37:g.120195326G>C	ENSP00000261833:p.Ser810Cys					CIT_uc001txh.1_Missense_Mutation_p.S344C|CIT_uc001txj.1_Missense_Mutation_p.S852C	p.S810C	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	21	2482	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	810			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2429C>G	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.207033|4.207033	0.79127|0.79127	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.67345	.|-0.2;-0.26	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.73697|0.73697	0.3620|0.3620	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;P;D	.|0.68483	.|0.921;0.908;0.958	T|T	0.76666|0.76666	-0.2875|-0.2875	5|10	.|0.72032	.|D	.|0.01	.|.	19.4686|19.4686	0.94952|0.94952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|852;810;343	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	V|C	438|852;810	.|ENSP00000376306:S852C;ENSP00000261833:S810C	.|ENSP00000261833:S810C	L|S	-|-	1|2	2|0	CIT|CIT	118679709|118679709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.206000|9.206000	0.95056|0.95056	2.608000|2.608000	0.88229|0.88229	0.655000|0.655000	0.94253|0.94253	CTG|TCT		PASS	0.527	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		21	131	21	131	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35615106	35615106	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr13:35615106A>G	ENST00000400445.3	+	2	865	c.331A>G	c.(331-333)Att>Gtt	p.I111V	NBEA_ENST00000540320.1_Missense_Mutation_p.I111V|NBEA_ENST00000379939.2_Missense_Mutation_p.I111V|NBEA_ENST00000310336.4_Missense_Mutation_p.I111V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	111					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.I111V(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATGAACTTTATTATCCAGGA	0.383																																						uc001uvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(331-333)ATT>GTT		neurobeachin							129.0	117.0	121.0					13																	35615106		1871	4122	5993	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35615106A>G	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.331A>G	13.37:g.35615106A>G	ENSP00000383295:p.Ile111Val						p.I111V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	3	537	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	111					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.331A>G	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328435	0.60743	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	L	0.43152	1.355	0.80722	D	1	P	0.43314	0.803	P	0.58873	0.847	T	0.49862	-0.8894	10	0.20046	T	0.44	.	16.0549	0.80794	1.0:0.0:0.0:0.0	.	111	Q5T321	.	V	111	ENSP00000440951:I111V;ENSP00000383295:I111V;ENSP00000369271:I111V;ENSP00000308534:I111V	ENSP00000308534:I111V	I	+	1	0	NBEA	34513106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.193000	0.70182	0.477000	0.44152	ATT		PASS	0.383	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		18	195	18	195	---	---	---	---
EPSTI1	94240	broad.mit.edu	37	13	43462602	43462602	+	IGR	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr13:43462602T>C	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313624.7_3'UTR|EPSTI1_ENST00000313640.7_Silent_p.S339S			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)									p.S339S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GGTCAGTTGATGAAGGCCAGA	0.368																																						uc001uyw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1015-1017)TCA>TCG		epithelial stromal interaction 1 isoform 1							74.0	78.0	77.0					13																	43462602		2203	4300	6503	SO:0001628	intergenic_variant	94240							g.chr13:43462602T>C	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462602T>C						EPSTI1_uc001uyx.1_3'UTR	p.S339S	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	13	1093	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	Error:Variant_position_missing_in_Q96J88_after_alignment					Q8IVC7|Q8NDQ7	Silent	SNP	ENST00000398762.3	37	c.1017A>G	CCDS9387.1																																																																																				PASS	0.368	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		5	137	5	137	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77672487	77672487	+	Silent	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr13:77672487T>C	ENST00000544440.2	-	56	8705	c.8688A>G	c.(8686-8688)gaA>gaG	p.E2896E	MYCBP2_ENST00000357337.6_Silent_p.E2896E|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Silent_p.E419E|MYCBP2_ENST00000407578.2_Silent_p.E2934E|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase									p.E2896E(2)|p.E2934E(1)|p.E419E(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGTGCAGACTTCGACCACCT	0.433																																						uc001vkf.2																			4	Substitution - coding silent(4)		lung(4)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(8686-8688)GAA>GAG		MYC binding protein 2							90.0	90.0	90.0					13																	77672487		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672487T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8688A>G	13.37:g.77672487T>C						MYCBP2_uc010aev.2_Silent_p.E2300E|MYCBP2_uc001vkg.1_Silent_p.E419E|MYCBP2_uc010aew.2_Silent_p.E282E	p.E2896E	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	57	8779	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2896						Silent	SNP	ENST00000544440.2	37	c.8688A>G																																																																																					PASS	0.433	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		9	127	9	127	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77900608	77900608	+	Splice_Site	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr13:77900608C>T	ENST00000544440.2	-	1	206		c.e1+1		MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site|MYCBP2_ENST00000407578.2_Splice_Site					MYC binding protein 2, E3 ubiquitin protein ligase									p.?(3)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGGGGACGCACCTGGAGGCTG	0.692																																						uc001vkf.2																			3	Unknown(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.e2+1		MYC binding protein 2							18.0	20.0	19.0					13																	77900608		2198	4294	6492	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77900608C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.188+1G>A	13.37:g.77900608C>T						MYCBP2_uc010aev.2_Intron	p.R63_splice	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	2	279	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)							Splice_Site	SNP	ENST00000544440.2	37	c.188_splice		.	.	.	.	.	.	.	.	.	.	C	19.44	3.828305	0.71143	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4909	0.61395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYCBP2	76798609	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.913000	0.48790	2.189000	0.69895	0.655000	0.94253	.		PASS	0.692	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Intron	4	39	4	39	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84455087	84455087	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr13:84455087C>G	ENST00000377084.2	-	1	1441	c.556G>C	c.(556-558)Ggt>Cgt	p.G186R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	186					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.G186R(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)		AGCCTGTTACCCCGGAGGTCG	0.527																																						uc001vlk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(556-558)GGT>CGT		slit and trk like 1 protein precursor							88.0	87.0	87.0					13																	84455087		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455087C>G	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.556G>C	13.37:g.84455087C>G	ENSP00000366288:p.Gly186Arg						p.G186R	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1442	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	186			Extracellular (Potential).|LRR 6.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.556G>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362933	0.61403	.	.	ENSG00000178235	ENST00000377084	T	0.60424	0.19	4.72	4.72	0.59763	.	0.057177	0.64402	D	0.000001	T	0.71195	0.3311	L	0.55017	1.72	0.80722	D	1	D	0.64830	0.994	D	0.68765	0.96	T	0.74503	-0.3644	10	0.87932	D	0	-5.3434	16.4091	0.83701	0.0:1.0:0.0:0.0	.	186	Q96PX8	SLIK1_HUMAN	R	186	ENSP00000366288:G186R	ENSP00000366288:G186R	G	-	1	0	SLITRK1	83353088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.461000	0.83175	0.561000	0.74099	GGT		PASS	0.527	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		5	121	5	121	---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96293633	96293633	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr13:96293633C>T	ENST00000376829.2	-	5	1364	c.513G>A	c.(511-513)aaG>aaA	p.K171K	DZIP1_ENST00000361156.3_Silent_p.K171K|DZIP1_ENST00000361396.2_Silent_p.K171K|DZIP1_ENST00000347108.3_Silent_p.K171K|DZIP1_ENST00000466027.1_5'UTR	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	171					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K171K(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCTTGAGCGTCTTGATCTCCC	0.602																																						uc001vmk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(511-513)AAG>AAA		DAZ interacting protein 1 isoform 2							110.0	70.0	84.0					13																	96293633		2203	4300	6503	SO:0001819	synonymous_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96293633C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.513G>A	13.37:g.96293633C>T						DZIP1_uc001vml.2_Silent_p.K171K|DZIP1_uc001vmn.2_Silent_p.K160K	p.K171K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		5	1365	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		171					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	c.513G>A	CCDS9478.1																																																																																				PASS	0.602	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		4	41	4	41	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97999141	97999141	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr13:97999141C>G	ENST00000376673.3	+	5	1405	c.624C>G	c.(622-624)atC>atG	p.I208M	MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Missense_Mutation_p.I208M|MBNL2_ENST00000397601.1_Missense_Mutation_p.I208M|MBNL2_ENST00000345429.6_Missense_Mutation_p.I208M			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	208					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I208M(2)		endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			GCACCATGATCGACACAAGTG	0.527																																						uc010aft.2																			2	Substitution - Missense(2)		lung(2)		0						c.(622-624)ATC>ATG		muscleblind-like 2 isoform 1							94.0	89.0	91.0					13																	97999141		2203	4300	6503	SO:0001583	missense	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97999141C>G	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.624C>G	13.37:g.97999141C>G	ENSP00000365861:p.Ile208Met					MBNL2_uc001vmz.2_Missense_Mutation_p.I208M|MBNL2_uc001vna.2_Missense_Mutation_p.I208M|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron|MBNL2_uc001vnc.2_5'Flank	p.I208M	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		5	1440	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		208					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.624C>G		.	.	.	.	.	.	.	.	.	.	C	17.99	3.524064	0.64747	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.86	3.9	0.45041	.	0.093073	0.64402	D	0.000001	T	0.58779	0.2146	M	0.69358	2.11	0.80722	D	1	B;D;D	0.67145	0.048;0.993;0.996	B;P;D	0.69654	0.058;0.901;0.965	T	0.61038	-0.7143	10	0.62326	D	0.03	.	4.1846	0.10392	0.0:0.5497:0.0:0.4503	.	208;208;208	Q5VZF2;A2A3S3;Q5VZF2-2	MBNL2_HUMAN;.;.	M	208	ENSP00000380726:I208M;ENSP00000344214:I208M;ENSP00000267287:I208M;ENSP00000365861:I208M	ENSP00000344214:I208M	I	+	3	3	MBNL2	96797142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.058000	0.41374	1.492000	0.48499	0.585000	0.79938	ATC		PASS	0.527	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		27	56	27	56	---	---	---	---
SLC7A8	23428	broad.mit.edu	37	14	23609702	23609702	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr14:23609702C>T	ENST00000316902.7	-	5	1491	c.766G>A	c.(766-768)Gag>Aag	p.E256K	SLC7A8_ENST00000453702.1_Missense_Mutation_p.E53K|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000469263.1_Missense_Mutation_p.E256K|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Missense_Mutation_p.E151K	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	256					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.E256K(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	ACAAGCTCCTCAGTCACGTAA	0.527																																						uc001wiz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(766-768)GAG>AAG		solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						165.0	164.0	164.0					14																	23609702		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23609702C>T	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.766G>A	14.37:g.23609702C>T	ENSP00000320378:p.Glu256Lys					SLC7A8_uc001wix.2_Missense_Mutation_p.E53K|SLC7A8_uc010tnk.1_Intron|SLC7A8_uc010tnl.1_Missense_Mutation_p.E151K|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Missense_Mutation_p.E256K	p.E256K	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	5	1492	-	all_cancers(95;4.6e-05)		256					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.766G>A	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515720	0.96402	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000469263;ENST00000453702;ENST00000529705;ENST00000206514	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.97	4.97	0.65823	Amino acid permease domain (1);	0.108957	0.64402	D	0.000011	D	0.96722	0.8930	H	0.94462	3.54	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	0.97837	1.0266	10	0.87932	D	0	.	17.3978	0.87451	0.0:1.0:0.0:0.0	.	151;256;256	B4DKT4;E9PLV9;Q9UHI5	.;.;LAT2_HUMAN	K	256;53;256;53;151;53	ENSP00000320378:E256K;ENSP00000435114:E256K;ENSP00000391577:E53K;ENSP00000434345:E151K	ENSP00000206514:E53K	E	-	1	0	SLC7A8	22679542	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.137000	0.77295	2.474000	0.83562	0.563000	0.77884	GAG		PASS	0.527	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			6	199	6	199	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35231112	35231112	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr14:35231112T>C	ENST00000382422.2	-	23	4421	c.4094A>G	c.(4093-4095)aAt>aGt	p.N1365S	BAZ1A_ENST00000360310.1_Missense_Mutation_p.N1365S|BAZ1A_ENST00000358716.4_Missense_Mutation_p.N1333S			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1365					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.N1365S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TGGTGTATTATTAGCACTTTT	0.428																																						uc001wsk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(4093-4095)AAT>AGT		bromodomain adjacent to zinc finger domain, 1A							208.0	201.0	203.0					14																	35231112		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35231112T>C	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4094A>G	14.37:g.35231112T>C	ENSP00000371859:p.Asn1365Ser					BAZ1A_uc001wsl.2_Missense_Mutation_p.N1333S	p.N1365S	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	24	4662	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1365					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.4094A>G	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	.	9.393	1.076118	0.20227	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.47528	0.84;0.84;0.84	6.04	4.91	0.64330	.	0.778652	0.13017	N	0.420353	T	0.28896	0.0717	N	0.14661	0.345	0.26822	N	0.968777	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.15407	-1.0438	10	0.07813	T	0.8	.	11.9034	0.52697	0.0:0.0673:0.0:0.9327	.	1333;1365	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	S	1333;1365;1365;1017	ENSP00000351555:N1333S;ENSP00000371859:N1365S;ENSP00000353458:N1365S	ENSP00000351555:N1333S	N	-	2	0	BAZ1A	34300863	0.004000	0.15560	0.818000	0.32626	0.695000	0.40330	0.285000	0.18883	1.120000	0.41904	0.460000	0.39030	AAT		PASS	0.428	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			49	125	49	125	---	---	---	---
FBXO34	55030	broad.mit.edu	37	14	55817179	55817179	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr14:55817179G>C	ENST00000313833.4	+	2	316	c.71G>C	c.(70-72)aGa>aCa	p.R24T	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.R24T	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	24								p.R24T(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAAACGCAGAGAACTCCTATG	0.453																																						uc001xbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(70-72)AGA>ACA		F-box only protein 34							88.0	83.0	85.0					14																	55817179		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55817179G>C	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.71G>C	14.37:g.55817179G>C	ENSP00000313159:p.Arg24Thr					FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.R24T	p.R24T	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN			2	316	+			24					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.71G>C	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957437	0.53400	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.29917	1.55;1.55	4.58	1.64	0.23874	.	0.456485	0.20608	U	0.089029	T	0.32852	0.0843	L	0.54323	1.7	0.09310	N	1	P	0.48016	0.904	P	0.48227	0.571	T	0.13335	-1.0513	10	0.72032	D	0.01	-29.2377	7.6904	0.28565	0.1512:0.1351:0.7137:0.0	.	24	Q9NWN3	FBX34_HUMAN	T	24	ENSP00000313159:R24T;ENSP00000394117:R24T	ENSP00000313159:R24T	R	+	2	0	FBXO34	54886932	0.184000	0.23200	0.000000	0.03702	0.019000	0.09904	1.022000	0.30052	0.244000	0.21351	0.655000	0.94253	AGA		PASS	0.453	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			29	58	29	58	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68274248	68274248	+	Silent	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr14:68274248C>G	ENST00000347230.4	-	5	891	c.753G>C	c.(751-753)ggG>ggC	p.G251G	ZFYVE26_ENST00000555452.1_Silent_p.G251G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	251					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.G251G(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAGGGGACTCCCCTCGGTCC	0.627																																						uc001xka.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)	11						c.(751-753)GGG>GGC		zinc finger, FYVE domain containing 26							35.0	37.0	36.0					14																	68274248		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274248C>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.753G>C	14.37:g.68274248C>G						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.G251G|ZFYVE26_uc010tta.1_Silent_p.G251G	p.G251G	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	892	-			251					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.753G>C	CCDS9788.1																																																																																				PASS	0.627	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		17	40	17	40	---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92563086	92563086	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr14:92563086C>G	ENST00000532032.1	-	2	130	c.121G>C	c.(121-123)Gat>Cat	p.D41H	ATXN3_ENST00000393287.5_Missense_Mutation_p.D41H|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000503767.1_Missense_Mutation_p.D41H|ATXN3_ENST00000545170.1_Missense_Mutation_p.D41H|ATXN3_ENST00000429774.2_Missense_Mutation_p.D41H			P54252	ATX3_HUMAN	ataxin 3	41	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				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.D41H(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TCCTCCTCATCCAGCTGATGT	0.403																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)GAT>CAT		ataxin 3 reference isoform							183.0	148.0	160.0					14																	92563086		2203	4300	6503	SO:0001583	missense	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.chr14:92563086C>G	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.121G>C	14.37:g.92563086C>G	ENSP00000437157:p.Asp41His					ATXN3_uc010aug.2_Missense_Mutation_p.D41H|ATXN3_uc001yad.3_Intron|ATXN3_uc010auh.2_Missense_Mutation_p.D41H|ATXN3_uc001yae.3_5'UTR|ATXN3_uc010twl.1_Intron	p.D41H	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	2	190	-		all_cancers(154;0.0768)	41			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37	c.121G>C		.	.	.	.	.	.	.	.	.	.	C	21.5	4.152098	0.78001	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000532032;ENST00000554592;ENST00000553491;ENST00000506466	T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.77	5.77	0.91146	.	0.043056	0.85682	D	0.000000	T	0.76579	0.4007	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.995	T	0.80659	-0.1284	10	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	41;41;41	P54252;E9PB63;P54252-2	ATX3_HUMAN;.;.	H	41;41;41;41;41;41;41;41;40;41;41;41;41;41;41	ENSP00000445618:D41H;ENSP00000389376:D41H;ENSP00000376965:D41H;ENSP00000426697:D41H;ENSP00000437157:D41H;ENSP00000451385:D41H;ENSP00000451996:D41H;ENSP00000435571:D41H	ENSP00000352324:D41H	D	-	1	0	ATXN3	91632839	1.000000	0.71417	0.833000	0.33012	0.444000	0.32077	7.598000	0.82745	2.747000	0.94245	0.549000	0.68633	GAT		PASS	0.403	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		9	119	9	119	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102499791	102499791	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr14:102499791C>T	ENST00000360184.4	+	54	10547	c.10383C>T	c.(10381-10383)atC>atT	p.I3461I	RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3461	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.I3461I(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCCAGGCCATCAAGGCAGACC	0.537																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10381-10383)ATC>ATT		cytoplasmic dynein 1 heavy chain 1							85.0	76.0	79.0					14																	102499791		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102499791C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10383C>T	14.37:g.102499791C>T							p.I3461I	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			54	10547	+			3461			Stalk (By similarity).|Potential.		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.10383C>T	CCDS9966.1																																																																																				PASS	0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		15	41	15	41	---	---	---	---
MARK3	4140	broad.mit.edu	37	14	103946810	103946810	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr14:103946810G>A	ENST00000429436.2	+	14	2079	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	MARK3_ENST00000303622.9_Silent_p.Q523Q|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000335102.5_Silent_p.Q546Q|MARK3_ENST00000216288.7_Silent_p.Q507Q|MARK3_ENST00000416682.2_Silent_p.Q546Q|MARK3_ENST00000553942.1_Silent_p.Q523Q|MARK3_ENST00000440884.3_Silent_p.Q444Q	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	523						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q507Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CAGTGATTCAGAATGGCAAAG	0.373																																						uc001ymz.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|stomach(1)	4						c.(1567-1569)CAG>CAA		MAP/microtubule affinity-regulating kinase 3							133.0	131.0	132.0					14																	103946810		1849	4103	5952	SO:0001819	synonymous_variant	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103946810G>A	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1569G>A	14.37:g.103946810G>A						MARK3_uc001ymx.3_Silent_p.Q523Q|MARK3_uc001ymw.3_Silent_p.Q523Q|MARK3_uc001yna.3_Silent_p.Q507Q|MARK3_uc001ymy.3_Silent_p.Q444Q|MARK3_uc010awp.2_Silent_p.Q546Q|MARK3_uc010tyb.1_Silent_p.Q318Q|MARK3_uc010awq.2_Silent_p.Q53Q	p.Q523Q	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Epithelial(46;0.241)		14	2235	+		Melanoma(154;0.155)	523					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Silent	SNP	ENST00000429436.2	37	c.1569G>A	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922977	0.18056	.	.	ENSG00000075413	ENST00000554627	.	.	.	5.81	2.97	0.34412	.	.	.	.	.	T	0.54695	0.1874	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50988	-0.8762	4	.	.	.	.	6.2539	0.20864	0.1546:0.0:0.6705:0.1749	.	.	.	.	K	275	.	.	R	+	2	0	MARK3	103016563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.954000	0.29175	1.474000	0.48178	0.644000	0.83932	AGA		PASS	0.373	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		44	103	44	103	---	---	---	---
INO80	54617	broad.mit.edu	37	15	41388466	41388466	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr15:41388466C>T	ENST00000361937.3	-	2	467	c.43G>A	c.(43-45)Gag>Aag	p.E15K	INO80_ENST00000401393.3_Missense_Mutation_p.E15K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	15	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E15K(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTGCCAGCTCAGTGCAGCCT	0.517																																						uc001zni.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(43-45)GAG>AAG		INO80 complex homolog 1							57.0	52.0	54.0					15																	41388466		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41388466C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.43G>A	15.37:g.41388466C>T	ENSP00000355205:p.Glu15Lys					INO80_uc010ucu.1_RNA	p.E15K	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			2	256	-			15			Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.43G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838431	0.51057	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90788	-2.73;-2.73	5.9	5.9	0.94986	.	0.269501	0.39615	N	0.001305	T	0.81837	0.4907	N	0.08118	0	0.37355	D	0.910981	B	0.09022	0.002	B	0.08055	0.003	T	0.77008	-0.2747	10	0.12103	T	0.63	.	20.2723	0.98479	0.0:1.0:0.0:0.0	.	15	Q9ULG1	INO80_HUMAN	K	15	ENSP00000355205:E15K;ENSP00000384686:E15K	ENSP00000355205:E15K	E	-	1	0	INO80	39175758	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.109000	0.50345	2.793000	0.96121	0.563000	0.77884	GAG		PASS	0.517	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		4	26	4	26	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44900797	44900797	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr15:44900797G>C	ENST00000261866.7	-	19	3314	c.3298C>G	c.(3298-3300)Cag>Gag	p.Q1100E	SPG11_ENST00000535302.2_Missense_Mutation_p.Q1100E|SPG11_ENST00000558319.1_Missense_Mutation_p.Q1100E|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1100E	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1100					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.Q1100E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTTCATTCTGAACAACCTAA	0.363																																						uc001ztx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3298-3300)CAG>GAG		spatacsin isoform 1							72.0	67.0	69.0					15																	44900797		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44900797G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3298C>G	15.37:g.44900797G>C	ENSP00000261866:p.Gln1100Glu					SPG11_uc010ueh.1_Missense_Mutation_p.Q1100E|SPG11_uc010uei.1_Missense_Mutation_p.Q1100E	p.Q1100E	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	19	3329	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1100			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.3298C>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268315	0.59540	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.35048	1.33;1.33;1.33	5.88	5.88	0.94601	.	0.150533	0.45361	D	0.000365	T	0.50171	0.1600	M	0.70595	2.14	0.80722	D	1	P;B;P	0.50943	0.94;0.291;0.94	P;B;P	0.50659	0.546;0.13;0.647	T	0.34354	-0.9832	10	0.18276	T	0.48	.	19.8391	0.96675	0.0:0.0:1.0:0.0	.	1100;1100;1100	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	E	1100	ENSP00000261866:Q1100E;ENSP00000445278:Q1100E;ENSP00000396110:Q1100E	ENSP00000261866:Q1100E	Q	-	1	0	SPG11	42688089	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.762000	0.55250	2.774000	0.95407	0.655000	0.94253	CAG		PASS	0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			9	30	9	30	---	---	---	---
SLC27A2	11001	broad.mit.edu	37	15	50515285	50515285	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr15:50515285G>A	ENST00000267842.5	+	5	1328	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	Y_RNA_ENST00000363735.1_RNA|SLC27A2_ENST00000380902.4_Missense_Mutation_p.E313K|SLC27A2_ENST00000544960.1_Missense_Mutation_p.E131K	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	366					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.E366K(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGCTGCCACTGAAGGCAATAT	0.408																																						uc001zxw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1096-1098)GAA>AAA		solute carrier family 27 (fatty acid							155.0	141.0	145.0					15																	50515285		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50515285G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1096G>A	15.37:g.50515285G>A	ENSP00000267842:p.Glu366Lys					SLC27A2_uc010bes.2_Missense_Mutation_p.E313K|SLC27A2_uc001zxx.2_Missense_Mutation_p.E131K	p.E366K	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	5	1328	+		all_lung(180;0.00177)	366			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1096G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577803	0.96565	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;D;D	0.81499	-1.47;-1.5;-1.5	5.93	5.93	0.95920	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95608	0.8669	10	0.87932	D	0	.	17.8477	0.88736	0.0:0.0:1.0:0.0	.	313;366	Q6PF09;O14975	.;S27A2_HUMAN	K	313;366;131	ENSP00000370289:E313K;ENSP00000267842:E366K;ENSP00000444549:E131K	ENSP00000267842:E366K	E	+	1	0	SLC27A2	48302577	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.227000	0.95236	2.826000	0.97356	0.655000	0.94253	GAA		PASS	0.408	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		8	86	8	86	---	---	---	---
REC114	283677	broad.mit.edu	37	15	73852096	73852096	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr15:73852096C>G	ENST00000331090.6	+	6	668	c.640C>G	c.(640-642)Ctt>Gtt	p.L214V	C15orf60_ENST00000560581.1_Missense_Mutation_p.L186V	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		214					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.L214V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						CCTGCAGACTCTTCTGGCATC	0.453																																						uc002avq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(640-642)CTT>GTT		hypothetical protein LOC283677							73.0	71.0	72.0					15																	73852096		1838	4087	5925	SO:0001583	missense	283677							g.chr15:73852096C>G																												ENST00000331090.6:c.640C>G	15.37:g.73852096C>G	ENSP00000328423:p.Leu214Val					C15orf60_uc010bjb.2_Missense_Mutation_p.L186V	p.L214V	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN			6	668	+			214						Missense_Mutation	SNP	ENST00000331090.6	37	c.640C>G	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.107031	0.01813	.	.	ENSG00000183324	ENST00000331090	T	0.54866	0.55	5.87	-7.52	0.01341	.	0.664608	0.14666	N	0.305669	T	0.22859	0.0552	N	0.10733	0.035	0.09310	N	0.999999	B	0.09022	0.002	B	0.12156	0.007	T	0.30149	-0.9988	10	0.16420	T	0.52	-9.6922	10.6383	0.45577	0.4933:0.3568:0.1498:0.0	.	214	Q7Z4M0	CO060_HUMAN	V	214	ENSP00000328423:L214V	ENSP00000328423:L214V	L	+	1	0	C15orf60	71639149	0.831000	0.29352	0.123000	0.21794	0.064000	0.16182	-0.257000	0.08745	-0.886000	0.03966	-0.175000	0.13238	CTT		PASS	0.453	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			9	80	9	80	---	---	---	---
TBC1D21	161514	broad.mit.edu	37	15	74173766	74173766	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr15:74173766G>C	ENST00000300504.2	+	2	170	c.87G>C	c.(85-87)aaG>aaC	p.K29N	TBC1D21_ENST00000535547.2_Intron|TBC1D21_ENST00000562056.1_Missense_Mutation_p.K29N	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	29						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.K29N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCATTGACAAGACAGAATGGG	0.453																																						uc002avz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(85-87)AAG>AAC		TBC1 domain family, member 21							113.0	102.0	106.0					15																	74173766		2198	4297	6495	SO:0001583	missense	161514					intracellular	Rab GTPase activator activity	g.chr15:74173766G>C	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.87G>C	15.37:g.74173766G>C	ENSP00000300504:p.Lys29Asn					TBC1D21_uc010ulc.1_Intron	p.K29N	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN			2	170	+			29					B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	c.87G>C	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	G	7.837	0.721184	0.15372	.	.	ENSG00000167139	ENST00000300504	T	0.14766	2.48	5.02	5.02	0.67125	.	0.242461	0.29486	N	0.012011	T	0.08582	0.0213	N	0.14661	0.345	0.37542	D	0.918365	B	0.06786	0.001	B	0.04013	0.001	T	0.28299	-1.0048	10	0.19147	T	0.46	-12.8642	13.7072	0.62646	0.0:0.0:1.0:0.0	.	29	Q8IYX1	TBC21_HUMAN	N	29	ENSP00000300504:K29N	ENSP00000300504:K29N	K	+	3	2	TBC1D21	71960819	1.000000	0.71417	0.998000	0.56505	0.442000	0.32017	2.306000	0.43673	2.600000	0.87896	0.655000	0.94253	AAG		PASS	0.453	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		15	105	15	105	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78474488	78474488	+	Splice_Site	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr15:78474488C>G	ENST00000258873.4	-	8	1100		c.e8-1		ACSBG1_ENST00000541759.1_Splice_Site|ACSBG1_ENST00000560817.1_Splice_Site	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1						long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCCACGTGATCTGGAGGACAA	0.652																																						uc002bdh.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e8-1		lipidosin							30.0	31.0	30.0					15																	78474488		2196	4293	6489	SO:0001630	splice_region_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474488C>G	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.895-1G>C	15.37:g.78474488C>G						ACSBG1_uc010umw.1_Splice_Site_p.I295_splice|ACSBG1_uc010umx.1_Splice_Site_p.I57_splice|ACSBG1_uc010umy.1_Splice_Site_p.I192_splice	p.I299_splice	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			8	951	-								B2RB61|O75126|Q76N27|Q9HC26	Splice_Site	SNP	ENST00000258873.4	37	c.895_splice	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966086	0.34659	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	.	.	.	4.75	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0441	0.53469	0.0:0.9163:0.0:0.0837	.	.	.	.	.	-1	.	.	.	-	.	.	ACSBG1	76261543	1.000000	0.71417	0.923000	0.36655	0.332000	0.28634	7.647000	0.83462	1.021000	0.39600	0.650000	0.86243	.		PASS	0.652	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	Intron	5	36	5	36	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93547926	93547926	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr15:93547926C>G	ENST00000394196.4	+	34	5426	c.4358C>G	c.(4357-4359)cCt>cGt	p.P1453R	CHD2_ENST00000557381.1_Missense_Mutation_p.P1453R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1453					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.P1453R(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGAAGTGAACCTGTCCCCATT	0.473																																						uc002bsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(4357-4359)CCT>CGT		chromodomain helicase DNA binding protein 2							167.0	153.0	158.0					15																	93547926		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93547926C>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4358C>G	15.37:g.93547926C>G	ENSP00000377747:p.Pro1453Arg					CHD2_uc002bso.1_Missense_Mutation_p.P1453R	p.P1453R	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		34	4933	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1453					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.4358C>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822150	0.90873	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.90563	-2.68;-2.69	5.34	5.34	0.76211	.	0.000000	0.34046	U	0.004311	D	0.94440	0.8211	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.94189	0.7439	10	0.51188	T	0.08	-12.9611	19.0366	0.92982	0.0:1.0:0.0:0.0	.	1453;1453	O14647;O14647-2	CHD2_HUMAN;.	R	1453	ENSP00000377747:P1453R;ENSP00000451366:P1453R	ENSP00000377747:P1453R	P	+	2	0	CHD2	91348930	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.456000	0.80751	2.487000	0.83934	0.655000	0.94253	CCT		PASS	0.473	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	155	4	155	---	---	---	---
TIGD7	91151	broad.mit.edu	37	16	3349552	3349552	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr16:3349552C>G	ENST00000396862.1	-	2	2891	c.1063G>C	c.(1063-1065)Gaa>Caa	p.E355Q	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.E355Q	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	355	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E355Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCACTTTCTTCAAATATTACA	0.348																																						uc002cus.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1063-1065)GAA>CAA		tigger transposable element derived 7							58.0	62.0	60.0					16																	3349552		2197	4299	6496	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3349552C>G	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1063G>C	16.37:g.3349552C>G	ENSP00000380071:p.Glu355Gln					ZNF263_uc002cur.2_3'UTR	p.E355Q	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN			1	1849	-			355			DDE.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.1063G>C	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025707	0.19512	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.46451	0.87;0.87	4.85	4.85	0.62838	.	0.181621	0.26010	U	0.026881	T	0.42607	0.1210	L	0.34521	1.04	0.25984	N	0.98234	D	0.53151	0.958	P	0.51135	0.66	T	0.32824	-0.9892	10	0.49607	T	0.09	.	13.471	0.61281	0.0:1.0:0.0:0.0	.	355	Q6NT04	TIGD7_HUMAN	Q	355	ENSP00000380071:E355Q;ENSP00000268674:E355Q	ENSP00000268674:E355Q	E	-	1	0	TIGD7	3289553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.410000	0.34691	2.249000	0.74217	0.655000	0.94253	GAA		PASS	0.348	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		11	79	11	79	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15853504	15853504	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr16:15853504G>A	ENST00000300036.5	-	12	1439	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	MYH11_ENST00000396324.3_Silent_p.L451L|MYH11_ENST00000576790.2_Silent_p.L444L|MYH11_ENST00000452625.2_Silent_p.L451L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	444	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.L444L(1)|p.L451L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTCTTGTCCAGGGCTTTGTTC	0.552			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(1330-1332)CTG>TTG		smooth muscle myosin heavy chain 11 isoform							126.0	113.0	117.0					16																	15853504		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15853504G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1330C>T	16.37:g.15853504G>A						MYH11_uc002ddv.2_Silent_p.L451L|MYH11_uc002ddw.2_Silent_p.L444L|MYH11_uc002ddx.2_Silent_p.L451L|MYH11_uc010bvg.2_Silent_p.L276L|MYH11_uc002dea.1_Silent_p.L150L	p.L444L	NM_002474	NP_002465	P35749	MYH11_HUMAN			12	1437	-			444			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.1330C>T	CCDS10565.1																																																																																				PASS	0.552	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		24	111	24	111	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19603129	19603129	+	Silent	SNP	A	A	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr16:19603129A>G	ENST00000251143.5	+	8	669	c.657A>G	c.(655-657)tcA>tcG	p.S219S	C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000542263.1_Silent_p.S308S|C16orf62_ENST00000438132.3_Silent_p.S308S|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000448695.1_Intron|C16orf62_ENST00000417362.2_Silent_p.S219S			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	219						integral component of membrane (GO:0016021)		p.S219S(1)|p.S308S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGCTTCTTTCAGACACCAGTG	0.368																																						uc002dgn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(655-657)TCA>TCG		hypothetical protein LOC57020							141.0	131.0	135.0					16																	19603129		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19603129A>G		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.657A>G	16.37:g.19603129A>G						C16orf62_uc002dgo.1_Silent_p.S219S|C16orf62_uc002dgp.1_Intron|C16orf62_uc010vas.1_Silent_p.S93S|C16orf62_uc002dgm.1_Silent_p.S219S	p.S219S	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			8	669	+			219					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.657A>G																																																																																					PASS	0.368	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		13	98	13	98	---	---	---	---
NFATC2IP	84901	broad.mit.edu	37	16	28967599	28967599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr16:28967599C>T	ENST00000320805.4	+	5	862	c.787C>T	c.(787-789)Cga>Tga	p.R263*	RP11-264B17.2_ENST00000568057.1_RNA|MIR4517_ENST00000578855.1_RNA|NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000568148.1_5'Flank|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	263					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R263*(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AGAGACCCCCCGACTCTTCCC	0.622																																						uc002dru.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(787-789)CGA>TGA		nuclear factor of activated T-cells,							50.0	47.0	48.0					16																	28967599		2197	4300	6497	SO:0001587	stop_gained	84901					cytoplasm|nucleus		g.chr16:28967599C>T	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.787C>T	16.37:g.28967599C>T	ENSP00000324792:p.Arg263*					uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron|NFATC2IP_uc002drv.2_5'UTR|NFATC2IP_uc010vdh.1_5'Flank	p.R263*	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			5	802	+			263					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Nonsense_Mutation	SNP	ENST00000320805.4	37	c.787C>T	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549552	0.86127	.	.	ENSG00000176953	ENST00000320805	.	.	.	5.49	3.47	0.39725	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0471	10.9236	0.47180	0.3417:0.6583:0.0:0.0	.	.	.	.	X	263	.	ENSP00000324792:R263X	R	+	1	2	NFATC2IP	28875100	0.474000	0.25886	0.004000	0.12327	0.780000	0.44128	1.357000	0.34090	0.619000	0.30197	0.655000	0.94253	CGA		PASS	0.622	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		5	42	5	42	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50346817	50346817	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr16:50346817C>T	ENST00000394697.2	+	22	2961	c.2621C>T	c.(2620-2622)tCc>tTc	p.S874F	ADCY7_ENST00000254235.3_Missense_Mutation_p.S874F			P51828	ADCY7_HUMAN	adenylate cyclase 7	874					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.S874F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TACCATCAGTCCTATGACTGC	0.547																																						uc002egd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2620-2622)TCC>TTC		adenylate cyclase 7	Bromocriptine(DB01200)						265.0	203.0	224.0					16																	50346817		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50346817C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2621C>T	16.37:g.50346817C>T	ENSP00000378187:p.Ser874Phe						p.S874F	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	21	2889	+		all_cancers(37;0.0127)	874			Cytoplasmic (Potential).		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.2621C>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958646	0.92726	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.32753	1.44;1.44	5.47	5.47	0.80525	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.43919	U	0.000510	T	0.63803	0.2542	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70193	-0.4939	10	0.87932	D	0	.	19.3455	0.94361	0.0:1.0:0.0:0.0	.	874	P51828	ADCY7_HUMAN	F	874	ENSP00000378187:S874F;ENSP00000254235:S874F	ENSP00000254235:S874F	S	+	2	0	ADCY7	48904318	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.814000	0.86154	2.551000	0.86045	0.561000	0.74099	TCC		PASS	0.547	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			12	80	12	80	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4883886	4883886	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr17:4883886C>T	ENST00000348066.3	-	9	854	c.731G>A	c.(730-732)aGc>aAc	p.S244N	CAMTA2_ENST00000358183.4_Missense_Mutation_p.S244N|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S249N|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S246N|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S267N|CAMTA2_ENST00000361571.5_Missense_Mutation_p.S243N	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	244					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.S244N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTGTTTCGTGCTGCTGCATTT	0.572											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gah.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(730-732)AGC>AAC		calmodulin binding transcription activator 2							92.0	102.0	99.0					17																	4883886		2086	4219	6305	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883886C>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.731G>A	17.37:g.4883886C>T	ENSP00000321813:p.Ser244Asn		OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_uc010cku.1_Missense_Mutation_p.S267N|CAMTA2_uc002gag.1_Missense_Mutation_p.S243N|CAMTA2_uc002gai.1_Missense_Mutation_p.S246N|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.1_Missense_Mutation_p.S57N	p.S244N	NM_015099	NP_055914	O94983	CMTA2_HUMAN			9	839	-			244					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.731G>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093804	0.36952	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.37411	2.47;1.49;1.2;1.49;1.27	4.61	3.56	0.40772	.	0.183938	0.47455	D	0.000237	T	0.36552	0.0971	N	0.12182	0.205	0.30161	N	0.802191	B;B;B;D	0.62365	0.004;0.004;0.002;0.991	B;B;B;D	0.75484	0.016;0.024;0.004;0.986	T	0.13308	-1.0514	10	0.39692	T	0.17	-13.2117	9.4861	0.38931	0.0:0.8868:0.0:0.1132	.	267;246;244;243	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	N	267;246;243;244;244	ENSP00000412886:S267N;ENSP00000370712:S246N;ENSP00000354828:S243N;ENSP00000350910:S244N;ENSP00000321813:S244N	ENSP00000321813:S244N	S	-	2	0	CAMTA2	4824610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.620000	0.54203	2.388000	0.81334	0.650000	0.86243	AGC		PASS	0.572	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		25	101	25	101	---	---	---	---
C17orf74	201243	broad.mit.edu	37	17	7330607	7330607	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr17:7330607G>A	ENST00000333870.3	+	3	1371	c.1297G>A	c.(1297-1299)Gtc>Atc	p.V433I	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	433						integral component of membrane (GO:0016021)		p.V433I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGGCCCAAAGTCCAGGCTGC	0.642																																						uc002ggw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)GTC>ATC		hypothetical protein LOC201243							57.0	65.0	63.0					17																	7330607		2035	4174	6209	SO:0001583	missense	201243					integral to membrane		g.chr17:7330607G>A	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1297G>A	17.37:g.7330607G>A	ENSP00000328061:p.Val433Ile					FGF11_uc010vtw.1_Intron	p.V433I	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	1370	+		Prostate(122;0.157)	433						Missense_Mutation	SNP	ENST00000333870.3	37	c.1297G>A	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	0.174	-1.068946	0.01918	.	.	ENSG00000184560	ENST00000333870	T	0.36157	1.27	5.11	4.12	0.48240	.	0.912586	0.08876	N	0.880768	T	0.29817	0.0745	L	0.27053	0.805	0.23198	N	0.998133	B	0.32829	0.386	B	0.34242	0.178	T	0.22487	-1.0215	10	0.38643	T	0.18	-8.5784	12.0259	0.53371	0.0:0.1739:0.8261:0.0	.	433	Q0P670	CQ074_HUMAN	I	433	ENSP00000328061:V433I	ENSP00000328061:V433I	V	+	1	0	C17orf74	7271331	0.025000	0.19082	0.005000	0.12908	0.082000	0.17680	2.115000	0.41921	1.249000	0.43950	0.491000	0.48974	GTC		PASS	0.642	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		6	40	6	40	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576928	7576928	+	Splice_Site	SNP	T	T	A	rs397516439		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr17:7576928T>A	ENST00000269305.4	-	9	1109		c.e9-2		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TGGGCAGTGCTAGGAAAGAGG	0.493		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		38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	p.?(14)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(1)	lung(11)|upper_aerodigestive_tract(6)|breast(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(2)|large_intestine(1)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(1)|ovary(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.e9-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							137.0	124.0	129.0					17																	7576928		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7576928T>A	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.920-2A>T	17.37:g.7576928T>A		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_Intron|TP53_uc002gih.2_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice	p.A307_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1114	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.920_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.608	0.888452	0.17540	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.71	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.665	0.28426	0.187:0.0:0.0:0.813	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517653	0.089000	0.21612	0.933000	0.37362	0.236000	0.25371	0.838000	0.27572	1.993000	0.58246	0.459000	0.35465	.		PASS	0.493	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	17	48	17	48	---	---	---	---
ELAC2	60528	broad.mit.edu	37	17	12908318	12908318	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr17:12908318G>A	ENST00000338034.4	-	11	1210	c.971C>T	c.(970-972)gCc>gTc	p.A324V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A305V|ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000426905.3_Missense_Mutation_p.A284V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	324					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A324V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CTGAAAGGTGGCATTCTCACA	0.502																																						uc002gnz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)GCC>GTC		elaC homolog 2 isoform 1							206.0	196.0	199.0					17																	12908318		2203	4300	6503	SO:0001583	missense	60528	Hereditary_Prostate_Cancer			tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12908318G>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.971C>T	17.37:g.12908318G>A	ENSP00000337445:p.Ala324Val					ELAC2_uc002gnv.3_5'Flank|ELAC2_uc002gnw.3_5'UTR|ELAC2_uc002gnx.3_Missense_Mutation_p.A84V|ELAC2_uc010vvo.1_Missense_Mutation_p.A147V|ELAC2_uc010vvp.1_Missense_Mutation_p.A305V|ELAC2_uc010vvq.1_Missense_Mutation_p.A324V|ELAC2_uc010vvr.1_Missense_Mutation_p.A284V	p.A324V	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN			11	1066	-			324					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.971C>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404016	0.25291	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.64803	0.29;-0.12;-0.12	4.9	-0.25	0.13007	.	0.856624	0.10760	N	0.637339	T	0.48077	0.1480	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B	0.28233	0.126;0.173;0.2;0.173;0.204;0.164	B;B;B;B;B;B	0.26770	0.033;0.041;0.073;0.067;0.033;0.033	T	0.38373	-0.9664	10	0.37606	T	0.19	-1.7292	2.4734	0.04570	0.0961:0.1579:0.3478:0.3983	.	284;307;305;147;324;84	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9	.;.;.;.;RNZ2_HUMAN;.	V	284;324;305;34	ENSP00000405223:A284V;ENSP00000337445:A324V;ENSP00000379291:A305V	ENSP00000337445:A324V	A	-	2	0	ELAC2	12849043	0.710000	0.27896	0.000000	0.03702	0.993000	0.82548	1.918000	0.40006	0.206000	0.20587	-0.136000	0.14681	GCC		PASS	0.502	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			42	148	42	148	---	---	---	---
TEKT3	64518	broad.mit.edu	37	17	15234856	15234856	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr17:15234856C>T	ENST00000395930.1	-	3	233	c.47G>A	c.(46-48)aGa>aAa	p.R16K	TEKT3_ENST00000338696.2_Missense_Mutation_p.R16K	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	16					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R16K(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGGTGTTGGTCTAGGGTGGGC	0.438																																						uc002gon.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(46-48)AGA>AAA		tektin 3							95.0	89.0	91.0					17																	15234856		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234856C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.47G>A	17.37:g.15234856C>T	ENSP00000379263:p.Arg16Lys						p.R16K	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	234	-			16					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.47G>A	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	4.373	0.068774	0.08436	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316;ENST00000543896	T;T;T;T;T	0.42900	4.18;4.18;1.59;1.59;0.96	5.36	-4.74	0.03249	.	0.598770	0.18424	N	0.141657	T	0.20780	0.0500	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42032	-0.9475	10	0.02654	T	1	-20.9389	7.7616	0.28955	0.0:0.452:0.1168:0.4312	.	16	Q9BXF9	TEKT3_HUMAN	K	16	ENSP00000379263:R16K;ENSP00000343995:R16K;ENSP00000446111:R16K;ENSP00000439713:R16K;ENSP00000444180:R16K	ENSP00000343995:R16K	R	-	2	0	TEKT3	15175581	0.020000	0.18652	0.001000	0.08648	0.207000	0.24258	0.449000	0.21744	-0.638000	0.05509	0.650000	0.86243	AGA		PASS	0.438	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		11	67	11	67	---	---	---	---
PIGS	94005	broad.mit.edu	37	17	26890464	26890464	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr17:26890464G>A	ENST00000308360.7	-	5	828	c.453C>T	c.(451-453)tcC>tcT	p.S151S	PIGS_ENST00000395346.2_Silent_p.S143S|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Silent_p.S90S	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	151					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.S151S(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GAAGAAGTGAGGAGTGTTCAG	0.537																																						uc002hbo.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|urinary_tract(1)|kidney(1)	4						c.(451-453)TCC>TCT		phosphatidylinositol glycan anchor biosynthesis,							154.0	125.0	135.0					17																	26890464		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26890464G>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.453C>T	17.37:g.26890464G>A						PIGS_uc002hbn.2_Silent_p.S143S|PIGS_uc010wap.1_Silent_p.S90S	p.S151S	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			5	826	-	Lung NSC(42;0.00431)		151			Lumenal (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.453C>T	CCDS11235.1																																																																																				PASS	0.537	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		9	67	9	67	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40936150	40936150	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr17:40936150C>T	ENST00000246914.5	+	3	1008	c.987C>T	c.(985-987)cgC>cgT	p.R329R		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	329	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.R329R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CGCTCAAGCGCGCCTCCTTTG	0.602																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|stomach(1)	7						c.(985-987)CGC>CGT		WNK lysine deficient protein kinase 4							129.0	127.0	127.0					17																	40936150		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40936150C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.987C>T	17.37:g.40936150C>T						WNK4_uc010wgx.1_Missense_Mutation_p.A23V|WNK4_uc002ibk.1_Silent_p.R101R|WNK4_uc010wgy.1_5'Flank	p.R329R	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	3	1008	+		Breast(137;0.000143)	329			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.987C>T	CCDS11439.1																																																																																				PASS	0.602	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			20	113	20	113	---	---	---	---
TBX2	6909	broad.mit.edu	37	17	59483116	59483116	+	Silent	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr17:59483116C>A	ENST00000240328.3	+	6	1886	c.1605C>A	c.(1603-1605)ggC>ggA	p.G535G	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	535	Gly-rich.|Repression domain 1 (RD1).				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G525G(1)		endometrium(1)|lung(7)|ovary(1)	9						TGGACGCAGGCGGGCTGGGTC	0.736																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1603-1605)GGC>GGA		T-box 2							3.0	3.0	3.0					17																	59483116		1807	3539	5346	SO:0001819	synonymous_variant	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59483116C>A	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1605C>A	17.37:g.59483116C>A						TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Silent_p.G381G	p.G535G	NM_005994	NP_005985	Q13207	TBX2_HUMAN			6	1886	+			535			Gly-rich.		Q16424|Q7Z647	Silent	SNP	ENST00000240328.3	37	c.1605C>A	CCDS11627.2																																																																																				PASS	0.736	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		2	1	2	1	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60837244	60837244	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr17:60837244T>C	ENST00000311269.5	-	4	608	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	MARCH10_ENST00000544856.2_Missense_Mutation_p.M112V|MARCH10_ENST00000456609.2_Missense_Mutation_p.M112V|MARCH10_ENST00000583600.1_Missense_Mutation_p.M112V	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	112					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.M112V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTTACAGTCATGGTACTTTTA	0.413																																						uc010ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(334-336)ATG>GTG		ring finger protein 190							260.0	202.0	222.0					17																	60837244		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60837244T>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.334A>G	17.37:g.60837244T>C	ENSP00000311496:p.Met112Val					MARCH10_uc002jag.3_Missense_Mutation_p.M112V|MARCH10_uc010dds.2_Missense_Mutation_p.M112V|MARCH10_uc002jah.2_Missense_Mutation_p.M112V	p.M112V	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			4	572	-			112					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.334A>G	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	T	6.726	0.502636	0.12822	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.20738	2.05;2.05;2.05	5.91	5.91	0.95273	.	0.000000	0.53938	D	0.000057	T	0.25568	0.0622	M	0.66939	2.045	0.32786	N	0.501849	B;B;B	0.33171	0.278;0.4;0.278	B;B;B	0.30855	0.057;0.121;0.057	T	0.41538	-0.9503	10	0.66056	D	0.02	-8.735	13.8685	0.63603	0.0:0.0:0.0:1.0	.	112;112;112	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	V	112	ENSP00000416177:M112V;ENSP00000311496:M112V;ENSP00000443746:M112V	ENSP00000311496:M112V	M	-	1	0	MARCH10	58190976	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	2.693000	0.47027	2.261000	0.74972	0.533000	0.62120	ATG		PASS	0.413	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		23	97	23	97	---	---	---	---
RIOK3	8780	broad.mit.edu	37	18	21059301	21059301	+	Silent	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr18:21059301C>G	ENST00000339486.3	+	12	1982	c.1365C>G	c.(1363-1365)gtC>gtG	p.V455V	RIOK3_ENST00000581585.1_Silent_p.V439V|RIOK3_ENST00000577501.1_Silent_p.V452V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	455	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V455V(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGGAGGAGTCAAGGAAGCCC	0.368																																						uc002kui.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1363-1365)GTC>GTG		sudD suppressor of bimD6 homolog							103.0	94.0	97.0					18																	21059301		2203	4300	6503	SO:0001819	synonymous_variant	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21059301C>G	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1365C>G	18.37:g.21059301C>G						RIOK3_uc010dls.2_Silent_p.V452V|RIOK3_uc010xas.1_Silent_p.V439V|RIOK3_uc010xat.1_Silent_p.V199V	p.V455V	NM_003831	NP_003822	O14730	RIOK3_HUMAN			12	1982	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		455			Protein kinase.		Q8IXN9	Silent	SNP	ENST00000339486.3	37	c.1365C>G	CCDS11877.1																																																																																				PASS	0.368	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		8	44	8	44	---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43204692	43204692	+	Silent	SNP	C	C	T	rs141644181	byFrequency	TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr18:43204692C>T	ENST00000255226.6	+	2	879	c.63C>T	c.(61-63)taC>taT	p.Y21Y	SLC14A2_ENST00000586448.1_Silent_p.Y21Y	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	21					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.Y21Y(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAACTCTACGAGGCAGAGT	0.562													C|||	9	0.00179712	0.0061	0.0014	5008	,	,		17214	0.0		0.0	False		,,,				2504	0.0					uc010dnj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(61-63)TAC>TAT		solute carrier family 14 (urea transporter),		C	,	25,4381	32.6+/-62.9	0,25,2178	75.0	70.0	72.0		63,63	-7.2	0.6	18	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC14A2	NM_001242692.1,NM_007163.3	,	0,25,6478	TT,TC,CC		0.0,0.5674,0.1922	,	21/921,21/921	43204692	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43204692C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.63C>T	18.37:g.43204692C>T						SLC14A2_uc002lbb.2_Silent_p.Y21Y|SLC14A2_uc002lbe.2_Silent_p.Y21Y	p.Y21Y	NM_007163	NP_009094	Q15849	UT2_HUMAN			3	384	+			21					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.63C>T	CCDS11924.1																																																																																				PASS	0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			6	84	6	84	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50923735	50923735	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr18:50923735T>C	ENST00000442544.2	+	18	3362	c.2746T>C	c.(2746-2748)Tat>Cat	p.Y916H	DCC_ENST00000412726.1_Missense_Mutation_p.Y744H|DCC_ENST00000581580.1_Missense_Mutation_p.Y551H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	916	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.Y916H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAACACAATGTATGAATTCTC	0.393																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(2746-2748)TAT>CAT		netrin receptor DCC precursor							119.0	105.0	110.0					18																	50923735		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50923735T>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2746T>C	18.37:g.50923735T>C	ENSP00000389140:p.Tyr916His					DCC_uc010xdr.1_Missense_Mutation_p.Y744H|DCC_uc010dpf.1_Missense_Mutation_p.Y551H	p.Y916H	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	18	3333	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	916			Extracellular (Potential).|Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2746T>C	CCDS11952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.95|14.95	2.689289|2.689289	0.48097|0.48097	.|.	.|.	ENSG00000187323|ENSG00000187323	ENST00000304775|ENST00000442544;ENST00000412726	.|D;D	.|0.89343	.|-2.5;-2.5	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.95557|0.95557	0.8556|0.8556	M|M	0.91406|0.91406	3.205|3.205	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.96390|0.96390	0.9288|0.9288	6|10	0.62326|0.87932	D|D	0.03|0	.|.	15.1301|15.1301	0.72517|0.72517	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|744;744;916	.|E7EQM8;B4DYX2;P43146	.|.;.;DCC_HUMAN	A|H	771|916;744	.|ENSP00000389140:Y916H;ENSP00000397322:Y744H	ENSP00000304146:V771A|ENSP00000397322:Y744H	V|Y	+|+	2|1	0|0	DCC|DCC	49177733|49177733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.941000|7.941000	0.87700|0.87700	2.213000|2.213000	0.71641|0.71641	0.528000|0.528000	0.53228|0.53228	GTA|TAT		PASS	0.393	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		14	67	14	67	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64235805	64235805	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr18:64235805T>A	ENST00000540086.1	-	3	584	c.338A>T	c.(337-339)tAc>tTc	p.Y113F	CDH19_ENST00000262150.2_Missense_Mutation_p.Y113F	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	221	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y113F(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTTAAGATGTAGAGGGATCG	0.433																																						uc002lkc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(337-339)TAC>TTC		cadherin 19, type 2 preproprotein							140.0	135.0	137.0					18																	64235805		2203	4299	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235805T>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.338A>T	18.37:g.64235805T>A	ENSP00000439593:p.Tyr113Phe					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.Y113F|CDH19_uc002lkd.2_Missense_Mutation_p.Y113F	p.Y113F	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			3	476	-		Esophageal squamous(42;0.0132)	113			Cadherin 1.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.338A>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000864	0.54254	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.68624	-0.34;-0.34	5.87	5.87	0.94306	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81250	0.4783	M	0.74546	2.27	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.82190	-0.0580	10	0.51188	T	0.08	.	15.4585	0.75336	0.0:0.0:0.0:1.0	.	113;113	F5H1K0;Q9H159	.;CAD19_HUMAN	F	113;113;58	ENSP00000262150:Y113F;ENSP00000439593:Y113F	ENSP00000262150:Y113F	Y	-	2	0	CDH19	62386785	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.585000	0.82584	2.247000	0.74100	0.482000	0.46254	TAC		PASS	0.433	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		23	148	23	148	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67687945	67687945	+	Missense_Mutation	SNP	T	T	C	rs200829574		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr18:67687945T>C	ENST00000255674.6	-	45	6345	c.6059A>G	c.(6058-6060)cAg>cGg	p.Q2020R	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2020					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.Q2020R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGTGGCATCTGGGAAGCCAA	0.473																																						uc002lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(6058-6060)CAG>CGG		rotatin							143.0	138.0	139.0					18																	67687945		1949	4146	6095	SO:0001583	missense	25914						binding	g.chr18:67687945T>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6059A>G	18.37:g.67687945T>C	ENSP00000255674:p.Gln2020Arg					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.Q1108R|RTTN_uc002lkn.2_Missense_Mutation_p.Q10R|RTTN_uc010dqp.2_Missense_Mutation_p.Q272R	p.Q2020R	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			45	6127	-		Esophageal squamous(42;0.129)	2020					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6059A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054309	0.36277	.	.	ENSG00000176225	ENST00000255674	T	0.53640	0.61	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.490171	0.23577	N	0.046692	T	0.46054	0.1373	L	0.56769	1.78	0.80722	D	1	P	0.35272	0.493	B	0.31101	0.124	T	0.44205	-0.9343	10	0.46703	T	0.11	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	2020	Q86VV8	RTTN_HUMAN	R	2020	ENSP00000255674:Q2020R	ENSP00000255674:Q2020R	Q	-	2	0	RTTN	65838925	0.998000	0.40836	0.998000	0.56505	0.205000	0.24178	3.015000	0.49599	2.330000	0.79161	0.528000	0.53228	CAG		PASS	0.473	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		25	181	25	181	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67742704	67742704	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr18:67742704T>A	ENST00000255674.6	-	33	4734	c.4448A>T	c.(4447-4449)cAc>cTc	p.H1483L	RTTN_ENST00000437017.1_Missense_Mutation_p.H1483L|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1483					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.H1483L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAAATGGCAGTGATATAAAAG	0.408																																						uc002lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(4447-4449)CAC>CTC		rotatin							75.0	74.0	75.0					18																	67742704		1861	4082	5943	SO:0001583	missense	25914						binding	g.chr18:67742704T>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4448A>T	18.37:g.67742704T>A	ENSP00000255674:p.His1483Leu					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.H571L	p.H1483L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			33	4516	-		Esophageal squamous(42;0.129)	1483					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4448A>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337301	0.81911	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.70869	0.17;-0.52	5.52	5.52	0.82312	.	0.092947	0.64402	D	0.000001	D	0.82342	0.5016	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84234	0.0468	10	0.72032	D	0.01	.	14.2222	0.65836	0.0:0.0:0.0:1.0	.	1483	Q86VV8	RTTN_HUMAN	L	1483	ENSP00000255674:H1483L;ENSP00000399520:H1483L	ENSP00000255674:H1483L	H	-	2	0	RTTN	65893684	1.000000	0.71417	0.989000	0.46669	0.857000	0.48899	6.340000	0.72973	2.090000	0.63153	0.454000	0.30748	CAC		PASS	0.408	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		27	139	27	139	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10476232	10476232	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:10476232G>C	ENST00000525621.1	-	7	1453	c.972C>G	c.(970-972)atC>atG	p.I324M	TYK2_ENST00000524462.1_Missense_Mutation_p.I139M|TYK2_ENST00000529370.1_Missense_Mutation_p.I324M|TYK2_ENST00000264818.6_Missense_Mutation_p.I324M	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	324	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.I324M(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCCACCACTGGATGCCACCAG	0.652																																						uc002moc.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(970-972)ATC>ATG		tyrosine kinase 2							59.0	72.0	68.0					19																	10476232		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476232G>C		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.972C>G	19.37:g.10476232G>C	ENSP00000431885:p.Ile324Met					TYK2_uc010dxe.2_Missense_Mutation_p.I139M|TYK2_uc002mod.2_Missense_Mutation_p.I324M	p.I324M	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1350	-			324			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.972C>G	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.76|13.76	2.334657|2.334657	0.41297|0.41297	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370|ENST00000525220	D;T;T;D|.	0.86562|.	-1.52;-1.49;-1.49;-2.14|.	5.18|5.18	3.06|3.06	0.35304|0.35304	FERM domain (1);|.	0.107357|.	0.38436|.	N|.	0.001695|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.84082|0.84082	2.675|2.675	0.45733|0.45733	D|D	0.998637|0.998637	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.987;0.996|.	T|T	0.73550|0.73550	-0.3947|-0.3947	10|5	0.87932|.	D|.	0|.	-32.7386|-32.7386	10.8191|10.8191	0.46593|0.46593	0.1225:0.0:0.8775:0.0|0.1225:0.0:0.8775:0.0	.|.	324;324|.	E9PPF2;P29597|.	.;TYK2_HUMAN|.	M|C	139;324;324;71;324|103	ENSP00000433203:I139M;ENSP00000431885:I324M;ENSP00000264818:I324M;ENSP00000432728:I324M|.	ENSP00000264818:I324M|.	I|S	-|-	3|2	3|0	TYK2|TYK2	10337232|10337232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.236000|0.236000	0.25371|0.25371	0.512000|0.512000	0.22755|0.22755	0.585000|0.585000	0.29608|0.29608	0.561000|0.561000	0.74099|0.74099	ATC|TCC		PASS	0.652	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			16	97	16	97	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16861050	16861050	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:16861050C>A	ENST00000552788.1	+	4	1597	c.1597C>A	c.(1597-1599)Cca>Aca	p.P533T	NWD1_ENST00000339803.6_Missense_Mutation_p.P398T|NWD1_ENST00000549814.1_Missense_Mutation_p.P533T|NWD1_ENST00000379808.3_Missense_Mutation_p.P533T|NWD1_ENST00000524140.2_Missense_Mutation_p.P533T|NWD1_ENST00000523826.1_Missense_Mutation_p.P327T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	533	NACHT.						ATP binding (GO:0005524)	p.P533T(1)|p.P398T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGTGGGAACCCAGGGCGGCT	0.642																																						uc002neu.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(1597-1599)CCA>ACA		RecName: Full=NACHT and WD repeat domain-containing protein 1;							29.0	31.0	31.0					19																	16861050		2203	4298	6501	SO:0001583	missense	284434						ATP binding	g.chr19:16861050C>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1597C>A	19.37:g.16861050C>A	ENSP00000447224:p.Pro533Thr					NWD1_uc002net.3_Missense_Mutation_p.P398T|NWD1_uc002nev.3_Missense_Mutation_p.P327T	p.P533T			Q149M9	NWD1_HUMAN			6	2019	+			533			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1597C>A		.	.	.	.	.	.	.	.	.	.	c	16.26	3.072990	0.55646	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.79749	-0.75;-0.68;-0.75;-1.29;-0.73;-1.3	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.90414	0.6999	M	0.85542	2.76	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.91904	0.5534	10	0.72032	D	0.01	-17.2151	15.8448	0.78879	0.0:1.0:0.0:0.0	.	533;533;398	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	398;533;533;533;327;533;398	ENSP00000428579:P533T;ENSP00000447548:P533T;ENSP00000369136:P533T;ENSP00000428955:P327T;ENSP00000447224:P533T;ENSP00000340159:P398T	ENSP00000340159:P398T	P	+	1	0	NWD1	16722050	0.998000	0.40836	0.986000	0.45419	0.167000	0.22549	4.437000	0.59955	2.339000	0.79563	0.549000	0.68633	CCA		PASS	0.642	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		3	36	3	36	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19655799	19655799	+	Silent	SNP	C	C	T	rs200778798	byFrequency	TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:19655799C>T	ENST00000291495.5	+	8	2530	c.2445C>T	c.(2443-2445)ggC>ggT	p.G815G	CILP2_ENST00000586018.1_Silent_p.G821G	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	815						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.G815G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCCTGGGCGGCGAGGAGCTGG	0.746																																						uc002nmv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2443-2445)GGC>GGT		cartilage intermediate layer protein 2							6.0	7.0	7.0					19																	19655799		2035	3965	6000	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655799C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2445C>T	19.37:g.19655799C>T						CILP2_uc002nmw.3_Silent_p.G821G	p.G815G	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	2530	+			815					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2445C>T	CCDS12405.1																																																																																				PASS	0.746	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		4	14	4	14	---	---	---	---
ZNF566	84924	broad.mit.edu	37	19	36940338	36940338	+	Silent	SNP	A	A	G	rs202038114		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:36940338A>G	ENST00000434377.2	-	5	879	c.798T>C	c.(796-798)agT>agC	p.S266S	ZNF566_ENST00000454319.1_Silent_p.S267S|ZNF566_ENST00000493391.1_Silent_p.S162S|ZNF566_ENST00000424129.2_Silent_p.S266S|ZNF566_ENST00000392170.2_Silent_p.S267S	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S266S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AGTTTGAACCACTACTAAAGG	0.423																																						uc002oea.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)AGT>AGC		zinc finger protein 566 isoform 1							88.0	88.0	88.0					19																	36940338		2203	4300	6503	SO:0001819	synonymous_variant	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940338A>G	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.798T>C	19.37:g.36940338A>G						ZNF566_uc010xte.1_Silent_p.S266S|ZNF566_uc010xtf.1_Silent_p.S267S|ZNF566_uc002oeb.3_Silent_p.S266S|ZNF566_uc002oec.3_Silent_p.S162S|ZNF566_uc010xtg.1_Silent_p.S162S	p.S266S	NM_032838	NP_116227	Q969W8	ZN566_HUMAN			5	880	-	Esophageal squamous(110;0.162)		266			C2H2-type 4.		B7ZL95|Q2M3J1	Silent	SNP	ENST00000434377.2	37	c.798T>C	CCDS12494.1																																																																																				PASS	0.423	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		6	88	6	88	---	---	---	---
ZNF529	57711	broad.mit.edu	37	19	37037943	37037943	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:37037943T>C	ENST00000591340.1	-	5	1675	c.1517A>G	c.(1516-1518)tAt>tGt	p.Y506C	ZNF529_ENST00000334116.7_Missense_Mutation_p.Y401C	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	506					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.Y506C(1)|p.Y505C(1)		breast(1)	1	Esophageal squamous(110;0.198)					CTTGCATTCATAGGGTTTTTC	0.408																																						uc002oeh.3																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1516-1518)TAT>TGT		zinc finger protein 529 isoform a							65.0	70.0	68.0					19																	37037943		2198	4298	6496	SO:0001583	missense	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37037943T>C	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1517A>G	19.37:g.37037943T>C	ENSP00000465578:p.Tyr506Cys					ZNF529_uc010xth.1_Missense_Mutation_p.Y506C|ZNF529_uc010xti.1_Missense_Mutation_p.Y488C|ZNF529_uc002oeg.3_Missense_Mutation_p.Y401C	p.Y506C	NM_020951	NP_066002	Q6P280	ZN529_HUMAN			5	1719	-	Esophageal squamous(110;0.198)		473			C2H2-type 11.		K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	c.1517A>G	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	T	9.454	1.091380	0.20471	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.29	3.29	0.37713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70228	0.3200	M	0.86420	2.815	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.978;0.987	T	0.59941	-0.7359	8	0.87932	D	0	.	10.7269	0.46074	0.0:0.0:0.0:1.0	.	401;473	Q6P280-2;Q6P280	.;ZN529_HUMAN	C	506	.	ENSP00000334695:Y506C	Y	-	2	0	ZNF529	41729783	0.000000	0.05858	0.653000	0.29593	0.286000	0.27126	-0.078000	0.11375	1.352000	0.45808	0.482000	0.46254	TAT		PASS	0.408	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		15	64	15	64	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37210578	37210578	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:37210578T>C	ENST00000536254.2	+	6	1174	c.952T>C	c.(952-954)Ttc>Ctc	p.F318L	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.F287L|ZNF567_ENST00000360729.4_Missense_Mutation_p.F287L|ZNF567_ENST00000588311.1_Missense_Mutation_p.F287L|ZNF567_ENST00000392163.2_Missense_Mutation_p.F287L			Q8N184	ZN567_HUMAN	zinc finger protein 567	318					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.F287L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGTAAGTCCTTCCGCCTCAA	0.423																																						uc010xtl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(952-954)TTC>CTC		zinc finger protein 567							60.0	60.0	60.0					19																	37210578		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210578T>C	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.952T>C	19.37:g.37210578T>C	ENSP00000441838:p.Phe318Leu					ZNF567_uc002oeo.1_Missense_Mutation_p.F318L|ZNF567_uc010xtk.1_Missense_Mutation_p.F318L|ZNF567_uc002oep.3_Missense_Mutation_p.F287L|ZNF567_uc002oeq.1_Missense_Mutation_p.F287L	p.F318L	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1174	+	Esophageal squamous(110;0.198)		318			C2H2-type 4.		B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.952T>C		.	.	.	.	.	.	.	.	.	.	T	23.4	4.416907	0.83449	.	.	ENSG00000189042	ENST00000536254;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.46063	0.88;0.88;0.88	4.53	4.53	0.55603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000254	T	0.67144	0.2862	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.73288	-0.4030	10	0.72032	D	0.01	.	12.1261	0.53917	0.0:0.0:0.0:1.0	.	318;287	Q8N184;F8WEL6	ZN567_HUMAN;.	L	318;287;317;287	ENSP00000441838:F318L;ENSP00000353957:F287L;ENSP00000376003:F287L	ENSP00000353957:F287L	F	+	1	0	ZNF567	41902418	1.000000	0.71417	0.987000	0.45799	0.980000	0.70556	4.053000	0.57427	2.028000	0.59812	0.379000	0.24179	TTC		PASS	0.423	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		6	38	6	38	---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38189610	38189610	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:38189610C>G	ENST00000355202.4	-	5	2017	c.1422G>C	c.(1420-1422)gaG>gaC	p.E474D	ZNF607_ENST00000395835.3_Missense_Mutation_p.E473D|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	474					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.E474D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CATAGGGTTTCTCTCCTGTAT	0.378																																						uc002ohc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1420-1422)GAG>GAC		zinc finger protein 607							93.0	94.0	93.0					19																	38189610		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189610C>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.1422G>C	19.37:g.38189610C>G	ENSP00000347338:p.Glu474Asp					ZNF607_uc002ohb.1_Missense_Mutation_p.E473D	p.E474D	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	2018	-			474					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1422G>C	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264759	0.23136	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.26810	1.71;1.71	2.38	2.38	0.29361	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21841	0.0526	N	0.12853	0.265	0.28469	N	0.915496	P;P	0.48294	0.864;0.908	P;P	0.49665	0.618;0.532	T	0.12192	-1.0557	9	0.72032	D	0.01	.	11.8403	0.52350	0.0:1.0:0.0:0.0	.	474;473	Q96SK3;F5H141	ZN607_HUMAN;.	D	474;473	ENSP00000347338:E474D;ENSP00000438015:E473D	ENSP00000347338:E474D	E	-	3	2	ZNF607	42881450	0.189000	0.23263	0.446000	0.26920	0.289000	0.27227	0.221000	0.17680	1.319000	0.45190	0.561000	0.74099	GAG		PASS	0.378	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		12	102	12	102	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38692538	38692538	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:38692538C>T	ENST00000222345.6	+	20	5530	c.5021C>T	c.(5020-5022)cCg>cTg	p.P1674L	CTB-102L5.8_ENST00000598146.1_RNA|RN7SL663P_ENST00000578592.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1674					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.P1674L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTGAACGACCCGGCCCTGAGC	0.667																																						uc002ohk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5020-5022)CCG>CTG		signal-induced proliferation-associated 1 like							61.0	59.0	60.0					19																	38692538		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38692538C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.5021C>T	19.37:g.38692538C>T	ENSP00000222345:p.Pro1674Leu						p.P1674L	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		20	5530	+			1674					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.5021C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435984	0.25813	.	.	ENSG00000105738	ENST00000222345	T	0.28895	1.59	4.82	4.82	0.62117	.	0.450287	0.23670	N	0.045740	T	0.27169	0.0666	L	0.40543	1.245	0.45118	D	0.99813	P	0.50443	0.935	P	0.45167	0.472	T	0.01600	-1.1315	10	0.27082	T	0.32	-6.9422	10.3776	0.44092	0.0:0.9078:0.0:0.0922	.	1674	O60292	SI1L3_HUMAN	L	1674	ENSP00000222345:P1674L	ENSP00000222345:P1674L	P	+	2	0	SIPA1L3	43384378	0.996000	0.38824	0.949000	0.38748	0.225000	0.24961	3.407000	0.52644	2.217000	0.71921	0.561000	0.74099	CCG		PASS	0.667	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	84	6	84	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41932349	41932349	+	IGR	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:41932349G>T	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Missense_Mutation_p.P112H|B3GNT8_ENST00000601379.1_Intron|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.P112H(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GAGGTCCTTGGGGTAGGAGGC	0.682																																						uc002oqs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(334-336)CCC>CAC		UDP-GlcNAc:betaGal							25.0	27.0	27.0					19																	41932349		2202	4299	6501	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932349G>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932349G>T						CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	p.P112H	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN			3	789	-			112			Lumenal (Potential).		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.335C>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242889	0.58995	.	.	ENSG00000177191	ENST00000321702	T	0.40476	1.03	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.88377	2.95	0.52501	D	0.999959	D	0.89917	1.0	D	0.70716	0.97	T	0.75130	-0.3426	10	0.72032	D	0.01	.	13.9288	0.63981	0.0:0.0:1.0:0.0	.	112	Q7Z7M8	B3GN8_HUMAN	H	112	ENSP00000312700:P112H	ENSP00000312700:P112H	P	-	2	0	B3GNT8	46624189	1.000000	0.71417	0.854000	0.33618	0.191000	0.23601	7.395000	0.79876	2.351000	0.79841	0.462000	0.41574	CCC		PASS	0.682	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		10	44	10	44	---	---	---	---
ZNF221	7638	broad.mit.edu	37	19	44470198	44470198	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:44470198G>A	ENST00000251269.5	+	6	872	c.544G>A	c.(544-546)Gtt>Att	p.V182I	ZNF221_ENST00000587682.1_Missense_Mutation_p.V182I|ZNF221_ENST00000592350.1_Missense_Mutation_p.V182I	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	182					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.V182I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTTCAGTGATGTTTCTGTCTT	0.423																																						uc002oxx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(544-546)GTT>ATT		zinc finger protein 221							135.0	121.0	126.0					19																	44470198		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470198G>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.544G>A	19.37:g.44470198G>A	ENSP00000251269:p.Val182Ile					ZNF221_uc010ejb.1_Missense_Mutation_p.V182I|ZNF221_uc010xws.1_Missense_Mutation_p.V182I	p.V182I	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	872	+		Prostate(69;0.0352)	182			C2H2-type 1.		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.544G>A	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	4.670	0.124662	0.08931	.	.	ENSG00000159905	ENST00000251269	T	0.28069	1.63	2.51	-5.01	0.02991	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15565	0.0375	N	0.22421	0.69	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.25363	-1.0134	9	0.22109	T	0.4	.	7.259	0.26193	0.3812:0.489:0.1298:0.0	.	182	Q9UK13	ZN221_HUMAN	I	182	ENSP00000251269:V182I	ENSP00000251269:V182I	V	+	1	0	ZNF221	49162038	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-3.798000	0.00363	-1.622000	0.01560	0.462000	0.41574	GTT		PASS	0.423	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			22	121	22	121	---	---	---	---
RPS11	6205	broad.mit.edu	37	19	50000835	50000835	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:50000835G>C	ENST00000270625.2	+	3	289	c.206G>C	c.(205-207)cGa>cCa	p.R69P	RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000596873.1_Missense_Mutation_p.R69P|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000599561.1_Intron|SNORD35B_ENST00000363660.1_RNA	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	69					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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R69P(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GTGTCCATTCGAGGGCGGATC	0.542																																						uc002pob.1																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)CGA>CCA		ribosomal protein S11							83.0	78.0	80.0					19																	50000835		2203	4300	6503	SO:0001583	missense	6205				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	g.chr19:50000835G>C	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.206G>C	19.37:g.50000835G>C	ENSP00000270625:p.Arg69Pro					SNORD35B_uc002poc.2_5'Flank	p.R69P	NM_001015	NP_001006	P62280	RS11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)	3	286	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	69					B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	c.206G>C	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704444	0.88924	.	.	ENSG00000142534	ENST00000270625	.	.	.	5.36	5.36	0.76844	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.063981	0.64402	D	0.000007	D	0.86715	0.5999	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.90336	0.4355	8	.	.	.	-14.5552	16.5622	0.84569	0.0:0.0:1.0:0.0	.	69	P62280	RS11_HUMAN	P	69	.	.	R	+	2	0	RPS11	54692647	1.000000	0.71417	0.999000	0.59377	0.794000	0.44872	9.601000	0.98297	2.506000	0.84524	0.561000	0.74099	CGA		PASS	0.542	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015		5	98	5	98	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50099808	50099808	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:50099808C>T	ENST00000418929.2	+	4	2228	c.2216C>T	c.(2215-2217)cCc>cTc	p.P739L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)	p.P739L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCGAGACCCCCGAGGGGCTG	0.687																																						uc002poo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(2215-2217)CCC>CTC		proline rich 12							9.0	12.0	11.0					19																	50099808		1921	4094	6015	SO:0001583	missense	57479						DNA binding	g.chr19:50099808C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2216C>T	19.37:g.50099808C>T	ENSP00000394510:p.Pro739Leu						p.P739L	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2216	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.2216C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	3.966	-0.009367	0.07727	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.66	2.61	0.31194	.	.	.	.	.	T	0.65626	0.2709	.	.	.	0.44643	D	0.997627	D	0.89917	1.0	D	0.87578	0.998	T	0.60586	-0.7234	7	0.15066	T	0.55	.	10.4336	0.44421	0.0:0.8984:0.0:0.1016	.	739	Q9ULL5-3	.	L	739	.	ENSP00000394510:P739L	P	+	2	0	PRR12	54791620	0.904000	0.30761	0.714000	0.30535	0.238000	0.25445	1.904000	0.39868	0.885000	0.36088	0.313000	0.20887	CCC		PASS	0.687	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	21	3	21	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52714609	52714609	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:52714609G>A	ENST00000322088.6	+	4	425	c.367G>A	c.(367-369)Gac>Aac	p.D123N	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.D68N|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	123	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.D123N(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCGCCCTCTGACCTGGAGGC	0.667			Mis		clear cell ovarian carcinoma																																	uc002pyp.2				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - Missense(1)		lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(367-369)GAC>AAC		alpha isoform of regulatory subunit A, protein							59.0	63.0	62.0					19																	52714609		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52714609G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.367G>A	19.37:g.52714609G>A	ENSP00000324804:p.Asp123Asn					PPP2R1A_uc010ydk.1_Missense_Mutation_p.D68N|PPP2R1A_uc010epm.1_Missense_Mutation_p.D163N|PPP2R1A_uc002pyq.2_5'UTR	p.D123N	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	4	526	+			123			PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 3.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.367G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553654	0.65425	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.06218	3.33;3.33	4.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.085210	0.47455	D	0.000234	T	0.09818	0.0241	M	0.79011	2.435	0.80722	D	1	P;B;B	0.35844	0.524;0.02;0.02	B;B;B	0.26416	0.069;0.012;0.012	T	0.06427	-1.0827	10	0.41790	T	0.15	-12.4639	15.0187	0.71609	0.0:0.0:1.0:0.0	.	68;123;123	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	N	113;123;68	ENSP00000324804:D123N;ENSP00000415067:D68N	ENSP00000324804:D123N	D	+	1	0	PPP2R1A	57406421	1.000000	0.71417	0.949000	0.38748	0.659000	0.38960	8.523000	0.90576	2.482000	0.83794	0.655000	0.94253	GAC		PASS	0.667	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		7	53	7	53	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56466026	56466026	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:56466026G>C	ENST00000291971.3	+	3	673	c.602G>C	c.(601-603)aGa>aCa	p.R201T	NLRP8_ENST00000590542.1_Missense_Mutation_p.R201T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	201					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R201T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCCAGGGTAGACAGCCCAAG	0.532																																						uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(601-603)AGA>ACA		NLR family, pyrin domain containing 8							91.0	81.0	84.0					19																	56466026		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466026G>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.602G>C	19.37:g.56466026G>C	ENSP00000291971:p.Arg201Thr					NLRP8_uc010etg.2_Missense_Mutation_p.R201T	p.R201T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	673	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	201					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.602G>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924868	0.34002	.	.	ENSG00000179709	ENST00000291971	T	0.25749	1.78	1.78	1.78	0.24846	.	.	.	.	.	T	0.17704	0.0425	N	0.24115	0.695	0.09310	N	1	P;B	0.39352	0.669;0.288	B;B	0.41917	0.37;0.085	T	0.12941	-1.0528	9	0.32370	T	0.25	.	7.0626	0.25133	0.0:0.0:1.0:0.0	.	201;201	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	201	ENSP00000291971:R201T	ENSP00000291971:R201T	R	+	2	0	NLRP8	61157838	0.000000	0.05858	0.011000	0.14972	0.127000	0.20565	-0.825000	0.04433	1.311000	0.45024	0.514000	0.50259	AGA		PASS	0.532	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		17	77	17	77	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57325481	57325481	+	Silent	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr19:57325481G>C	ENST00000326441.9	-	10	4692	c.4329C>G	c.(4327-4329)gcC>gcG	p.A1443A	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.A1319A|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.A1443A|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.A1317A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1443	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A1443A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGGCTGCTCGGCCTCTCCAT	0.572																																						uc002qnu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4327-4329)GCC>GCG		paternally expressed 3 isoform 1							65.0	61.0	62.0					19																	57325481		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325481G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4329C>G	19.37:g.57325481G>C						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.A1414A|PEG3_uc002qnv.2_Silent_p.A1443A|PEG3_uc002qnw.2_Silent_p.A1319A|PEG3_uc002qnx.2_Silent_p.A1317A|PEG3_uc010etr.2_Silent_p.A1443A	p.A1443A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4680	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1443			Glu-rich.|4 X 5 AA repeat of P-X-G-E-A.|1-4.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.4329C>G	CCDS12948.1																																																																																				PASS	0.572	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			15	95	15	95	---	---	---	---
STK35	140901	broad.mit.edu	37	20	2083902	2083902	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr20:2083902C>T	ENST00000381482.3	+	2	1054	c.783C>T	c.(781-783)gtC>gtT	p.V261V	STK35_ENST00000246032.3_Silent_p.V128V|STK35_ENST00000400064.3_Silent_p.V89V			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V261V(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						ACCAGAACGTCGTGCAGTTTG	0.632																																						uc010gak.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(781-783)GTC>GTT		serine/threonine kinase 35							29.0	27.0	28.0					20																	2083902		2203	4300	6503	SO:0001819	synonymous_variant	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2083902C>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.783C>T	20.37:g.2083902C>T						STK35_uc010zpu.1_Silent_p.V128V|STK35_uc002wfw.3_Silent_p.V128V	p.V261V	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN			2	783	+			261			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Silent	SNP	ENST00000381482.3	37	c.783C>T	CCDS13024.2																																																																																				PASS	0.632	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		8	22	8	22	---	---	---	---
UBOX5	22888	broad.mit.edu	37	20	3095978	3095978	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr20:3095978T>C	ENST00000217173.2	-	4	1861	c.1390A>G	c.(1390-1392)Act>Gct	p.T464A	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5-AS1_ENST00000454019.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.T464A(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CTCCAGGAAGTGTTGCTCCCT	0.612											OREG0025729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002whw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1390-1392)ACT>GCT		U-box domain containing 5 isoform a							100.0	67.0	78.0					20																	3095978		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3095978T>C	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1390A>G	20.37:g.3095978T>C	ENSP00000217173:p.Thr464Ala		OREG0025729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	uc002whv.1_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Missense_Mutation_p.T464A	p.T464A	NM_014948	NP_055763	O94941	RNF37_HUMAN			4	1560	-			464						Missense_Mutation	SNP	ENST00000217173.2	37	c.1390A>G	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.485205	0.26598	.	.	ENSG00000185019	ENST00000217173	T	0.31247	1.5	5.01	-7.16	0.01516	.	0.676963	0.13733	N	0.366557	T	0.08846	0.0219	N	0.08118	0	0.22156	N	0.999321	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24476	-1.0159	10	0.14656	T	0.56	-0.336	2.4311	0.04471	0.1228:0.306:0.1079:0.4633	.	464;464	Q53GQ5;O94941	.;RNF37_HUMAN	A	464	ENSP00000217173:T464A	ENSP00000217173:T464A	T	-	1	0	UBOX5	3043978	0.469000	0.25846	0.025000	0.17156	0.735000	0.41995	-0.264000	0.08658	-1.445000	0.01948	-0.736000	0.03550	ACT		PASS	0.612	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		5	35	5	35	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62853285	62853285	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr20:62853285G>C	ENST00000328439.1	+	14	2645	c.2281G>C	c.(2281-2283)Gat>Cat	p.D761H	MYT1_ENST00000360149.4_Missense_Mutation_p.D463H|MYT1_ENST00000536311.1_Missense_Mutation_p.D788H	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D761H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTGAAGCAGATGACCAGGA	0.517																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2281-2283)GAT>CAT		myelin transcription factor 1							54.0	55.0	55.0					20																	62853285		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62853285G>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2281G>C	20.37:g.62853285G>C	ENSP00000327465:p.Asp761His					MYT1_uc002yih.2_Missense_Mutation_p.D463H|MYT1_uc002yij.2_Missense_Mutation_p.D420H	p.D761H	NM_004535	NP_004526	Q01538	MYT1_HUMAN			14	2645	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		761					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2281G>C	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575228	0.65878	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.50813	0.73;0.73;0.73	5.12	5.12	0.69794	Myelin transcription factor 1 (1);	0.056706	0.64402	D	0.000002	T	0.65657	0.2712	L	0.55481	1.735	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.991;0.995;0.969	T	0.67078	-0.5761	10	0.56958	D	0.05	-22.5786	18.5518	0.91068	0.0:0.0:1.0:0.0	.	788;761;463	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	H	463;761;788	ENSP00000353269:D463H;ENSP00000327465:D761H;ENSP00000442412:D788H	ENSP00000327465:D761H	D	+	1	0	MYT1	62323729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.332000	0.96446	2.396000	0.81511	0.655000	0.94253	GAT		PASS	0.517	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		6	54	6	54	---	---	---	---
USP25	29761	broad.mit.edu	37	21	17214736	17214736	+	Silent	SNP	A	A	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:17214736A>C	ENST00000285679.6	+	18	2583	c.2214A>C	c.(2212-2214)ccA>ccC	p.P738P	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Silent_p.P738P|USP25_ENST00000285681.2_Silent_p.P738P	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	738					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.P738P(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGGAGACCCAGAATATCTAG	0.323																																						uc002yjy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|liver(2)	5						c.(2212-2214)CCA>CCC		ubiquitin specific peptidase 25							70.0	73.0	72.0					21																	17214736		2203	4300	6503	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17214736A>C	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2214A>C	21.37:g.17214736A>C						USP25_uc011aby.1_Silent_p.P738P|USP25_uc002yjz.1_Silent_p.P738P|USP25_uc010gla.1_Intron	p.P738P	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	18	2431	+			738					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.2214A>C	CCDS33515.1																																																																																				PASS	0.323	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			19	69	19	69	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443570	17443570	+	lincRNA	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:17443570T>C	ENST00000458468.1	+	0	164					NR_027790.1													p.L46P(1)									ACAGCTGGGCTGAACAAGATT	0.547																																						uc002ykb.2																			1	Substitution - Missense(1)		lung(1)		0								Homo sapiens C21ORF34 (C21orf34) mRNA, partial cds, alternatively spliced.							122.0	113.0	116.0					21																	17443570		2203	4300	6503			388815							g.chr21:17443570T>C																													21.37:g.17443570T>C						C21orf34_uc010glc.2_RNA		NR_027790					Epithelial(23;8.3e-05)|all cancers(11;0.000383)|Colorectal(24;0.00387)|COAD - Colon adenocarcinoma(22;0.0113)|OV - Ovarian serous cystadenocarcinoma(11;0.0127)|LUSC - Lung squamous cell carcinoma(23;0.153)	2		+		Breast(209;0.152)							RNA	SNP	ENST00000458468.1	37	c.164T>C																																																																																					PASS	0.547	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			7	137	7	137	---	---	---	---
KRTAP19-5	337972	broad.mit.edu	37	21	31874377	31874377	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:31874377A>C	ENST00000334151.2	-	1	58	c.32T>G	c.(31-33)cTg>cGg	p.L11R		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	11						intermediate filament (GO:0005882)		p.L11R(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						GCCGTAGCCCAGGCCTCCATA	0.567																																						uc011ada.1																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)CTG>CGG		keratin associated protein 19-5							137.0	113.0	121.0					21																	31874377		2203	4300	6503	SO:0001583	missense	337972					intermediate filament	protein binding	g.chr21:31874377A>C	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.32T>G	21.37:g.31874377A>C	ENSP00000334985:p.Leu11Arg						p.L11R	NM_181611	NP_853642	Q3LI72	KR195_HUMAN			1	32	-			11					A4IF22	Missense_Mutation	SNP	ENST00000334151.2	37	c.32T>G	CCDS13597.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303520	0.23736	.	.	ENSG00000186977	ENST00000334151	T	0.11712	2.75	5.18	-0.634	0.11516	.	0.921671	0.08777	U	0.895245	T	0.08537	0.0212	.	.	.	0.26209	N	0.97934	B	0.22146	0.065	B	0.20384	0.029	T	0.37753	-0.9692	9	0.87932	D	0	-0.2335	6.5715	0.22541	0.4265:0.4836:0.0899:0.0	.	11	Q3LI72	KR195_HUMAN	R	11	ENSP00000334985:L11R	ENSP00000334985:L11R	L	-	2	0	KRTAP19-5	30796248	0.006000	0.16342	0.290000	0.24890	0.793000	0.44817	0.059000	0.14322	0.033000	0.15463	0.482000	0.46254	CTG		PASS	0.567	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2			23	86	23	86	---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34625014	34625014	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:34625014C>T	ENST00000342136.4	+	7	914	c.588C>T	c.(586-588)atC>atT	p.I196I	IFNAR2_ENST00000382241.3_Silent_p.I196I|IFNAR2_ENST00000382264.3_Silent_p.I196I|IFNAR2_ENST00000404220.3_Silent_p.I196I|IFNAR2_ENST00000342101.3_Silent_p.I196I|IFNAR2_ENST00000413881.1_Silent_p.I124I|AP000295.9_ENST00000433395.2_Missense_Mutation_p.S104L			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	196			I -> V (in dbSNP:rs17860223). {ECO:0000269|Ref.6}.		cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)	p.I196I(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TCACCTATATCATTGACAAGT	0.353																																						uc002yrd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(586-588)ATC>ATT		interferon alpha/beta receptor 2 isoform a	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						95.0	87.0	90.0					21																	34625014		2203	4300	6503	SO:0001819	synonymous_variant	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34625014C>T		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.588C>T	21.37:g.34625014C>T						IFNAR2_uc002yrb.2_Silent_p.I196I|IFNAR2_uc002yrc.2_Silent_p.I196I|IFNAR2_uc002yre.2_Silent_p.I196I|IFNAR2_uc002yrf.2_Silent_p.I196I|IFNAR2_uc002yrg.2_Silent_p.I65I|IL10RB_uc002yrh.1_Silent_p.I46I|IL10RB_uc002yri.1_5'UTR	p.I196I	NM_207585	NP_997468	P48551	INAR2_HUMAN			7	916	+			196			Extracellular (Potential).		A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Silent	SNP	ENST00000342136.4	37	c.588C>T	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	C	6.006	0.369522	0.11352	.	.	ENSG00000249624	ENST00000433395	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	T	0.62478	0.2431	.	.	.	0.46749	D	0.999184	.	.	.	.	.	.	T	0.59500	-0.7443	4	.	.	.	.	12.1737	0.54173	0.0:1.0:0.0:0.0	.	.	.	.	L	104	.	.	S	+	2	0	AP000295.9	33546884	0.960000	0.32886	0.048000	0.18961	0.784000	0.44337	1.716000	0.37981	2.582000	0.87167	0.561000	0.74099	TCA		PASS	0.353	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			4	48	4	48	---	---	---	---
SETD4	54093	broad.mit.edu	37	21	37418233	37418233	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:37418233G>C	ENST00000399215.1	-	5	1745	c.373C>G	c.(373-375)Ctt>Gtt	p.L125V	SETD4_ENST00000399201.1_Missense_Mutation_p.L101V|SETD4_ENST00000399208.2_Missense_Mutation_p.L125V|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.L125V|SETD4_ENST00000399205.1_Missense_Mutation_p.L101V|SETD4_ENST00000399212.1_Missense_Mutation_p.L101V|SETD4_ENST00000399207.1_Missense_Mutation_p.L125V			Q9NVD3	SETD4_HUMAN	SET domain containing 4	125	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)	p.L125V(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GGCTTCCAAAGAGATCGGTGC	0.463																																						uc002yuw.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(373-375)CTT>GTT		SET domain containing 4 isoform a							59.0	67.0	64.0					21																	37418233		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37418233G>C	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.373C>G	21.37:g.37418233G>C	ENSP00000382163:p.Leu125Val					SETD4_uc002yux.1_Missense_Mutation_p.L101V|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.L125V|SETD4_uc002yuy.2_Missense_Mutation_p.L125V|SETD4_uc002yuz.2_Missense_Mutation_p.L101V|SETD4_uc002yva.2_Missense_Mutation_p.L101V	p.L125V	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN			5	1746	-			125			SET.		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.373C>G	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	G	5.315	0.243446	0.10077	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000446166	T;T;T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	4.97	0.911	0.19343	SET domain (1);	0.952912	0.08861	N	0.883092	T	0.10380	0.0254	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.002	B;B;B;B	0.12156	0.004;0.003;0.003;0.007	T	0.42849	-0.9427	10	0.15066	T	0.55	-3.3871	11.1146	0.48254	0.0671:0.3488:0.5841:0.0	.	101;125;101;125	A8MTS1;C9JWV5;Q9NVD3-3;Q9NVD3	.;.;.;SETD4_HUMAN	V	125;101;125;101;125;101;125;125;125;101	ENSP00000382163:L125V;ENSP00000382161:L101V;ENSP00000329189:L125V;ENSP00000382156:L101V;ENSP00000382159:L125V;ENSP00000382152:L101V;ENSP00000382158:L125V;ENSP00000399998:L125V;ENSP00000396837:L125V;ENSP00000413318:L101V	ENSP00000329189:L125V	L	-	1	0	SETD4	36340103	0.007000	0.16637	0.263000	0.24496	0.658000	0.38924	0.795000	0.26972	-0.037000	0.13646	0.655000	0.94253	CTT		PASS	0.463	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		7	129	7	129	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37591765	37591765	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:37591765A>G	ENST00000399151.3	+	10	1310	c.1225A>G	c.(1225-1227)Acc>Gcc	p.T409A		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	409					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.T409A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTAGCTACACCCAGAGTGG	0.463																																						uc002yvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1225-1227)ACC>GCC		pad-1-like							150.0	132.0	138.0					21																	37591765		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37591765A>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1225A>G	21.37:g.37591765A>G	ENSP00000382104:p.Thr409Ala					DOPEY2_uc011aeb.1_Missense_Mutation_p.T409A	p.T409A	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			10	1304	+			409					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.1225A>G	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117713	0.56505	.	.	ENSG00000142197	ENST00000399151	T	0.11495	2.77	5.61	5.61	0.85477	.	0.392801	0.30020	N	0.010608	T	0.13415	0.0325	L	0.57536	1.79	0.30982	N	0.722403	P;P	0.38827	0.649;0.518	B;B	0.36567	0.228;0.114	T	0.06197	-1.0840	10	0.32370	T	0.25	.	14.4176	0.67160	1.0:0.0:0.0:0.0	.	409;409	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	A	409	ENSP00000382104:T409A	ENSP00000382104:T409A	T	+	1	0	DOPEY2	36513635	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.394000	0.73223	2.146000	0.66826	0.456000	0.33151	ACC		PASS	0.463	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		19	112	19	112	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40570728	40570728	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:40570728C>G	ENST00000333229.2	-	40	5941	c.5614G>C	c.(5614-5616)Gat>Cat	p.D1872H	BRWD1_ENST00000342449.3_Missense_Mutation_p.D1872H|BRWD1_ENST00000380800.3_Missense_Mutation_p.D1872H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1872					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D1872H(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTGTCATCATCTGAATCTAAA	0.338																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(5614-5616)GAT>CAT		bromodomain and WD repeat domain containing 1							87.0	80.0	83.0					21																	40570728		2202	4300	6502	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40570728C>G	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5614G>C	21.37:g.40570728C>G	ENSP00000330753:p.Asp1872His					BRWD1_uc010goc.1_Missense_Mutation_p.D515H|BRWD1_uc002yxl.2_Missense_Mutation_p.D1872H	p.D1872H	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			40	5753	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1872					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5614G>C	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182657	0.57800	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.47869	0.83;0.83;0.83	5.41	4.52	0.55395	.	0.357834	0.26927	N	0.021791	T	0.54334	0.1852	L	0.61218	1.895	0.20074	N	0.999937	P;B	0.46220	0.874;0.41	P;B	0.53593	0.73;0.157	T	0.47114	-0.9142	10	0.38643	T	0.18	-4.2696	8.9383	0.35713	0.0:0.8432:0.0:0.1568	.	1872;1872	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	H	1872	ENSP00000330753:D1872H;ENSP00000344333:D1872H;ENSP00000370178:D1872H	ENSP00000330753:D1872H	D	-	1	0	BRWD1	39492598	0.283000	0.24277	0.710000	0.30468	0.720000	0.41350	1.556000	0.36288	2.541000	0.85698	0.655000	0.94253	GAT		PASS	0.338	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		13	75	13	75	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41385159	41385159	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:41385159C>T	ENST00000400454.1	-	33	6318	c.5841G>A	c.(5839-5841)ccG>ccA	p.P1947P		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1947				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P1947P(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGCTTCCATCGGGATGGGCT	0.657																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5839-5841)CCG>CCA		Down syndrome cell adhesion molecule isoform							35.0	37.0	36.0					21																	41385159		1966	4136	6102	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385159C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5841G>A	21.37:g.41385159C>T						DSCAM_uc002yyr.1_RNA	p.P1947P	NM_001389	NP_001380	O60469	DSCAM_HUMAN			33	6293	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1947	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).		Cytoplasmic (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.5841G>A	CCDS42929.1																																																																																				PASS	0.657	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		6	52	6	52	---	---	---	---
MX2	4600	broad.mit.edu	37	21	42779983	42779983	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:42779983T>A	ENST00000330714.3	+	14	2155	c.1971T>A	c.(1969-1971)aaT>aaA	p.N657K		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	657	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N657K(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCGAGAGAATGGTGACTCCT	0.463																																						uc002yzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1969-1971)AAT>AAA		myxovirus resistance protein 2							79.0	82.0	81.0					21																	42779983		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42779983T>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1971T>A	21.37:g.42779983T>A	ENSP00000333657:p.Asn657Lys					MX2_uc002yzg.1_Missense_Mutation_p.N380K|MX2_uc010gop.1_Missense_Mutation_p.N139K	p.N657K	NM_002463	NP_002454	P20592	MX2_HUMAN			14	2075	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	657			GED.		B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1971T>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191159	0.58017	.	.	ENSG00000183486	ENST00000330714;ENST00000398632	T	0.54279	0.58	3.88	-3.26	0.05064	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.355298	0.28538	N	0.014997	T	0.47600	0.1454	L	0.51422	1.61	0.09310	N	1	P	0.37688	0.605	P	0.45712	0.491	T	0.49781	-0.8903	10	0.46703	T	0.11	.	9.1977	0.37237	0.0:0.516:0.0:0.484	.	657	P20592	MX2_HUMAN	K	657;131	ENSP00000333657:N657K	ENSP00000333657:N657K	N	+	3	2	MX2	41701853	0.000000	0.05858	0.000000	0.03702	0.556000	0.35491	-1.737000	0.01843	-0.750000	0.04740	0.455000	0.32223	AAT		PASS	0.463	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		15	97	15	97	---	---	---	---
AIRE	326	broad.mit.edu	37	21	45709879	45709879	+	Silent	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr21:45709879T>C	ENST00000291582.5	+	7	934	c.807T>C	c.(805-807)ggT>ggC	p.G269G	AIRE_ENST00000329347.4_5'Flank|AIRE_ENST00000355347.4_5'Flank	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	269	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)	p.G269G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AGGGTGGAGGTGAGGCTAGGC	0.692									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													uc002zei.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(805-807)GGT>GGC		autoimmune regulator isoform 1							19.0	21.0	21.0					21																	45709879		2185	4293	6478	SO:0001819	synonymous_variant	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45709879T>C	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.807T>C	21.37:g.45709879T>C						AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	p.G269G	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	7	934	+			269			SAND.		B2RP50|O43922|O43932|O75745	Silent	SNP	ENST00000291582.5	37	c.807T>C	CCDS13706.1																																																																																				PASS	0.692	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			5	18	5	18	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022478	18022478	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr22:18022478C>A	ENST00000400585.2	+	16	2595	c.2157C>A	c.(2155-2157)agC>agA	p.S719R	CECR2_ENST00000400573.5_Missense_Mutation_p.S860R|CECR2_ENST00000262608.8_Missense_Mutation_p.S861R			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	902					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.S860R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGATGGACAGCCCAGAGATGA	0.632																																						uc010gqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2578-2580)AGC>AGA		cat eye syndrome chromosome region, candidate 2							58.0	66.0	63.0					22																	18022478		2052	4186	6238	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022478C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2157C>A	22.37:g.18022478C>A	ENSP00000383428:p.Ser719Arg					CECR2_uc010gqv.1_Missense_Mutation_p.S719R|CECR2_uc002zml.2_Missense_Mutation_p.S719R	p.S860R	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2706	+		all_epithelial(15;0.139)	902					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2580C>A		.	.	.	.	.	.	.	.	.	.	C	17.32	3.359855	0.61403	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.42900	1.05;1.04;0.96	5.11	4.06	0.47325	.	0.000000	0.64402	D	0.000004	T	0.58466	0.2124	M	0.69823	2.125	0.45490	D	0.998457	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.991;0.994;0.994	T	0.59768	-0.7392	10	0.59425	D	0.04	-20.2624	7.5622	0.27857	0.0:0.7339:0.0:0.2661	.	902;719;860	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	R	719;860;861	ENSP00000383428:S719R;ENSP00000383417:S860R;ENSP00000262608:S861R	ENSP00000262608:S861R	S	+	3	2	CECR2	16402478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.085000	0.30840	1.298000	0.44778	0.561000	0.74099	AGC		PASS	0.632	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		14	66	14	66	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869714	22869714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr22:22869714G>A	ENST00000302097.3	-	2	493	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	81					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.Q81*(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCAGGATATTGACGGAAGTGG	0.473																																						uc002zwe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(241-243)CAA>TAA		zinc finger protein 280A							216.0	174.0	188.0					22																	22869714		2203	4300	6503	SO:0001587	stop_gained	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869714G>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.241C>T	22.37:g.22869714G>A	ENSP00000302855:p.Gln81*					LOC96610_uc011aim.1_Intron	p.Q81*	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	494	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	81						Nonsense_Mutation	SNP	ENST00000302097.3	37	c.241C>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563409	0.86335	.	.	ENSG00000169548	ENST00000302097	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-4.0077	11.4591	0.50199	0.0:0.0:1.0:0.0	.	.	.	.	X	81	.	ENSP00000302855:Q81X	Q	-	1	0	ZNF280A	21199714	0.168000	0.22989	0.139000	0.22197	0.007000	0.05969	1.638000	0.37165	2.394000	0.81467	0.650000	0.86243	CAA		PASS	0.473	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		25	109	25	109	---	---	---	---
PISD	23761	broad.mit.edu	37	22	32015789	32015789	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr22:32015789C>T	ENST00000439502.2	-	8	1262	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	PISD_ENST00000382151.2_Missense_Mutation_p.G313S|PISD_ENST00000266095.5_Missense_Mutation_p.G313S|PISD_ENST00000397500.1_Missense_Mutation_p.G259E|PISD_ENST00000478893.1_5'Flank|PISD_ENST00000336566.4_Missense_Mutation_p.G346S			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	347					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)	p.G313S(1)|p.G347S(1)		central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TTGTAGGAGCCCTTGCTGTGC	0.607																																						uc003alm.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1039-1041)GGC>AGC		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						161.0	121.0	135.0					22																	32015789		2203	4300	6503	SO:0001583	missense	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32015789C>T		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.1039G>A	22.37:g.32015789C>T	ENSP00000391739:p.Gly347Ser					PISD_uc003alk.2_Missense_Mutation_p.G313S|PISD_uc003all.2_Missense_Mutation_p.G258E|PISD_uc011alr.1_Missense_Mutation_p.G312S|PISD_uc003aln.3_Missense_Mutation_p.G309S	p.G347S	NM_014338	NP_055153	Q9UG56	PISD_HUMAN			8	1046	-			347					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37	c.1039G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.56|19.56	3.850839|3.850839	0.71719|0.71719	.|.	.|.	ENSG00000241878|ENSG00000241878	ENST00000397500|ENST00000382151;ENST00000266095;ENST00000439502;ENST00000336566;ENST00000451635	.|.	.|.	.|.	5.12|5.12	4.11|4.11	0.48088|0.48088	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.64193|0.64193	0.2576|0.2576	L|L	0.48218|0.48218	1.51|1.51	0.80722|0.80722	D|D	1|1	B|P;B;P	0.21147|0.51240	0.052|0.943;0.236;0.562	B|P;B;P	0.27262|0.59221	0.078|0.854;0.27;0.544	T|T	0.61564|0.61564	-0.7037|-0.7037	9|9	0.42905|0.34782	T|T	0.14|0.22	-14.681|-14.681	12.5963|12.5963	0.56472|0.56472	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	259|299;347;313	B1AKM6|B1AJZ0;Q9UG56;Q9UG56-2	.|.;PISD_HUMAN;.	E|S	259|313;313;347;346;313	.|.	ENSP00000380637:G259E|ENSP00000266095:G313S	G|G	-|-	2|1	0|0	PISD|PISD	30345789|30345789	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.700000|0.700000	0.40528|0.40528	7.389000|7.389000	0.79806|0.79806	1.155000|1.155000	0.42497|0.42497	0.467000|0.467000	0.42956|0.42956	GGG|GGC		PASS	0.607	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			10	45	10	45	---	---	---	---
MGAT3	4248	broad.mit.edu	37	22	39884490	39884490	+	Missense_Mutation	SNP	C	C	T	rs149871838		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr22:39884490C>T	ENST00000341184.6	+	2	1353	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	380					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.R380C(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGACGGCATCCGCCTGCGCCG	0.647																																						uc003axv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1138-1140)CGC>TGC		mannosyl (beta-1,4-)-glycoprotein		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	40.0	43.0	42.0		1138,1138	5.4	1.0	22	dbSNP_134	42	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	MGAT3	NM_001098270.1,NM_002409.4	180,180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	380/534,380/534	39884490	1,13003	2203	4299	6502	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884490C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1138C>T	22.37:g.39884490C>T	ENSP00000345270:p.Arg380Cys					MGAT3_uc010gxy.2_Missense_Mutation_p.R380C	p.R380C	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	1377	+	Melanoma(58;0.04)		380			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.1138C>T	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609196	0.66558	0.0	1.16E-4	ENSG00000128268	ENST00000341184	.	.	.	5.37	5.37	0.77165	.	0.134298	0.47455	D	0.000226	T	0.64527	0.2606	L	0.43152	1.355	0.58432	D	0.999995	D	0.67145	0.996	P	0.54815	0.761	T	0.62817	-0.6774	9	0.39692	T	0.17	.	19.0965	0.93253	0.0:1.0:0.0:0.0	.	380	Q09327	MGAT3_HUMAN	C	380	.	ENSP00000345270:R380C	R	+	1	0	MGAT3	38214436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.462000	0.53042	2.531000	0.85337	0.555000	0.69702	CGC		PASS	0.647	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		8	71	8	71	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40706902	40706902	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chr22:40706902G>T	ENST00000454349.2	+	17	4551	c.4340G>T	c.(4339-4341)gGc>gTc	p.G1447V	TNRC6B_ENST00000402203.1_Missense_Mutation_p.G643V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G643V|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G1337V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1447	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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 translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G1461V(1)|p.G643V(1)		breast(1)	1						ACACTGGGTGGCCATACGGGT	0.507																																						uc011aor.1																			2	Substitution - Missense(2)		lung(2)		0						c.(4339-4341)GGC>GTC		trinucleotide repeat containing 6B isoform 1							54.0	51.0	52.0					22																	40706902		1883	4113	5996	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40706902G>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4340G>T	22.37:g.40706902G>T	ENSP00000401946:p.Gly1447Val					TNRC6B_uc003aym.2_Missense_Mutation_p.G643V|TNRC6B_uc003ayn.3_Missense_Mutation_p.G1337V|TNRC6B_uc003ayo.2_Missense_Mutation_p.G1194V	p.G1447V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			17	4551	+			1447					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4340G>T	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.324346|4.324346	0.81580|0.81580	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	.|T;T;T;T	.|0.32272	.|1.46;1.46;2.72;2.71	5.76|5.76	4.73|4.73	0.59995|0.59995	.|.	.|0.210003	.|0.49916	.|N	.|0.000121	T|T	0.41096|0.41096	0.1144|0.1144	L|L	0.33485|0.33485	1.01|1.01	0.58432|0.58432	D|D	0.999993|0.999993	.|D;B;B;D	.|0.61080	.|0.989;0.0;0.0;0.973	.|P;B;B;P	.|0.58780	.|0.845;0.0;0.001;0.816	T|T	0.36359|0.36359	-0.9751|-0.9751	5|10	.|0.66056	.|D	.|0.02	-2.1766|-2.1766	16.0881|16.0881	0.81073|0.81073	0.0:0.0:0.8649:0.1351|0.0:0.0:0.8649:0.1351	.|.	.|1447;1337;1337;643	.|Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2	.|TNR6B_HUMAN;.;.;.	S|V	1133|643;643;1447;1337;1337	.|ENSP00000306759:G643V;ENSP00000384795:G643V;ENSP00000401946:G1447V;ENSP00000338371:G1337V	.|ENSP00000306759:G643V	A|G	+|+	1|2	0|0	TNRC6B|TNRC6B	39036848|39036848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.477000|5.477000	0.66799|0.66799	1.417000|1.417000	0.47077|0.47077	0.655000|0.655000	0.94253|0.94253	GCC|GGC		PASS	0.507	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				4	26	4	26	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31497149	31497149	+	Silent	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:31497149C>A	ENST00000357033.4	-	58	8825	c.8619G>T	c.(8617-8619)ctG>ctT	p.L2873L	DMD_ENST00000378707.3_Silent_p.L413L|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Silent_p.L413L|DMD_ENST00000474231.1_Silent_p.L413L|DMD_ENST00000541735.1_Silent_p.L413L|DMD_ENST00000359836.1_Silent_p.L413L|DMD_ENST00000378677.2_Silent_p.L2869L	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	2873					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.L1532L(1)|p.L2868L(1)|p.L413L(1)|p.L2873L(1)|p.L2869L(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)				GCTGCTCTGTCAGAAATATTC	0.393																																						uc004dda.1																			5	Substitution - coding silent(5)		lung(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8617-8619)CTG>CTT		dystrophin Dp427m isoform							107.0	95.0	99.0					X																	31497149		2202	4300	6502	SO:0001819	synonymous_variant	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:31497149C>A	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.8619G>T	X.37:g.31497149C>A						DMD_uc004dcq.1_Silent_p.L144L|DMD_uc004dcr.1_Silent_p.L413L|DMD_uc004dcs.1_Silent_p.L413L|DMD_uc004dct.1_Silent_p.L413L|DMD_uc004dcu.1_Silent_p.L413L|DMD_uc004dcv.1_Silent_p.L413L|DMD_uc004dcw.2_Silent_p.L1529L|DMD_uc004dcx.2_Silent_p.L1532L|DMD_uc004dcz.2_Silent_p.L2750L|DMD_uc004dcy.1_Silent_p.L2869L|DMD_uc004ddb.1_Silent_p.L2865L	p.L2873L	NM_004006	NP_003997	P11532	DMD_HUMAN			58	8863	-		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)	2873			Spectrin 20.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.8619G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	6.469	0.454736	0.12283	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.14	4.22	0.49857	.	.	.	.	.	T	0.54447	0.1859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52495	-0.8568	4	.	.	.	.	5.961	0.19299	0.1595:0.6754:0.0:0.1651	.	.	.	.	Y	602	.	.	D	-	1	0	DMD	31407070	0.977000	0.34250	1.000000	0.80357	0.996000	0.88848	0.183000	0.16919	2.257000	0.74773	0.600000	0.82982	GAC		PASS	0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		7	61	7	61	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41078486	41078486	+	Splice_Site	SNP	T	T	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:41078486T>A	ENST00000324545.8	+	38	7198		c.e38+2		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.?(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAATTTAGGTAAGAATTTAA	0.323																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			2	Unknown(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.e38+2		ubiquitin specific protease 9, X-linked isoform							67.0	66.0	66.0					X																	41078486		2181	4294	6475	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41078486T>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6565+2T>A	X.37:g.41078486T>A						USP9X_uc004dfc.2_Splice_Site_p.G2189_splice	p.G2189_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			38	7198	+								O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37	c.6565_splice	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442280	0.83993	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4113	0.67117	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP9X	40963430	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.655000	0.83696	1.851000	0.53745	0.486000	0.48141	.		PASS	0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Intron	7	47	7	47	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165475	50165475	+	RNA	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:50165475C>A	ENST00000376025.2	-	0	865							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.S65I(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCTACAGCTGCTTTCTGCCAC	0.463																																						uc010njr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(805-807)AGC>ATC		diacylglycerol kinase kappa							88.0	83.0	85.0					X																	50165475		1894	4117	6011			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165475C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165475C>A							p.S269I	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			3	866	-	Ovarian(276;0.236)		269			PH.		B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.806G>T																																																																																					PASS	0.463	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		6	100	6	100	---	---	---	---
GPR173	54328	broad.mit.edu	37	X	53106694	53106694	+	Silent	SNP	C	C	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:53106694C>A	ENST00000332582.4	+	2	1382	c.891C>A	c.(889-891)ctC>ctA	p.L297L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	297					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.L297L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						TCTTTCTGCTCCTCTGGTCAC	0.597																																						uc004dru.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(889-891)CTC>CTA		G protein-coupled receptor 173							120.0	73.0	89.0					X																	53106694		2203	4300	6503	SO:0001819	synonymous_variant	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106694C>A	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.891C>A	X.37:g.53106694C>A							p.L297L	NM_018969	NP_061842	Q9NS66	GP173_HUMAN			2	1149	+			297			Helical; Name=6; (Potential).		B1B0A5	Silent	SNP	ENST00000332582.4	37	c.891C>A	CCDS14349.1																																																																																				PASS	0.597	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		5	36	5	36	---	---	---	---
FGD1	2245	broad.mit.edu	37	X	54472818	54472818	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:54472818G>A	ENST00000375135.3	-	18	3343	c.2610C>T	c.(2608-2610)ctC>ctT	p.L870L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	870	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L870L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGAAGCCAATGAGGGGCAGGC	0.647																																						uc004dtg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2608-2610)CTC>CTT		faciogenital dysplasia protein							26.0	22.0	23.0					X																	54472818		2203	4300	6503	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54472818G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2610C>T	X.37:g.54472818G>A							p.L870L	NM_004463	NP_004454	P98174	FGD1_HUMAN			18	3344	-			870			PH 2.		Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.2610C>T	CCDS14359.1																																																																																				PASS	0.647	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		5	32	5	32	---	---	---	---
MAGED2	10916	broad.mit.edu	37	X	54841172	54841172	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:54841172G>T	ENST00000375068.1	+	11	1583	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D	SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Missense_Mutation_p.E450D|MAGED2_ENST00000218439.4_Missense_Mutation_p.E450D|MAGED2_ENST00000375062.4_Missense_Mutation_p.E365D|MAGED2_ENST00000396224.1_Missense_Mutation_p.E450D|MAGED2_ENST00000375060.1_Missense_Mutation_p.E365D|MAGED2_ENST00000375053.2_Missense_Mutation_p.E450D|MAGED2_ENST00000347546.4_Missense_Mutation_p.E432D			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	450	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)		p.E450D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CTTACTATGAGACCAGCAAGA	0.532																																						uc004dtk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1348-1350)GAG>GAT		melanoma antigen family D, 2							74.0	62.0	66.0					X																	54841172		2203	4300	6503	SO:0001583	missense	10916							g.chrX:54841172G>T	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1350G>T	X.37:g.54841172G>T	ENSP00000364209:p.Glu450Asp					MAGED2_uc004dtl.1_Missense_Mutation_p.E450D|MAGED2_uc004dtm.1_Missense_Mutation_p.E365D|MAGED2_uc010nkc.1_Missense_Mutation_p.R415I|MAGED2_uc004dtn.1_Missense_Mutation_p.E450D|MAGED2_uc004dto.1_Missense_Mutation_p.E424D	p.E450D	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN			11	1444	+			450			MAGE.		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.1350G>T	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176339	0.57692	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8	4.32	2.52	0.30459	.	0.000000	0.44097	D	0.000499	T	0.53932	0.1827	M	0.92077	3.27	0.38734	D	0.953747	D;D	0.89917	1.0;0.999	D;D	0.85130	0.992;0.997	T	0.60239	-0.7302	10	0.87932	D	0	.	6.683	0.23131	0.3201:0.0:0.6799:0.0	.	365;450	Q5H907;Q9UNF1	.;MAGD2_HUMAN	D	450;450;394;432;365;450;450;365;450	ENSP00000364209:E450D;ENSP00000364193:E450D;ENSP00000336962:E394D;ENSP00000340290:E432D;ENSP00000364202:E365D;ENSP00000218439:E450D;ENSP00000364198:E450D;ENSP00000364200:E365D;ENSP00000379526:E450D	ENSP00000218439:E450D	E	+	3	2	MAGED2	54857897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.110000	0.31147	0.919000	0.36945	0.513000	0.50165	GAG		PASS	0.532	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		5	65	5	65	---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57935713	57935713	+	Missense_Mutation	SNP	C	C	A	rs370655010		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:57935713C>A	ENST00000358697.4	-	1	1354	c.1142G>T	c.(1141-1143)aGc>aTc	p.S381I		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	381	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S381I(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTCGAAGTGGCTGCGCTGGTG	0.567													C|||	2	0.000529801	0.0	0.0	3775	,	,		14336	0.002		0.0	False		,,,				2504	0.0					uc004dve.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1141-1143)AGC>ATC		zinc finger, X-linked, duplicated A							111.0	100.0	104.0					X																	57935713		2203	4300	6503	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935713C>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1142G>T	X.37:g.57935713C>A	ENSP00000351530:p.Ser381Ile						p.S381I	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1355	-			381			C2H2-type 4.|Required for interaction with ZXDC.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.1142G>T	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	11.13	1.548249	0.27652	.	.	ENSG00000198205	ENST00000358697	T	0.36520	1.25	3.45	1.53	0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.278274	0.41823	D	0.000818	T	0.21347	0.0514	N	0.02736	-0.51	0.34607	D	0.717169	P	0.48350	0.909	P	0.55222	0.771	T	0.25537	-1.0129	9	.	.	.	.	5.3483	0.16022	0.4097:0.3921:0.1982:0.0	.	381	P98168	ZXDA_HUMAN	I	381	ENSP00000351530:S381I	.	S	-	2	0	ZXDA	57952438	0.998000	0.40836	0.999000	0.59377	0.911000	0.54048	0.412000	0.21131	0.257000	0.21650	-0.600000	0.04104	AGC		PASS	0.567	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		20	115	20	115	---	---	---	---
AR	367	broad.mit.edu	37	X	66766199	66766199	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:66766199C>T	ENST00000374690.3	+	1	1735	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	AR_ENST00000504326.1_Missense_Mutation_p.A404V|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.A404V	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	402	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A404V(1)|p.A214V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GCTGCGGCGGCGCAGTGCCGC	0.736									Androgen Insensitivity Syndrome																													uc004dwu.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(1210-1212)GCG>GTG		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						3.0	4.0	3.0					X																	66766199		1907	3732	5639	SO:0001583	missense	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66766199C>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1211C>T	X.37:g.66766199C>T	ENSP00000363822:p.Ala404Val					AR_uc011mpd.1_Missense_Mutation_p.A404V|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.A404V	p.A404V	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	2326	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	402			Modulating.|Poly-Ala.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.1211C>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	12.95	2.090667	0.36855	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95588	-3.75;-3.75;-3.75	5.06	5.06	0.68205	.	0.611503	0.16319	N	0.219666	D	0.96611	0.8894	M	0.80508	2.5	0.09310	N	1	P;P;D	0.63880	0.613;0.814;0.993	B;B;P	0.55345	0.259;0.34;0.774	D	0.92255	0.5812	10	0.45353	T	0.12	.	12.519	0.56048	0.0:1.0:0.0:0.0	.	404;404;402	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	V	214;404;404;404;396	ENSP00000363822:A404V;ENSP00000421155:A404V;ENSP00000379359:A404V	ENSP00000363822:A404V	A	+	2	0	AR	66682924	0.122000	0.22280	0.029000	0.17559	0.490000	0.33462	2.149000	0.42244	2.349000	0.79799	0.509000	0.49947	GCG		PASS	0.736	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	6	3	6	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70328193	70328193	+	Silent	SNP	C	C	T	rs148001866		TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:70328193C>T	ENST00000374202.2	-	7	949	c.858G>A	c.(856-858)acG>acA	p.T286T	IL2RG_ENST00000456850.2_Silent_p.T96T|CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_Silent_p.T15T	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	286					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)	p.T286T(4)		breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TTCGGGGCATCGTCCTGACAG	0.463									Severe Combined Immunodeficiency, X-linked				C|||	5	0.0013245	0.0	0.0	3775	,	,		15319	0.0		0.005	False		,,,				2504	0.0					uc004dyw.1																			4	Substitution - coding silent(4)		prostate(2)|lung(2)	pancreas(1)	1						c.(856-858)ACG>ACA		interleukin 2 receptor, gamma precursor	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	C		0,3835		0,0,1632,571	104.0	88.0	93.0		858	-8.0	0.1	X	dbSNP_134	93	1,6727		0,1,2427,1872	no	coding-synonymous	IL2RG	NM_000206.2		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		286/370	70328193	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	3561	Severe_Combined_Immunodeficiency_X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70328193C>T	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.858G>A	X.37:g.70328193C>T						CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Silent_p.T15T|IL2RG_uc004dyx.1_Silent_p.T96T	p.T286T	NM_000206	NP_000197	P31785	IL2RG_HUMAN			7	872	-	Renal(35;0.156)		286			Box 1 motif.|Cytoplasmic (Potential).		Q5FC12	Silent	SNP	ENST00000374202.2	37	c.858G>A	CCDS14406.1																																																																																				PASS	0.463	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			5	87	5	87	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73043423	73043423	+	lincRNA	SNP	T	T	C			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:73043423T>C	ENST00000604411.1	+	0	31384				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CCTTTACTTCTGTAGGCCAGG	0.378																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							81.0	77.0	78.0					X																	73043423		876	1991	2867			9383							g.chrX:73043423T>C			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043423T>C						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.31384T>C																																																																																					PASS	0.378	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		15	102	15	102	---	---	---	---
MAGT1	84061	broad.mit.edu	37	X	77150848	77150848	+	Silent	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:77150848G>T	ENST00000373336.3	-	1	89	c.60C>A	c.(58-60)atC>atA	p.I20I	MAGT1_ENST00000358075.6_Silent_p.I52I			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	20					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.I20I(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CGTCGCAAACGATGAGCAGCG	0.557																																						uc004fof.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(154-156)ATC>ATA		magnesium transporter 1							142.0	94.0	110.0					X																	77150848		2203	4296	6499	SO:0001819	synonymous_variant	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77150848G>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.60C>A	X.37:g.77150848G>T						MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Silent_p.I52I	p.I52I	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			1	218	-			20					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000373336.3	37	c.156C>A																																																																																					PASS	0.557	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		6	42	6	42	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	80064747	80064747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:80064747G>A	ENST00000373275.4	-	2	304	c.88C>T	c.(88-90)Cag>Tag	p.Q30*		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	30					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.Q30*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCCCTTACCTGAGCGGATTTG	0.557																																						uc004edt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(88-90)CAG>TAG		bromodomain and WD repeat domain containing 3							67.0	48.0	54.0					X																	80064747		2202	4298	6500	SO:0001587	stop_gained	254065							g.chrX:80064747G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.88C>T	X.37:g.80064747G>A	ENSP00000362372:p.Gln30*					BRWD3_uc004edo.2_5'Flank|BRWD3_uc004edp.2_5'Flank|BRWD3_uc004edq.2_5'Flank|BRWD3_uc010nmj.1_5'Flank|BRWD3_uc004edr.2_5'Flank|BRWD3_uc004eds.2_5'Flank|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_5'UTR	p.Q30*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			2	351	-			30					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	c.88C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000355	0.93227	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.3904	12.7464	0.57283	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	.	Q	-	1	0	BRWD3	79951403	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	4.229000	0.58625	2.505000	0.84491	0.600000	0.82982	CAG		PASS	0.557	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		4	14	4	14	---	---	---	---
TCEAL3	85012	broad.mit.edu	37	X	102864065	102864065	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:102864065G>A	ENST00000372628.1	+	3	431	c.73G>A	c.(73-75)Gat>Aat	p.D25N	TCEAL3_ENST00000372627.5_Missense_Mutation_p.D25N|TCEAL3_ENST00000243286.3_Missense_Mutation_p.D25N|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	25	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D25N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						agtagagcctgatgatgaagg	0.488																																						uc004ekq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)GAT>AAT		transcription elongation factor A (SII)-like 3							111.0	90.0	97.0					X																	102864065		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864065G>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.73G>A	X.37:g.102864065G>A	ENSP00000361711:p.Asp25Asn					TCEAL3_uc004ekr.2_Missense_Mutation_p.D25N	p.D25N	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN			3	335	+			25			Glu-rich.		D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.73G>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250584	0.39797	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.22134	1.97;1.97;1.97	3.62	3.62	0.41486	.	0.410649	0.17989	N	0.155273	T	0.14960	0.0361	N	0.22421	0.69	0.22305	N	0.999214	B	0.31413	0.322	B	0.34301	0.179	T	0.15178	-1.0446	10	0.44086	T	0.13	.	9.8733	0.41189	0.0:0.0:1.0:0.0	.	25	Q969E4	TCAL3_HUMAN	N	25	ENSP00000361711:D25N;ENSP00000361710:D25N;ENSP00000243286:D25N	ENSP00000243286:D25N	D	+	1	0	TCEAL3	102750721	0.999000	0.42202	0.977000	0.42913	0.308000	0.27856	2.142000	0.42177	2.080000	0.62538	0.538000	0.68166	GAT		PASS	0.488	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		10	30	10	30	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108719118	108719118	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:108719118C>T	ENST00000218006.2	-	2	339	c.48G>A	c.(46-48)gcG>gcA	p.A16A		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	16					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.A16A(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCCTGAAAGCCGCAAACCAGA	0.542											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004eod.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(46-48)GCG>GCA		guanylate cyclase 2F precursor							75.0	70.0	72.0					X																	108719118		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108719118C>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.48G>A	X.37:g.108719118C>T			OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414	GUCY2F_uc011msq.1_RNA	p.A16A	NM_001522	NP_001513	P51841	GUC2F_HUMAN			2	324	-			16					Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.48G>A	CCDS14545.1																																																																																				PASS	0.542	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		16	87	16	87	---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	109937485	109937485	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:109937485C>T	ENST00000372045.1	-	8	794	c.663G>A	c.(661-663)ggG>ggA	p.G221G	CHRDL1_ENST00000434224.1_Silent_p.G148G|CHRDL1_ENST00000372042.1_Silent_p.G228G|CHRDL1_ENST00000482160.1_Silent_p.G148G|CHRDL1_ENST00000444321.2_Silent_p.G227G|CHRDL1_ENST00000394797.4_Silent_p.G227G|CHRDL1_ENST00000218054.4_Silent_p.G227G			Q9BU40	CRDL1_HUMAN	chordin-like 1	221					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.G227G(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GACTTCTGGCCCCAGGAAAGC	0.478																																						uc004eou.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(682-684)GGG>GGA		chordin-like 1 isoform 1 precursor							114.0	104.0	107.0					X																	109937485		2203	4300	6503	SO:0001819	synonymous_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109937485C>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.663G>A	X.37:g.109937485C>T						CHRDL1_uc004eov.2_Silent_p.G222G|CHRDL1_uc004eow.2_Silent_p.G227G|CHRDL1_uc010nps.2_Silent_p.G227G|CHRDL1_uc004eot.2_Silent_p.G148G|CHRDL1_uc011mss.1_Silent_p.G142G	p.G228G	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			8	1033	-			221					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37	c.684G>A																																																																																					PASS	0.478	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		32	139	32	139	---	---	---	---
LHFPL1	340596	broad.mit.edu	37	X	111914294	111914294	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:111914294C>T	ENST00000371968.3	-	2	564	c.325G>A	c.(325-327)Gag>Aag	p.E109K	LHFPL1_ENST00000536453.1_Missense_Mutation_p.E109K|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	109						integral component of membrane (GO:0016021)		p.E109K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						ATGAGCTCCTCCATGCAGCAA	0.582																																						uc004epq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GAG>AAG		lipoma HMGIC fusion partner-like 1 precursor							85.0	65.0	71.0					X																	111914294		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914294C>T	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.325G>A	X.37:g.111914294C>T	ENSP00000361036:p.Glu109Lys					LHFPL1_uc004epp.2_Missense_Mutation_p.E132K|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.E109K	p.E109K	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN			2	658	-			109					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.325G>A	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	C	8.218	0.801932	0.16397	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.71934	-0.61;-0.61	5.29	5.29	0.74685	.	0.186799	0.47455	D	0.000222	T	0.41119	0.1145	N	0.02916	-0.46	0.32420	N	0.549509	B;B	0.11235	0.001;0.004	B;B	0.11329	0.005;0.006	T	0.46456	-0.9190	10	0.09338	T	0.73	-39.1955	8.6594	0.34084	0.0:0.8984:0.0:0.1016	.	109;109	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	K	109	ENSP00000361036:E109K;ENSP00000444573:E109K	ENSP00000361036:E109K	E	-	1	0	LHFPL1	111800950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.161000	0.42358	2.456000	0.83038	0.600000	0.82982	GAG		PASS	0.582	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		14	68	14	68	---	---	---	---
TMEM255A	55026	broad.mit.edu	37	X	119410745	119410745	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:119410745C>T	ENST00000309720.5	-	8	865	c.742G>A	c.(742-744)Gac>Aac	p.D248N	TMEM255A_ENST00000371369.4_Missense_Mutation_p.D224N|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.D84N	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	248						integral component of membrane (GO:0016021)		p.D248N(1)									CTTACCATGTCCTTAAAGCCT	0.502																																						uc004eso.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(742-744)GAC>AAC		hypothetical protein LOC55026 isoform 1							136.0	100.0	112.0					X																	119410745		2203	4300	6503	SO:0001583	missense	55026					integral to membrane		g.chrX:119410745C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.742G>A	X.37:g.119410745C>T	ENSP00000310110:p.Asp248Asn					FAM70A_uc004esp.3_Missense_Mutation_p.D224N|FAM70A_uc010nqo.2_Intron	p.D248N	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			8	969	-			248					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.742G>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207763	0.95033	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.59906	0.23;0.23;0.23	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.993;0.997	T	0.82147	-0.0601	10	0.72032	D	0.01	-16.2322	16.7868	0.85576	0.0:1.0:0.0:0.0	.	224;248	B1APR4;Q5JRV8	.;FA70A_HUMAN	N	248;224;84	ENSP00000310110:D248N;ENSP00000360420:D224N;ENSP00000360403:D84N	ENSP00000310110:D248N	D	-	1	0	FAM70A	119294773	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.168000	0.68352	0.594000	0.82650	GAC		PASS	0.502	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		9	95	9	95	---	---	---	---
ATP1B4	23439	broad.mit.edu	37	X	119504619	119504619	+	Silent	SNP	G	G	A			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:119504619G>A	ENST00000218008.3	+	3	435	c.378G>A	c.(376-378)gtG>gtA	p.V126V	ATP1B4_ENST00000361319.3_Silent_p.V122V|ATP1B4_ENST00000539306.1_Intron	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	126					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.V122V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGGCTGCTGTGATCACCCTCT	0.502																																						uc004esr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(376-378)GTG>GTA		ATPase, (Na+)/K+ transporting, beta 4							408.0	319.0	349.0					X																	119504619		2203	4300	6503	SO:0001819	synonymous_variant	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119504619G>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.378G>A	X.37:g.119504619G>A						ATP1B4_uc004esq.2_Silent_p.V122V|ATP1B4_uc011mtx.1_Silent_p.V91V|ATP1B4_uc011mty.1_Intron	p.V126V	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			3	462	+			126			Helical; Signal-anchor for type II membrane protein; (Potential).		Q17RR0|Q9UN41	Silent	SNP	ENST00000218008.3	37	c.378G>A	CCDS48158.1																																																																																				PASS	0.502	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		12	376	12	376	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140985257	140985257	+	Silent	SNP	G	G	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:140985257G>T	ENST00000298296.1	+	7	1713	c.1713G>T	c.(1711-1713)gtG>gtT	p.V571V	MAGEC3_ENST00000544766.1_Silent_p.V273V|MAGEC3_ENST00000443323.2_Silent_p.V193V|MAGEC3_ENST00000409007.1_Silent_p.V273V|MAGEC3_ENST00000536088.1_Silent_p.V273V	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	571	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V273V(2)|p.V571V(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGGAAGTGTTGAGTGCAA	0.493																																						uc011mwp.1																			4	Substitution - coding silent(4)		lung(4)	skin(2)|central_nervous_system(1)	3						c.(1711-1713)GTG>GTT		melanoma antigen family C, 3 isoform 1							106.0	100.0	102.0					X																	140985257		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985257G>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1713G>T	X.37:g.140985257G>T						MAGEC3_uc004fbs.2_Silent_p.V273V|MAGEC3_uc010nsj.2_Silent_p.V273V	p.V571V	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			7	1713	+	Acute lymphoblastic leukemia(192;6.56e-05)		571			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1713G>T	CCDS14676.1																																																																																				PASS	0.493	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		23	184	23	184	---	---	---	---
RPL10	6134	broad.mit.edu	37	X	153628196	153628196	+	Silent	SNP	C	C	T			TCGA-39-5024-01A-21D-1817-08	TCGA-39-5024-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	388478e9-8c1f-43f8-88c4-811bf3cc2500	829ea6e6-1737-4fc6-8732-65e2d7fb2582	g.chrX:153628196C>T	ENST00000369817.2	+	6	819	c.243C>T	c.(241-243)ggC>ggT	p.G81G	RPL10_ENST00000424325.2_Silent_p.G81G|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Silent_p.G30G			P27635	RL10_HUMAN	ribosomal protein L10	81					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G81G(1)		large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGTTGTGGCAAAGATGGCT	0.507																																						uc004fkm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)GGC>GGT		ribosomal protein L10							74.0	68.0	70.0					X																	153628196		2203	4297	6500	SO:0001819	synonymous_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153628196C>T	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.243C>T	X.37:g.153628196C>T						uc010nuv.1_5'Flank|RPL10_uc004fko.2_Silent_p.G81G|RPL10_uc004fkn.1_Silent_p.G81G|RPL10_uc004fkp.1_Silent_p.G81G|RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_Silent_p.G6G|SNORA70_uc010nux.1_5'Flank	p.G81G	NM_006013	NP_006004	P27635	RL10_HUMAN			5	431	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		81					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Silent	SNP	ENST00000369817.2	37	c.243C>T	CCDS14746.1																																																																																				PASS	0.507	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		14	110	14	110	---	---	---	---
