#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
CEP104	9731	broad.mit.edu	37	1	3756192	3756192	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:3756192C>A	ENST00000378230.3	-	7	1039	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	239						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.A239S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TCAGCAATGGCTTGTTTTAGT	0.353																																						uc001aky.2																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)GCC>TCC		glycine-, glutamate-,							173.0	169.0	170.0					1																	3756192		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3756192C>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.715G>T	1.37:g.3756192C>A	ENSP00000367476:p.Ala239Ser					KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.A239S	p.A239S	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	7	1074	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	239			Potential.		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.715G>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756137	0.89843	.	.	ENSG00000116198	ENST00000378230;ENST00000428079	T	0.37584	1.19	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.62368	0.2422	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	T	0.65001	-0.6274	10	0.49607	T	0.09	.	17.4113	0.87486	0.0:1.0:0.0:0.0	.	239;239	O60308-3;O60308	.;CE104_HUMAN	S	239;181	ENSP00000367476:A239S	ENSP00000367476:A239S	A	-	1	0	CEP104	3746052	1.000000	0.71417	0.859000	0.33776	0.953000	0.61014	7.344000	0.79328	2.346000	0.79739	0.561000	0.74099	GCC		PASS	0.353	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		23	125	23	125	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12378287	12378287	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:12378287G>A	ENST00000358136.3	+	31	7437	c.7307G>A	c.(7306-7308)aGc>aAc	p.S2436N	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2436N	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.S2436N(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AACTCTAGCAGCGAATCTGCT	0.443																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(7306-7308)AGC>AAC		vacuolar protein sorting 13D isoform 1							135.0	130.0	132.0					1																	12378287		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12378287G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7307G>A	1.37:g.12378287G>A	ENSP00000350854:p.Ser2436Asn					VPS13D_uc001atw.2_Missense_Mutation_p.S2436N|VPS13D_uc001atx.2_Missense_Mutation_p.S1624N|VPS13D_uc001aty.1_Missense_Mutation_p.S174N	p.S2436N	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	31	7448	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2436						Missense_Mutation	SNP	ENST00000358136.3	37	c.7307G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.555319|2.555319	0.45487|0.45487	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.51817	.|0.69;0.69	5.53|5.53	4.61|4.61	0.57282|0.57282	.|.	.|0.233636	.|0.48286	.|N	.|0.000200	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.16166	.|0.001;0.016;0.0	.|B;B;B	.|0.16289	.|0.003;0.015;0.002	T|T	0.07731|0.07731	-1.0757|-1.0757	5|10	.|0.15066	.|T	.|0.55	.|.	11.1058|11.1058	0.48201|0.48201	0.1436:0.0:0.8564:0.0|0.1436:0.0:0.8564:0.0	.|.	.|343;2436;2436	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	T|N	1259|2436	.|ENSP00000348666:S2436N;ENSP00000350854:S2436N	.|ENSP00000348666:S2436N	A|S	+|+	1|2	0|0	VPS13D|VPS13D	12300874|12300874	0.544000|0.544000	0.26441|0.26441	0.635000|0.635000	0.29338|0.29338	0.692000|0.692000	0.40212|0.40212	3.619000|3.619000	0.54196|0.54196	1.450000|1.450000	0.47717|0.47717	0.563000|0.563000	0.77884|0.77884	GCG|AGC		PASS	0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		4	137	4	137	---	---	---	---
COL16A1	1307	broad.mit.edu	37	1	32148971	32148971	+	Splice_Site	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:32148971C>T	ENST00000373672.3	-	35	2896		c.e35-1		COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.?(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGGCTCCCCCTGCAAGTCAG	0.627																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			1	Unknown(1)		lung(1)	ovary(8)	8						c.e35-1		alpha 1 type XVI collagen precursor							92.0	110.0	104.0					1																	32148971		1980	4141	6121	SO:0001630	splice_region_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32148971C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2380-1G>A	1.37:g.32148971C>T						COL16A1_uc001btj.1_Splice_Site_p.G623_splice|COL16A1_uc001btl.3_Splice_Site_p.G794_splice	p.G794_splice	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	35	2745	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)						Q16593|Q59F89|Q71RG9	Splice_Site	SNP	ENST00000373672.3	37	c.2380_splice	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975345	0.74360	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9109	0.70755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL16A1	31921558	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.952000	0.49097	2.666000	0.90696	0.563000	0.77884	.		PASS	0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Intron	12	180	12	180	---	---	---	---
ANKRD34A	284615	broad.mit.edu	37	1	145474029	145474029	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:145474029C>T	ENST00000323397.4	+	4	1994	c.701C>T	c.(700-702)cCa>cTa	p.P234L	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	234	Pro-rich.					cytoplasm (GO:0005737)		p.P234L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCCCCAAACCACCACGCCAT	0.627																																						uc001enq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)CCA>CTA		ankyrin repeat domain 34							70.0	82.0	78.0					1																	145474029		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145474029C>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.701C>T	1.37:g.145474029C>T	ENSP00000314103:p.Pro234Leu					NBPF10_uc001emp.3_Intron	p.P234L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1994	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		234			Pro-rich.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.701C>T	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	c	11.02	1.517157	0.27123	.	.	ENSG00000181039	ENST00000323397	T	0.71461	-0.57	4.94	4.94	0.65067	.	1.358490	0.04714	N	0.418142	T	0.50343	0.1610	L	0.34521	1.04	0.49915	D	0.999837	B	0.14012	0.009	B	0.12837	0.008	T	0.01688	-1.1295	10	0.23302	T	0.38	-6.0029	15.7826	0.78272	0.0:1.0:0.0:0.0	.	234	Q69YU3	AN34A_HUMAN	L	234	ENSP00000314103:P234L	ENSP00000314103:P234L	P	+	2	0	ANKRD34A	144185386	0.991000	0.36638	0.999000	0.59377	0.794000	0.44872	2.982000	0.49337	2.585000	0.87301	0.574000	0.79327	CCA		PASS	0.627	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			5	76	5	76	---	---	---	---
LCE3E	353145	broad.mit.edu	37	1	152538557	152538557	+	Missense_Mutation	SNP	C	C	A	rs202162896	byFrequency	TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:152538557C>A	ENST00000368789.1	-	2	183	c.128G>T	c.(127-129)gGc>gTc	p.G43V		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	43					keratinization (GO:0031424)			p.G43V(1)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		AGGGCCACAGCCCCCAGAGCT	0.657																																						uc001faa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(127-129)GGC>GTC		late cornified envelope 3E							42.0	49.0	47.0					1																	152538557		2203	4296	6499	SO:0001583	missense	353145				keratinization			g.chr1:152538557C>A		CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"""Late cornified envelopes"""	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.128G>T	1.37:g.152538557C>A	ENSP00000357778:p.Gly43Val						p.G43V	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)	2	184	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		43					A2RRM6	Missense_Mutation	SNP	ENST00000368789.1	37	c.128G>T	CCDS1013.1	.	.	.	.	.	.	.	.	.	.	C	6.607	0.480295	0.12581	.	.	ENSG00000185966	ENST00000368789	T	0.03982	3.74	3.59	3.59	0.41128	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	T	0.02909	-1.1095	8	0.40728	T	0.16	.	10.8657	0.46853	0.0:1.0:0.0:0.0	.	43	Q5T5B0	LCE3E_HUMAN	V	43	ENSP00000357778:G43V	ENSP00000357778:G43V	G	-	2	0	LCE3E	150805181	0.292000	0.24362	0.974000	0.42286	0.325000	0.28411	0.533000	0.23082	1.988000	0.58038	0.585000	0.79938	GGC		PASS	0.657	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435		7	66	7	66	---	---	---	---
CRABP2	1382	broad.mit.edu	37	1	156670390	156670390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:156670390C>A	ENST00000368222.3	-	3	464	c.310G>T	c.(310-312)Gag>Tag	p.E104*	CRABP2_ENST00000368221.1_Nonsense_Mutation_p.E104*	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	104					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.E104*(1)		endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	TTGGGGCCCTCTCCCTTCAGG	0.552																																						uc001fpr.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(310-312)GAG>TAG		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)						101.0	86.0	91.0					1																	156670390		2203	4300	6503	SO:0001587	stop_gained	1382				epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	g.chr1:156670390C>A	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"""Fatty acid binding protein family"""	2339	protein-coding gene	gene with protein product		180231	"""cellular retinoic acid-binding protein 2"""			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.310G>T	1.37:g.156670390C>A	ENSP00000357205:p.Glu104*						p.E104*	NM_001878	NP_001869	P29373	RABP2_HUMAN			3	447	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		104					B2R4Z8|D3DVC5|F1T098|Q6ICN6	Nonsense_Mutation	SNP	ENST00000368222.3	37	c.310G>T	CCDS1152.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244628	0.95272	.	.	ENSG00000143320	ENST00000368222;ENST00000368221	.	.	.	4.98	4.03	0.46877	.	0.210758	0.48767	D	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.551	0.56225	0.1662:0.8338:0.0:0.0	.	.	.	.	X	104	.	ENSP00000357204:E104X	E	-	1	0	CRABP2	154937014	0.998000	0.40836	0.997000	0.53966	0.993000	0.82548	3.760000	0.55235	2.319000	0.78375	0.561000	0.74099	GAG		PASS	0.552	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	NM_001878		12	89	12	89	---	---	---	---
CD1A	909	broad.mit.edu	37	1	158226635	158226635	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:158226635G>C	ENST00000289429.5	+	4	1197	c.664G>C	c.(664-666)Gtg>Ctg	p.V222L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	222	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.V222L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TCTGCAGCTTGTGTGCCATGT	0.582																																						uc001frt.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(664-666)GTG>CTG		CD1A antigen precursor	Antithymocyte globulin(DB00098)						80.0	77.0	78.0					1																	158226635		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226635G>C	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.664G>C	1.37:g.158226635G>C	ENSP00000289429:p.Val222Leu						p.V222L	NM_001763	NP_001754	P06126	CD1A_HUMAN			4	1197	+	all_hematologic(112;0.0378)		222			Extracellular (Potential).|Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.664G>C	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137110	0.37728	.	.	ENSG00000158477	ENST00000289429	T	0.03242	4.0	3.84	0.636	0.17729	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.37053	N	0.002270	T	0.02193	0.0068	M	0.67569	2.06	0.19775	N	0.999959	P	0.36110	0.537	B	0.43052	0.406	T	0.37753	-0.9692	10	0.72032	D	0.01	-10.6102	3.6842	0.08321	0.2376:0.2075:0.5549:0.0	.	222	P06126	CD1A_HUMAN	L	222	ENSP00000289429:V222L	ENSP00000289429:V222L	V	+	1	0	CD1A	156493259	0.628000	0.27138	0.351000	0.25721	0.341000	0.28922	0.145000	0.16157	0.404000	0.25506	0.491000	0.48974	GTG		PASS	0.582	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		13	87	13	87	---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160607107	160607107	+	Nonsense_Mutation	SNP	T	T	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:160607107T>A	ENST00000302035.6	-	2	638	c.289A>T	c.(289-291)Aag>Tag	p.K97*	SLAMF1_ENST00000538290.1_Nonsense_Mutation_p.K97*|SLAMF1_ENST00000235739.5_Nonsense_Mutation_p.K97*|SLAMF1_ENST00000355199.3_Nonsense_Mutation_p.K97*	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	97	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.K97*(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGATAAAACTTGTAGCGATCT	0.478																																						uc001fwl.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(289-291)AAG>TAG		signaling lymphocytic activation molecule family							140.0	130.0	133.0					1																	160607107		2203	4300	6503	SO:0001587	stop_gained	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607107T>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.289A>T	1.37:g.160607107T>A	ENSP00000306190:p.Lys97*					SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Nonsense_Mutation_p.K97*	p.K97*	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	635	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		97			Extracellular (Potential).		Q5W172|Q9HBE8	Nonsense_Mutation	SNP	ENST00000302035.6	37	c.289A>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068192	0.36470	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	.	.	.	4.19	0.724	0.18236	.	1.378860	0.04197	N	0.329400	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.5347	5.1266	0.14888	0.0:0.1257:0.3402:0.5341	.	.	.	.	X	97	.	ENSP00000235739:K97X	K	-	1	0	SLAMF1	158873731	0.005000	0.15991	0.115000	0.21578	0.263000	0.26337	-0.060000	0.11712	0.123000	0.18342	0.402000	0.26972	AAG		PASS	0.478	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			19	110	19	110	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176740282	176740282	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:176740282T>A	ENST00000367662.3	+	17	5845	c.4681T>A	c.(4681-4683)Tat>Aat	p.Y1561N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1561	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y1561N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACCAGGGTACTATGTGGCAGA	0.473																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4681-4683)TAT>AAT		pappalysin 2 isoform 1							93.0	87.0	89.0					1																	176740282		2006	4176	6182	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176740282T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4681T>A	1.37:g.176740282T>A	ENSP00000356634:p.Tyr1561Asn					PAPPA2_uc009www.2_RNA	p.Y1561N	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			17	5845	+			1561			Sushi 3.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4681T>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144122	0.57044	.	.	ENSG00000116183	ENST00000367662	T	0.64803	-0.12	5.53	4.41	0.53225	Complement control module (2);Sushi/SCR/CCP (3);	0.138838	0.50627	D	0.000105	T	0.59321	0.2185	M	0.62723	1.935	0.80722	D	1	P	0.37731	0.607	B	0.42593	0.392	T	0.63717	-0.6574	10	0.62326	D	0.03	-23.3805	5.4397	0.16500	0.0:0.2325:0.0:0.7675	.	1561	Q9BXP8	PAPP2_HUMAN	N	1561	ENSP00000356634:Y1561N	ENSP00000356634:Y1561N	Y	+	1	0	PAPPA2	175006905	1.000000	0.71417	0.992000	0.48379	0.451000	0.32288	2.213000	0.42844	2.096000	0.63516	0.533000	0.62120	TAT		PASS	0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			10	58	10	58	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183543638	183543638	+	Missense_Mutation	SNP	G	G	T	rs376994104		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:183543638G>T	ENST00000367535.3	-	4	736	c.485C>A	c.(484-486)gCg>gAg	p.A162E	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Missense_Mutation_p.A162E|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	162					aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.A162E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACACTCCATCGCCTTGTCGAT	0.463																																						uc001gqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(484-486)GCG>GAG		neutrophil cytosolic factor 2							341.0	309.0	320.0					1																	183543638		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183543638G>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.485C>A	1.37:g.183543638G>T	ENSP00000356505:p.Ala162Glu					NCF2_uc010pod.1_Intron|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.A162E	p.A162E	NM_000433	NP_000424	P19878	NCF2_HUMAN			4	760	-			162					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.485C>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972706	0.92919	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000367535	T;T	0.66995	-0.24;-0.24	5.32	5.32	0.75619	Tetratricopeptide-like helical (1);	0.046930	0.85682	D	0.000000	D	0.85712	0.5760	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88348	0.2979	10	0.87932	D	0	-6.3683	19.3483	0.94374	0.0:0.0:1.0:0.0	.	162	P19878	NCF2_HUMAN	E	162;190;162	ENSP00000356506:A162E;ENSP00000356505:A162E	ENSP00000356505:A162E	A	-	2	0	NCF2	181810261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.316000	0.89985	2.647000	0.89833	0.655000	0.94253	GCG		PASS	0.463	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		27	245	27	245	---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202317984	202317984	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:202317984C>T	ENST00000608999.1	+	1	158	c.5C>T	c.(4-6)gCg>gTg	p.A2V	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A2V|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A2V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A2V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	2					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.A2V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGAGCAATGGCGGAACTGGAG	0.652																																						uc001gya.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4-6)GCG>GTG		protein phosphatase 1, regulatory (inhibitor)							16.0	23.0	21.0					1																	202317984		2171	4215	6386	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202317984C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.5C>T	1.37:g.202317984C>T	ENSP00000476755:p.Ala2Val					PPP1R12B_uc001gxy.2_Missense_Mutation_p.A2V|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.A2V|PPP1R12B_uc001gxz.1_Missense_Mutation_p.A2V	p.A2V	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		1	149	+			2					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.5C>T	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223559	0.79576	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.70399	0.98;0.99;-0.48;-0.37	5.0	5.0	0.66597	.	0.000000	0.48286	D	0.000181	T	0.67306	0.2879	L	0.36672	1.1	0.80722	D	1	D;P;D;P	0.54047	0.964;0.94;0.964;0.94	B;B;P;B	0.47075	0.275;0.335;0.536;0.335	T	0.70952	-0.4732	10	0.56958	D	0.05	.	15.3258	0.74160	0.0:1.0:0.0:0.0	.	2;2;2;2	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	V	2	ENSP00000384496:A2V;ENSP00000337897:A2V;ENSP00000417159:A2V;ENSP00000349206:A2V	ENSP00000337897:A2V	A	+	2	0	PPP1R12B	200584607	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.515000	0.45512	2.587000	0.87381	0.655000	0.94253	GCG		PASS	0.652	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		9	60	9	60	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237872358	237872358	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr1:237872358G>T	ENST00000366574.2	+	69	10419	c.10102G>T	c.(10102-10104)Gcc>Tcc	p.A3368S	RYR2_ENST00000542537.1_Missense_Mutation_p.A3352S|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.A3366S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3368					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A3366S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGATCTCTATGCCTTCTACCC	0.458																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10102-10104)GCC>TCC		cardiac muscle ryanodine receptor							93.0	91.0	91.0					1																	237872358		1923	4127	6050	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237872358G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10102G>T	1.37:g.237872358G>T	ENSP00000355533:p.Ala3368Ser					RYR2_uc010pxz.1_Missense_Mutation_p.A323S	p.A3368S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		69	10222	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3368					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10102G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761357	0.89932	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97924	-4.61;-4.58;-4.6	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000006	D	0.97977	0.9334	L	0.59912	1.85	0.80722	D	1	D	0.69078	0.997	P	0.59171	0.853	D	0.97742	1.0209	10	0.39692	T	0.17	-11.8547	19.4173	0.94706	0.0:0.0:1.0:0.0	.	3368	Q92736	RYR2_HUMAN	S	3368;3366;3352;323	ENSP00000355533:A3368S;ENSP00000353174:A3366S;ENSP00000443798:A3352S	ENSP00000353174:A3366S	A	+	1	0	RYR2	235938981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.589000	0.87451	0.655000	0.94253	GCC		PASS	0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	44	5	44	---	---	---	---
CPSF3	51692	broad.mit.edu	37	2	9582063	9582063	+	Silent	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:9582063T>C	ENST00000238112.3	+	9	1259	c.1053T>C	c.(1051-1053)ggT>ggC	p.G351G	CPSF3_ENST00000460593.1_Silent_p.G314G	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	351					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.G351G(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGAGGAATGGTGTCATTATAG	0.458																																					Colon(194;1259 2048 3845 5218 19985)	uc002qzo.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1051-1053)GGT>GGC		cleavage and polyadenylation specific factor 3,							214.0	195.0	201.0					2																	9582063		2203	4300	6503	SO:0001819	synonymous_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9582063T>C	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1053T>C	2.37:g.9582063T>C						CPSF3_uc010ewx.1_Silent_p.G351G|CPSF3_uc002qzp.1_Silent_p.G314G	p.G351G	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	9	1088	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	351					O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	c.1053T>C	CCDS1664.1																																																																																				PASS	0.458	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		22	147	22	147	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15760423	15760423	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:15760423G>T	ENST00000381341.2	+	18	1687	c.1298G>T	c.(1297-1299)gGa>gTa	p.G433V	DDX1_ENST00000233084.3_Missense_Mutation_p.G433V			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	433	Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.G433V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GACTTAAAAGGAGAAGACTCT	0.413																																						uc002rce.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1297-1299)GGA>GTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							120.0	114.0	116.0					2																	15760423		2203	4300	6503	SO:0001583	missense	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15760423G>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1298G>T	2.37:g.15760423G>T	ENSP00000370745:p.Gly433Val					DDX1_uc010yjq.1_Missense_Mutation_p.G341V	p.G433V	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	17	1586	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	433			Necessary for interaction with RELA.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.1298G>T	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021937	0.75275	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.45668	0.89;0.89	6.07	6.07	0.98685	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79468	-0.1791	10	0.72032	D	0.01	-22.7227	20.6525	0.99598	0.0:0.0:1.0:0.0	.	433	Q92499	DDX1_HUMAN	V	433;433;417	ENSP00000370745:G433V;ENSP00000233084:G433V	ENSP00000233084:G433V	G	+	2	0	DDX1	15677874	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	GGA		PASS	0.413	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		21	82	21	82	---	---	---	---
OSR1	130497	broad.mit.edu	37	2	19552084	19552084	+	Silent	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:19552084C>G	ENST00000272223.2	-	3	1097	c.753G>C	c.(751-753)acG>acC	p.T251T	OSR1_ENST00000536433.1_Silent_p.T251T	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	251					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T251T(1)		breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GTGAGTGTAGCGTCTTGTGGA	0.507																																						uc002rdc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(751-753)ACG>ACC		odd-skipped related 1							153.0	141.0	145.0					2																	19552084		2203	4300	6503	SO:0001819	synonymous_variant	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19552084C>G	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.753G>C	2.37:g.19552084C>G							p.T251T	NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN			3	1056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	251			C2H2-type 3.		B3KV97|D6W521	Silent	SNP	ENST00000272223.2	37	c.753G>C	CCDS1694.1																																																																																				PASS	0.507	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		10	77	10	77	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32842813	32842813	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:32842813G>A	ENST00000421745.2	+	74	14550	c.14416G>A	c.(14416-14418)Gaa>Aaa	p.E4806K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4806					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.E4778K(1)|p.E4806K(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCAGCTCCGCGAAGAGTTGCT	0.502																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(14416-14418)GAA>AAA		baculoviral IAP repeat-containing 6							107.0	83.0	91.0					2																	32842813		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32842813G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14416G>A	2.37:g.32842813G>A	ENSP00000393596:p.Glu4806Lys						p.E4806K	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			74	14550	+	Acute lymphoblastic leukemia(172;0.155)		4806					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.14416G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383230	0.61845	.	.	ENSG00000115760	ENST00000421745	T	0.78364	-1.17	5.76	4.88	0.63580	Ubiquitin-conjugating enzyme/RWD-like (1);	0.099783	0.64402	D	0.000002	T	0.74238	0.3690	L	0.55213	1.73	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.71576	-0.4551	10	0.62326	D	0.03	.	14.9885	0.71368	0.0686:0.0:0.9314:0.0	.	4806	Q9NR09	BIRC6_HUMAN	K	4806	ENSP00000393596:E4806K	ENSP00000393596:E4806K	E	+	1	0	BIRC6	32696317	1.000000	0.71417	0.892000	0.35008	0.852000	0.48524	9.188000	0.94921	1.435000	0.47434	0.655000	0.94253	GAA		PASS	0.502	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		7	42	7	42	---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39509662	39509662	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:39509662T>C	ENST00000263881.3	-	22	1945	c.1621A>G	c.(1621-1623)Aaa>Gaa	p.K541E	SNORA67_ENST00000516664.1_RNA|MAP4K3_ENST00000341681.5_Missense_Mutation_p.K520E|MAP4K3_ENST00000536018.1_Missense_Mutation_p.K94E|MAP4K3_ENST00000437545.1_Missense_Mutation_p.K457E	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	541					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.K541E(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ACATGCACTTTAGGTGTTGGA	0.328																																						uc002rro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(1621-1623)AAA>GAA		mitogen-activated protein kinase kinase kinase							156.0	152.0	153.0					2																	39509662		2203	4298	6501	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39509662T>C	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1621A>G	2.37:g.39509662T>C	ENSP00000263881:p.Lys541Glu					MAP4K3_uc002rrp.2_Missense_Mutation_p.K520E|MAP4K3_uc010yns.1_Missense_Mutation_p.K94E	p.K541E	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			22	1712	-		all_hematologic(82;0.211)	541					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1621A>G	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055641	0.75960	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.76839	-1.05;-0.89;-1.05;1.91	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	D	0.85596	0.1249	10	0.49607	T	0.09	.	15.1109	0.72355	0.0:0.0:0.0:1.0	.	520;541	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	E	541;457;520;94	ENSP00000263881:K541E;ENSP00000416958:K457E;ENSP00000345434:K520E;ENSP00000440580:K94E	ENSP00000263881:K541E	K	-	1	0	MAP4K3	39363166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.603000	0.61105	1.963000	0.57068	0.533000	0.62120	AAA		PASS	0.328	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		7	80	7	80	---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61019336	61019336	+	Missense_Mutation	SNP	C	C	G	rs149643688		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:61019336C>G	ENST00000238714.3	+	17	1840	c.1591C>G	c.(1591-1593)Ctg>Gtg	p.L531V		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	531					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.L531V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TAGCAGTTGTCTGGATAGCTC	0.433																																					GBM(183;1497 2932 21839 46797)	uc002sai.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1591-1593)CTG>GTG		poly(A) polymerase gamma							82.0	83.0	83.0					2																	61019336		2203	4300	6503	SO:0001583	missense	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61019336C>G	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1591C>G	2.37:g.61019336C>G	ENSP00000238714:p.Leu531Val					PAPOLG_uc002saj.2_Missense_Mutation_p.L220V|PAPOLG_uc002sak.2_Missense_Mutation_p.L66V|PAPOLG_uc010fch.2_Missense_Mutation_p.L220V	p.L531V	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		17	1822	+	all_hematologic(2;0.0797)		531					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	c.1591C>G	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725279	0.68959	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.79	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.66939	2.045	0.48395	D	0.999647	D;D;P	0.76494	0.997;0.999;0.638	D;D;B	0.72625	0.978;0.972;0.15	T	0.65549	-0.6141	9	0.44086	T	0.13	-15.1835	6.7597	0.23534	0.0:0.1597:0.0:0.8403	.	220;65;531	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	V	531;220;199	.	ENSP00000238714:L531V	L	+	1	2	PAPOLG	60872840	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.186000	0.42593	0.630000	0.30394	0.563000	0.77884	CTG		PASS	0.433	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		30	121	30	121	---	---	---	---
REL	5966	broad.mit.edu	37	2	61149294	61149294	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:61149294C>G	ENST00000295025.8	+	11	1804	c.1484C>G	c.(1483-1485)tCt>tGt	p.S495C	REL_ENST00000394479.3_Missense_Mutation_p.S463C	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	495					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S495C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCTAATTGTTCTGTGAATATG	0.408			A		Hodgkin Lymphoma																																	uc002sam.1				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1483-1485)TCT>TGT		v-rel reticuloendotheliosis viral oncogene							114.0	104.0	107.0					2																	61149294		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61149294C>G	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1484C>G	2.37:g.61149294C>G	ENSP00000295025:p.Ser495Cys					REL_uc002san.1_Missense_Mutation_p.S463C	p.S495C	NM_002908	NP_002899	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	1708	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	495					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1484C>G	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954337	0.53293	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.48201	0.9;0.82	5.18	5.18	0.71444	.	0.501171	0.20895	N	0.083760	T	0.33118	0.0852	N	0.14661	0.345	0.23468	N	0.997615	P;P	0.48162	0.845;0.906	B;B	0.40101	0.221;0.319	T	0.31752	-0.9932	10	0.62326	D	0.03	1.818	15.4158	0.74966	0.0:1.0:0.0:0.0	.	463;495	Q17RU2;Q04864	.;REL_HUMAN	C	495;463	ENSP00000295025:S495C;ENSP00000377989:S463C	ENSP00000295025:S495C	S	+	2	0	REL	61002798	0.374000	0.25081	0.929000	0.37066	0.968000	0.65278	1.115000	0.31209	2.413000	0.81919	0.650000	0.86243	TCT		PASS	0.408	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		3	153	3	153	---	---	---	---
PDCL3	79031	broad.mit.edu	37	2	101188144	101188144	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:101188144G>T	ENST00000264254.6	+	5	839	c.461G>T	c.(460-462)tGc>tTc	p.C154F		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	154	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)	p.C154F(1)		endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCAACAACCTGCATACCCAAT	0.433																																						uc002tao.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)TGC>TTC		phosducin-like 3							104.0	111.0	108.0					2																	101188144		2203	4299	6502	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101188144G>T	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.461G>T	2.37:g.101188144G>T	ENSP00000264254:p.Cys154Phe						p.C154F	NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN			5	573	+			154					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.461G>T	CCDS33261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.6|22.6	4.317164|4.317164	0.81469|0.81469	.|.	.|.	ENSG00000115539|ENSG00000115539	ENST00000450127|ENST00000264254	.|T	.|0.41400	.|1.0	4.71|4.71	4.71|4.71	0.59529|0.59529	.|Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71804|0.71804	0.3383|0.3383	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.79629|0.79629	-0.1724|-0.1724	5|10	.|0.87932	.|D	.|0	-9.1959|-9.1959	18.0733|18.0733	0.89419|0.89419	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|154	.|Q9H2J4	.|PDCL3_HUMAN	S|F	102|154	.|ENSP00000264254:C154F	.|ENSP00000264254:C154F	A|C	+|+	1|2	0|0	PDCL3|PDCL3	100554576|100554576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.835000|9.835000	0.99442|0.99442	2.348000|2.348000	0.79779|0.79779	0.644000|0.644000	0.83932|0.83932	GCA|TGC		PASS	0.433	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		35	148	35	148	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116572486	116572486	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:116572486C>G	ENST00000410059.1	+	20	2298	c.1818C>G	c.(1816-1818)ttC>ttG	p.F606L	DPP10_ENST00000393147.2_Missense_Mutation_p.F610L|DPP10_ENST00000409163.1_Missense_Mutation_p.F556L|DPP10_ENST00000310323.8_Missense_Mutation_p.F599L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	606						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.F599L(1)|p.F606L(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAAGTGGATTCCAGGGTCTGA	0.403																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1816-1818)TTC>TTG		dipeptidyl peptidase 10 isoform long							126.0	129.0	128.0					2																	116572486		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116572486C>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1818C>G	2.37:g.116572486C>G	ENSP00000386565:p.Phe606Leu					DPP10_uc002tlb.1_Missense_Mutation_p.F556L|DPP10_uc002tlc.1_Missense_Mutation_p.F602L|DPP10_uc002tle.2_Missense_Mutation_p.F610L|DPP10_uc002tlf.1_Missense_Mutation_p.F599L	p.F606L	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			20	2275	+			606			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1818C>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993242	0.54041	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.16	1.08	0.20341	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	L	0.43646	1.37	0.48975	D	0.999736	P;D;P;P	0.60160	0.706;0.987;0.75;0.75	B;P;B;B	0.49922	0.18;0.626;0.367;0.275	T	0.04400	-1.0954	10	0.59425	D	0.04	-8.5772	8.2892	0.31948	0.0:0.5958:0.0:0.4042	.	599;610;602;606	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	606;556;610;599;556	ENSP00000386565:F606L;ENSP00000387038:F556L;ENSP00000376855:F610L;ENSP00000309066:F599L	ENSP00000309066:F599L	F	+	3	2	DPP10	116288956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.174000	0.31932	0.352000	0.24053	0.655000	0.94253	TTC		PASS	0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		11	94	11	94	---	---	---	---
TSN	7247	broad.mit.edu	37	2	122520626	122520626	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:122520626A>G	ENST00000389682.3	+	5	666	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	TSN_ENST00000409193.1_Missense_Mutation_p.Y135C|TSN_ENST00000536142.1_Intron|TSN_ENST00000498545.1_3'UTR	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	140					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)	p.Y140C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				GTAGAAGATTATCTCTCAGGA	0.368																																						uc002tnl.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)	3						c.(418-420)TAT>TGT		translin							84.0	84.0	84.0					2																	122520626		2203	4300	6503	SO:0001583	missense	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122520626A>G	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.419A>G	2.37:g.122520626A>G	ENSP00000374332:p.Tyr140Cys					TSN_uc002tnm.2_Missense_Mutation_p.Y93C|TSN_uc010yze.1_Intron|TSN_uc010flt.2_RNA	p.Y140C	NM_004622	NP_004613	Q15631	TSN_HUMAN			5	654	+		Ovarian(717;0.0563)|Prostate(154;0.116)	140					B7Z3X8|Q5U0K7	Missense_Mutation	SNP	ENST00000389682.3	37	c.419A>G	CCDS33284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.529143|4.529143	0.85706|0.85706	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000455432|ENST00000389682;ENST00000413418;ENST00000409193	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Translin, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85809|0.85809	0.5783|0.5783	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.89250|0.89250	0.3590|0.3590	5|9	.|0.87932	.|D	.|0	-0.5625|-0.5625	15.2069|15.2069	0.73186|0.73186	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|93;140	.|B3KRM8;Q15631	.|.;TSN_HUMAN	V|C	146|140;106;135	.|.	.|ENSP00000374332:Y140C	I|Y	+|+	1|2	0|0	TSN|TSN	122237096|122237096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.619000|6.619000	0.74219|0.74219	2.187000|2.187000	0.69744|0.69744	0.482000|0.482000	0.46254|0.46254	ATC|TAT		PASS	0.368	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622		4	45	4	45	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138414443	138414443	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:138414443G>T	ENST00000409968.1	+	23	4361	c.4183G>T	c.(4183-4185)Gtg>Ttg	p.V1395L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1398L|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1367L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1397	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.V1398L(1)|p.V1367L(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTTGAGACTGTGGGCCGCCA	0.473																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4096-4098)GTG>TTG		thrombospondin, type I, domain containing 7B							71.0	74.0	73.0					2																	138414443		1910	4115	6025	SO:0001583	missense	80731							g.chr2:138414443G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4183G>T	2.37:g.138414443G>T	ENSP00000387145:p.Val1395Leu					THSD7B_uc010zbj.1_Intron	p.V1366L	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4096	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4096G>T		.	.	.	.	.	.	.	.	.	.	G	4.925	0.171830	0.09391	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60299	0.2;0.2;0.2	6.17	-2.15	0.07102	.	0.570738	0.20881	N	0.084000	T	0.32315	0.0825	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21415	-1.0246	10	0.07644	T	0.81	.	0.4127	0.00444	0.4093:0.1944:0.1835:0.2129	.	1367	C9JKN6	.	L	1395;1398;1367	ENSP00000387145:V1395L;ENSP00000272643:V1398L;ENSP00000413841:V1367L	ENSP00000272643:V1398L	V	+	1	0	THSD7B	138130913	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	0.326000	0.19646	-0.601000	0.05783	-0.302000	0.09304	GTG		PASS	0.473	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		11	82	11	82	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	142567923	142567923	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:142567923T>C	ENST00000389484.3	-	2	1101	c.130A>G	c.(130-132)Act>Gct	p.T44A	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	44	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T44A(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGACACAAGTCACGTGATCG	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(130-132)ACT>GCT		low density lipoprotein-related protein 1B							64.0	60.0	62.0					2																	142567923		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142567923T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.130A>G	2.37:g.142567923T>C	ENSP00000374135:p.Thr44Ala	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.T81A	p.T44A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	2	1102	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	44			Extracellular (Potential).|LDL-receptor class A 1.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.130A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023588	0.75390	.	.	ENSG00000168702	ENST00000389484;ENST00000434794	D;D	0.91068	-2.26;-2.78	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.92093	0.7494	L	0.41632	1.29	0.49130	D	0.999756	D;D	0.63046	0.992;0.992	D;D	0.77004	0.989;0.989	D	0.89242	0.3584	10	0.13108	T	0.6	.	15.4882	0.75584	0.0:0.0:0.0:1.0	.	82;44	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	A	44	ENSP00000374135:T44A;ENSP00000413239:T44A	ENSP00000374135:T44A	T	-	1	0	LRP1B	142284393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.134000	0.77268	2.141000	0.66446	0.528000	0.53228	ACT		PASS	0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	48	6	48	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165947222	165947222	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:165947222G>T	ENST00000360093.3	-	28	5932	c.5441C>A	c.(5440-5442)tCt>tAt	p.S1814Y	SCN3A_ENST00000283254.7_Missense_Mutation_p.S1814Y|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.S297Y|SCN3A_ENST00000409101.3_Missense_Mutation_p.S1765Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1814					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S1814Y(1)|p.S1765Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCAAAATCAGAGAGTTTAGA	0.483																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(5440-5442)TCT>TAT		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						95.0	102.0	99.0					2																	165947222		2203	4298	6501	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947222G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5441C>A	2.37:g.165947222G>T	ENSP00000353206:p.Ser1814Tyr					SCN3A_uc010zcy.1_Missense_Mutation_p.S297Y|SCN3A_uc002ucy.2_Missense_Mutation_p.S1765Y|SCN3A_uc002ucz.2_Missense_Mutation_p.S1765Y	p.S1814Y	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			28	5933	-			1814					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.5441C>A		.	.	.	.	.	.	.	.	.	.	G	16.95	3.262682	0.59431	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000004	T	0.43433	0.1247	M	0.89904	3.07	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.995	D;D;D	0.67725	0.923;0.953;0.941	T	0.46707	-0.9172	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1765;1765;1814	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	Y	1814;1814;1765;297	ENSP00000353206:S1814Y;ENSP00000283254:S1814Y;ENSP00000386726:S1765Y;ENSP00000439920:S297Y	ENSP00000283254:S1814Y	S	-	2	0	SCN3A	165655468	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.912000	0.87465	2.884000	0.98904	0.655000	0.94253	TCT		PASS	0.483	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		27	132	27	132	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167133750	167133750	+	Silent	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:167133750A>G	ENST00000409435.1	-	15	2616	c.2617T>C	c.(2617-2619)Ttg>Ctg	p.L873L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.L874L|SCN9A_ENST00000375387.4_Silent_p.L874L|SCN9A_ENST00000409672.1_Silent_p.L862L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	873					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.L862L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGATGGCCAACACTAAGGTG	0.463																																						uc010fpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(2584-2586)TTG>CTG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						191.0	179.0	183.0					2																	167133750		2203	4300	6503	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167133750A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2617T>C	2.37:g.167133750A>G						uc002udp.2_RNA	p.L862L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			16	2925	-			873			II.|Helical; Name=S5 of repeat II; (Potential).		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.2584T>C	CCDS46441.1																																																																																				PASS	0.463	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		31	154	31	154	---	---	---	---
RBM45	129831	broad.mit.edu	37	2	178990747	178990747	+	Silent	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:178990747A>G	ENST00000286070.5	+	9	1361	c.1269A>G	c.(1267-1269)tcA>tcG	p.S423S		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	425	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S423S(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			ACCTTGTGTCAGGAAAAAATG	0.368																																						uc002ulv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1267-1269)TCA>TCG		RNA binding motif protein 45							158.0	146.0	150.0					2																	178990747		2203	4300	6503	SO:0001819	synonymous_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178990747A>G	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1269A>G	2.37:g.178990747A>G							p.S423S	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		9	1361	+			425			RRM 3.		Q6NYL0|Q8NFC9	Silent	SNP	ENST00000286070.5	37	c.1269A>G	CCDS33335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.825|9.825	1.186899|1.186899	0.21870|0.21870	.|.	.|.	ENSG00000155636|ENSG00000155636	ENST00000455903|ENST00000424099	.|.	.|.	.|.	5.44|5.44	1.47|1.47	0.22746|0.22746	.|.	.|.	.|.	.|.	.|.	T|T	0.45558|0.45558	0.1348|0.1348	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27054|0.27054	-1.0085|-1.0085	4|4	.|.	.|.	.|.	-9.8616|-9.8616	3.5196|3.5196	0.07737|0.07737	0.444:0.0:0.1647:0.3913|0.444:0.0:0.1647:0.3913	.|.	.|.	.|.	.|.	R|G	84|22	.|.	.|.	Q|R	+|+	2|1	0|2	RBM45|RBM45	178698993|178698993	0.245000|0.245000	0.23899|0.23899	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	-0.394000|-0.394000	0.07296|0.07296	0.434000|0.434000	0.26340|0.26340	0.533000|0.533000	0.62120|0.62120	CAG|AGG		PASS	0.368	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		15	70	15	70	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640666	179640666	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:179640666T>G	ENST00000591111.1	-	28	6149	c.5925A>C	c.(5923-5925)gaA>gaC	p.E1975D	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1929D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1975D|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E1929D|TTN_ENST00000360870.5_Missense_Mutation_p.E1975D|TTN_ENST00000460472.2_Missense_Mutation_p.E1929D|TTN_ENST00000589042.1_Missense_Mutation_p.E1975D			Q8WZ42	TITIN_HUMAN	titin	12796					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.E1975D(3)|p.E1929D(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCACAACTTCTTTGGTTT	0.448																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(5923-5925)GAA>GAC		titin isoform N2-A							153.0	156.0	155.0					2																	179640666		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640666T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5925A>C	2.37:g.179640666T>G	ENSP00000465570:p.Glu1975Asp					TTN_uc010zfh.1_Missense_Mutation_p.E1929D|TTN_uc010zfi.1_Missense_Mutation_p.E1929D|TTN_uc010zfj.1_Missense_Mutation_p.E1929D|TTN_uc002unb.2_Missense_Mutation_p.E1975D|uc002unc.1_5'Flank	p.E1975D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6149	-			1975					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.5925A>C		.	.	.	.	.	.	.	.	.	.	T	7.260	0.604961	0.14002	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64803	-0.12;0.12;0.1;0.09;0.26	5.1	3.91	0.45181	Ribonuclease H-like (1);	.	.	.	.	T	0.68851	0.3046	L	0.36672	1.1	0.22754	N	0.998776	D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0	D;D;D;D;D	0.83275	0.978;0.978;0.978;0.978;0.996	T	0.57751	-0.7757	9	0.87932	D	0	.	9.0824	0.36561	0.0:0.2079:0.0:0.7921	.	1929;1929;1929;1975;1975	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	1975;1929;1929;1929;1929;1975	ENSP00000343764:E1975D;ENSP00000434586:E1929D;ENSP00000340554:E1929D;ENSP00000352154:E1929D;ENSP00000354117:E1975D	ENSP00000340554:E1929D	E	-	3	2	TTN	179348911	0.991000	0.36638	0.937000	0.37676	0.914000	0.54420	0.658000	0.24979	0.753000	0.32945	0.496000	0.49642	GAA		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	193	31	193	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220162155	220162155	+	Splice_Site	SNP	C	C	A	rs373382338		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr2:220162155C>A	ENST00000295718.2	-	14	2128	c.1888G>T	c.(1888-1890)Gac>Tac	p.D630Y	PTPRN_ENST00000409251.3_Splice_Site_p.D601Y|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Splice_Site_p.D540Y	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	630					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D630Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGCACAGGTCCTGTGGAGGA	0.582																																						uc002vkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1888-1890)GAC>TAC		protein tyrosine phosphatase, receptor type, N							38.0	41.0	40.0					2																	220162155		2203	4300	6503	SO:0001630	splice_region_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162155C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1888-1G>T	2.37:g.220162155C>A						PTPRN_uc010zlc.1_Missense_Mutation_p.D540Y|PTPRN_uc002vla.2_Missense_Mutation_p.D601Y	p.D630Y	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	14	1977	-		Renal(207;0.0474)	630			Cytoplasmic (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1888G>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716219	0.68844	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.04654	3.58;3.62;3.63	4.22	4.22	0.49857	.	0.142736	0.45361	D	0.000372	T	0.17195	0.0413	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.67231	0.817;0.95	T	0.00414	-1.1754	10	0.87932	D	0	.	14.5521	0.68073	0.0:1.0:0.0:0.0	.	601;630	Q6NSL1;Q16849	.;PTPRN_HUMAN	Y	601;630;601;540	ENSP00000386638:D601Y;ENSP00000295718:D630Y;ENSP00000444244:D540Y	ENSP00000295718:D630Y	D	-	1	0	PTPRN	219870399	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.798000	0.75155	2.180000	0.69256	0.561000	0.74099	GAC		PASS	0.582	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		Missense_Mutation	4	66	4	66	---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37033218	37033218	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr3:37033218C>G	ENST00000322716.5	-	1	1577	c.1351G>C	c.(1351-1353)Gat>Cat	p.D451H	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	451					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.D451H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ATTTTTTCATCTTCCTTATTT	0.333																																						uc003cgk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1351-1353)GAT>CAT		EPM2A interacting protein 1							32.0	32.0	32.0					3																	37033218		1819	4068	5887	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033218C>G	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1351G>C	3.37:g.37033218C>G	ENSP00000406027:p.Asp451His					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.D451H	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	1578	-			451					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.1351G>C	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665466	0.47677	.	.	ENSG00000178567	ENST00000322716	T	0.15017	2.46	4.71	4.71	0.59529	.	.	.	.	.	T	0.19525	0.0469	L	0.44542	1.39	0.09310	N	1	P	0.43169	0.8	B	0.43575	0.424	T	0.07462	-1.0771	9	0.40728	T	0.16	-6.3997	13.0055	0.58701	0.0:1.0:0.0:0.0	.	451	Q7L775	EPMIP_HUMAN	H	451	ENSP00000406027:D451H	ENSP00000406027:D451H	D	-	1	0	EPM2AIP1	37008222	0.032000	0.19561	0.717000	0.30585	0.899000	0.52679	1.476000	0.35420	2.420000	0.82092	0.655000	0.94253	GAT		PASS	0.333	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		3	52	3	52	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48621171	48621172	+	Missense_Mutation	DNP	GG	GG	AA	rs567806128		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr3:48621171_48621172GG>AA	ENST00000328333.8	-	39	4427_4428	c.4320_4321CC>TT	c.(4318-4323)ccCCct>ccTTct	p.P1441S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1441S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1441	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1441S(2)|p.P1440P(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCTTTCCAGGGGGGCCAACGG	0.574																																						uc003ctz.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(4321-4323)CCT>TCT|c.(4318-4320)CCC>CCT		alpha 1 type VII collagen precursor																																				SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48621171G>A|g.chr3:48621172G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4320_4321delinsAA	3.37:g.48621171_48621172delinsAA	ENSP00000332371:p.Pro1441Ser						p.P1441S|p.P1440P	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	39	4322|4321	-			1441|1440			Triple-helical region.|Interrupted collagenous region.		Q14054|Q16507	Missense_Mutation|Silent	SNP	ENST00000328333.8	37	c.4321C>T|c.4320C>T	CCDS2773.1																																																																																				PASS	0.574	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		9	73|74	9	73	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64617583	64617583	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr3:64617583C>G	ENST00000498707.1	-	15	2536	c.2194G>C	c.(2194-2196)Gtt>Ctt	p.V732L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V704L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	732	Cys-rich.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V732L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAGTTTAAAACATGATCGCAT	0.333																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(2194-2196)GTT>CTT		ADAM metallopeptidase with thrombospondin type 1							84.0	82.0	83.0					3																	64617583		2201	4299	6500	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64617583C>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2194G>C	3.37:g.64617583C>G	ENSP00000418735:p.Val732Leu					ADAMTS9_uc011bfo.1_Missense_Mutation_p.V704L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.V561L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.V732L	p.V732L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	15	2226	-		Lung NSC(201;0.00682)	732			Cys-rich.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2194G>C	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948247	0.53186	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.66815	-0.23;-0.23	6.02	1.22	0.21188	.	0.218730	0.38272	N	0.001743	T	0.67306	0.2879	M	0.67397	2.05	0.80722	D	1	P;P;B;B	0.44946	0.761;0.846;0.116;0.391	B;P;B;B	0.47162	0.339;0.54;0.099;0.179	T	0.66404	-0.5932	10	0.62326	D	0.03	.	10.4855	0.44719	0.0:0.7018:0.0:0.2982	.	704;732;732;732	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	L	704;732	ENSP00000295903:V704L;ENSP00000418735:V732L	ENSP00000295903:V704L	V	-	1	0	ADAMTS9	64592623	0.747000	0.28283	0.458000	0.27068	0.995000	0.86356	1.210000	0.32370	-0.053000	0.13289	0.650000	0.86243	GTT		PASS	0.333	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			12	61	12	61	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97454854	97454854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr3:97454854G>A	ENST00000389672.5	+	16	3058	c.3020G>A	c.(3019-3021)tGg>tAg	p.W1007*		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	913	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.W913*(1)|p.W1007*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCCACTGCTGGCAGAAGGAG	0.488																																						uc010how.1																			2	Substitution - Nonsense(2)		lung(2)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(3019-3021)TGG>TAG		EPH receptor A6 isoform a							82.0	84.0	83.0					3																	97454854		1985	4175	6160	SO:0001587	stop_gained	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97454854G>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3020G>A	3.37:g.97454854G>A	ENSP00000374323:p.Trp1007*					EPHA6_uc003drt.2_Nonsense_Mutation_p.W399*|EPHA6_uc010hox.1_RNA	p.W1007*	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			16	3063	+			912			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Nonsense_Mutation	SNP	ENST00000389672.5	37	c.3020G>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	39	7.384904	0.98252	.	.	ENSG00000080224	ENST00000389672	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8206	0.96591	0.0:0.0:1.0:0.0	.	.	.	.	X	1007	.	ENSP00000374323:W1007X	W	+	2	0	EPHA6	98937544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.689000	0.91719	0.561000	0.74099	TGG		PASS	0.488	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		6	62	6	62	---	---	---	---
OR5H1	26341	broad.mit.edu	37	3	97852280	97852280	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr3:97852280T>A	ENST00000354565.2	+	1	739	c.739T>A	c.(739-741)Tct>Act	p.S247T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S247T(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CCATCTCTTCTCTGTCTCTTT	0.408																																						uc011bgt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(739-741)TCT>ACT		olfactory receptor, family 5, subfamily H,							127.0	137.0	133.0					3																	97852280		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852280T>A	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.739T>A	3.37:g.97852280T>A	ENSP00000346575:p.Ser247Thr						p.S247T	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	739	+			247			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.739T>A	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	T	8.546	0.874391	0.17395	.	.	ENSG00000231192	ENST00000354565	T	0.00099	8.73	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.150377	0.31370	N	0.007768	T	0.00241	0.0007	L	0.35644	1.08	0.09310	N	1	D	0.55800	0.973	D	0.64237	0.923	T	0.58696	-0.7591	10	0.45353	T	0.12	.	10.1009	0.42504	0.0:0.0:0.0:1.0	.	247	A6NKK0	OR5H1_HUMAN	T	247	ENSP00000346575:S247T	ENSP00000346575:S247T	S	+	1	0	OR5H1	99334970	0.000000	0.05858	0.427000	0.26684	0.007000	0.05969	0.505000	0.22642	1.481000	0.48307	0.164000	0.16699	TCT		PASS	0.408	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		8	160	8	160	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123367836	123367836	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr3:123367836A>G	ENST00000475616.1	-	23	4396	c.4397T>C	c.(4396-4398)aTt>aCt	p.I1466T	MYLK_ENST00000346322.5_Missense_Mutation_p.I1397T|MYLK_ENST00000354792.5_Missense_Mutation_p.I266T|MYLK_ENST00000359169.1_Missense_Mutation_p.I1466T|MYLK_ENST00000360304.3_Missense_Mutation_p.I1466T|MYLK_ENST00000360772.3_Missense_Mutation_p.I1466T			Q15746	MYLK_HUMAN	myosin light chain kinase	1466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.I1466T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCTCCTCAATGTCGTAGAA	0.517																																						uc003ego.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(4396-4398)ATT>ACT		myosin light chain kinase isoform 1							221.0	199.0	206.0					3																	123367836		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123367836A>G	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4397T>C	3.37:g.123367836A>G	ENSP00000418335:p.Ile1466Thr					MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.I266T|MYLK_uc011bjw.1_Missense_Mutation_p.I1466T|MYLK_uc003egp.2_Missense_Mutation_p.I1397T|MYLK_uc003egq.2_Missense_Mutation_p.I1466T|MYLK_uc003egr.2_Missense_Mutation_p.I1397T|MYLK_uc003egs.2_Missense_Mutation_p.I1290T	p.I1466T	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	26	4679	-		Lung NSC(201;0.0496)	1466			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4397T>C	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186808	0.57909	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.49355	0.1552	M	0.82193	2.58	0.80722	D	1	B;B;B;B;B	0.17852	0.002;0.024;0.006;0.009;0.003	B;B;B;B;B	0.16722	0.005;0.016;0.014;0.006;0.009	T	0.54669	-0.8259	9	0.72032	D	0.01	.	14.6535	0.68814	1.0:0.0:0.0:0.0	.	1466;1397;1466;1397;1466	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	T	1466;1466;1466;1397;266;1466	ENSP00000354004:I1466T;ENSP00000353452:I1466T;ENSP00000352088:I1466T;ENSP00000320622:I1397T;ENSP00000346846:I266T;ENSP00000418335:I1466T	ENSP00000320622:I1397T	I	-	2	0	MYLK	124850526	1.000000	0.71417	0.986000	0.45419	0.461000	0.32589	8.826000	0.92034	1.919000	0.55581	0.528000	0.53228	ATT		PASS	0.517	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		14	112	14	112	---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123634171	123634171	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr3:123634171T>C	ENST00000488653.2	-	13	2407	c.2317A>G	c.(2317-2319)Aat>Gat	p.N773D	CCDC14_ENST00000310351.4_Missense_Mutation_p.N613D|CCDC14_ENST00000489746.1_Missense_Mutation_p.N573D|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000485727.1_Missense_Mutation_p.N573D|CCDC14_ENST00000433542.2_Missense_Mutation_p.N732D			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	773					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.N613D(1)|p.N732D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTATCCAAATTATGCTCATCT	0.403																																						uc011bjx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2317-2319)AAT>GAT		coiled-coil domain containing 14							121.0	124.0	123.0					3																	123634171		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123634171T>C	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2317A>G	3.37:g.123634171T>C	ENSP00000420180:p.Asn773Asp					CCDC14_uc003egv.3_Missense_Mutation_p.N414D|CCDC14_uc003egx.3_Missense_Mutation_p.N573D|CCDC14_uc010hrt.2_Missense_Mutation_p.N732D|CCDC14_uc003egy.3_Missense_Mutation_p.N573D|CCDC14_uc003egz.2_Intron	p.N773D	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	13	2408	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	773					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.2317A>G		.	.	.	.	.	.	.	.	.	.	T	5.628	0.300611	0.10678	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.23	1.49	0.22878	.	0.509065	0.19888	N	0.103803	T	0.35508	0.0934	L	0.43152	1.355	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.002	B;B;B	0.11329	0.006;0.006;0.006	T	0.20739	-1.0266	10	0.27785	T	0.31	.	8.9826	0.35974	0.0:0.285:0.0:0.715	.	773;732;614	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	D	773;613;573;573;732;754	ENSP00000420180:N773D;ENSP00000312031:N613D;ENSP00000418002:N573D;ENSP00000418403:N573D;ENSP00000395706:N732D;ENSP00000386866:N754D	ENSP00000312031:N613D	N	-	1	0	CCDC14	125116861	0.016000	0.18221	0.004000	0.12327	0.554000	0.35429	1.073000	0.30691	0.109000	0.17891	0.482000	0.46254	AAT		PASS	0.403	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		33	179	33	179	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906083	164906083	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr3:164906083C>G	ENST00000475390.1	-	2	2979	c.2536G>C	c.(2536-2538)Gtt>Ctt	p.V846L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.V846L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	846					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.V846L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACTCCTGAAACCCCACCAACT	0.577										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2536-2538)GTT>CTT		slit and trk like 3 protein precursor							96.0	93.0	94.0					3																	164906083		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906083C>G	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2536G>C	3.37:g.164906083C>G	ENSP00000420091:p.Val846Leu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.V846L	p.V846L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2980	-			846			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2536G>C	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	6.875	0.530872	0.13127	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.55234	0.53;0.53	5.86	4.96	0.65561	.	0.246394	0.21127	N	0.079703	T	0.30727	0.0774	N	0.08118	0	0.30849	N	0.734816	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	10	0.46703	T	0.11	-7.6025	8.2065	0.31458	0.0:0.7577:0.1599:0.0824	.	846	O94933	SLIK3_HUMAN	L	846	ENSP00000420091:V846L;ENSP00000241274:V846L	ENSP00000241274:V846L	V	-	1	0	SLITRK3	166388777	0.038000	0.19896	0.988000	0.46212	0.274000	0.26718	2.054000	0.41335	1.445000	0.47624	0.655000	0.94253	GTT		PASS	0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		3	129	3	129	---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38798666	38798666	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr4:38798666G>A	ENST00000502213.2	-	3	2016	c.1787C>T	c.(1786-1788)aCt>aTt	p.T596I	TLR1_ENST00000308979.2_Missense_Mutation_p.T596I|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	596					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T596I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GGAGGTCACAGTCACAGCCAA	0.532																																					GBM(5;216 373 40795 46382)	uc003gtl.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(1786-1788)ACT>ATT		toll-like receptor 1 precursor							74.0	91.0	85.0					4																	38798666		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798666G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1787C>T	4.37:g.38798666G>A	ENSP00000421259:p.Thr596Ile						p.T596I	NM_003263	NP_003254	Q15399	TLR1_HUMAN			4	2061	-			596			Helical; (Potential).		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.1787C>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	3.689	-0.064022	0.07273	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.01902	4.57;4.57	5.43	0.149	0.14863	.	1.121720	0.06656	N	0.763711	T	0.01870	0.0059	L	0.28014	0.82	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49960	-0.8883	10	0.18276	T	0.48	.	4.959	0.14057	0.3883:0.2761:0.3355:0.0	.	596	Q15399	TLR1_HUMAN	I	596	ENSP00000354932:T596I;ENSP00000421259:T596I	ENSP00000354932:T596I	T	-	2	0	TLR1	38475061	0.000000	0.05858	0.000000	0.03702	0.727000	0.41649	-0.540000	0.06106	0.010000	0.14839	0.655000	0.94253	ACT		PASS	0.532	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			13	82	13	82	---	---	---	---
MEPE	56955	broad.mit.edu	37	4	88766515	88766515	+	Silent	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr4:88766515G>T	ENST00000424957.3	+	4	568	c.495G>T	c.(493-495)ggG>ggT	p.G165G	MEPE_ENST00000560249.1_Silent_p.G52G|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Silent_p.G165G|MEPE_ENST00000540395.1_Silent_p.G52G|MEPE_ENST00000497649.2_Silent_p.G141G|MEPE_ENST00000395102.4_Silent_p.G196G	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	165					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G165G(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AACTCCTGGGGGAAGAAAACA	0.403																																						uc003hqy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(493-495)GGG>GGT		matrix, extracellular phosphoglycoprotein with							62.0	63.0	63.0					4																	88766515		2203	4300	6503	SO:0001819	synonymous_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766515G>T	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.495G>T	4.37:g.88766515G>T						MEPE_uc010ikn.2_Silent_p.G52G	p.G165G	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	534	+		Hepatocellular(203;0.114)	165					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Silent	SNP	ENST00000424957.3	37	c.495G>T	CCDS3625.1																																																																																				PASS	0.403	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			10	60	10	60	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104030059	104030059	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr4:104030059C>G	ENST00000265148.3	-	48	8001	c.7912G>C	c.(7912-7914)Gaa>Caa	p.E2638Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E2517Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2638	Globular autoinhibitory domain. {ECO:0000250}.				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.E2601Q(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)		TTTGGTGATTCCTTTGGCACA	0.393																																						uc003hxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(7912-7914)GAA>CAA		centromere protein E							188.0	185.0	186.0					4																	104030059		2203	4300	6503	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.chr4:104030059C>G	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.7912G>C	4.37:g.104030059C>G	ENSP00000265148:p.Glu2638Gln					CENPE_uc003hxc.1_Missense_Mutation_p.E2517Q	p.E2638Q	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	8002	-			2638			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7912G>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805208	0.70682	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.69175	-0.38;-0.37	5.19	5.19	0.71726	.	.	.	.	.	T	0.66528	0.2798	L	0.36672	1.1	0.09310	N	0.999996	P;P	0.51791	0.948;0.914	P;B	0.49999	0.628;0.425	T	0.61182	-0.7114	9	0.56958	D	0.05	.	14.2305	0.65890	0.0:1.0:0.0:0.0	.	2517;2638	Q02224-3;Q02224	.;CENPE_HUMAN	Q	2638;2517	ENSP00000265148:E2638Q;ENSP00000369365:E2517Q	ENSP00000265148:E2638Q	E	-	1	0	CENPE	104249508	0.964000	0.33143	0.178000	0.23040	0.924000	0.55760	3.986000	0.56937	2.418000	0.82041	0.655000	0.94253	GAA		PASS	0.393	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	120	13	120	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104068579	104068579	+	Silent	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr4:104068579C>A	ENST00000265148.3	-	29	4157	c.4068G>T	c.(4066-4068)acG>acT	p.T1356T	CENPE_ENST00000380026.3_Silent_p.T1331T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1356					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.T1356T(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)		CTTCTTTTATCGTTTTAAGGT	0.343																																						uc003hxb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(4)	9						c.(4066-4068)ACG>ACT		centromere protein E							115.0	110.0	112.0					4																	104068579		2203	4299	6502	SO:0001819	synonymous_variant	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.chr4:104068579C>A	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.4068G>T	4.37:g.104068579C>A						CENPE_uc003hxc.1_Silent_p.T1331T	p.T1356T	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	29	4158	-			1356			Potential.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.4068G>T	CCDS34042.1																																																																																				PASS	0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	108	15	108	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122254094	122254094	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr4:122254094G>C	ENST00000394427.2	-	4	1090	c.679C>G	c.(679-681)Ctt>Gtt	p.L227V	QRFPR_ENST00000334383.5_Missense_Mutation_p.L227V	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	227				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.L227V(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATCACCATAAGAGGCAGGAGG	0.423																																						uc010inj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)CTT>GTT		G protein-coupled receptor 103							122.0	110.0	114.0					4																	122254094		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122254094G>C	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.679C>G	4.37:g.122254094G>C	ENSP00000377948:p.Leu227Val					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.L227V	p.L227V	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			4	1058	-			227	VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).		Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.679C>G	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477214	0.63849	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.44482	0.92;0.92	6.06	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.062950	0.64402	D	0.000008	T	0.58133	0.2101	M	0.81179	2.53	0.80722	D	1	P;P	0.47106	0.89;0.565	P;P	0.54706	0.759;0.515	T	0.60188	-0.7312	10	0.52906	T	0.07	.	11.0749	0.48025	0.1981:0.0:0.8019:0.0	.	227;227	Q96P65;G4XH69	QRFPR_HUMAN;.	V	227	ENSP00000377948:L227V;ENSP00000335610:L227V	ENSP00000335610:L227V	L	-	1	0	QRFPR	122473544	0.997000	0.39634	0.098000	0.21074	0.980000	0.70556	2.453000	0.44970	0.897000	0.36392	0.655000	0.94253	CTT		PASS	0.423	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		10	91	10	91	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126372108	126372108	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr4:126372108A>G	ENST00000394329.3	+	9	9950	c.9937A>G	c.(9937-9939)Aaa>Gaa	p.K3313E	FAT4_ENST00000335110.5_Missense_Mutation_p.K1611E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3313	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K3313E(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAGCTCCTAAAGGTACTAT	0.383																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(9937-9939)AAA>GAA		FAT tumor suppressor homolog 4 precursor							78.0	79.0	79.0					4																	126372108		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372108A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9937A>G	4.37:g.126372108A>G	ENSP00000377862:p.Lys3313Glu					FAT4_uc011cgp.1_Missense_Mutation_p.K1611E|FAT4_uc003ifi.1_Missense_Mutation_p.K791E	p.K3313E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	9937	+			3313			Cadherin 32.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9937A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	0.269	-0.994092	0.02145	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01665	4.7;4.7	5.42	2.81	0.32909	Cadherin (3);Cadherin-like (1);	0.704659	0.11347	U	0.573462	T	0.01387	0.0045	N	0.25890	0.77	0.09310	N	1	B;B;B	0.13145	0.0;0.005;0.007	B;B;B	0.15052	0.002;0.012;0.007	T	0.46911	-0.9157	10	0.02654	T	1	.	7.8328	0.29353	0.6718:0.2587:0.0694:0.0	.	1611;3313;3313	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	E	3313;1611	ENSP00000377862:K3313E;ENSP00000335169:K1611E	ENSP00000335169:K1611E	K	+	1	0	FAT4	126591558	0.585000	0.26774	0.010000	0.14722	0.488000	0.33401	2.337000	0.43947	0.879000	0.35944	-0.313000	0.08912	AAA		PASS	0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		14	84	14	84	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141320055	141320055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr4:141320055C>T	ENST00000325617.5	-	8	1274	c.834G>A	c.(832-834)tgG>tgA	p.W278*	CLGN_ENST00000414773.1_Nonsense_Mutation_p.W278*|CLGN_ENST00000537281.1_Nonsense_Mutation_p.W278*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	278					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.W278C(1)|p.W278*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTCTTTCATCCCATTCCTCAG	0.403																																						uc011chi.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(2)|skin(1)	3						c.(832-834)TGG>TGA		calmegin precursor							217.0	211.0	213.0					4																	141320055		2203	4300	6503	SO:0001587	stop_gained	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141320055C>T	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.834G>A	4.37:g.141320055C>T	ENSP00000326699:p.Trp278*					CLGN_uc003iii.2_Nonsense_Mutation_p.W278*	p.W278*	NM_001130675	NP_001124147	O14967	CLGN_HUMAN			9	1052	-	all_hematologic(180;0.162)		278			Lumenal (Potential).|1-1.		B3KS90|B4DXV8|D3DNY8	Nonsense_Mutation	SNP	ENST00000325617.5	37	c.834G>A	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	C	39	7.505309	0.98325	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5519	19.9228	0.97093	0.0:1.0:0.0:0.0	.	.	.	.	X	278;278;278;195	.	ENSP00000326699:W278X	W	-	3	0	CLGN	141539505	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.776000	0.85560	2.709000	0.92574	0.637000	0.83480	TGG		PASS	0.403	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		10	258	10	258	---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148876465	148876465	+	Splice_Site	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr4:148876465A>G	ENST00000336498.3	+	16	1630		c.e16-1		ARHGAP10_ENST00000414545.2_Splice_Site	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.?(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CTTTTCACACAGGAGTCTTCC	0.328																																						uc003ilf.2																			1	Unknown(1)		lung(1)	skin(2)|pancreas(1)|lung(1)	4						c.e16-2		Rho GTPase activating protein 10							154.0	169.0	164.0					4																	148876465		2203	4299	6502	SO:0001630	splice_region_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148876465A>G	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1392-1A>G	4.37:g.148876465A>G						ARHGAP10_uc003ilg.2_Splice_Site_p.R113_splice|ARHGAP10_uc003ilh.2_Splice_Site_p.R45_splice	p.R464_splice	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	16	1392	+	all_hematologic(180;0.151)	Renal(17;0.0166)						Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000336498.3	37	c.1392_splice	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084147	0.55861	.	.	ENSG00000071205	ENST00000336498;ENST00000507661;ENST00000414545	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4648	0.75390	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP10	149095915	1.000000	0.71417	0.977000	0.42913	0.647000	0.38526	7.757000	0.85209	2.112000	0.64535	0.533000	0.62120	.		PASS	0.328	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	Intron	21	411	21	411	---	---	---	---
PDE4D	5144	broad.mit.edu	37	5	58285714	58285714	+	Silent	SNP	T	T	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr5:58285714T>A	ENST00000340635.6	-	10	1495	c.1320A>T	c.(1318-1320)ccA>ccT	p.P440P	PDE4D_ENST00000405755.2_Silent_p.P318P|PDE4D_ENST00000502484.2_Silent_p.P379P|PDE4D_ENST00000546160.1_Silent_p.P379P|PDE4D_ENST00000507116.1_Silent_p.P376P|PDE4D_ENST00000358923.6_Silent_p.P138P|PDE4D_ENST00000360047.5_Silent_p.P304P|PDE4D_ENST00000317118.8_Silent_p.P149P|PDE4D_ENST00000503258.1_Silent_p.P310P	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	440					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.P304P(2)|p.P310P(1)|p.P376P(1)|p.P379P(1)|p.P318P(1)|p.P440P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAGTATCTACTGGAATTTTAA	0.318																																						uc003jsa.2																			7	Substitution - coding silent(7)		lung(7)	breast(1)|central_nervous_system(1)	2						c.(1318-1320)CCA>CCT		phosphodiesterase 4D isoform 1	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						97.0	98.0	98.0					5																	58285714		1826	4080	5906	SO:0001819	synonymous_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58285714T>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1320A>T	5.37:g.58285714T>A						PDE4D_uc003jrx.2_Silent_p.P304P|PDE4D_uc003jry.2_Silent_p.P138P|PDE4D_uc003jrz.2_Silent_p.P376P|PDE4D_uc003jsb.2_Silent_p.P379P|PDE4D_uc003jrt.2_Silent_p.P138P|PDE4D_uc003jru.2_Silent_p.P216P|PDE4D_uc003jrv.2_Silent_p.P310P|PDE4D_uc003jrw.2_Silent_p.P318P|PDE4D_uc003jrs.2_Silent_p.P149P	p.P440P	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	10	1492	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	440					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000340635.6	37	c.1320A>T	CCDS47213.1																																																																																				PASS	0.318	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			10	61	10	61	---	---	---	---
TGFBI	7045	broad.mit.edu	37	5	135390435	135390435	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr5:135390435G>C	ENST00000442011.2	+	10	1456	c.1295G>C	c.(1294-1296)aGg>aCg	p.R432T	TGFBI_ENST00000305126.8_Missense_Mutation_p.R432T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	432	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.R432T(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCCATACAAGGAATTTGCTT	0.458																																						uc003lbf.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1294-1296)AGG>ACG		transforming growth factor, beta-induced, 68kDa							237.0	231.0	233.0					5																	135390435		1870	4108	5978	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390435G>C	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1295G>C	5.37:g.135390435G>C	ENSP00000416330:p.Arg432Thr					TGFBI_uc003lbg.3_Missense_Mutation_p.R165T|TGFBI_uc003lbh.3_Missense_Mutation_p.R258T|TGFBI_uc011cyb.1_Missense_Mutation_p.R258T|TGFBI_uc010jed.2_Missense_Mutation_p.R165T	p.R432T	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1456	+			432			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1295G>C	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.228|6.228	0.410122|0.410122	0.11812|0.11812	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000508767;ENST00000514554|ENST00000442011;ENST00000398813;ENST00000305126	.|D;D	.|0.90444	.|-2.67;-2.67	5.83|5.83	3.49|3.49	0.39957|0.39957	.|FAS1 domain (5);	.|0.234630	.|0.49916	.|D	.|0.000135	T|T	0.79003|0.79003	0.4373|0.4373	N|N	0.11756|0.11756	0.17|0.17	0.23696|0.23696	N|N	0.997084|0.997084	.|B;B	.|0.14438	.|0.01;0.007	.|B;B	.|0.16722	.|0.016;0.016	T|T	0.66052|0.66052	-0.6019|-0.6019	5|10	.|0.40728	.|T	.|0.16	-11.1481|-11.1481	5.2392|5.2392	0.15462|0.15462	0.6309:0.1407:0.2284:0.0|0.6309:0.1407:0.2284:0.0	.|.	.|165;432	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	N|T	170;149|432;165;432	.|ENSP00000416330:R432T;ENSP00000306306:R432T	.|ENSP00000306306:R432T	K|R	+|+	3|2	2|0	TGFBI|TGFBI	135418334|135418334	1.000000|1.000000	0.71417|0.71417	0.570000|0.570000	0.28473|0.28473	0.039000|0.039000	0.13416|0.13416	1.064000|1.064000	0.30579|0.30579	0.494000|0.494000	0.27859|0.27859	-0.302000|-0.302000	0.09304|0.09304	AAG|AGG		PASS	0.458	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			46	314	46	314	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140221414	140221414	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr5:140221414T>G	ENST00000531613.1	+	1	508	c.508T>G	c.(508-510)Tac>Gac	p.Y170D	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.Y170D|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y170D(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTTAACCTACAGGCTTAG	0.443																																						uc003lhs.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(508-510)TAC>GAC		protocadherin alpha 8 isoform 1 precursor							74.0	78.0	77.0					5																	140221414		2203	4300	6503	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140221414T>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.508T>G	5.37:g.140221414T>G	ENSP00000434655:p.Tyr170Asp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.Y170D	p.Y170D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	508	+			170			Cadherin 2.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.508T>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760586	0.69763	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.63096	-0.02;-0.02	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.33610	U	0.004736	D	0.88511	0.6456	H	0.99897	4.91	0.42232	D	0.991899	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92785	0.6243	10	0.87932	D	0	.	12.7619	0.57370	0.0:0.0:0.0:1.0	.	170;170	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	D	170	ENSP00000434655:Y170D;ENSP00000367363:Y170D	ENSP00000367363:Y170D	Y	+	1	0	PCDHA8	140201598	1.000000	0.71417	0.007000	0.13788	0.044000	0.14063	7.740000	0.84986	1.464000	0.47987	0.451000	0.29950	TAC		PASS	0.443	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		8	99	8	99	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169507178	169507178	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr5:169507178G>A	ENST00000256935.8	+	50	5258	c.5178G>A	c.(5176-5178)aaG>aaA	p.K1726K	DOCK2_ENST00000520908.1_Silent_p.K1218K|DOCK2_ENST00000540750.1_Silent_p.K787K|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1726					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.K1726K(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTCCAGGAAGCATGAGTTCA	0.527																																						uc003maf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(5176-5178)AAG>AAA		dedicator of cytokinesis 2							112.0	96.0	102.0					5																	169507178		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169507178G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5178G>A	5.37:g.169507178G>A						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.K1218K|DOCK2_uc003mah.2_Silent_p.K282K	p.K1726K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5258	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1726					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.5178G>A	CCDS4371.1																																																																																				PASS	0.527	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		4	65	4	65	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180376262	180376262	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr5:180376262G>A	ENST00000340184.4	+	7	1065	c.859G>A	c.(859-861)Gca>Aca	p.A287T	BTNL8_ENST00000400707.3_Missense_Mutation_p.A162T|BTNL8_ENST00000508408.1_Missense_Mutation_p.R323H|BTNL8_ENST00000231229.4_Missense_Mutation_p.R330H|BTNL8_ENST00000533815.2_Missense_Mutation_p.A103T|BTNL8_ENST00000505126.1_Missense_Mutation_p.A80T|BTNL8_ENST00000511704.1_Missense_Mutation_p.A171T	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	287	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R330H(1)|p.A287T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGAAACACGCAGGTACCAA	0.557																																						uc003mmp.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(859-861)GCA>ACA		butyrophilin-like 8 isoform 2 precursor							56.0	62.0	60.0					5																	180376262		2165	3955	6120	SO:0001583	missense	79908					integral to membrane		g.chr5:180376262G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.859G>A	5.37:g.180376262G>A	ENSP00000342197:p.Ala287Thr					BTNL8_uc003mmq.2_Missense_Mutation_p.R330H|BTNL8_uc011dhg.1_Missense_Mutation_p.A162T|BTNL8_uc010jll.2_Missense_Mutation_p.R323H|BTNL8_uc010jlm.2_Missense_Mutation_p.A171T|BTNL8_uc011dhh.1_Missense_Mutation_p.A103T	p.A287T	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1093	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	287			B30.2/SPRY.|Cytoplasmic (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.859G>A	CCDS43413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.780156|1.780156	0.31502|0.31502	.|.	.|.	ENSG00000113303|ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815|ENST00000231229;ENST00000508408	T;T;T;T;T|T;T	0.62364|0.02085	0.03;0.03;0.03;0.03;0.03|4.46;4.48	1.48|1.48	-0.498|-0.498	0.12019|0.12019	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.01661|0.01661	0.0053|0.0053	L|L	0.49126|0.49126	1.545|1.545	0.09310|0.09310	N|N	1|1	D;D;P|P;P	0.67145|0.46578	0.978;0.996;0.82|0.88;0.88	B;D;B|B;B	0.72625|0.19946	0.267;0.978;0.092|0.027;0.027	T|T	0.48139|0.48139	-0.9061|-0.9061	9|9	0.32370|0.51188	T|T	0.25|0.08	.|.	5.7179|5.7179	0.17970|0.17970	0.3354:0.0:0.6646:0.0|0.3354:0.0:0.6646:0.0	.|.	162;171;287|323;330	E9PG07;E9PEF6;Q6UX41|F2Z2B2;A6NEX6	.;.;BTNL8_HUMAN|.;.	T|H	287;162;171;80;103|330;323	ENSP00000342197:A287T;ENSP00000383543:A162T;ENSP00000425207:A171T;ENSP00000427441:A80T;ENSP00000435098:A103T|ENSP00000231229:R330H;ENSP00000424585:R323H	ENSP00000342197:A287T|ENSP00000231229:R330H	A|R	+|+	1|2	0|0	BTNL8|BTNL8	180308868|180308868	0.087000|0.087000	0.21565|0.21565	0.001000|0.001000	0.08648|0.08648	0.542000|0.542000	0.35054|0.35054	-0.065000|-0.065000	0.11617|0.11617	-0.172000|-0.172000	0.10779|0.10779	0.423000|0.423000	0.28283|0.28283	GCA|CGC		PASS	0.557	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		10	31	10	31	---	---	---	---
BTN1A1	696	broad.mit.edu	37	6	26505289	26505289	+	Silent	SNP	A	A	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr6:26505289A>T	ENST00000244513.6	+	3	630	c.564A>T	c.(562-564)acA>acT	p.T188T		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	188	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.T188T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TTCCATCTACATCAGAGTCCA	0.488																																						uc003nif.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(562-564)ACA>ACT		butyrophilin, subfamily 1, member A1 precursor							117.0	114.0	115.0					6																	26505289		2203	4300	6503	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26505289A>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.564A>T	6.37:g.26505289A>T							p.T188T	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			3	584	+			188			Extracellular (Potential).|Ig-like V-type 2.		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.564A>T	CCDS4614.1																																																																																				PASS	0.488	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		6	75	6	75	---	---	---	---
MUC21	394263	broad.mit.edu	37	6	30955950	30955950	+	Silent	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr6:30955950C>T	ENST00000376296.3	+	3	1921	c.1680C>T	c.(1678-1680)agC>agT	p.S560S	MUC21_ENST00000486149.2_Silent_p.S106S	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	560	Cytoplasmic tail.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S560S(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGGAGATGAGCGGGAGGAACA	0.597																																						uc003nsh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1678-1680)AGC>AGT		mucin 21 precursor							33.0	37.0	35.0					6																	30955950		1508	2707	4215	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30955950C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1680C>T	6.37:g.30955950C>T						MUC21_uc003nsi.1_RNA	p.S560S	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			3	1931	+			560			Cytoplasmic (Potential).|Cytoplasmic tail.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.1680C>T	CCDS34388.1																																																																																				PASS	0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		6	39	6	39	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31937189	31937189	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr6:31937189C>T	ENST00000375394.2	+	27	3645	c.3532C>T	c.(3532-3534)Cgg>Tgg	p.R1178W	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.R985W|STK19_ENST00000375331.2_5'Flank|STK19_ENST00000375333.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1178					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.R1178W(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGAGTGGGCCCGGGGCATGGT	0.577																																						uc003nyn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(3532-3534)CGG>TGG		superkiller viralicidic activity 2-like homolog							103.0	102.0	103.0					6																	31937189		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31937189C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3532C>T	6.37:g.31937189C>T	ENSP00000364543:p.Arg1178Trp					SKIV2L_uc011dou.1_Missense_Mutation_p.R1020W|SKIV2L_uc011dov.1_Missense_Mutation_p.R985W|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	p.R1178W	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			27	3921	+			1178					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3532C>T	CCDS4731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.52|18.52	3.641896|3.641896	0.67244|0.67244	.|.	.|.	ENSG00000204351|ENSG00000204351	ENST00000491994|ENST00000375394;ENST00000433155;ENST00000544581	.|T;T	.|0.25250	.|1.81;1.81	5.29|5.29	3.37|3.37	0.38596|0.38596	.|DSH, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44561|0.44561	0.1299|0.1299	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.70935	.|0.971	T|T	0.56733|0.56733	-0.7930|-0.7930	5|10	.|0.87932	.|D	.|0	-28.4233|-28.4233	13.0433|13.0433	0.58913|0.58913	0.2901:0.7099:0.0:0.0|0.2901:0.7099:0.0:0.0	.|.	.|1178	.|Q15477	.|SKIV2_HUMAN	L|W	176|1178;1020;985	.|ENSP00000364543:R1178W;ENSP00000442645:R985W	.|ENSP00000364543:R1178W	P|R	+|+	2|1	0|2	SKIV2L|SKIV2L	32045168|32045168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.766000|1.766000	0.38491|0.38491	1.192000|1.192000	0.43071|0.43071	0.655000|0.655000	0.94253|0.94253	CCG|CGG		PASS	0.577	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			3	47	3	47	---	---	---	---
PGK2	5232	broad.mit.edu	37	6	49754268	49754268	+	Silent	SNP	T	T	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr6:49754268T>A	ENST00000304801.3	-	1	785	c.633A>T	c.(631-633)atA>atT	p.I211I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	211					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.I211I(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCACCAAGTATAGCCAGAA	0.428																																						uc003ozu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(631-633)ATA>ATT		phosphoglycerate kinase 2							123.0	119.0	120.0					6																	49754268		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754268T>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.633A>T	6.37:g.49754268T>A							p.I211I	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	740	-	Lung NSC(77;0.0402)		211					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.633A>T	CCDS4930.1																																																																																				PASS	0.428	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			12	159	12	159	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90571877	90571877	+	RNA	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr6:90571877A>G	ENST00000551025.1	+	0	1886									caspase 8 associated protein 2									p.H150R(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CGAAATAATCATAAAACTGCA	0.274																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(448-450)CAT>CGT		caspase 8 associated protein 2							46.0	41.0	43.0					6																	90571877		1801	4068	5869			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90571877A>G	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90571877A>G						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.H150R|CASP8AP2_uc011dzz.1_Missense_Mutation_p.H150R	p.H150R	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	645	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	150						Missense_Mutation	SNP	ENST00000551025.1	37	c.449A>G																																																																																					PASS	0.274	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		6	42	6	42	---	---	---	---
FRK	2444	broad.mit.edu	37	6	116289818	116289818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr6:116289818G>T	ENST00000606080.1	-	3	997	c.551C>A	c.(550-552)tCa>tAa	p.S184*	FRK_ENST00000538210.1_Nonsense_Mutation_p.S42*	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	184	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S184*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GTTCAGTGTTGAAAAGATTCT	0.413																																						uc003pwi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(3)	6						c.(550-552)TCA>TAA		fyn-related kinase							161.0	152.0	155.0					6																	116289818		2203	4300	6503	SO:0001587	stop_gained	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116289818G>T	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.551C>A	6.37:g.116289818G>T	ENSP00000476145:p.Ser184*						p.S184*	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	3	998	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	184			SH2.		B4DY49|Q13128|Q9NTR5	Nonsense_Mutation	SNP	ENST00000606080.1	37	c.551C>A	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421499	0.42918	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	.	.	.	5.88	4.93	0.64822	.	1.222130	0.05813	N	0.614346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.477	0.61314	0.0:0.0:0.7838:0.2162	.	.	.	.	X	184;42	.	ENSP00000357615:S184X	S	-	2	0	FRK	116396511	0.859000	0.29813	0.656000	0.29637	0.169000	0.22640	2.061000	0.41403	2.790000	0.95986	0.591000	0.81541	TCA		PASS	0.413	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		27	151	27	151	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130530728	130530728	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr6:130530728G>C	ENST00000368134.2	-	7	903	c.295C>G	c.(295-297)Cca>Gca	p.P99A	SAMD3_ENST00000457563.2_Missense_Mutation_p.P123A|SAMD3_ENST00000439090.2_Missense_Mutation_p.P99A|SAMD3_ENST00000324172.6_Missense_Mutation_p.P99A|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.P99A|SAMD3_ENST00000532763.1_Missense_Mutation_p.P97A	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	99								p.P99A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGCCTGGCTGGACTGGAGGAC	0.468																																						uc003qbv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(295-297)CCA>GCA		sterile alpha motif domain containing 3 isoform							110.0	102.0	105.0					6																	130530728		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130530728G>C	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.295C>G	6.37:g.130530728G>C	ENSP00000357116:p.Pro99Ala					SAMD3_uc003qbx.2_Missense_Mutation_p.P99A|SAMD3_uc003qbw.2_Missense_Mutation_p.P99A|SAMD3_uc010kfg.1_Missense_Mutation_p.P99A|SAMD3_uc003qby.2_Missense_Mutation_p.P99A|SAMD3_uc003qbz.1_Missense_Mutation_p.P58A	p.P99A	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	6	621	-			99					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.295C>G	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	G	3.399	-0.122715	0.06795	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.46063	0.89;0.88;0.89;0.89;0.94;0.92;0.93;0.9;0.92	5.63	3.81	0.43845	.	0.567189	0.17045	N	0.189163	T	0.19327	0.0464	M	0.62723	1.935	0.09310	N	0.999998	B;B;B;B	0.25719	0.004;0.132;0.003;0.016	B;B;B;B	0.17098	0.004;0.017;0.006;0.007	T	0.11542	-1.0583	10	0.49607	T	0.09	.	6.8422	0.23969	0.1363:0.1669:0.6968:0.0	.	123;99;99;99	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	A	99;123;99;99;97;99;99;99;97	ENSP00000357116:P99A;ENSP00000402092:P123A;ENSP00000403565:P99A;ENSP00000391163:P99A;ENSP00000436088:P97A;ENSP00000324874:P99A;ENSP00000436115:P99A;ENSP00000435875:P99A;ENSP00000434139:P97A	ENSP00000324874:P99A	P	-	1	0	SAMD3	130572421	0.002000	0.14202	0.528000	0.27938	0.024000	0.10985	0.093000	0.15086	1.509000	0.48786	-0.176000	0.13171	CCA		PASS	0.468	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		12	69	12	69	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146625878	146625878	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr6:146625878C>G	ENST00000282753.1	+	3	1317	c.1082C>G	c.(1081-1083)aCt>aGt	p.T361S	GRM1_ENST00000492807.2_Missense_Mutation_p.T361S|GRM1_ENST00000507907.1_Missense_Mutation_p.T361S|GRM1_ENST00000355289.4_Missense_Mutation_p.T361S|GRM1_ENST00000392299.2_Missense_Mutation_p.T361S|GRM1_ENST00000361719.2_Missense_Mutation_p.T361S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	361					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.T361S(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGGCTGGACACTAACACGAGG	0.498																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1081-1083)ACT>AGT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						129.0	111.0	117.0					6																	146625878		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625878C>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1082C>G	6.37:g.146625878C>G	ENSP00000282753:p.Thr361Ser					GRM1_uc010khv.1_Missense_Mutation_p.T361S|GRM1_uc003qll.2_Missense_Mutation_p.T361S|GRM1_uc011edz.1_Missense_Mutation_p.T361S|GRM1_uc011eea.1_Missense_Mutation_p.T361S	p.T361S	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1552	+		Ovarian(120;0.0387)	361			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1082C>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338963	0.60963	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.050801	0.85682	D	0.000000	T	0.80639	0.4661	L	0.59436	1.845	0.80722	D	1	B;B;B	0.22146	0.065;0.051;0.065	B;B;B	0.23852	0.02;0.049;0.02	T	0.75255	-0.3382	10	0.49607	T	0.09	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	361;361;361	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	S	361	ENSP00000354896:T361S;ENSP00000376119:T361S;ENSP00000424095:T361S;ENSP00000282753:T361S;ENSP00000347437:T361S;ENSP00000425599:T361S	ENSP00000282753:T361S	T	+	2	0	GRM1	146667571	1.000000	0.71417	0.980000	0.43619	0.958000	0.62258	4.706000	0.61845	2.880000	0.98712	0.650000	0.86243	ACT		PASS	0.498	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		13	85	13	85	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165711504	165711504	+	Silent	SNP	G	G	A	rs199716970	byFrequency	TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr6:165711504G>A	ENST00000230301.8	-	5	1043	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	C6orf118_ENST00000543069.1_Silent_p.L237L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	341								p.L341L(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGGCTGTCACGAGCATCCTCA	0.562													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15698	0.0		0.0	False		,,,				2504	0.0					uc003qum.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1021-1023)CTC>CTT		hypothetical protein LOC168090							160.0	128.0	139.0					6																	165711504		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165711504G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1023C>T	6.37:g.165711504G>A						C6orf118_uc011egi.1_RNA	p.L341L	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	5	1059	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	341					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.1023C>T	CCDS5288.1																																																																																				PASS	0.562	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		19	127	19	127	---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6038907	6038907	+	Splice_Site	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:6038907C>A	ENST00000265849.7	-	6	643		c.e6-1		PMS2_ENST00000382321.4_Splice_Site|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000441476.2_Splice_Site	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGGCATACTCCTGTTTAAAAA	0.393			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			1	Unknown(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.e6-1	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							108.0	98.0	102.0					7																	6038907		2203	4300	6503	SO:0001630	splice_region_variant	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6038907C>A		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.538-1G>T	7.37:g.6038907C>A						PMS2_uc003spj.2_Splice_Site_p.E74_splice|PMS2_uc003spk.2_Splice_Site_p.E45_splice|PMS2_uc011jwl.1_Splice_Site_p.E45_splice|PMS2_uc010ktg.2_Intron|PMS2_uc010kte.2_Splice_Site_p.E180_splice|PMS2_uc010ktf.1_Splice_Site_p.E180_splice	p.E180_splice	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	6	625	-		Ovarian(82;0.0694)						B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Splice_Site	SNP	ENST00000265849.7	37	c.538_splice	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.378763	0.82682	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476;ENST00000406569	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7284	0.96174	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PMS2	6005433	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.390000	0.79816	2.668000	0.90789	0.591000	0.81541	.		PASS	0.393	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	Intron	5	61	5	61	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48550793	48550793	+	Missense_Mutation	SNP	C	C	A	rs373145026		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:48550793C>A	ENST00000435803.1	+	51	13662	c.13638C>A	c.(13636-13638)ttC>ttA	p.F4546L	ABCA13_ENST00000544596.1_Missense_Mutation_p.F276L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4546					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F4546L(1)|p.F4491L(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						TGTCACTTTTCGGGTATGTGA	0.483																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(13636-13638)TTC>TTA		ATP binding cassette, sub-family A (ABC1),							80.0	74.0	76.0					7																	48550793		1945	4157	6102	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48550793C>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.13638C>A	7.37:g.48550793C>A	ENSP00000411096:p.Phe4546Leu					ABCA13_uc010kys.1_Missense_Mutation_p.F1621L|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.F276L	p.F4546L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			51	13663	+			4546			Helical; (Potential).		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13638C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028253	0.75390	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.84873	-1.91;-1.91;-1.91	5.17	3.35	0.38373	.	0.000000	0.50627	D	0.000110	D	0.91036	0.7180	M	0.83223	2.63	0.41343	D	0.987318	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.89916	0.4055	10	0.87932	D	0	.	7.4061	0.26991	0.0:0.7162:0.0:0.2838	.	276;2248;4546	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	L	4546;319;276	ENSP00000411096:F4546L;ENSP00000391042:F319L;ENSP00000442634:F276L	ENSP00000391042:F319L	F	+	3	2	ABCA13	48521339	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.786000	0.26844	0.656000	0.30886	0.563000	0.77884	TTC		PASS	0.483	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	67	3	67	---	---	---	---
LANCL2	55915	broad.mit.edu	37	7	55493059	55493059	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:55493059G>A	ENST00000254770.2	+	7	1699	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	374					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.G374D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GCTGGCAACGGCTATTCCTTC	0.532																																						uc003tqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1120-1122)GGC>GAC		LanC lantibiotic synthetase component C-like 2							197.0	173.0	181.0					7																	55493059		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55493059G>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1121G>A	7.37:g.55493059G>A	ENSP00000254770:p.Gly374Asp						p.G374D	NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		7	1699	+	Breast(14;0.0379)		374					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.1121G>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897892	0.72639	.	.	ENSG00000132434	ENST00000254770	T	0.46819	0.86	5.5	5.5	0.81552	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.096274	0.64402	D	0.000001	T	0.74238	0.3690	M	0.88775	2.98	0.58432	D	0.999994	D	0.71674	0.998	D	0.71656	0.974	T	0.79082	-0.1949	10	0.87932	D	0	.	18.3293	0.90263	0.0:0.0:1.0:0.0	.	374	Q9NS86	LANC2_HUMAN	D	374	ENSP00000254770:G374D	ENSP00000254770:G374D	G	+	2	0	LANCL2	55460553	1.000000	0.71417	0.998000	0.56505	0.623000	0.37688	2.833000	0.48159	2.741000	0.93983	0.650000	0.86243	GGC		PASS	0.532	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		4	117	4	117	---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75051114	75051114	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:75051114G>A	ENST00000257665.5	-	11	3146	c.3147C>T	c.(3145-3147)acC>acT	p.T1049T	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Silent_p.T807T			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1049	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)		p.T807T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AGCCGGAGCTGGTGGCTGCAC	0.647																																						uc003udk.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2419-2421)ACC>ACT		POM121 membrane glycoprotein (rat)-like																																				SO:0001819	synonymous_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051114G>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3147C>T	7.37:g.75051114G>A							p.T807T	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			13	3306	-			1049			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000257665.5	37	c.2421C>T																																																																																					PASS	0.647	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		6	87	6	87	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81714198	81714198	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:81714198T>G	ENST00000356253.5	-	7	800	c.545A>C	c.(544-546)gAa>gCa	p.E182A	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.E182A|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.E182A			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	182					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E182A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCAGTTGAGTTCATTTAACAC	0.328																																						uc003uhr.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(544-546)GAA>GCA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						92.0	88.0	89.0					7																	81714198		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81714198T>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.545A>C	7.37:g.81714198T>G	ENSP00000348589:p.Glu182Ala						p.E182A	NM_000722	NP_000713	P54289	CA2D1_HUMAN			7	801	-			182			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.545A>C		.	.	.	.	.	.	.	.	.	.	T	18.32	3.597352	0.66332	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.21543	3.34;3.34;2.0	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.31157	0.91	0.80722	D	1	P	0.36110	0.537	P	0.45794	0.493	T	0.01428	-1.1357	10	0.02654	T	1	-33.1322	16.1061	0.81223	0.0:0.0:0.0:1.0	.	182	P54289-2	.	A	182	ENSP00000349320:E182A;ENSP00000348589:E182A;ENSP00000405395:E182A	ENSP00000284088:E182A	E	-	2	0	CACNA2D1	81552134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.891000	0.87319	2.284000	0.76573	0.528000	0.53228	GAA		PASS	0.328	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				9	74	9	74	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415818	86415818	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:86415818G>C	ENST00000361669.2	+	3	1809	c.710G>C	c.(709-711)cGc>cCc	p.R237P	GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R235P|GRM3_ENST00000439827.1_Missense_Mutation_p.R237P|GRM3_ENST00000536043.1_Missense_Mutation_p.R109P|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	237					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.R237P(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)					GCCCGCCTGCGCAACATCTGC	0.607																																					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.(709-711)CGC>CCC		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						52.0	51.0	51.0					7																	86415818		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415818G>C		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.710G>C	7.37:g.86415818G>C	ENSP00000355316:p.Arg237Pro					GRM3_uc010lef.2_Missense_Mutation_p.R235P|GRM3_uc010leg.2_Missense_Mutation_p.R109P|GRM3_uc010leh.2_Intron	p.R237P	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1809	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		237			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.710G>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363783	0.82353	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79108	0.987;0.992;0.992	D	0.93014	0.6434	10	0.46703	T	0.11	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	109;237;237	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	P	237;109;109;237;235	ENSP00000355316:R237P;ENSP00000405427:R109P;ENSP00000441407:R109P;ENSP00000398767:R237P;ENSP00000378209:R235P	ENSP00000355316:R237P	R	+	2	0	GRM3	86253754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	CGC		PASS	0.607	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			8	61	8	61	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87072693	87072693	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:87072693C>T	ENST00000265723.4	-	12	1409	c.1298G>A	c.(1297-1299)tGt>tAt	p.C433Y	ABCB4_ENST00000545634.1_Missense_Mutation_p.C433Y|ABCB4_ENST00000453593.1_Missense_Mutation_p.C433Y|ABCB4_ENST00000358400.3_Missense_Mutation_p.C433Y|ABCB4_ENST00000359206.3_Missense_Mutation_p.C433Y	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	433	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.C433Y(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCTCTTCCCACAGCCACTACT	0.517																																						uc003uiv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(1297-1299)TGT>TAT		ATP-binding cassette, subfamily B, member 4							145.0	134.0	137.0					7																	87072693		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87072693C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1298G>A	7.37:g.87072693C>T	ENSP00000265723:p.Cys433Tyr					ABCB4_uc003uiw.1_Missense_Mutation_p.C433Y|ABCB4_uc003uix.1_Missense_Mutation_p.C433Y	p.C433Y	NM_018849	NP_061337	P21439	MDR3_HUMAN			12	1374	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		433			ABC transporter 1.|Cytoplasmic (By similarity).|ATP 1 (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1298G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	c	18.27	3.586667	0.66105	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.05	4.17	0.49024	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.046440	0.85682	D	0.000000	D	0.96716	0.8928	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.994;0.987	D	0.97007	0.9733	10	0.87932	D	0	-5.8125	13.2416	0.59999	0.0:0.9226:0.0:0.0774	.	433;433;433	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Y	433	ENSP00000352135:C433Y;ENSP00000351172:C433Y;ENSP00000265723:C433Y;ENSP00000392983:C433Y;ENSP00000437465:C433Y	ENSP00000265723:C433Y	C	-	2	0	ABCB4	86910629	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.675000	0.46875	1.116000	0.41820	0.467000	0.42956	TGT		PASS	0.517	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		43	183	43	183	---	---	---	---
BET1	10282	broad.mit.edu	37	7	93623548	93623548	+	Silent	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:93623548C>A	ENST00000222547.3	-	4	509	c.351G>T	c.(349-351)ctG>ctT	p.L117L	AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000471446.1_Intron|BET1_ENST00000433727.1_Intron|AC006378.2_ENST00000426193.2_RNA	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein	117					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)|vesicle fusion with Golgi apparatus (GO:0048280)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L117L(1)		large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			TGCATCACCTCAGTTTAATAA	0.328																																						uc003unf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(349-351)CTG>CTT		blocked early in transport 1							62.0	62.0	62.0					7																	93623548		2202	4298	6500	SO:0001819	synonymous_variant	10282				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr7:93623548C>A	AF007551	CCDS5635.1	7q21.1-q22	2013-03-08	2013-03-08		ENSG00000105829	ENSG00000105829			14562	protein-coding gene	gene with protein product	"""Golgi vesicular membrane trafficking protein p18"", ""Bet1p homolog"""	605456	"""Bet1 (S. cerevisiae) homolog"", ""BET1 homolog (S. cerevisiae)"", ""blocked early in transport 1 homolog (S. cerevisiae)"""			9382863, 10449330	Standard	XM_005250109		Approved	hbet1	uc003unf.1	O15155	OTTHUMG00000023487	ENST00000222547.3:c.351G>T	7.37:g.93623548C>A						BET1_uc003une.3_Intron	p.L117L	NM_005868	NP_005859	O15155	BET1_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		4	513	-	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	117			Vesicular (Potential).		Q96EA0	Silent	SNP	ENST00000222547.3	37	c.351G>T	CCDS5635.1	.	.	.	.	.	.	.	.	.	.	C	8.112	0.778985	0.16120	.	.	ENSG00000105829	ENST00000457139	.	.	.	4.41	0.141	0.14811	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7754	0.23617	0.0:0.6237:0.1551:0.2211	.	.	.	.	X	132	.	.	E	-	1	0	BET1	93461484	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.524000	0.35942	0.014000	0.14944	0.650000	0.86243	GAG		PASS	0.328	BET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255181.2	NM_005868		7	37	7	37	---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107692543	107692543	+	Splice_Site	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:107692543C>T	ENST00000388781.3	-	26	3998	c.3915G>A	c.(3913-3915)gcG>gcA	p.A1305A	LAMB4_ENST00000205386.4_Splice_Site_p.A1305A|LAMB4_ENST00000388780.3_Splice_Site_p.A1305A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1305	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A1305A(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCCCTTACCCGCAATGCTTG	0.408																																						uc010ljo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(3913-3915)GCG>GCA		laminin, beta 4 precursor							160.0	151.0	154.0					7																	107692543		2203	4300	6503	SO:0001630	splice_region_variant	22798				cell adhesion	basement membrane		g.chr7:107692543C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3916+1G>A	7.37:g.107692543C>T						LAMB4_uc003vey.2_Silent_p.A1305A|LAMB4_uc010ljp.1_Silent_p.A274A	p.A1305A	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			26	3999	-			1305			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.3915G>A	CCDS34732.1																																																																																				PASS	0.408	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	Silent	25	123	25	123	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122759214	122759214	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr7:122759214G>C	ENST00000194130.2	-	13	1472	c.1433C>G	c.(1432-1434)tCt>tGt	p.S478C	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	478					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.S478C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CACCATCAAAGAAGATATCAG	0.373																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1432-1434)TCT>TGT		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						104.0	105.0	105.0					7																	122759214		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122759214G>C		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1433C>G	7.37:g.122759214G>C	ENSP00000194130:p.Ser478Cys					SLC13A1_uc010lks.2_Missense_Mutation_p.S354C	p.S478C	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			13	1458	-			478			Helical; (Potential).		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1433C>G	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445175	0.04604	.	.	ENSG00000081800	ENST00000194130	T	0.03301	3.98	5.68	3.71	0.42584	.	0.148402	0.64402	N	0.000009	T	0.01800	0.0057	N	0.03281	-0.365	0.80722	D	1	B;B	0.18863	0.031;0.031	B;B	0.18263	0.021;0.021	T	0.39078	-0.9631	10	0.02654	T	1	-20.4996	14.0972	0.65029	0.0:0.4941:0.5059:0.0	.	478;478	A4D0X1;Q9BZW2	.;S13A1_HUMAN	C	478	ENSP00000194130:S478C	ENSP00000194130:S478C	S	-	2	0	SLC13A1	122546450	0.997000	0.39634	0.929000	0.37066	0.901000	0.52897	1.404000	0.34623	1.331000	0.45412	0.591000	0.81541	TCT		PASS	0.373	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		18	75	18	75	---	---	---	---
DUSP4	1846	broad.mit.edu	37	8	29194783	29194783	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr8:29194783G>T	ENST00000240100.2	-	4	1334	c.945C>A	c.(943-945)agC>agA	p.S315R	DUSP4_ENST00000240101.2_Missense_Mutation_p.S224R	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	315	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.S224R(1)|p.S315S(1)|p.S315R(1)		endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCGAGATGATGCTGCGGCGCT	0.637																																						uc003xhm.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)	p.S315S(1)	lung(3)	lung(1)	1						c.(943-945)AGC>AGA		dual specificity phosphatase 4 isoform 1							71.0	59.0	63.0					8																	29194783		2203	4300	6503	SO:0001583	missense	1846				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29194783G>T	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.945C>A	8.37:g.29194783G>T	ENSP00000240100:p.Ser315Arg					DUSP4_uc003xhl.2_Missense_Mutation_p.S224R	p.S315R	NM_001394	NP_001385	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	4	1335	-			315			Tyrosine-protein phosphatase.		B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	c.945C>A	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950678	0.73787	.	.	ENSG00000120875	ENST00000240100;ENST00000240101	T;T	0.60548	0.18;0.18	4.67	1.86	0.25419	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	L	0.41124	1.26	0.80722	D	1	D;P	0.89917	1.0;0.773	D;B	0.91635	0.999;0.229	T	0.60707	-0.7210	10	0.59425	D	0.04	.	8.7134	0.34397	0.2559:0.0:0.7441:0.0	.	315;224	Q13115;G5E930	DUS4_HUMAN;.	R	315;224	ENSP00000240100:S315R;ENSP00000240101:S224R	ENSP00000240100:S315R	S	-	3	2	DUSP4	29250702	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	4.065000	0.57513	0.259000	0.21709	0.462000	0.41574	AGC		PASS	0.637	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		3	63	3	63	---	---	---	---
ZBTB10	65986	broad.mit.edu	37	8	81412419	81412419	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr8:81412419A>G	ENST00000430430.1	+	3	2442	c.1663A>G	c.(1663-1665)Aca>Gca	p.T555A	ZBTB10_ENST00000426744.2_Missense_Mutation_p.T555A|ZBTB10_ENST00000455036.3_Missense_Mutation_p.T555A|ZBTB10_ENST00000379091.4_Missense_Mutation_p.T263A	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	555					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.T555A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGAAGGTCAAACAAAAGTGTT	0.368																																						uc003ybx.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1663-1665)ACA>GCA		zinc finger and BTB domain containing 10 isoform							45.0	44.0	44.0					8																	81412419		1829	4078	5907	SO:0001583	missense	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81412419A>G	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1663A>G	8.37:g.81412419A>G	ENSP00000387462:p.Thr555Ala					ZBTB10_uc003ybv.3_Missense_Mutation_p.T263A|ZBTB10_uc003ybw.3_Missense_Mutation_p.T555A|ZBTB10_uc010lzt.2_Missense_Mutation_p.T555A	p.T555A	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		2	2261	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		555					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	c.1663A>G	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	A	8.783	0.928617	0.18131	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.10382	2.91;2.88;2.88;2.9	5.71	0.38	0.16222	.	0.365269	0.27375	N	0.019652	T	0.03915	0.0110	N	0.14661	0.345	0.25813	N	0.984376	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.0;0.001;0.001;0.002	T	0.42396	-0.9454	10	0.06625	T	0.88	.	3.9964	0.09559	0.3425:0.0:0.4518:0.2057	.	411;555;555;263	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	A	263;555;555;555;383	ENSP00000368384:T263A;ENSP00000387462:T555A;ENSP00000412036:T555A;ENSP00000416134:T555A	ENSP00000368384:T263A	T	+	1	0	ZBTB10	81574974	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.026000	0.41069	0.453000	0.26858	0.528000	0.53228	ACA		PASS	0.368	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		3	29	3	29	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106815541	106815541	+	Silent	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr8:106815541G>T	ENST00000407775.2	+	8	3481	c.3231G>T	c.(3229-3231)tcG>tcT	p.S1077S	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.S945S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.S945S|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.S808S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1077					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1077S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATCTCCCTCGTGGATCTCTG	0.478																																						uc003ymd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(3229-3231)TCG>TCT		zinc finger protein, multitype 2							56.0	56.0	56.0					8																	106815541		1929	4130	6059	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815541G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3231G>T	8.37:g.106815541G>T						ZFPM2_uc011lhs.1_Silent_p.S808S	p.S1077S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3254	+			1077					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.3231G>T	CCDS47908.1																																																																																				PASS	0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	36	7	36	---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145745252	145745252	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr8:145745252G>A	ENST00000292524.1	+	2	289	c.143G>A	c.(142-144)cGc>cAc	p.R48H	RECQL4_ENST00000532237.1_5'Flank|RECQL4_ENST00000428558.2_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R48H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	48								p.R48H(1)		endometrium(1)|lung(3)|prostate(1)	5	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)			GTGGTACTGCGCGAGTTGGTA	0.637																																						uc003zdk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)CGC>CAC		leucine rich repeat containing 14							101.0	98.0	99.0					8																	145745252		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145745252G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.143G>A	8.37:g.145745252G>A	ENSP00000292524:p.Arg48His					RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R48H|LRRC14_uc003zdo.2_5'Flank	p.R48H	NM_014665	NP_055480	Q15048	LRC14_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)		2	289	+	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)		48					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.143G>A	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	9.318	1.057268	0.19907	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.43294	2.28;5.08;5.08;0.95;0.96	4.66	1.65	0.23941	.	0.393157	0.26220	N	0.025635	T	0.25044	0.0608	L	0.34521	1.04	0.20074	N	0.999934	P	0.49696	0.927	B	0.39465	0.3	T	0.11941	-1.0567	10	0.38643	T	0.18	.	5.4832	0.16735	0.4526:0.0:0.5474:0.0	.	48	Q15048	LRC14_HUMAN	H	48	ENSP00000436452:R48H;ENSP00000434768:R48H;ENSP00000292524:R48H;ENSP00000435985:R48H;ENSP00000434738:R48H	ENSP00000292524:R48H	R	+	2	0	LRRC14	145716060	0.571000	0.26659	0.055000	0.19348	0.697000	0.40408	1.183000	0.32041	0.584000	0.29591	0.462000	0.41574	CGC		PASS	0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		14	97	14	97	---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107266678	107266678	+	Silent	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr9:107266678G>T	ENST00000334726.2	+	1	224	c.135G>T	c.(133-135)ctG>ctT	p.L45L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L45L(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACATTTTTCTGATCTCCATCA	0.468																																						uc011lvm.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(133-135)CTG>CTT		olfactory receptor, family 13, subfamily F,							188.0	158.0	168.0					9																	107266678		2203	4300	6503	SO:0001819	synonymous_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266678G>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.135G>T	9.37:g.107266678G>T							p.L45L	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	135	+			45			Helical; Name=1; (Potential).		Q6IF50	Silent	SNP	ENST00000334726.2	37	c.135G>T	CCDS35087.1																																																																																				PASS	0.468	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			22	132	22	132	---	---	---	---
OBP2B	29989	broad.mit.edu	37	9	136081733	136081733	+	Silent	SNP	C	C	T	rs182264908		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr9:136081733C>T	ENST00000372034.3	-	5	500	c.459G>A	c.(457-459)tcG>tcA	p.S153S	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	153					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.S153S(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TGTCCTCCTCCGAGAGTCCCT	0.582																																						uc004ccz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)TCG>TCA		odorant binding protein 2B precursor							151.0	141.0	144.0					9																	136081733		2203	4300	6503	SO:0001819	synonymous_variant	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081733C>T	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.459G>A	9.37:g.136081733C>T						OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Silent_p.S85S	p.S153S	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	501	-			153					Q5VSP6|Q9NY51|Q9NY52	Silent	SNP	ENST00000372034.3	37	c.459G>A	CCDS6961.1																																																																																				PASS	0.582	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		7	90	7	90	---	---	---	---
NDOR1	27158	broad.mit.edu	37	9	140110455	140110455	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr9:140110455T>C	ENST00000344894.5	+	12	1623	c.1540T>C	c.(1540-1542)Ttc>Ctc	p.F514L	NDOR1_ENST00000427047.2_Missense_Mutation_p.F480L|NDOR1_ENST00000371521.4_Missense_Mutation_p.F514L|NDOR1_ENST00000458322.2_Missense_Mutation_p.F507L	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1									p.F514L(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CATCCCTGCCTTCTCCCGGGA	0.617																																						uc004clw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1540-1542)TTC>CTC		NADPH dependent diflavin oxidoreductase 1							75.0	82.0	80.0					9																	140110455		2203	4300	6503	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140110455T>C	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1540T>C	9.37:g.140110455T>C	ENSP00000343344:p.Phe514Leu					NDOR1_uc004clx.2_Missense_Mutation_p.F514L|NDOR1_uc011mes.1_Missense_Mutation_p.F507L|NDOR1_uc004cly.2_Missense_Mutation_p.F480L	p.F514L	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	12	1651	+	all_cancers(76;0.0926)		514						Missense_Mutation	SNP	ENST00000344894.5	37	c.1540T>C	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437883	0.83885	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.78246	-1.16;3.6;-1.16;-1.16	4.3	4.3	0.51218	Oxidoreductase FAD/NAD(P)-binding (1);	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.997;0.999	D	0.91062	0.4886	10	0.87932	D	0	-0.1886	11.43	0.50034	0.0:0.0:0.0:1.0	.	507;480;514;514	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	L	507;480;514;514	ENSP00000389905:F507L;ENSP00000394309:F480L;ENSP00000360576:F514L;ENSP00000343344:F514L	ENSP00000343344:F514L	F	+	1	0	NDOR1	139230276	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	6.874000	0.75546	1.807000	0.52817	0.459000	0.35465	TTC		PASS	0.617	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		7	131	7	131	---	---	---	---
CALML5	51806	broad.mit.edu	37	10	5541037	5541037	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:5541037A>G	ENST00000380332.3	-	1	496	c.365T>C	c.(364-366)aTg>aCg	p.M122T		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	122	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epidermis development (GO:0008544)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.M122T(1)		biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CTCGCGGATCATGGCGTCCAG	0.711																																					GBM(149;1055 3356 43077)	uc001iic.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)ATG>ACG		calmodulin-like 5							20.0	20.0	20.0					10																	5541037		2199	4296	6495	SO:0001583	missense	51806				epidermis development|signal transduction		calcium ion binding|protein binding	g.chr10:5541037A>G	AF172852	CCDS7068.1	10p15.1	2013-01-10			ENSG00000178372	ENSG00000178372		"""EF-hand domain containing"""	18180	protein-coding gene	gene with protein product	"""calmodulin-like skin protein"""	605183				10777582	Standard	NM_017422		Approved	CLSP	uc001iic.2	Q9NZT1	OTTHUMG00000017598	ENST00000380332.3:c.365T>C	10.37:g.5541037A>G	ENSP00000369689:p.Met122Thr						p.M122T	NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN			1	497	-			122			EF-hand 4.		Q5SQI3|Q8IXU8	Missense_Mutation	SNP	ENST00000380332.3	37	c.365T>C	CCDS7068.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783183	0.49891	.	.	ENSG00000178372	ENST00000380332	T	0.39229	1.09	4.68	4.68	0.58851	EF-hand-like domain (1);	0.078118	0.53938	D	0.000046	T	0.61400	0.2344	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.65747	-0.6093	10	0.87932	D	0	-69.374	12.208	0.54363	1.0:0.0:0.0:0.0	.	122	Q9NZT1	CALL5_HUMAN	T	122	ENSP00000369689:M122T	ENSP00000369689:M122T	M	-	2	0	CALML5	5531037	1.000000	0.71417	0.972000	0.41901	0.014000	0.08584	7.136000	0.77285	2.052000	0.61016	0.533000	0.62120	ATG		PASS	0.711	CALML5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046556.1	NM_017422		7	18	7	18	---	---	---	---
KIF5B	3799	broad.mit.edu	37	10	32320185	32320185	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:32320185T>C	ENST00000302418.4	-	14	1854	c.1397A>G	c.(1396-1398)gAt>gGt	p.D466G		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	466					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.D466G(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATTGTCTTGATCCCTTCTGGT	0.383			T	"""RET, ALK"""	NSCLC																																	uc001iwe.3				Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(1396-1398)GAT>GGT		kinesin family member 5B							87.0	81.0	83.0					10																	32320185		2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32320185T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1397A>G	10.37:g.32320185T>C	ENSP00000307078:p.Asp466Gly						p.D466G	NM_004521	NP_004512	P33176	KINH_HUMAN			14	1867	-		Prostate(175;0.0137)	466					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1397A>G	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	32	5.107119	0.94292	.	.	ENSG00000170759	ENST00000302418	D	0.83335	-1.71	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	M	0.66439	2.03	0.80722	D	1	D	0.58268	0.982	P	0.52598	0.703	D	0.87321	0.2318	10	0.49607	T	0.09	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	466	P33176	KINH_HUMAN	G	466	ENSP00000307078:D466G	ENSP00000307078:D466G	D	-	2	0	KIF5B	32360191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAT		PASS	0.383	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		3	37	3	37	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55626456	55626456	+	Silent	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:55626456T>C	ENST00000320301.6	-	27	4057	c.3663A>G	c.(3661-3663)caA>caG	p.Q1221Q	PCDH15_ENST00000361849.3_Silent_p.Q1221Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Silent_p.Q1226Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Silent_p.Q1228Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.Q1184Q|PCDH15_ENST00000409834.1_Silent_p.Q832Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.Q1150Q|PCDH15_ENST00000395438.1_Silent_p.Q1221Q|PCDH15_ENST00000395430.1_Silent_p.Q1221Q|PCDH15_ENST00000395445.1_Silent_p.Q1228Q|PCDH15_ENST00000395433.1_Silent_p.Q1199Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1221	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.Q1221Q(2)|p.Q1226Q(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGCAATAACTTGAAACTTGA	0.408										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3661-3663)CAA>CAG		protocadherin 15 isoform CD1-4 precursor							132.0	115.0	121.0					10																	55626456		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55626456T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3663A>G	10.37:g.55626456T>C		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.Q1226Q|PCDH15_uc010qhr.1_Silent_p.Q1221Q|PCDH15_uc010qhs.1_Silent_p.Q1233Q|PCDH15_uc010qht.1_Silent_p.Q1228Q|PCDH15_uc010qhu.1_Silent_p.Q1221Q|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.Q1221Q|PCDH15_uc010qhw.1_Silent_p.Q1184Q|PCDH15_uc010qhx.1_Silent_p.Q1150Q|PCDH15_uc010qhy.1_Silent_p.Q1226Q|PCDH15_uc010qhz.1_Silent_p.Q1221Q|PCDH15_uc010qia.1_Silent_p.Q1199Q|PCDH15_uc010qib.1_Silent_p.Q1199Q	p.Q1221Q	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			27	4058	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1221			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.3663A>G	CCDS7248.1																																																																																				PASS	0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		3	66	3	66	---	---	---	---
C10orf35	219738	broad.mit.edu	37	10	71392747	71392747	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:71392747A>G	ENST00000373279.4	+	4	457	c.298A>G	c.(298-300)Atg>Gtg	p.M100V	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	100						integral component of membrane (GO:0016021)		p.M100V(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCTGCTCATGATGCTTGGTGT	0.592																																						uc001jpq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(298-300)ATG>GTG		hypothetical protein LOC219738							202.0	152.0	169.0					10																	71392747		2203	4300	6503	SO:0001583	missense	219738					integral to membrane		g.chr10:71392747A>G	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.298A>G	10.37:g.71392747A>G	ENSP00000362376:p.Met100Val						p.M100V	NM_145306	NP_660349	Q96D05	CJ035_HUMAN			4	468	+			100			Helical; (Potential).			Missense_Mutation	SNP	ENST00000373279.4	37	c.298A>G	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955073	0.53293	.	.	ENSG00000171224	ENST00000373279	.	.	.	5.33	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	L	0.45581	1.43	0.33615	D	0.604008	B	0.15473	0.013	B	0.18871	0.023	T	0.55140	-0.8187	9	0.34782	T	0.22	-47.2403	10.7614	0.46266	0.8405:0.1595:0.0:0.0	.	100	Q96D05	CJ035_HUMAN	V	100	.	ENSP00000362376:M100V	M	+	1	0	C10orf35	71062753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.191000	0.50981	0.859000	0.35456	0.459000	0.35465	ATG		PASS	0.592	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		15	124	15	124	---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92508999	92509000	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:92508999_92509000CC>AA	ENST00000336152.3	-	2	917_918	c.891_892GG>TT	c.(889-894)aaGGag>aaTTag	p.297_298KE>N*	HTR7_ENST00000371719.2_Nonsense_Mutation_p.297_298KE>N*|HTR7_ENST00000277874.6_Nonsense_Mutation_p.297_298KE>N*|HTR7_ENST00000371721.3_Nonsense_Mutation_p.297_298KE>N*	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	297					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.E298*(2)|p.K297_E298>N*(2)|p.K297N(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCTTCCACCTCCTTCTGGAGCT	0.525																																						uc001kha.2																			6	Substitution - Nonsense(2)|Substitution - Missense(2)|Complex - compound substitution(2)		lung(6)	ovary(1)	1						c.(892-894)GAG>TAG|c.(889-891)AAG>AAT		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)																																			SO:0001587	stop_gained	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508999C>A|g.chr10:92509000C>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.891_892delinsAA	10.37:g.92508999_92509000delinsAA	ENSP00000337949:p.K297_E298delinsN*					HTR7_uc001kgz.2_Nonsense_Mutation_p.E298*|HTR7_uc001khb.2_Nonsense_Mutation_p.E298*|HTR7_uc001kgz.2_Missense_Mutation_p.K297N|HTR7_uc001khb.2_Missense_Mutation_p.K297N	p.E298*|p.K297N	NM_019859	NP_062873	P34969	5HT7R_HUMAN			2	1135|1134	-			298|297			Cytoplasmic (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000336152.3	37	c.892G>T|c.891G>T	CCDS7408.1																																																																																				PASS	0.525	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		7	52|51	7	51	---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93600414	93600414	+	Missense_Mutation	SNP	G	G	T	rs143595087	byFrequency	TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:93600414G>T	ENST00000371627.4	+	14	2003	c.1624G>T	c.(1624-1626)Gtg>Ttg	p.V542L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	542					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.V542L(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGTGTCCGTGGTGGAATATCT	0.433																																						uc001khp.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(1624-1626)GTG>TTG		tankyrase, TRF1-interacting ankyrin-related							224.0	190.0	202.0					10																	93600414		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93600414G>T	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1624G>T	10.37:g.93600414G>T	ENSP00000360689:p.Val542Leu						p.V542L	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			14	1921	+		Colorectal(252;0.162)	542			ANK 10.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.1624G>T	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482517	0.84747	.	.	ENSG00000107854	ENST00000371627	T	0.70045	-0.45	5.39	5.39	0.77823	Ankyrin repeat-containing domain (4);	0.000000	0.50627	D	0.000105	T	0.65780	0.2724	L	0.41124	1.26	0.80722	D	1	P	0.36010	0.532	B	0.40659	0.336	T	0.66674	-0.5864	10	0.52906	T	0.07	.	19.5244	0.95197	0.0:0.0:1.0:0.0	.	542	Q9H2K2	TNKS2_HUMAN	L	542	ENSP00000360689:V542L	ENSP00000360689:V542L	V	+	1	0	TNKS2	93590394	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.869000	0.99810	2.687000	0.91594	0.655000	0.94253	GTG		PASS	0.433	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		21	101	21	101	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115961240	115961240	+	Missense_Mutation	SNP	G	G	T	rs201551896		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:115961240G>T	ENST00000369280.1	+	5	1061	c.601G>T	c.(601-603)Gca>Tca	p.A201S	TDRD1_ENST00000251864.2_Missense_Mutation_p.A201S|TDRD1_ENST00000369281.2_Missense_Mutation_p.A201S|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.A201S			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	201					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.A201S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGACTGGTCTGCACACAGCAT	0.428																																						uc001lbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)GCA>TCA		tudor domain containing 1							91.0	91.0	91.0					10																	115961240		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115961240G>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.601G>T	10.37:g.115961240G>T	ENSP00000358286:p.Ala201Ser					TDRD1_uc001lbf.2_Missense_Mutation_p.A192S|TDRD1_uc001lbh.1_Missense_Mutation_p.A192S|TDRD1_uc001lbi.1_Missense_Mutation_p.A192S|TDRD1_uc010qsc.1_5'Flank|TDRD1_uc001lbj.2_5'Flank	p.A201S	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	5	754	+		Colorectal(252;0.172)|Breast(234;0.188)	201			MYND-type.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.601G>T		.	.	.	.	.	.	.	.	.	.	G	14.23	2.472277	0.43942	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.18338	3.09;3.08;2.22;3.09	6.17	4.29	0.51040	Zinc finger, MYND-type (3);	0.397237	0.28618	N	0.014717	T	0.08670	0.0215	N	0.11284	0.12	0.58432	D	0.999993	B;B;B;B	0.28419	0.211;0.17;0.176;0.176	B;B;B;B	0.30029	0.076;0.11;0.046;0.037	T	0.24657	-1.0154	10	0.39692	T	0.17	-7.9953	5.7172	0.17966	0.1588:0.0:0.6775:0.1637	.	201;201;201;201	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	S	201	ENSP00000358288:A201S;ENSP00000251864:A201S;ENSP00000358287:A201S;ENSP00000358286:A201S	ENSP00000251864:A201S	A	+	1	0	TDRD1	115951230	0.896000	0.30565	0.610000	0.28997	0.907000	0.53573	1.397000	0.34543	0.892000	0.36259	0.655000	0.94253	GCA		PASS	0.428	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			12	116	12	116	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124396774	124396774	+	Silent	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:124396774G>C	ENST00000338354.3	+	51	6607	c.6501G>C	c.(6499-6501)acG>acC	p.T2167T	DMBT1_ENST00000368909.3_Silent_p.T2167T|DMBT1_ENST00000344338.3_Silent_p.T2157T|DMBT1_ENST00000368956.2_Silent_p.T1539T|DMBT1_ENST00000368955.3_Silent_p.T2157T|DMBT1_ENST00000359586.6_Silent_p.T887T|DMBT1_ENST00000330163.4_Silent_p.T1539T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2167	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.T2167T(2)|p.T2296T(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCAGATAACGCCGAACCTGG	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(7)	7						c.(6499-6501)ACG>ACC		deleted in malignant brain tumors 1 isoform b							85.0	81.0	82.0					10																	124396774		1944	4131	6075	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124396774G>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6501G>C	10.37:g.124396774G>C						DMBT1_uc001lgl.1_Silent_p.T2157T|DMBT1_uc001lgm.1_Silent_p.T1539T|DMBT1_uc009xzz.1_Silent_p.T2166T|DMBT1_uc010qtx.1_Silent_p.T887T|DMBT1_uc009yab.1_Silent_p.T870T|DMBT1_uc009yac.1_Silent_p.T461T	p.T2167T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			51	6607	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2167			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6501G>C																																																																																					PASS	0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		8	47	8	47	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134910554	134910554	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:134910554T>A	ENST00000392607.3	+	3	516	c.80T>A	c.(79-81)gTc>gAc	p.V27D	GPR123_ENST00000607359.1_Missense_Mutation_p.V747D	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	27					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V747D(1)|p.V27D(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGCACGGCCGTCATGCTGCTC	0.622																																						uc001llx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(79-81)GTC>GAC		G protein-coupled receptor 123							158.0	120.0	133.0					10																	134910554		2203	4300	6503	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134910554T>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.80T>A	10.37:g.134910554T>A	ENSP00000376384:p.Val27Asp					GPR123_uc001llw.2_Missense_Mutation_p.V747D	p.V27D	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	3	516	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	27			Helical; Name=1; (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.80T>A	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.209341	0.79240	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.42900	0.96	3.85	3.85	0.44370	GPCR, family 2-like (1);	0.000000	0.48286	D	0.000198	T	0.65165	0.2665	M	0.85041	2.73	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	T	0.70676	-0.4806	10	0.87932	D	0	-46.8244	10.9105	0.47106	0.0:0.0:0.0:1.0	.	27;747	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	D	747;747;27	ENSP00000376384:V27D	ENSP00000357566:V747D	V	+	2	0	GPR123	134760544	1.000000	0.71417	0.982000	0.44146	0.847000	0.48162	7.226000	0.78060	1.542000	0.49330	0.358000	0.22013	GTC		PASS	0.622	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			8	56	8	56	---	---	---	---
ADAM8	101	broad.mit.edu	37	10	135086034	135086034	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr10:135086034C>G	ENST00000445355.3	-	9	811	c.761G>C	c.(760-762)aGt>aCt	p.S254T	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.S254T|ADAM8_ENST00000485491.2_Missense_Mutation_p.S215T	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	254	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)	p.S254T(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CCTGTCCTGACTATTCCAAAT	0.607																																						uc010qva.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(643-645)AGT>ACT		SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);							88.0	78.0	82.0					10																	135086034		2200	4300	6500	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135086034C>G	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.761G>C	10.37:g.135086034C>G	ENSP00000453302:p.Ser254Thr					ADAM8_uc010quz.1_Missense_Mutation_p.S254T|ADAM8_uc009ybi.2_Missense_Mutation_p.S254T|ADAM8_uc010qvb.1_Missense_Mutation_p.S229T|ADAM8_uc009ybj.1_RNA	p.S215T			P78325	ADAM8_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	8	695	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	215					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.644G>C	CCDS31319.2																																																																																				PASS	0.607	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		6	69	6	69	---	---	---	---
OSBPL5	114879	broad.mit.edu	37	11	3114761	3114761	+	Nonsense_Mutation	SNP	C	C	A	rs374824031		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:3114761C>A	ENST00000263650.7	-	17	2101	c.1942G>T	c.(1942-1944)Gag>Tag	p.E648*	OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.E580*|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.E580*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.E559*|OSBPL5_ENST00000542243.1_Nonsense_Mutation_p.E279*|OSBPL5_ENST00000478260.1_Nonsense_Mutation_p.E102*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	648					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.E648*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTCACCTCTCGGACTCCAGC	0.667																																						uc001lxk.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1942-1944)GAG>TAG		oxysterol-binding protein-like protein 5 isoform							67.0	63.0	64.0					11																	3114761		2202	4297	6499	SO:0001587	stop_gained	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3114761C>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1942G>T	11.37:g.3114761C>A	ENSP00000263650:p.Glu648*					OSBPL5_uc010qxq.1_Nonsense_Mutation_p.E559*|OSBPL5_uc009ydw.2_Nonsense_Mutation_p.E580*|OSBPL5_uc001lxl.2_Nonsense_Mutation_p.E580*|OSBPL5_uc009ydx.2_Nonsense_Mutation_p.E672*|OSBPL5_uc001lxj.2_Nonsense_Mutation_p.E102*	p.E648*	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	17	2100	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	648					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Nonsense_Mutation	SNP	ENST00000263650.7	37	c.1942G>T	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	39	7.846699	0.98522	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	.	.	.	3.93	3.93	0.45458	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.1238	0.81380	0.0:1.0:0.0:0.0	.	.	.	.	X	102;648;580;201;559;279;580;267	.	ENSP00000263650:E648X	E	-	1	0	OSBPL5	3071337	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	6.746000	0.74866	2.023000	0.59567	0.491000	0.48974	GAG		PASS	0.667	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			15	93	15	93	---	---	---	---
OR51F1	256892	broad.mit.edu	37	11	4790235	4790235	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:4790235T>C	ENST00000380383.1	-	1	933	c.934A>G	c.(934-936)Atg>Gtg	p.M312V	OR51F1_ENST00000343430.3_Missense_Mutation_p.M305V|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M305V(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGACTGAGCATAGCCTTGCGG	0.418																																						uc010qyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(913-915)ATG>GTG		olfactory receptor, family 51, subfamily F,							98.0	94.0	96.0					11																	4790235		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790235T>C	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.934A>G	11.37:g.4790235T>C	ENSP00000369744:p.Met312Val						p.M305V	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	913	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	305						Missense_Mutation	SNP	ENST00000380383.1	37	c.913A>G		.	.	.	.	.	.	.	.	.	.	T	0.006	-2.065117	0.00382	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.34275	1.37;1.37	5.43	-4.0	0.04057	.	0.870607	0.10067	N	0.720121	T	0.15262	0.0368	N	0.11023	0.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36065	-0.9763	10	0.11182	T	0.66	.	9.1449	0.36925	0.0:0.3991:0.1021:0.4988	.	312	A6NGY5	O51F1_HUMAN	V	305;312	ENSP00000345163:M305V;ENSP00000369744:M312V	ENSP00000345163:M305V	M	-	1	0	OR51F1	4746811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.710000	0.00818	-0.992000	0.03472	-1.139000	0.01908	ATG		PASS	0.418	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		10	66	10	66	---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903293	4903293	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:4903293G>A	ENST00000322049.1	+	1	164	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	OR51T1_ENST00000380378.1_Missense_Mutation_p.R82Q|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R55Q(1)|p.R82Q(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTACTAAGCGGAGACTCCAC	0.473																																						uc010qyp.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(244-246)CGG>CAG		olfactory receptor, family 51, subfamily T,							198.0	176.0	183.0					11																	4903293		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903293G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.164G>A	11.37:g.4903293G>A	ENSP00000322679:p.Arg55Gln						p.R82Q	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	245	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	55			Cytoplasmic (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.245G>A		.	.	.	.	.	.	.	.	.	.	G	0.072	-1.199593	0.01581	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.02974	4.09;4.09	4.55	-3.12	0.05282	GPCR, rhodopsin-like superfamily (1);	0.504809	0.14428	N	0.320198	T	0.01387	0.0045	N	0.11756	0.17	0.09310	N	1	B	0.29115	0.233	B	0.20384	0.029	T	0.48990	-0.8985	10	0.21014	T	0.42	.	7.1801	0.25768	0.5499:0.1229:0.3272:0.0	.	55	Q8NGJ9	O51T1_HUMAN	Q	82;55	ENSP00000369738:R82Q;ENSP00000322679:R55Q	ENSP00000322679:R55Q	R	+	2	0	OR51T1	4859869	0.000000	0.05858	0.001000	0.08648	0.225000	0.24961	-2.937000	0.00685	-0.360000	0.08138	0.484000	0.47621	CGG		PASS	0.473	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		11	136	11	136	---	---	---	---
OR52E2	119678	broad.mit.edu	37	11	5080470	5080470	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:5080470T>C	ENST00000321522.2	-	1	387	c.388A>G	c.(388-390)Aat>Gat	p.N130D		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, 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.N130D(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGAGTGGATTGCAGATGGCC	0.453																																						uc010qyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(388-390)AAT>GAT		olfactory receptor, family 52, subfamily E,							87.0	80.0	82.0					11																	5080470		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080470T>C	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.388A>G	11.37:g.5080470T>C	ENSP00000322088:p.Asn130Asp						p.N130D	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	388	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	130			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.388A>G	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	T	8.078	0.771818	0.16051	.	.	ENSG00000176787	ENST00000321522	T	0.00606	6.26	3.77	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.353602	0.23854	N	0.043914	T	0.00637	0.0021	L	0.55481	1.735	0.22639	N	0.998907	B	0.14805	0.011	B	0.13407	0.009	T	0.45991	-0.9223	10	0.27785	T	0.31	.	5.2506	0.15519	0.1709:0.0:0.3531:0.476	.	130	Q8NGJ4	O52E2_HUMAN	D	130	ENSP00000322088:N130D	ENSP00000322088:N130D	N	-	1	0	OR52E2	5037046	0.000000	0.05858	0.999000	0.59377	0.645000	0.38454	-0.442000	0.06871	0.804000	0.34136	0.529000	0.55759	AAT		PASS	0.453	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		5	38	5	38	---	---	---	---
NUCB2	4925	broad.mit.edu	37	11	17332477	17332477	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:17332477G>A	ENST00000529010.1	+	7	808	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	NUCB2_ENST00000323688.6_Missense_Mutation_p.E197K|NUCB2_ENST00000458064.2_Missense_Mutation_p.E197K	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	197						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.E197K(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AACATTGAATGAAGAAAAGAG	0.303																																						uc001mmw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)GAA>AAA		nucleobindin 2 precursor							71.0	73.0	72.0					11																	17332477		1790	4033	5823	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17332477G>A	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.589G>A	11.37:g.17332477G>A	ENSP00000436455:p.Glu197Lys					NUCB2_uc001mms.1_Missense_Mutation_p.E198K|NUCB2_uc001mmt.1_Missense_Mutation_p.E197K|NUCB2_uc001mmv.1_Missense_Mutation_p.E197K|NUCB2_uc009ygz.2_Missense_Mutation_p.E197K	p.E197K	NM_005013	NP_005004	P80303	NUCB2_HUMAN			7	834	+			197			By similarity.		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.589G>A	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796495	0.90453	.	.	ENSG00000070081	ENST00000530527;ENST00000323688;ENST00000529010;ENST00000458064	T;T;T	0.22134	1.97;1.97;1.99	5.93	5.02	0.67125	.	0.182769	0.64402	D	0.000019	T	0.43322	0.1242	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.79108	0.992;0.974;0.974	T	0.37526	-0.9702	10	0.66056	D	0.02	-23.9201	15.3086	0.74014	0.0671:0.0:0.9329:0.0	.	197;197;197	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	K	197	ENSP00000320168:E197K;ENSP00000436455:E197K;ENSP00000408702:E197K	ENSP00000320168:E197K	E	+	1	0	NUCB2	17289053	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	7.907000	0.87430	1.503000	0.48686	0.655000	0.94253	GAA		PASS	0.303	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		18	139	18	139	---	---	---	---
UEVLD	55293	broad.mit.edu	37	11	18566213	18566213	+	Silent	SNP	T	T	A	rs566228415		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:18566213T>A	ENST00000541984.1	-	6	608	c.546A>T	c.(544-546)tcA>tcT	p.S182S	UEVLD_ENST00000396197.3_Silent_p.S339S|UEVLD_ENST00000379387.4_Silent_p.S317S|UEVLD_ENST00000320750.6_Silent_p.S317S|UEVLD_ENST00000543987.1_Silent_p.S339S|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Silent_p.S301S	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains									p.S339S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTTCTTTGCCTGAAGTCTGTG	0.408																																						uc001mot.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1015-1017)TCA>TCT		ubiquitin-conjugating enzyme E2-like isoform a							207.0	195.0	199.0					11																	18566213		2199	4293	6492	SO:0001819	synonymous_variant	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18566213T>A	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.546A>T	11.37:g.18566213T>A						UEVLD_uc001mou.2_Silent_p.S339S|UEVLD_uc010rde.1_Silent_p.S209S|UEVLD_uc010rdf.1_Silent_p.S317S|UEVLD_uc010rdg.1_Silent_p.S209S|UEVLD_uc001mov.2_Silent_p.S317S	p.S339S	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN			9	1097	-			339						Silent	SNP	ENST00000541984.1	37	c.1017A>T	CCDS58125.1																																																																																				PASS	0.408	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314		16	132	16	132	---	---	---	---
WT1	7490	broad.mit.edu	37	11	32439176	32439176	+	Silent	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:32439176G>T	ENST00000379079.2	-	4	534	c.261C>A	c.(259-261)tcC>tcA	p.S87S	WT1_ENST00000530998.1_Silent_p.S87S|WT1_ENST00000448076.3_Silent_p.S299S|WT1_ENST00000332351.3_Silent_p.S299S	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	231					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S87S(1)|p.S231S(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ATTCAAGCTGGGATGTCATTT	0.373			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	2	Substitution - coding silent(2)	p.D299Y(1)|p.D299fs*20(1)	lung(2)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(895-897)TCC>TCA		Wilms tumor 1 isoform D							123.0	114.0	117.0					11																	32439176		2202	4299	6501	SO:0001819	synonymous_variant	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32439176G>T		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.261C>A	11.37:g.32439176G>T						WT1_uc001mtl.1_Silent_p.S87S|WT1_uc001mtm.1_Silent_p.S87S|WT1_uc001mto.1_Silent_p.S299S|WT1_uc001mtp.1_Silent_p.S299S|WT1_uc001mtq.1_Silent_p.S299S|WT1_uc009yjs.1_RNA	p.S299S	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		4	1093	-	Breast(20;0.247)		231					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	c.897C>A	CCDS55751.1																																																																																				PASS	0.373	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		10	56	10	56	---	---	---	---
OR5M11	219487	broad.mit.edu	37	11	56310501	56310501	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:56310501G>T	ENST00000528616.2	-	1	256	c.233C>A	c.(232-234)aCc>aAc	p.T78N		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T78N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CATCTGCGGGGTTGCATTTGA	0.423																																						uc010rjl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)ACC>AAC		olfactory receptor, family 5, subfamily M,							125.0	124.0	124.0					11																	56310501		2157	4272	6429	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310501G>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.233C>A	11.37:g.56310501G>T	ENSP00000432417:p.Thr78Asn						p.T78N	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	233	-			78			Extracellular (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.233C>A	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127733	0.56721	.	.	ENSG00000255223	ENST00000528616	T	0.02552	4.25	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09379	0.0231	M	0.86028	2.79	0.24994	N	0.991515	P	0.49358	0.923	P	0.49597	0.616	T	0.25328	-1.0135	9	0.87932	D	0	.	6.6591	0.23004	0.088:0.0:0.7334:0.1786	.	78	Q96RB7	OR5MB_HUMAN	N	78	ENSP00000432417:T78N	ENSP00000432417:T78N	T	-	2	0	OR5M11	56067077	0.000000	0.05858	0.990000	0.47175	0.879000	0.50718	0.784000	0.26816	2.688000	0.91661	0.632000	0.83419	ACC		PASS	0.423	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		17	112	17	112	---	---	---	---
FTH1	2495	broad.mit.edu	37	11	61732988	61732988	+	Splice_Site	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:61732988C>G	ENST00000273550.7	-	2	349		c.e2-1		FTH1_ENST00000532601.1_Splice_Site|FTH1_ENST00000529631.1_Intron|AP003733.1_ENST00000601917.1_5'Flank|FTH1_ENST00000526640.1_Splice_Site|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1						cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)	p.?(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AGTAGTAAGACTGAAAGGGGA	0.473																																						uc001nsu.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-1		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						68.0	67.0	67.0					11																	61732988		1991	4171	6162	SO:0001630	splice_region_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732988C>G		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.115-1G>C	11.37:g.61732988C>G							p.S39_splice	NM_002032	NP_002023	P02794	FRIH_HUMAN			2	350	-								B3KNR5|Q3KRA8|Q3SWW1	Splice_Site	SNP	ENST00000273550.7	37	c.115_splice	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651319	0.67472	.	.	ENSG00000167996	ENST00000530019;ENST00000273550;ENST00000406545;ENST00000526640	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.791	0.85589	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FTH1	61489564	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.709000	0.84645	2.107000	0.64212	0.462000	0.41574	.		PASS	0.473	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032	Intron	15	120	15	120	---	---	---	---
ATL3	25923	broad.mit.edu	37	11	63426637	63426637	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:63426637G>A	ENST00000398868.3	-	2	410	c.134C>T	c.(133-135)gCc>gTc	p.A45V	RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000535789.1_5'UTR|ATL3_ENST00000538786.1_Missense_Mutation_p.A27V|ATL3_ENST00000332645.4_Intron	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	45					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.A45V(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GCTGGCCAAGGCTTTCTCATC	0.498																																						uc001nxk.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(133-135)GCC>GTC		atlastin 3							100.0	99.0	99.0					11																	63426637		1981	4178	6159	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63426637G>A		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.134C>T	11.37:g.63426637G>A	ENSP00000381844:p.Ala45Val					ATL3_uc010rms.1_Missense_Mutation_p.A27V|ATL3_uc001nxl.1_Missense_Mutation_p.A97V	p.A45V	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN			2	410	-			45			Cytoplasmic.		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.134C>T	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264099	0.95399	.	.	ENSG00000184743	ENST00000398868;ENST00000538786;ENST00000540699	T;T;T	0.79352	-1.26;-1.26;-1.26	5.82	5.82	0.92795	Guanylate-binding protein, N-terminal (1);	.	.	.	.	D	0.87212	0.6121	M	0.72576	2.205	0.80722	D	1	D;P	0.71674	0.998;0.726	D;B	0.68483	0.958;0.224	D	0.87501	0.2433	9	0.62326	D	0.03	.	17.5818	0.87970	0.0:0.0:1.0:0.0	.	97;45	F5GWF8;Q6DD88	.;ATLA3_HUMAN	V	45;27;97	ENSP00000381844:A45V;ENSP00000437593:A27V;ENSP00000441842:A97V	ENSP00000381844:A45V	A	-	2	0	ATL3	63183213	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.294000	0.72738	2.739000	0.93911	0.655000	0.94253	GCC		PASS	0.498	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		9	96	9	96	---	---	---	---
RCOR2	283248	broad.mit.edu	37	11	63681598	63681598	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:63681598T>C	ENST00000301459.4	-	8	1106	c.719A>G	c.(718-720)aAa>aGa	p.K240R	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	240					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K240R(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GACCTCCTTTTTCCCAGGGCC	0.637																																						uc001nyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(718-720)AAA>AGA		REST corepressor 2							90.0	81.0	84.0					11																	63681598		2201	4297	6498	SO:0001583	missense	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63681598T>C	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.719A>G	11.37:g.63681598T>C	ENSP00000301459:p.Lys240Arg						p.K240R	NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN			8	1107	-			240					Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.719A>G	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	T	6.109	0.388307	0.11581	.	.	ENSG00000167771	ENST00000301459	T	0.46451	0.87	4.3	4.3	0.51218	.	0.053759	0.64402	D	0.000001	T	0.13457	0.0326	N	0.01267	-0.92	0.37858	D	0.929624	B	0.17852	0.024	B	0.12837	0.008	T	0.16217	-1.0410	10	0.10111	T	0.7	.	7.7257	0.28759	0.0:0.0966:0.0:0.9034	.	240	Q8IZ40	RCOR2_HUMAN	R	240	ENSP00000301459:K240R	ENSP00000301459:K240R	K	-	2	0	RCOR2	63438174	0.938000	0.31826	0.998000	0.56505	0.538000	0.34931	0.981000	0.29526	1.937000	0.56155	0.459000	0.35465	AAA		PASS	0.637	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		20	99	20	99	---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89531714	89531715	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:89531714_89531715GG>TT	ENST00000329758.1	-	8	1270_1271	c.942_943CC>AA	c.(940-945)gaCCat>gaAAat	p.314_315DH>EN	TRIM49_ENST00000532501.2_Missense_Mutation_p.237_238DH>EN	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	314	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D314E(1)|p.H315N(1)|p.D314_H315>EN(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACATCTTGATGGTCACATCCAA	0.386																																						uc001pdb.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(943-945)CAT>AAT|c.(940-942)GAC>GAA		ring finger protein 18																																				SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89531714G>T|g.chr11:89531715G>T	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.942_943delinsTT	11.37:g.89531714_89531715delinsTT	ENSP00000327604:p.D314_H315delinsEN						p.H315N|p.D314E	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			8	1272|1271	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	315|314			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.943C>A|c.942C>A	CCDS8287.1																																																																																				PASS	0.386	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		5	37|36	5	36	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102667499	102667499	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:102667499A>G	ENST00000315274.6	-	4	588	c.521T>C	c.(520-522)tTt>tCt	p.F174S	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	174	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F174S(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	AGGTCCATCAAAAGGAGAGTT	0.423																																						uc001phi.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(520-522)TTT>TCT		matrix metalloproteinase 1 isoform 1							111.0	99.0	103.0					11																	102667499		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102667499A>G	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.521T>C	11.37:g.102667499A>G	ENSP00000322788:p.Phe174Ser					uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.F108S	p.F174S	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	4	664	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	174			Metalloprotease.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.521T>C	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	a	22.3	4.277774	0.80692	.	.	ENSG00000196611	ENST00000315274	T	0.38240	1.15	5.87	5.87	0.94306	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.71409	0.3336	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80289	-0.1445	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	174	P03956	MMP1_HUMAN	S	174	ENSP00000322788:F174S	ENSP00000322788:F174S	F	-	2	0	MMP1	102172709	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	8.842000	0.92136	2.371000	0.80710	0.533000	0.62120	TTT		PASS	0.423	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		6	57	6	57	---	---	---	---
OR6M1	390261	broad.mit.edu	37	11	123676137	123676137	+	Silent	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:123676137G>T	ENST00000309154.2	-	1	958	c.921C>A	c.(919-921)acC>acA	p.T307T		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T307T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TTTGTATCAAGGTCATGATTC	0.383																																						uc010rzz.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(919-921)ACC>ACA		olfactory receptor, family 6, subfamily M,							117.0	119.0	118.0					11																	123676137		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676137G>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.921C>A	11.37:g.123676137G>T							p.T307T	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	921	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	307			Cytoplasmic (Potential).		B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.921C>A	CCDS31696.1																																																																																				PASS	0.383	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		15	110	15	110	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900741	123900741	+	Missense_Mutation	SNP	C	C	T	rs149526223		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr11:123900741C>T	ENST00000431524.1	+	1	445	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R138C(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GATGACTGGGCGCTCGTGTAC	0.562																																						uc001pzp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(412-414)CGC>TGC		olfactory receptor, family 10, subfamily G,		C	CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	153.0	142.0	145.0		412	-1.1	0.0	11	dbSNP_134	145	0,8598		0,0,4299	yes	missense	OR10G8	NM_001004464.1	180	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	benign	138/312	123900741	2,12998	2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900741C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.412C>T	11.37:g.123900741C>T	ENSP00000389072:p.Arg138Cys						p.R138C	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	412	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	138			Cytoplasmic (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.412C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	0.942	-0.709251	0.03230	4.54E-4	0.0	ENSG00000234560	ENST00000431524	T	0.43294	0.95	3.04	-1.1	0.09872	GPCR, rhodopsin-like superfamily (1);	0.803834	0.10562	N	0.660164	T	0.39009	0.1062	M	0.76170	2.325	0.09310	N	1	B	0.16166	0.016	B	0.17979	0.02	T	0.43360	-0.9396	10	0.66056	D	0.02	.	5.0833	0.14668	0.5201:0.2426:0.0:0.2372	.	138	Q8NGN5	O10G8_HUMAN	C	138	ENSP00000389072:R138C	ENSP00000389072:R138C	R	+	1	0	OR10G8	123405951	0.000000	0.05858	0.008000	0.14137	0.000000	0.00434	-0.906000	0.04071	-0.344000	0.08338	-2.923000	0.00089	CGC		PASS	0.562	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		21	135	21	135	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	977837	977837	+	Intron	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:977837G>T	ENST00000315939.6	+	9	2782				WNK1_ENST00000574564.1_Missense_Mutation_p.G281V|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.G1067V|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.G982V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.G982V(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAGAAGGAGGTGGAATTTTA	0.448																																					Colon(19;451 567 6672 12618 28860)	uc001qiq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(841-843)GGT>GTT		hereditary sensory neuropathy, type II							46.0	46.0	46.0					12																	977837		1939	4132	6071	SO:0001627	intron_variant	378465							g.chr12:977837G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2594G>T	12.37:g.977837G>T						WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.G281V	NM_213655	NP_998820			OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178)		1	968	+	all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987)							A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.842G>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873721	0.33069	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.17528	2.27;2.27	5.13	4.23	0.50019	.	.	.	.	.	T	0.15435	0.0372	.	.	.	0.80722	D	1	P	0.35908	0.527	B	0.39904	0.313	T	0.05419	-1.0886	8	0.34782	T	0.22	.	7.9024	0.29742	0.0879:0.1607:0.7514:0.0	.	1067	F5H2M7	.	V	982;1067	ENSP00000444465:G982V;ENSP00000433548:G1067V	ENSP00000433548:G1067V	G	+	2	0	WNK1	848098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.166000	0.50785	1.283000	0.44513	0.557000	0.71058	GGT		PASS	0.448	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		5	50	5	50	---	---	---	---
LRTM2	654429	broad.mit.edu	37	12	1943683	1943683	+	Silent	SNP	C	C	T	rs371056648		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:1943683C>T	ENST00000543818.1	+	5	1751	c.909C>T	c.(907-909)agC>agT	p.S303S	LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000535041.1_Silent_p.S303S|LRTM2_ENST00000299194.1_Silent_p.S303S|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	303						integral component of membrane (GO:0016021)		p.S303S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGCCGGCGAGCGTGAGGCGAG	0.677																																						uc001qjt.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(907-909)AGC>AGT		leucine-rich repeats and transmembrane domains 2		C	,,,	0,4366		0,0,2183	37.0	36.0	36.0		909,909,909,	-7.4	0.1	12		36	1,8503		0,1,4251	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	CACNA2D4,LRTM2	NM_001039029.2,NM_001163925.1,NM_001163926.1,NM_172364.4	,,,	0,1,6434	TT,TC,CC		0.0118,0.0,0.0078	,,,	303/371,303/371,303/371,	1943683	1,12869	2183	4252	6435	SO:0001819	synonymous_variant	654429					integral to membrane		g.chr12:1943683C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.909C>T	12.37:g.1943683C>T						CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.S303S|LRTM2_uc010sdx.1_Silent_p.S303S|LRTM2_uc001qjv.2_Silent_p.S65S	p.S303S	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1715	+	Ovarian(42;0.107)		303			Extracellular (Potential).		A7E2U6	Silent	SNP	ENST00000543818.1	37	c.909C>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	C	0.160	-1.082285	0.01888	0.0	1.18E-4	ENSG00000166159	ENST00000424079	.	.	.	5.44	-7.43	0.01383	.	.	.	.	.	T	0.76133	0.3945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81499	-0.0905	5	0.72032	D	0.01	.	19.5961	0.95538	0.0:0.411:0.0:0.589	.	.	.	.	C	60	.	ENSP00000394967:R60C	R	+	1	0	LRTM2	1813944	0.001000	0.12720	0.077000	0.20336	0.032000	0.12392	-1.482000	0.02320	-2.080000	0.00870	-1.945000	0.00491	CGT		PASS	0.677	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			12	57	12	57	---	---	---	---
CLECL1	160365	broad.mit.edu	37	12	9885651	9885651	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:9885651G>A	ENST00000327839.3	-	1	244	c.210C>T	c.(208-210)gtC>gtT	p.V70V		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V70V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						AGAGAGAGAAGACCACAAATG	0.438																																						uc001qwj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(208-210)GTC>GTT		type II transmembrane protein DCAL1							90.0	89.0	89.0					12																	9885651		2203	4300	6503	SO:0001819	synonymous_variant	160365					integral to membrane|plasma membrane	sugar binding	g.chr12:9885651G>A	AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.210C>T	12.37:g.9885651G>A							p.V70V	NM_172004	NP_742001	Q8IZS7	CLCL1_HUMAN			1	210	-			70			Helical; Signal-anchor for type II membrane protein; (Potential).			Silent	SNP	ENST00000327839.3	37	c.210C>T	CCDS8603.1	.	.	.	.	.	.	.	.	.	.	G	1.556	-0.537975	0.04082	.	.	ENSG00000184293	ENST00000542530	.	.	.	1.6	0.673	0.17941	.	.	.	.	.	T	0.24851	0.0603	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	T	0.24835	-1.0149	4	.	.	.	.	5.1058	0.14783	0.0:0.0:0.6533:0.3467	.	.	.	.	F	22	.	.	S	-	2	0	CLECL1	9776918	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	-0.077000	0.11394	0.228000	0.21019	-0.165000	0.13383	TCT		PASS	0.438	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004		17	84	17	84	---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10780269	10780269	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:10780269G>C	ENST00000075503.3	-	7	1208	c.688C>G	c.(688-690)Cac>Gac	p.H230D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.H230D(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TTTCCGATGTGATATACTTGT	0.403										HNSCC(73;0.22)																												uc001qys.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(688-690)CAC>GAC		serine/threonine/tyrosine kinase 1							230.0	157.0	182.0					12																	10780269		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10780269G>C	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.688C>G	12.37:g.10780269G>C	ENSP00000075503:p.His230Asp	HNSCC(73;0.22)					p.H230D	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			7	1209	-			230			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.688C>G	CCDS8629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.27|12.27	1.888838|1.888838	0.33348|0.33348	.|.	.|.	ENSG00000060140|ENSG00000060140	ENST00000075503|ENST00000542924	D|.	0.81996|.	-1.56|.	5.11|5.11	4.23|4.23	0.50019|0.50019	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.405610|.	0.26058|.	N|.	0.026592|.	T|T	0.20251|0.20251	0.0487|0.0487	N|N	0.11927|0.11927	0.2|0.2	0.29496|0.29496	N|N	0.855267|0.855267	B|.	0.23806|.	0.091|.	B|.	0.31101|.	0.124|.	T|T	0.16041|0.16041	-1.0416|-1.0416	10|5	0.72032|.	D|.	0.01|.	-13.8238|-13.8238	6.477|6.477	0.22041|0.22041	0.0904:0.0:0.7307:0.1789|0.0904:0.0:0.7307:0.1789	.|.	230|.	Q6J9G0|.	STYK1_HUMAN|.	D|M	230|73	ENSP00000075503:H230D|.	ENSP00000075503:H230D|.	H|I	-|-	1|3	0|3	STYK1|STYK1	10671536|10671536	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.798000|1.798000	0.38814|0.38814	1.402000|1.402000	0.46780|0.46780	0.655000|0.655000	0.94253|0.94253	CAC|ATC		PASS	0.403	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		6	78	6	78	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20769197	20769197	+	Silent	SNP	A	A	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:20769197A>C	ENST00000359062.3	+	4	1343	c.1303A>C	c.(1303-1305)Aga>Cga	p.R435R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	435					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.R435R(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGGCTTGTTGAGACGAGTTTC	0.468																																						uc001reh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1303-1305)AGA>CGA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						116.0	110.0	112.0					12																	20769197		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769197A>C		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1303A>C	12.37:g.20769197A>C							p.R435R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			4	1325	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	435					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.1303A>C	CCDS31754.1																																																																																				PASS	0.468	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			5	132	5	132	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43925895	43925895	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:43925895T>C	ENST00000389420.3	-	3	556	c.557A>G	c.(556-558)tAc>tGc	p.Y186C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y186C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	186					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y186C(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCTTGTCTGTATATAAGATG	0.353																																						uc010skx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(556-558)TAC>TGC		a disintegrin-like and metalloprotease with							126.0	121.0	123.0					12																	43925895		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43925895T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.557A>G	12.37:g.43925895T>C	ENSP00000374071:p.Tyr186Cys						p.Y186C	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	3	557	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	186					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.557A>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384603	0.61845	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.11712	2.75;2.75	4.82	4.82	0.62117	Peptidase M12B, propeptide (1);	0.000000	0.40385	N	0.001109	T	0.35970	0.0950	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.27434	-1.0074	10	0.87932	D	0	.	14.0493	0.64725	0.0:0.0:0.0:1.0	.	186	P59510	ATS20_HUMAN	C	186	ENSP00000374071:Y186C;ENSP00000448341:Y186C	ENSP00000374068:Y186C	Y	-	2	0	ADAMTS20	42212162	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.601000	0.67606	2.100000	0.63781	0.519000	0.50382	TAC		PASS	0.353	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	67	6	67	---	---	---	---
PLEKHA8P1	51054	broad.mit.edu	37	12	45567091	45567091	+	RNA	SNP	G	G	A	rs180755151		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:45567091G>A	ENST00000256692.5	-	0	1594					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.A353V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TACGGTTAACGCGGCCACAAA	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13065	0.0		0.0	False		,,,				2504	0.0					uc001rom.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(1057-1059)GCG>GTG		pleckstrin homology domain containing, family A							103.0	97.0	99.0					12																	45567091		2203	4300	6503			51054							g.chr12:45567091G>A	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567091G>A						PLEKHA9_uc009zke.2_Missense_Mutation_p.A353V	p.A353V	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	1595	-	Lung SC(27;0.192)|Renal(347;0.236)								Missense_Mutation	SNP	ENST00000256692.5	37	c.1058C>T																																																																																					PASS	0.502	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		5	86	5	86	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62786902	62786902	+	Silent	SNP	A	A	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:62786902A>T	ENST00000280377.5	+	19	2548	c.2490A>T	c.(2488-2490)gtA>gtT	p.V830V	USP15_ENST00000353364.3_Silent_p.V801V|USP15_ENST00000393654.3_Silent_p.V805V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	830	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V801V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGCCTCCAGTACTTGTAGTAC	0.353																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(2488-2490)GTA>GTT		ubiquitin specific peptidase 15							154.0	146.0	149.0					12																	62786902		2203	4300	6503	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62786902A>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2490A>T	12.37:g.62786902A>T						USP15_uc001srb.1_Silent_p.V801V	p.V830V	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	19	2499	+			830					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.2490A>T	CCDS58251.1																																																																																				PASS	0.353	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		13	84	13	84	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400700	78400700	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:78400700C>T	ENST00000397909.2	+	8	1555	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	NAV3_ENST00000536525.2_Missense_Mutation_p.S461F|NAV3_ENST00000228327.6_Missense_Mutation_p.S461F|NAV3_ENST00000266692.7_Missense_Mutation_p.S461F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	461						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S461F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AATAAAAAGTCTTTGCTACAG	0.413										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1381-1383)TCT>TTT		neuron navigator 3							65.0	63.0	64.0					12																	78400700		1825	4075	5900	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400700C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1382C>T	12.37:g.78400700C>T	ENSP00000381007:p.Ser461Phe	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S461F	p.S461F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1555	+			461					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1382C>T		.	.	.	.	.	.	.	.	.	.	C	16.75	3.209645	0.58343	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.66638	-0.22;1.4;1.38;1.4;1.41	5.73	5.73	0.89815	.	0.000000	0.40064	U	0.001189	T	0.76521	0.3999	L	0.55481	1.735	0.80722	D	1	D;P	0.67145	0.996;0.834	P;B	0.61940	0.896;0.382	T	0.78145	-0.2318	10	0.87932	D	0	-11.5557	15.403	0.74855	0.0:0.8615:0.1385:0.0	.	461;461	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	F	461	ENSP00000446628:S461F;ENSP00000446132:S461F;ENSP00000381007:S461F;ENSP00000228327:S461F;ENSP00000266692:S461F	ENSP00000228327:S461F	S	+	2	0	NAV3	76924831	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.719000	0.61937	2.710000	0.92621	0.650000	0.86243	TCT		PASS	0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	87	7	87	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113706674	113706674	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:113706674G>A	ENST00000335509.6	+	6	970	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	TPCN1_ENST00000550785.1_Missense_Mutation_p.R291Q|TPCN1_ENST00000541517.1_Missense_Mutation_p.R291Q|TPCN1_ENST00000392569.4_Missense_Mutation_p.R151Q	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	219					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.R219Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGTGGCGTCCGGCGGTAAGGC	0.627																																						uc001tuw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(655-657)CGG>CAG		two pore segment channel 1 isoform 2							112.0	87.0	96.0					12																	113706674		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113706674G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.656G>A	12.37:g.113706674G>A	ENSP00000335300:p.Arg219Gln					TPCN1_uc001tux.2_Missense_Mutation_p.R291Q|TPCN1_uc010syt.1_Missense_Mutation_p.R151Q	p.R219Q	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			6	953	+			219			Helical; Name=S4 of repeat I; (Potential).		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.656G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	37	6.058864	0.97246	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.85859	2.78	0.58432	D	0.99999	D;D;D	0.76494	0.999;0.974;0.998	D;P;P	0.80764	0.994;0.543;0.799	D	0.99937	1.1369	10	0.19147	T	0.46	-28.9932	18.2536	0.90012	0.0:0.0:1.0:0.0	.	219;291;219	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	Q	219;291;291;151	ENSP00000335300:R219Q;ENSP00000448083:R291Q;ENSP00000438125:R291Q;ENSP00000376350:R151Q	ENSP00000335300:R219Q	R	+	2	0	TPCN1	112191057	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.179000	0.94861	2.533000	0.85409	0.655000	0.94253	CGG		PASS	0.627	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		9	59	9	59	---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130648774	130648774	+	Silent	SNP	G	G	A	rs565696929		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:130648774G>A	ENST00000229030.4	+	1	1771	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	FZD10_ENST00000539839.1_Missense_Mutation_p.G397R|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	429					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T429T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGATGAAGACGGGCGGCGAGA	0.612																																						uc001uii.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(1)|central_nervous_system(1)	5						c.(1285-1287)ACG>ACA		frizzled 10 precursor							153.0	146.0	149.0					12																	130648774		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648774G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1287G>A	12.37:g.130648774G>A						uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.T429T	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1743	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		429			Cytoplasmic (Potential).			Silent	SNP	ENST00000229030.4	37	c.1287G>A	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274252	0.23221	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	-2.23	0.06930	.	.	.	.	.	T	0.53658	0.1810	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57323	-0.7831	5	0.87932	D	0	.	2.0973	0.03671	0.3787:0.3363:0.1678:0.1171	.	.	.	.	R	397	.	ENSP00000438460:G397R	G	+	1	0	FZD10	129214727	0.000000	0.05858	0.997000	0.53966	0.967000	0.64934	-3.709000	0.00387	-0.075000	0.12798	0.561000	0.74099	GGG		PASS	0.612	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	61	6	61	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133201572	133201572	+	Silent	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr12:133201572C>G	ENST00000320574.5	-	48	6709	c.6666G>C	c.(6664-6666)ctG>ctC	p.L2222L	POLE_ENST00000535270.1_Silent_p.L2195L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2222					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.L2222L(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CGCGGCACTTCAGGCAGACCT	0.657								DNA polymerases (catalytic subunits)																														uc001uks.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(6664-6666)CTG>CTC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							49.0	50.0	50.0					12																	133201572		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133201572C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6666G>C	12.37:g.133201572C>G						POLE_uc001ukq.1_Silent_p.L432L|POLE_uc001ukr.1_Silent_p.L1026L|POLE_uc010tbq.1_RNA	p.L2222L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	48	6710	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2222			C4-type (Potential).		Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.6666G>C	CCDS9278.1																																																																																				PASS	0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		4	42	4	42	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25442751	25442751	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr13:25442751C>G	ENST00000255324.5	+	31	4227	c.4175C>G	c.(4174-4176)gCt>gGt	p.A1392G	RNF17_ENST00000339524.3_Missense_Mutation_p.A402G|RNF17_ENST00000381921.1_Missense_Mutation_p.A1350G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1392					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A1392G(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGCTTTCGGCTGAAACAGAC	0.363																																						uc001upr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4174-4176)GCT>GGT		ring finger protein 17							160.0	153.0	156.0					13																	25442751		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25442751C>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4175C>G	13.37:g.25442751C>G	ENSP00000255324:p.Ala1392Gly					RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.A1388G|RNF17_uc001ups.2_Missense_Mutation_p.A1331G|RNF17_uc010aac.2_Missense_Mutation_p.A584G|RNF17_uc010aad.2_Missense_Mutation_p.A402G	p.A1392G	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	31	4216	+		Lung SC(185;0.0225)|Breast(139;0.077)	1392					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4175C>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	2.330	-0.353629	0.05173	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.23147	3.48;3.51;2.71;1.92	5.93	4.18	0.49190	.	0.572149	0.17119	N	0.186304	T	0.13243	0.0321	N	0.08118	0	0.80722	D	1	B;B;B;B	0.12013	0.0;0.0;0.004;0.005	B;B;B;B	0.12837	0.0;0.0;0.008;0.006	T	0.09422	-1.0675	10	0.23302	T	0.38	-3.6493	11.3538	0.49605	0.0:0.8037:0.1261:0.0702	.	1388;402;1386;1392	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	G	1392;1350;716;402	ENSP00000255324:A1392G;ENSP00000371346:A1350G;ENSP00000388892:A716G;ENSP00000344776:A402G	ENSP00000255324:A1392G	A	+	2	0	RNF17	24340751	0.952000	0.32445	0.985000	0.45067	0.092000	0.18411	2.047000	0.41269	1.511000	0.48818	-0.175000	0.13238	GCT		PASS	0.363	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		13	104	13	104	---	---	---	---
AMER2	219287	broad.mit.edu	37	13	25745075	25745075	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr13:25745075C>A	ENST00000515384.1	-	1	1350	c.683G>T	c.(682-684)gGc>gTc	p.G228V	AMER2_ENST00000357816.2_Missense_Mutation_p.G228V|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.G228V			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	228					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G228V(2)									GGTGAGCGAGCCGGGTAGGAT	0.746																																						uc001uqb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|lung(1)	4						c.(682-684)GGC>GTC		hypothetical protein LOC219287 isoform 1							5.0	6.0	6.0					13																	25745075		1624	3486	5110	SO:0001583	missense	219287							g.chr13:25745075C>A	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.683G>T	13.37:g.25745075C>A	ENSP00000426528:p.Gly228Val					FAM123A_uc001uqa.2_Missense_Mutation_p.G228V|FAM123A_uc001uqc.2_Missense_Mutation_p.G228V	p.G228V	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	783	-		Lung SC(185;0.0225)|Breast(139;0.0602)	228					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.683G>T	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043409	0.55003	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.18338	2.22;2.22;2.22	3.5	3.5	0.40072	.	0.309163	0.30800	N	0.008856	T	0.24928	0.0605	L	0.44542	1.39	0.58432	D	0.999996	D;D	0.61697	0.984;0.99	P;P	0.55055	0.753;0.767	T	0.01786	-1.1274	10	0.31617	T	0.26	-9.346	13.7631	0.62979	0.0:1.0:0.0:0.0	.	228;228	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	V	228	ENSP00000350469:G228V;ENSP00000371277:G228V;ENSP00000426528:G228V	ENSP00000350469:G228V	G	-	2	0	FAM123A	24643075	0.289000	0.24334	0.962000	0.40283	0.908000	0.53690	2.696000	0.47052	1.812000	0.52913	0.305000	0.20034	GGC		PASS	0.746	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		3	8	3	8	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100617671	100617671	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr13:100617671T>C	ENST00000267294.4	-	2	2185	c.1952A>G	c.(1951-1953)gAa>gGa	p.E651G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	651					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E651G(1)		endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCCGTAAATTTCCTCATCTTC	0.468																																						uc001vom.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1951-1953)GAA>GGA		zinc finger protein of the cerebellum 5							88.0	87.0	88.0					13																	100617671		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617671T>C	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1952A>G	13.37:g.100617671T>C	ENSP00000267294:p.Glu651Gly						p.E651G	NM_033132	NP_149123	Q96T25	ZIC5_HUMAN			2	2201	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		651					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1952A>G	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559202	0.65538	.	.	ENSG00000139800	ENST00000267294	T	0.13420	2.59	6.06	6.06	0.98353	.	.	.	.	.	T	0.10594	0.0259	N	0.22421	0.69	0.52099	D	0.999948	P	0.42871	0.792	B	0.35182	0.197	T	0.05517	-1.0880	9	0.52906	T	0.07	.	16.2888	0.82737	0.0:0.0:0.0:1.0	.	651	Q96T25	ZIC5_HUMAN	G	651	ENSP00000267294:E651G	ENSP00000267294:E651G	E	-	2	0	ZIC5	99415672	1.000000	0.71417	0.989000	0.46669	0.873000	0.50193	7.217000	0.77982	2.315000	0.78130	0.533000	0.62120	GAA		PASS	0.468	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		18	119	18	119	---	---	---	---
OR4K2	390431	broad.mit.edu	37	14	20345270	20345270	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:20345270C>A	ENST00000298642.2	+	1	880	c.844C>A	c.(844-846)Ctg>Atg	p.L282M		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L282M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTCCCACTCTGAACCCAAT	0.373																																						uc001vwh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(844-846)CTG>ATG		olfactory receptor, family 4, subfamily K,							111.0	117.0	115.0					14																	20345270		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345270C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.844C>A	14.37:g.20345270C>A	ENSP00000298642:p.Leu282Met						p.L282M	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	844	+	all_cancers(95;0.00108)		282			Helical; Name=7; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.844C>A	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	6.437	0.448841	0.12223	.	.	ENSG00000165762	ENST00000298642	T	0.49432	0.78	5.16	-1.26	0.09376	GPCR, rhodopsin-like superfamily (1);	0.195771	0.25202	N	0.032363	T	0.44644	0.1303	L	0.49126	1.545	0.09310	N	0.999999	P	0.46220	0.874	P	0.51945	0.685	T	0.37865	-0.9687	10	0.59425	D	0.04	.	3.6482	0.08192	0.374:0.3239:0.0:0.3021	.	282	Q8NGD2	OR4K2_HUMAN	M	282	ENSP00000298642:L282M	ENSP00000298642:L282M	L	+	1	2	OR4K2	19415110	0.000000	0.05858	0.355000	0.25773	0.035000	0.12851	-2.271000	0.01166	-0.457000	0.07033	-0.948000	0.02665	CTG		PASS	0.373	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			5	166	5	166	---	---	---	---
RNASE11	122651	broad.mit.edu	37	14	21052471	21052471	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:21052471G>A	ENST00000610205.1	-	3	346	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	RNASE11_ENST00000432835.2_Missense_Mutation_p.P55S|RNASE11_ENST00000555841.1_Missense_Mutation_p.P55S|RNASE11_ENST00000398009.2_Missense_Mutation_p.P55S|RNASE11_ENST00000553849.1_Missense_Mutation_p.P55S|RNASE11_ENST00000398008.2_Missense_Mutation_p.P55S	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	55						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.P55S(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		AACAGGATCGGGTTCATTAAT	0.368																																						uc010ahv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(163-165)CCG>TCG		ribonuclease, RNase A family, 11 (non-active)							218.0	205.0	210.0					14																	21052471		2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052471G>A	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.163C>T	14.37:g.21052471G>A	ENSP00000476537:p.Pro55Ser					RNASE11_uc010ahx.2_Missense_Mutation_p.P55S|RNASE11_uc010ahw.2_Missense_Mutation_p.P55S|RNASE11_uc001vxs.2_Missense_Mutation_p.P55S	p.P55S	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	348	-	all_cancers(95;0.00238)	all_lung(585;0.235)	55						Missense_Mutation	SNP	ENST00000610205.1	37	c.163C>T	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.029567	0.00410	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.68;1.68;1.68;1.68;1.68	4.09	-1.73	0.08081	.	3.026730	0.01355	N	0.012052	T	0.10294	0.0252	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14035	-1.0487	10	0.09338	T	0.73	-23.5242	1.5615	0.02596	0.3784:0.3501:0.1017:0.1699	.	55	Q8TAA1	RNS11_HUMAN	S	55	ENSP00000338288:P55S;ENSP00000451318:P55S;ENSP00000451563:P55S;ENSP00000381093:P55S;ENSP00000381092:P55S;ENSP00000395210:P55S;ENSP00000401398:P55S;ENSP00000451839:P55S;ENSP00000452412:P55S;ENSP00000415954:P55S;ENSP00000451466:P55S	ENSP00000338288:P55S	P	-	1	0	RNASE11	20122311	0.001000	0.12720	0.000000	0.03702	0.044000	0.14063	0.042000	0.13949	-0.241000	0.09681	-0.416000	0.06073	CCG		PASS	0.368	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		27	243	27	243	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33291766	33291766	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:33291766T>C	ENST00000280979.4	+	13	4917	c.4747T>C	c.(4747-4749)Ttt>Ctt	p.F1583L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1583	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.F1583L(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATTGGGCATCTTTAAAAATGG	0.428																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4747-4749)TTT>CTT		A-kinase anchor protein 6							85.0	88.0	87.0					14																	33291766		2203	4299	6502	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291766T>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4747T>C	14.37:g.33291766T>C	ENSP00000280979:p.Phe1583Leu						p.F1583L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4917	+	Breast(36;0.0388)|Prostate(35;0.15)		1583			Ser-rich.		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4747T>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376638	0.24857	.	.	ENSG00000151320	ENST00000280979	T	0.06218	3.33	5.98	3.6	0.41247	.	0.317757	0.31963	N	0.006796	T	0.04724	0.0128	N	0.21583	0.68	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41698	-0.9494	10	0.38643	T	0.18	-6.5606	8.643	0.33989	0.0:0.1546:0.0:0.8454	.	1583	Q13023	AKAP6_HUMAN	L	1583	ENSP00000280979:F1583L	ENSP00000280979:F1583L	F	+	1	0	AKAP6	32361517	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.495000	0.35627	0.497000	0.27926	0.528000	0.53228	TTT		PASS	0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		21	127	21	127	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59113810	59113810	+	Silent	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:59113810C>G	ENST00000335867.4	+	4	2493	c.2469C>G	c.(2467-2469)ctC>ctG	p.L823L	DACT1_ENST00000395153.3_Silent_p.L786L|DACT1_ENST00000541264.2_Silent_p.L542L|DACT1_ENST00000556859.1_Silent_p.L542L			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	823					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.L823L(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGAAGATCCTCCGCTTTCGGT	0.453																																						uc001xdw.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(2467-2469)CTC>CTG		dapper 1 isoform 1							116.0	120.0	119.0					14																	59113810		2203	4300	6503	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113810C>G	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2469C>G	14.37:g.59113810C>G						DACT1_uc010trv.1_Silent_p.L542L|DACT1_uc001xdx.2_Silent_p.L786L|DACT1_uc010trw.1_Silent_p.L542L	p.L823L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	2633	+			823					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.2469C>G	CCDS9736.1																																																																																				PASS	0.453	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		28	175	28	175	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60212638	60212638	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:60212638G>A	ENST00000267484.5	-	2	1138	c.803C>T	c.(802-804)tCt>tTt	p.S268F		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	268					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.S268F(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGTTCTTCAGAGAGATCATC	0.473																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(802-804)TCT>TTT		reticulon 1 isoform A							151.0	146.0	148.0					14																	60212638		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212638G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.803C>T	14.37:g.60212638G>A	ENSP00000267484:p.Ser268Phe						p.S268F	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	1012	-			268					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.803C>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250071	0.22880	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.26810	1.71	5.53	4.63	0.57726	.	0.384000	0.27056	N	0.021151	T	0.26919	0.0659	M	0.71581	2.175	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.20405	-1.0276	10	0.44086	T	0.13	.	7.9947	0.30261	0.1228:0.1455:0.7318:0.0	.	268	Q16799	RTN1_HUMAN	F	268;194	ENSP00000267484:S268F	ENSP00000267484:S268F	S	-	2	0	RTN1	59282391	0.720000	0.27996	0.828000	0.32881	0.895000	0.52256	2.230000	0.42999	1.317000	0.45149	0.557000	0.71058	TCT		PASS	0.473	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			9	155	9	155	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71575553	71575553	+	Silent	SNP	A	A	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:71575553A>C	ENST00000304743.2	+	34	6980	c.6534A>C	c.(6532-6534)tcA>tcC	p.S2178S	PCNX_ENST00000238570.5_Silent_p.S2106S|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Silent_p.S2067S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2178	Ser-rich.					integral component of membrane (GO:0016021)		p.S2178S(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGGAACCCTCAGGTCAGAGCG	0.562																																						uc001xmo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(6532-6534)TCA>TCC		pecanex-like 1							74.0	69.0	71.0					14																	71575553		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71575553A>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6534A>C	14.37:g.71575553A>C						PCNX_uc010are.1_Silent_p.S2067S|PCNX_uc010arf.1_Silent_p.S966S|PCNX_uc001xmp.2_Silent_p.S262S	p.S2178S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	34	6980	+			2178			Ser-rich.		B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.6534A>C	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.384459	0.01194	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.34	0.0783	0.14411	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	.	3.1604	0.06518	0.3196:0.2678:0.0:0.4126	.	.	.	.	P	1165	.	.	Q	+	2	0	PCNX	70645306	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.090000	0.15025	0.117000	0.18138	-1.330000	0.01273	CAG		PASS	0.562	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	69	5	69	---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	73989131	73989131	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:73989131G>T	ENST00000553558.1	-	3	1047	c.726C>A	c.(724-726)gaC>gaA	p.D242E	RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.D195E|HEATR4_ENST00000334988.2_Missense_Mutation_p.D242E	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	242								p.D242E(1)|p.D195E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TGTGACTCCAGTCGTACTGCT	0.577																																						uc010tub.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(724-726)GAC>GAA		HEAT repeat containing 4							76.0	73.0	74.0					14																	73989131		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73989131G>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.726C>A	14.37:g.73989131G>T	ENSP00000450444:p.Asp242Glu					HEATR4_uc010tua.1_Missense_Mutation_p.D195E	p.D242E	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	3	1048	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.726C>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922114	0.73213	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.41400	1.0	5.93	5.03	0.67393	.	0.000000	0.64402	D	0.000002	T	0.52191	0.1719	L	0.36672	1.1	0.30413	N	0.778911	D	0.76494	0.999	D	0.85130	0.997	T	0.52223	-0.8604	10	0.59425	D	0.04	-22.6433	11.4085	0.49913	0.0847:0.0:0.9153:0.0	.	242	Q86WZ0	HEAT4_HUMAN	E	242;195	ENSP00000450444:D242E	ENSP00000335447:D195E	D	-	3	2	HEATR4	73058884	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	3.461000	0.53035	2.815000	0.96918	0.561000	0.74099	GAC		PASS	0.577	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		14	81	14	81	---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91252596	91252596	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:91252596G>A	ENST00000328459.6	-	2	319	c.198C>T	c.(196-198)gcC>gcT	p.A66A	TTC7B_ENST00000357056.2_Silent_p.A66A	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	66								p.A66A(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTCGGGGACTGGCCCCCTGCC	0.602																																						uc001xyp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(196-198)GCC>GCT		tetratricopeptide repeat domain 7B							42.0	47.0	45.0					14																	91252596		2203	4300	6503	SO:0001819	synonymous_variant	145567						binding	g.chr14:91252596G>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.198C>T	14.37:g.91252596G>A							p.A66A	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			2	320	-		Melanoma(154;0.222)	66					Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	c.198C>T	CCDS32140.1																																																																																				PASS	0.602	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			16	69	16	69	---	---	---	---
SERPINA6	866	broad.mit.edu	37	14	94780437	94780437	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:94780437G>A	ENST00000341584.3	-	2	695	c.549C>T	c.(547-549)gtC>gtT	p.V183V		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	183					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)	p.V183V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AAAACAAGTCGACAATTTTCC	0.488																																						uc001ycv.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(547-549)GTC>GTT		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						136.0	135.0	136.0					14																	94780437		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780437G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.549C>T	14.37:g.94780437G>A						SERPINA6_uc010auv.2_RNA	p.V183V	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	653	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	183					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.549C>T	CCDS9924.1																																																																																				PASS	0.488	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		4	114	4	114	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95669821	95669821	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:95669821G>A	ENST00000298912.4	-	9	1978	c.1865C>T	c.(1864-1866)cCt>cTt	p.P622L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	622					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.P622L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTTAACTTGAGGCTCTGGCGA	0.448																																						uc001yef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1864-1866)CCT>CTT		calmin							62.0	57.0	59.0					14																	95669821		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669821G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1865C>T	14.37:g.95669821G>A	ENSP00000298912:p.Pro622Leu						p.P622L	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1981	-			622					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1865C>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660973	0.29515	.	.	ENSG00000165959	ENST00000298912	D	0.92699	-3.09	4.84	1.88	0.25563	.	1.383750	0.05080	N	0.483310	D	0.83889	0.5352	L	0.29908	0.895	0.09310	N	1	P	0.38922	0.651	B	0.27887	0.084	T	0.74383	-0.3683	10	0.49607	T	0.09	.	4.0094	0.09616	0.0895:0.1761:0.578:0.1564	.	622	Q96JQ2	CLMN_HUMAN	L	622	ENSP00000298912:P622L	ENSP00000298912:P622L	P	-	2	0	CLMN	94739574	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.483000	0.22292	0.159000	0.19401	0.655000	0.94253	CCT		PASS	0.448	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			5	77	5	77	---	---	---	---
INF2	64423	broad.mit.edu	37	14	105175017	105175017	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:105175017C>A	ENST00000392634.4	+	10	2009	c.1897C>A	c.(1897-1899)Ctc>Atc	p.L633I	INF2_ENST00000330634.7_Missense_Mutation_p.L633I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	633	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.L633I(2)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GATCACTTTCCTCGATGCCAA	0.622											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ypb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1897-1899)CTC>ATC		inverted formin 2 isoform 1							102.0	113.0	110.0					14																	105175017		1969	4159	6128	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105175017C>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1897C>A	14.37:g.105175017C>A	ENSP00000376410:p.Leu633Ile		OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387	INF2_uc010tyi.1_Missense_Mutation_p.L633I|INF2_uc001ypc.2_Missense_Mutation_p.L633I|INF2_uc010awz.1_RNA	p.L633I	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	10	2040	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	633			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.1897C>A	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833581	0.32421	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.39787	1.06;1.06	4.37	3.48	0.39840	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.086077	0.49305	U	0.000154	T	0.41465	0.1160	L	0.52759	1.655	0.80722	D	1	P;P	0.48089	0.884;0.905	P;P	0.49752	0.487;0.621	T	0.20140	-1.0284	10	0.42905	T	0.14	.	5.9125	0.19037	0.0:0.6391:0.0:0.3609	.	633;633	Q27J81-2;Q27J81	.;INF2_HUMAN	I	633	ENSP00000376406:L633I;ENSP00000376410:L633I	ENSP00000252527:L101I	L	+	1	0	INF2	104246062	0.999000	0.42202	0.158000	0.22627	0.194000	0.23727	3.252000	0.51461	0.818000	0.34468	0.561000	0.74099	CTC		PASS	0.622	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		9	173	9	173	---	---	---	---
IGHV1-18	28468	broad.mit.edu	37	14	106641689	106641689	+	RNA	SNP	A	A	C	rs533608205	byFrequency	TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr14:106641689A>C	ENST00000390605.2	-	0	283									immunoglobulin heavy variable 1-18																		AGTTTGTGTTACCATTGTAAG	0.542																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							216.0	207.0	210.0					14																	106641689		2088	4221	6309			8755							g.chr14:106641689A>C	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641689A>C														1021		-									RNA	SNP	ENST00000390605.2	37	c.24312T>G																																																																																					PASS	0.542	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		7	231	7	231	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921331	24921331	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr15:24921331C>T	ENST00000329468.2	+	1	791	c.317C>T	c.(316-318)cCg>cTg	p.P106L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	106					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P106L(1)									CGGAACCCCCCGAGGTTTGGA	0.677																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(316-318)CCG>CTG		hypothetical protein LOC23742							42.0	34.0	37.0					15																	24921331		2197	4291	6488	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921331C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.317C>T	15.37:g.24921331C>T	ENSP00000333735:p.Pro106Leu						p.P106L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	791	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	106						Missense_Mutation	SNP	ENST00000329468.2	37	c.317C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.600922	0.00849	.	.	ENSG00000185823	ENST00000329468	T	0.05513	3.43	2.45	-4.91	0.03085	.	6.362350	0.00397	N	0.000054	T	0.02494	0.0076	N	0.11427	0.14	0.09310	N	1	P	0.34412	0.453	B	0.25884	0.064	T	0.29518	-1.0009	10	0.26408	T	0.33	.	0.4583	0.00512	0.4337:0.1461:0.1745:0.2457	.	106	Q9NZP6	CO002_HUMAN	L	106	ENSP00000333735:P106L	ENSP00000333735:P106L	P	+	2	0	C15orf2	22472424	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.454000	0.06770	-1.162000	0.02797	-0.350000	0.07774	CCG		PASS	0.677	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		3	60	3	60	---	---	---	---
C15orf41	84529	broad.mit.edu	37	15	36989572	36989572	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr15:36989572G>T	ENST00000566621.1	+	8	775	c.525G>T	c.(523-525)gaG>gaT	p.E175D	C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000569302.1_Missense_Mutation_p.E175D|C15orf41_ENST00000338183.4_Missense_Mutation_p.E77D|C15orf41_ENST00000437989.2_Missense_Mutation_p.E175D|C15orf41_ENST00000562877.1_Missense_Mutation_p.E77D|C15orf41_ENST00000567389.1_Missense_Mutation_p.E77D	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	175								p.E175D(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		TGCTTCTAGAGAAAAACCTGT	0.408																																						uc001zje.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(523-525)GAG>GAT		hypothetical protein LOC84529 isoform 1							186.0	186.0	186.0					15																	36989572		1908	4140	6048	SO:0001583	missense	84529						protein binding	g.chr15:36989572G>T	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.525G>T	15.37:g.36989572G>T	ENSP00000455397:p.Glu175Asp					C15orf41_uc001zjd.2_Missense_Mutation_p.E175D|C15orf41_uc010bbb.1_Missense_Mutation_p.E77D|C15orf41_uc001zjf.2_Missense_Mutation_p.E77D|C15orf41_uc010uci.1_Missense_Mutation_p.E77D	p.E175D	NM_001130010	NP_001123482	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	8	775	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	175					B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	c.525G>T	CCDS45215.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454248	0.43634	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.46451	0.87	5.6	5.6	0.85130	.	0.047081	0.85682	D	0.000000	T	0.36054	0.0953	L	0.37507	1.11	0.47476	D	0.999439	P	0.52316	0.952	B	0.43916	0.436	T	0.05435	-1.0885	10	0.30078	T	0.28	-8.8224	13.3275	0.60467	0.0816:0.0:0.9184:0.0	.	175	Q9Y2V0	CO041_HUMAN	D	175;77	ENSP00000401362:E175D	ENSP00000342433:E77D	E	+	3	2	C15orf41	34776864	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.172000	0.65003	2.646000	0.89796	0.650000	0.86243	GAG		PASS	0.408	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		10	162	10	162	---	---	---	---
TMOD3	29766	broad.mit.edu	37	15	52155121	52155121	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr15:52155121G>C	ENST00000308580.7	+	2	321	c.40G>C	c.(40-42)Gac>Cac	p.D14H	TMOD3_ENST00000544199.1_Missense_Mutation_p.D14H	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	14						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.D14H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAAGTACAAAGACCTTGATGA	0.443																																					Colon(122;1837 2251 18387 22826)	uc002abm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)GAC>CAC		tropomodulin 3 (ubiquitous)							119.0	106.0	111.0					15																	52155121		2195	4293	6488	SO:0001583	missense	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52155121G>C	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.40G>C	15.37:g.52155121G>C	ENSP00000308753:p.Asp14His						p.D14H	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	2	259	+			14					B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	c.40G>C	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146134	0.94603	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.40476	1.03;1.03	5.38	5.38	0.77491	.	0.051363	0.85682	D	0.000000	T	0.68081	0.2962	M	0.82132	2.575	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.71961	-0.4434	10	0.87932	D	0	-19.0697	19.5104	0.95139	0.0:0.0:1.0:0.0	.	14	Q9NYL9	TMOD3_HUMAN	H	14	ENSP00000308753:D14H;ENSP00000438909:D14H	ENSP00000308753:D14H	D	+	1	0	TMOD3	49942413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.727000	0.68523	2.690000	0.91761	0.655000	0.94253	GAC		PASS	0.443	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			6	76	6	76	---	---	---	---
CHRNA3	1136	broad.mit.edu	37	15	78894314	78894314	+	Missense_Mutation	SNP	A	A	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr15:78894314A>C	ENST00000326828.5	-	5	1054	c.670T>G	c.(670-672)Tgc>Ggc	p.C224G	CHRNA3_ENST00000348639.3_Missense_Mutation_p.C224G	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	224					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.C224G(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	ATCTCCTCGCAGCAGTTGTAC	0.547																																						uc002bec.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(670-672)TGC>GGC		cholinergic receptor, nicotinic, alpha 3							188.0	157.0	167.0					15																	78894314		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894314A>C		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.670T>G	15.37:g.78894314A>C	ENSP00000315602:p.Cys224Gly					CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.C224G	p.C224G	NM_000743	NP_000734	P32297	ACHA3_HUMAN			5	856	-			224			Extracellular (Potential).		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.670T>G	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448671	0.84101	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.79940	-1.32;-1.32	6.17	6.17	0.99709	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90837	0.7122	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91793	0.5445	10	0.66056	D	0.02	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	224;224	P32297;P32297-3	ACHA3_HUMAN;.	G	224;224;88	ENSP00000267951:C224G;ENSP00000315602:C224G	ENSP00000315602:C224G	C	-	1	0	CHRNA3	76681369	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.332000	0.96446	2.371000	0.80710	0.533000	0.62120	TGC		PASS	0.547	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			4	50	4	50	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	424040	424040	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr16:424040G>A	ENST00000431232.2	-	11	2027	c.1867C>T	c.(1867-1869)Ctg>Ttg	p.L623L	TMEM8A_ENST00000250930.3_Silent_p.L430L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	623					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)		p.L623L(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCCATGCACAGGATGGTGACC	0.662											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002cgu.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|pancreas(1)	3						c.(1867-1869)CTG>TTG		transmembrane protein 8 (five membrane-spanning							58.0	53.0	55.0					16																	424040		2197	4298	6495	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:424040G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1867C>T	16.37:g.424040G>A			OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	TMEM8A_uc002cgv.3_Silent_p.L430L	p.L623L	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN			11	1996	-			623			Helical; (Potential).		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.1867C>T	CCDS10407.1																																																																																				PASS	0.662	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		5	21	5	21	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2129610	2129610	+	Nonsense_Mutation	SNP	G	G	T	rs397515013		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr16:2129610G>T	ENST00000219476.3	+	29	3967	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*	TSC2_ENST00000401874.2_Nonsense_Mutation_p.E1069*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.E1113*|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Nonsense_Mutation_p.E1070*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.E1021*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.E1080*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.E1033*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1113					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.E1113*(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCCAAGCTGGAGTCCCAGGC	0.682			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(3337-3339)GAG>TAG		tuberous sclerosis 2 isoform 1							23.0	27.0	25.0					16																	2129610		2176	4293	6469	SO:0001587	stop_gained	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2129610G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3337G>T	16.37:g.2129610G>T	ENSP00000219476:p.Glu1113*					TSC2_uc010bsd.2_Nonsense_Mutation_p.E1113*|TSC2_uc002coo.2_Nonsense_Mutation_p.E1069*|TSC2_uc010uvv.1_Nonsense_Mutation_p.E1033*|TSC2_uc010uvw.1_Nonsense_Mutation_p.E1021*|TSC2_uc002cop.2_Nonsense_Mutation_p.E869*	p.E1113*	NM_000548	NP_000539	P49815	TSC2_HUMAN			29	3443	+		Hepatocellular(780;0.0202)	1113					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	ENST00000219476.3	37	c.3337G>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	40	8.167365	0.98686	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	4.71	4.71	0.59529	.	0.120669	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-34.2717	14.5261	0.67890	0.0:0.1472:0.8528:0.0	.	.	.	.	X	1113;1070;1070;1033;1021;1113	.	ENSP00000219476:E1113X	E	+	1	0	TSC2	2069611	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.121000	0.77160	2.339000	0.79563	0.561000	0.74099	GAG		PASS	0.682	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		4	16	4	16	---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4016686	4016686	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr16:4016686G>C	ENST00000294016.3	-	11	3690	c.3152C>G	c.(3151-3153)tCc>tGc	p.S1051C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1051					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 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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.S1051C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATGGTTCTTGGAGTAGGTCTG	0.592																																						uc002cvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3151-3153)TCC>TGC		adenylate cyclase 9							179.0	152.0	161.0					16																	4016686		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016686G>C	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3152C>G	16.37:g.4016686G>C	ENSP00000294016:p.Ser1051Cys						p.S1051C	NM_001116	NP_001107	O60503	ADCY9_HUMAN			11	3691	-			1051			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3152C>G	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168620	0.78339	.	.	ENSG00000162104	ENST00000294016	D	0.82255	-1.59	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91774	0.5430	10	0.72032	D	0.01	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	1051	O60503	ADCY9_HUMAN	C	1051	ENSP00000294016:S1051C	ENSP00000294016:S1051C	S	-	2	0	ADCY9	3956687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.808000	0.96608	0.655000	0.94253	TCC		PASS	0.592	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			38	171	38	171	---	---	---	---
ZP2	7783	broad.mit.edu	37	16	21211169	21211169	+	Silent	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr16:21211169G>C	ENST00000574002.1	-	16	2207	c.1725C>G	c.(1723-1725)acC>acG	p.T575T	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Silent_p.T566T|ZP2_ENST00000219593.4_Silent_p.T575T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	575	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.T575T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GATGGAAGGTGGTCTGGTAGT	0.498																																						uc002dii.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1723-1725)ACC>ACG		zona pellucida glycoprotein 2 preproprotein							129.0	125.0	126.0					16																	21211169		2200	4300	6500	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21211169G>C	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1725C>G	16.37:g.21211169G>C						ZP2_uc010bwn.1_Silent_p.T605T	p.T575T	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	15	1725	-			575			Extracellular (Potential).|ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.1725C>G	CCDS10596.1																																																																																				PASS	0.498	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			8	111	8	111	---	---	---	---
IL21R	50615	broad.mit.edu	37	16	27448887	27448887	+	Silent	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr16:27448887C>A	ENST00000337929.3	+	4	704	c.231C>A	c.(229-231)gcC>gcA	p.A77A	IL21R_ENST00000395754.4_Silent_p.A77A|IL21R_ENST00000564089.1_Silent_p.A77A|IL21R_ENST00000395755.1_Silent_p.A77A	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	77	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.A77A(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCACGCATGCCACCTACACCT	0.557			T	BCL6	NHL																																	uc002doq.1				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(229-231)GCC>GCA		interleukin 21 receptor precursor							140.0	105.0	117.0					16																	27448887		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27448887C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.231C>A	16.37:g.27448887C>A						IL21R_uc002dor.1_Silent_p.A77A|IL21R_uc002dos.1_Silent_p.A77A	p.A77A	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			4	464	+			77			Extracellular (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.231C>A	CCDS10630.1																																																																																				PASS	0.557	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		8	58	8	58	---	---	---	---
C16orf86	388284	broad.mit.edu	37	16	67702132	67702132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr16:67702132C>T	ENST00000403458.4	+	4	738	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	195								p.Q195*(2)		endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GCCGCTGTACCAGTACGTCAA	0.672											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ety.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(583-585)CAG>TAG		hypothetical protein LOC388284							14.0	16.0	15.0					16																	67702132		2192	4295	6487	SO:0001587	stop_gained	388284							g.chr16:67702132C>T		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.583C>T	16.37:g.67702132C>T	ENSP00000384117:p.Gln195*		OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1101	C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_3'UTR|C16orf86_uc002etz.2_RNA	p.Q195*	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	4	740	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	195					B5MCW6	Nonsense_Mutation	SNP	ENST00000403458.4	37	c.583C>T	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	C	36	5.747861	0.96882	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.5553	18.1519	0.89677	0.0:1.0:0.0:0.0	.	.	.	.	X	195	.	ENSP00000384117:Q195X	Q	+	1	0	C16orf86	66259633	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.520000	0.60524	2.826000	0.97356	0.563000	0.77884	CAG		PASS	0.672	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		3	19	3	19	---	---	---	---
HAS3	3038	broad.mit.edu	37	16	69143365	69143365	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr16:69143365G>T	ENST00000306560.1	+	2	223	c.67G>T	c.(67-69)Ggt>Tgt	p.G23C	HAS3_ENST00000569188.1_Missense_Mutation_p.G23C|HAS3_ENST00000219322.3_Missense_Mutation_p.G23C	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	23					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.G23C(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCAGTGCTGGGTGGCATCCT	0.632																																						uc010cfh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(67-69)GGT>TGT		hyaluronan synthase 3 isoform a							93.0	69.0	77.0					16																	69143365		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143365G>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.67G>T	16.37:g.69143365G>T	ENSP00000304440:p.Gly23Cys					HAS3_uc002ewk.2_Missense_Mutation_p.G23C|HAS3_uc010vlk.1_Missense_Mutation_p.G23C|HAS3_uc002ewl.2_Missense_Mutation_p.G23C	p.G23C	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	291	+		Ovarian(137;0.101)	23			Helical; Name=1; (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.67G>T	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517434	0.64634	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	T;T	0.51325	0.8;0.71	5.56	5.56	0.83823	.	0.154459	0.56097	D	0.000021	T	0.62950	0.2470	L	0.48642	1.525	0.46521	D	0.999084	D;D	0.89917	0.966;1.0	P;D	0.70016	0.706;0.967	T	0.57435	-0.7812	10	0.34782	T	0.22	3.0341	19.1778	0.93609	0.0:0.0:1.0:0.0	.	23;23	O00219;O00219-2	HAS3_HUMAN;.	C	23	ENSP00000219322:G23C;ENSP00000304440:G23C	ENSP00000219322:G23C	G	+	1	0	HAS3	67700866	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.049000	0.30392	2.649000	0.89929	0.556000	0.70494	GGT		PASS	0.632	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		4	47	4	47	---	---	---	---
CPNE7	27132	broad.mit.edu	37	16	89661838	89661838	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr16:89661838G>A	ENST00000268720.5	+	16	1721	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	CPNE7_ENST00000319518.8_Missense_Mutation_p.A456T|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	531	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.A531T(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CACACGGGAGGCCATTGTGCG	0.627																																						uc002fnp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1591-1593)GCC>ACC		copine 7 isoform b							76.0	52.0	60.0					16																	89661838		2197	4297	6494	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89661838G>A	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1591G>A	16.37:g.89661838G>A	ENSP00000268720:p.Ala531Thr					CPNE7_uc002fnq.2_Missense_Mutation_p.A456T	p.A531T	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	16	1721	+		all_hematologic(23;0.0748)	531			VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1591G>A	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866188	0.51588	.	.	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.27720	1.65;1.65	3.56	3.56	0.40772	von Willebrand factor, type A (2);Copine (1);	0.115000	0.64402	D	0.000017	T	0.65801	0.2726	H	0.94183	3.505	0.51482	D	0.999928	D;D	0.89917	0.999;1.0	D;D	0.83275	0.967;0.996	T	0.78550	-0.2161	10	0.87932	D	0	-0.2435	15.1827	0.72972	0.0:0.0:1.0:0.0	.	456;531	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	T	456;531	ENSP00000317374:A456T;ENSP00000268720:A531T	ENSP00000268720:A531T	A	+	1	0	CPNE7	88189339	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.206000	0.77891	1.716000	0.51395	0.555000	0.69702	GCC		PASS	0.627	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			4	42	4	42	---	---	---	---
POLR2A	5430	broad.mit.edu	37	17	7402446	7402446	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr17:7402446G>A	ENST00000322644.6	+	9	1823	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	POLR2A_ENST00000572844.1_Missense_Mutation_p.R475H	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	475					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.R475H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATCGGGTCCGCATTCTCCCA	0.562																																						uc002ghf.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1423-1425)CGC>CAC		DNA-directed RNA polymerase II A							152.0	134.0	140.0					17																	7402446		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7402446G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1424G>A	17.37:g.7402446G>A	ENSP00000314949:p.Arg475His					POLR2A_uc002ghe.2_Missense_Mutation_p.R475H	p.R475H	NM_000937	NP_000928	P24928	RPB1_HUMAN			9	1658	+		Prostate(122;0.173)	475					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.1424G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711976	0.96830	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.79033	-1.23	6.03	6.03	0.97812	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89371	0.6696	M	0.92459	3.31	0.80722	D	1	P;D	0.69078	0.897;0.997	P;P	0.55749	0.523;0.783	D	0.91206	0.4995	10	0.87932	D	0	-10.5522	19.3467	0.94365	0.0:0.0:1.0:0.0	.	475;475	P24928;Q6NX41	RPB1_HUMAN;.	H	431;475	ENSP00000314949:R475H	ENSP00000314949:R475H	R	+	2	0	SLC35G6	7343170	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.231000	0.72307	2.868000	0.98415	0.557000	0.71058	CGC		PASS	0.562	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		4	139	4	139	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8047094	8047094	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr17:8047094G>A	ENST00000317276.4	-	19	2799	c.2562C>T	c.(2560-2562)tgC>tgT	p.C854C	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Silent_p.C831C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	854	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.C854C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGAGACATAGCAGGGCGCTT	0.697			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(2560-2562)TGC>TGT	Other_conserved_DNA_damage_response_genes	period 1							34.0	38.0	37.0					17																	8047094		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8047094G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2562C>T	17.37:g.8047094G>A						PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_Intron	p.C854C	NM_002616	NP_002607	O15534	PER1_HUMAN			19	2800	-			854			Pro-rich.		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.2562C>T	CCDS11131.1																																																																																				PASS	0.697	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			6	38	6	38	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10351379	10351379	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr17:10351379G>A	ENST00000255381.2	-	34	4831	c.4721C>T	c.(4720-4722)tCt>tTt	p.S1574F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1574					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.S1574F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTCAATCTCAGATTTCACCTG	0.383																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4720-4722)TCT>TTT		myosin, heavy polypeptide 4, skeletal muscle							153.0	137.0	143.0					17																	10351379		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10351379G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4721C>T	17.37:g.10351379G>A	ENSP00000255381:p.Ser1574Phe					uc002gml.1_Intron	p.S1574F	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			34	4832	-			1574			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4721C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167154	0.57476	.	.	ENSG00000141048	ENST00000255381	T	0.79940	-1.32	5.52	5.52	0.82312	Myosin tail (1);	0.000000	0.37304	U	0.002145	D	0.85890	0.5802	M	0.76574	2.34	0.42985	D	0.994479	P	0.36144	0.539	P	0.47645	0.553	D	0.87015	0.2125	10	0.87932	D	0	.	15.3003	0.73945	0.0:0.1395:0.8605:0.0	.	1574	Q9Y623	MYH4_HUMAN	F	1574	ENSP00000255381:S1574F	ENSP00000255381:S1574F	S	-	2	0	MYH4	10292104	0.953000	0.32496	1.000000	0.80357	0.986000	0.74619	3.026000	0.49689	2.747000	0.94245	0.655000	0.94253	TCT		PASS	0.383	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		18	80	18	80	---	---	---	---
PIGL	9487	broad.mit.edu	37	17	16137283	16137283	+	Splice_Site	SNP	A	A	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr17:16137283A>T	ENST00000225609.5	+	2	252		c.e2-1		PIGL_ENST00000498772.2_Splice_Site|PIGL_ENST00000395844.4_Splice_Site|PIGL_ENST00000581006.1_Splice_Site	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TGTTACCCTCAGGAAATTACT	0.348																																						uc002gpv.2																			1	Unknown(1)		lung(1)		0						c.e2-2		phosphatidylinositol glycan anchor biosynthesis,							76.0	79.0	78.0					17																	16137283		2203	4300	6503	SO:0001630	splice_region_variant	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16137283A>T	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.236-1A>T	17.37:g.16137283A>T						PIGL_uc010vwd.1_Splice_Site_p.G79_splice	p.G79_splice	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	2	268	+								A8KA67|B4DYN4	Splice_Site	SNP	ENST00000225609.5	37	c.236_splice	CCDS11176.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038365	0.75617	.	.	ENSG00000108474	ENST00000225609;ENST00000395844	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.11	0.65115	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIGL	16078008	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.741000	0.74837	2.220000	0.72140	0.477000	0.44152	.		PASS	0.348	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1		Intron	5	46	5	46	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27805292	27805292	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr17:27805292G>A	ENST00000261716.3	+	6	895	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	TAOK1_ENST00000536202.1_Missense_Mutation_p.V126M	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	126	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.V126M(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ATTACAAGAAGTGGAAATAGC	0.289																																						uc002hdz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(376-378)GTG>ATG		TAO kinase 1							95.0	98.0	97.0					17																	27805292		2203	4291	6494	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27805292G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.376G>A	17.37:g.27805292G>A	ENSP00000261716:p.Val126Met					TAOK1_uc010wbe.1_Missense_Mutation_p.V126M|TAOK1_uc010wbf.1_Missense_Mutation_p.V126M|TAOK1_uc002heb.1_5'Flank	p.V126M	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		6	570	+			126			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.376G>A	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540925	0.45280	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.65364	-0.15;-0.15	5.72	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120261	0.56097	N	0.000026	T	0.46210	0.1381	N	0.16656	0.425	0.53005	D	0.999962	B;B	0.22276	0.067;0.009	B;B	0.28385	0.089;0.02	T	0.37865	-0.9687	10	0.33940	T	0.23	.	10.8127	0.46557	0.1443:0.0:0.8557:0.0	.	126;126	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	M	126	ENSP00000261716:V126M;ENSP00000438819:V126M	ENSP00000261716:V126M	V	+	1	0	TAOK1	24829418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.566000	0.53805	1.427000	0.47276	0.563000	0.77884	GTG		PASS	0.289	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		13	95	13	95	---	---	---	---
KRT35	3886	broad.mit.edu	37	17	39635146	39635146	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr17:39635146G>T	ENST00000393989.1	-	4	855	c.813C>A	c.(811-813)tgC>tgA	p.C271*	KRT35_ENST00000246639.2_Nonsense_Mutation_p.C241*	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	271	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.C271*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TTTCATACTGGCACCTCATCT	0.557																																						uc002hws.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(811-813)TGC>TGA		keratin 35							71.0	75.0	73.0					17																	39635146		2185	4289	6474	SO:0001587	stop_gained	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635146G>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.813C>A	17.37:g.39635146G>T	ENSP00000377558:p.Cys271*						p.C271*	NM_002280	NP_002271	Q92764	KRT35_HUMAN			4	856	-		Breast(137;0.000286)	271			Rod.|Coil 2.		O76012|Q92651	Nonsense_Mutation	SNP	ENST00000393989.1	37	c.813C>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049052	0.93740	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	.	.	.	4.4	2.39	0.29439	.	0.096943	0.46442	D	0.000285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6635	0.39969	0.2353:0.0:0.7647:0.0	.	.	.	.	X	241;271	.	ENSP00000246639:C241X	C	-	3	2	KRT35	36888672	0.000000	0.05858	1.000000	0.80357	0.923000	0.55619	-2.056000	0.01396	0.594000	0.29761	0.561000	0.74099	TGC		PASS	0.557	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		4	94	4	94	---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42800348	42800348	+	Missense_Mutation	SNP	G	G	T	rs200821996	byFrequency	TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr17:42800348G>T	ENST00000315005.3	+	3	321	c.183G>T	c.(181-183)aaG>aaT	p.K61N	DBF4B_ENST00000398338.3_Missense_Mutation_p.K61N|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.K61N	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	61	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.K61N(2)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTGCTGGCAAGAATCTCCAGT	0.527																																						uc002ihf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(181-183)AAG>AAT		DBF4 homolog B isoform 1							75.0	75.0	75.0					17																	42800348		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42800348G>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.183G>T	17.37:g.42800348G>T	ENSP00000323663:p.Lys61Asn					DBF4B_uc002ihd.1_Missense_Mutation_p.K61N|DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_5'UTR|DBF4B_uc010wjc.1_Missense_Mutation_p.K45N|DBF4B_uc002ihg.2_Missense_Mutation_p.K45N	p.K61N	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			3	396	+		Prostate(33;0.0322)	61			BRCT.		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.183G>T	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344200	0.41498	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005;ENST00000525011	T;T;T	0.79352	2.73;-1.26;2.73	3.94	-1.84	0.07809	.	0.249564	0.26143	U	0.026088	T	0.78368	0.4272	L	0.54323	1.7	0.21499	N	0.999664	D;D;D;D	0.64830	0.978;0.994;0.963;0.994	P;P;P;P	0.62649	0.796;0.905;0.543;0.905	T	0.69450	-0.5142	10	0.30854	T	0.27	-18.1365	7.6214	0.28187	0.5156:0.0:0.4844:0.0	.	61;45;61;61	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	N	61;61;61;61;45	ENSP00000377178:K61N;ENSP00000381381:K61N;ENSP00000323663:K61N	ENSP00000323663:K61N	K	+	3	2	DBF4B	40155874	0.754000	0.28360	0.384000	0.26145	0.983000	0.72400	0.194000	0.17135	-0.408000	0.07565	-0.266000	0.10368	AAG		PASS	0.527	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		15	82	15	82	---	---	---	---
MGAT5B	146664	broad.mit.edu	37	17	74934111	74934111	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr17:74934111G>C	ENST00000569840.2	+	13	2044	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	MGAT5B_ENST00000301618.4_Missense_Mutation_p.E488D|MGAT5B_ENST00000428789.2_Missense_Mutation_p.E499D	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	490					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.E488D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATACATGGAGATCCATGGCA	0.552																																						uc002jti.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1495-1497)GAG>GAC		N-acetylglucosaminyltranferase VB isoform 2							78.0	77.0	77.0					17																	74934111		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74934111G>C	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1470G>C	17.37:g.74934111G>C	ENSP00000456037:p.Glu490Asp					MGAT5B_uc002jth.2_Missense_Mutation_p.E488D	p.E499D	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			11	1600	+			490			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.1497G>C	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.898070	0.33535	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.54279	0.59;0.58	4.65	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	L	0.59436	1.845	0.46131	D	0.998883	B;D	0.61697	0.035;0.99	B;D	0.73380	0.086;0.98	T	0.63752	-0.6566	10	0.52906	T	0.07	-36.9685	11.3366	0.49507	0.1634:0.0:0.8366:0.0	.	499;488	Q3V5L5-2;Q3V5L5-5	.;.	D	488;499	ENSP00000301618:E488D;ENSP00000391227:E499D	ENSP00000301618:E488D	E	+	3	2	MGAT5B	72445706	1.000000	0.71417	0.998000	0.56505	0.210000	0.24377	3.266000	0.51569	0.391000	0.25143	-1.644000	0.00765	GAG		PASS	0.552	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		5	71	5	71	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48581307	48581307	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr18:48581307C>A	ENST00000342988.3	+	5	1149	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.S204Y|SMAD4_ENST00000398417.2_Missense_Mutation_p.S204Y|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	204					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)|p.S204Y(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTAGCCCCATCTGAGTCTAAT	0.468																																						uc010xdp.1																			40	Whole gene deletion(36)|Unknown(3)|Substitution - Missense(1)	p.0?(35)|p.?(3)	pancreas(26)|large_intestine(3)|stomach(3)|lung(3)|breast(3)|upper_aerodigestive_tract(1)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(610-612)TCT>TAT		mothers against decapentaplegic homolog 4							193.0	151.0	165.0					18																	48581307		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48581307C>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.611C>A	18.37:g.48581307C>A	ENSP00000341551:p.Ser204Tyr					SMAD4_uc010xdo.1_RNA|SMAD4_uc002lfb.3_Missense_Mutation_p.S49Y	p.S204Y	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	5	1149	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	204					A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.611C>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221724	0.58560	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	T;T	0.74421	-0.84;-0.84	5.86	5.86	0.93980	.	0.608012	0.18667	N	0.134566	T	0.62684	0.2448	N	0.24115	0.695	0.80722	D	1	B	0.29341	0.242	B	0.23419	0.046	T	0.62124	-0.6920	10	0.59425	D	0.04	.	14.8918	0.70614	0.0:0.8567:0.1433:0.0	.	204	Q13485	SMAD4_HUMAN	Y	204	ENSP00000341551:S204Y;ENSP00000381452:S204Y	ENSP00000341551:S204Y	S	+	2	0	SMAD4	46835305	0.951000	0.32395	0.994000	0.49952	0.986000	0.74619	5.480000	0.66820	2.937000	0.99478	0.650000	0.86243	TCT		PASS	0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		10	116	10	116	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1218443	1218443	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:1218443G>A	ENST00000326873.7	+	2	1491	c.318G>A	c.(316-318)cgG>cgA	p.R106R	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.R106R(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGTTACGGCACAAAAATG	0.552		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		25	Whole gene deletion(20)|Unknown(2)|Substitution - coding silent(2)|Deletion - Frameshift(1)	p.0?(19)|p.?(3)|p.E98_G155del(3)|p.R106R(1)|p.G52_P179del(1)	cervix(15)|lung(5)|stomach(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(316-318)CGG>CGA		serine/threonine protein kinase 11							170.0	176.0	174.0					19																	1218443		1994	4162	6156	SO:0001819	synonymous_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1218443G>A	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.318G>A	19.37:g.1218443G>A		TSP Lung(3;<1E-08)					p.R106R	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1433	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	106			Protein kinase.		B2RBX7|E7EW76	Silent	SNP	ENST00000326873.7	37	c.318G>A	CCDS45896.1																																																																																				PASS	0.552	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		4	189	4	189	---	---	---	---
ZNF77	58492	broad.mit.edu	37	19	2936662	2936662	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:2936662C>A	ENST00000314531.4	-	3	263	c.171G>T	c.(169-171)caG>caT	p.Q57H	ZNF77_ENST00000588050.1_5'Flank	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q57H(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACGTCCCTCTGAGAACTTG	0.348																																						uc002lws.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)CAG>CAT		zinc finger protein 77							78.0	77.0	77.0					19																	2936662		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2936662C>A	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.171G>T	19.37:g.2936662C>A	ENSP00000319053:p.Gln57His						p.Q57H	NM_021217	NP_067040	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	3	302	-			57			KRAB.		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.171G>T	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539380	0.27475	.	.	ENSG00000175691	ENST00000314531	T	0.48201	0.82	2.52	2.52	0.30459	Krueppel-associated box (3);	.	.	.	.	T	0.51346	0.1669	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.30650	-0.9971	9	0.62326	D	0.03	.	8.6659	0.34121	0.0:1.0:0.0:0.0	.	57	Q15935	ZNF77_HUMAN	H	57	ENSP00000319053:Q57H	ENSP00000319053:Q57H	Q	-	3	2	ZNF77	2887662	0.000000	0.05858	0.025000	0.17156	0.027000	0.11550	0.188000	0.17018	1.728000	0.51552	0.484000	0.47621	CAG		PASS	0.348	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		10	67	10	67	---	---	---	---
FUT3	2525	broad.mit.edu	37	19	5844073	5844073	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:5844073G>T	ENST00000303225.6	-	3	1412	c.778C>A	c.(778-780)Ctg>Atg	p.L260M	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.L260M|FUT3_ENST00000589918.1_Missense_Mutation_p.L260M|FUT3_ENST00000589620.1_Missense_Mutation_p.L260M	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	260					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.L260M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTCCTCCACAGCTTCTCGGTG	0.632																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)CTG>ATG		fucosyltransferase 3							58.0	60.0	59.0					19																	5844073		2201	4298	6499	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844073G>T		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.778C>A	19.37:g.5844073G>T	ENSP00000305603:p.Leu260Met					FUT3_uc002mdm.2_Missense_Mutation_p.L260M|FUT3_uc002mdj.2_Missense_Mutation_p.L260M|FUT3_uc002mdl.2_Missense_Mutation_p.L260M	p.L260M	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			2	875	-			260			Lumenal (Potential).		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.778C>A	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435813	0.25813	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.38240	1.15;1.15	2.29	1.19	0.21007	.	0.269461	0.25540	N	0.029967	T	0.60470	0.2271	M	0.92923	3.36	0.29605	N	0.847408	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.56486	-0.7971	10	0.72032	D	0.01	.	4.0935	0.09980	0.1537:0.2495:0.5968:0.0	.	260;260;260;260	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	M	260	ENSP00000305603:L260M;ENSP00000416443:L260M	ENSP00000305603:L260M	L	-	1	2	FUT3	5795073	1.000000	0.71417	0.721000	0.30653	0.235000	0.25334	2.406000	0.44557	0.258000	0.21686	-1.133000	0.01973	CTG		PASS	0.632	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		20	119	20	119	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8993440	8993440	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:8993440G>A	ENST00000397910.4	-	66	41852	c.41649C>T	c.(41647-41649)agC>agT	p.S13883S	MUC16_ENST00000380951.5_Silent_p.S524S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13886	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S13883S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCAGCTGGCTCAGCTCCA	0.592																																						uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41647-41649)AGC>AGT		mucin 16							131.0	123.0	125.0					19																	8993440		2030	4172	6202	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8993440G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41649C>T	19.37:g.8993440G>A						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.S700S|MUC16_uc010xki.1_RNA	p.S13883S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			66	41853	-			13886	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 12.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41649C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.996	0.754293	0.15778	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.61	0.1	0.14510	.	.	.	.	.	T	0.28599	0.0708	.	.	.	.	.	.	.	.	.	.	.	.	T	0.31833	-0.9929	3	.	.	.	.	3.1814	0.06586	0.2348:0.0:0.558:0.2072	.	.	.	.	V	723	.	.	A	-	2	0	MUC16	8854440	0.966000	0.33281	0.412000	0.26496	0.910000	0.53928	1.690000	0.37711	0.018000	0.15052	0.557000	0.71058	GCC		PASS	0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	146	8	146	---	---	---	---
ICAM5	7087	broad.mit.edu	37	19	10403724	10403724	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:10403724G>A	ENST00000221980.4	+	6	1330	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	423	Ig-like C2-type 5.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.E423K(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GACGTGGCCCGAGGGCCCAGA	0.692																																						uc002mnu.3																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1267-1269)GAG>AAG		intercellular adhesion molecule 5 precursor							30.0	35.0	33.0					19																	10403724		2199	4291	6490	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10403724G>A	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1267G>A	19.37:g.10403724G>A	ENSP00000221980:p.Glu423Lys					ICAM5_uc002mnv.3_Missense_Mutation_p.E298K	p.E423K	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		6	1332	+			423			Extracellular (Potential).|Ig-like C2-type 5.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1267G>A	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634273	0.96682	.	.	ENSG00000105376	ENST00000221980	T	0.03094	4.05	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177635	0.39544	N	0.001329	T	0.14485	0.0350	L	0.58583	1.82	0.39348	D	0.965704	D	0.89917	1.0	D	0.91635	0.999	T	0.00677	-1.1614	10	0.44086	T	0.13	-30.2609	14.4033	0.67065	0.0:0.0:1.0:0.0	.	423	Q9UMF0	ICAM5_HUMAN	K	423	ENSP00000221980:E423K	ENSP00000221980:E423K	E	+	1	0	ICAM5	10264724	0.999000	0.42202	0.946000	0.38457	0.998000	0.95712	3.654000	0.54453	2.463000	0.83235	0.561000	0.74099	GAG		PASS	0.692	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		9	67	9	67	---	---	---	---
TMEM205	374882	broad.mit.edu	37	19	11453492	11453492	+	Nonstop_Mutation	SNP	T	T	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:11453492T>A	ENST00000354882.5	-	3	995	c.569A>T	c.(568-570)tAg>tTg	p.*190L	TMEM205_ENST00000586218.1_Nonstop_Mutation_p.*129L|TMEM205_ENST00000589555.1_Nonstop_Mutation_p.*190L|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000447337.1_Nonstop_Mutation_p.*190L|TMEM205_ENST00000593256.2_Nonstop_Mutation_p.*190L|TMEM205_ENST00000587948.1_Nonstop_Mutation_p.*190L|TMEM205_ENST00000586590.1_Nonstop_Mutation_p.*190L|TMEM205_ENST00000588560.1_Nonstop_Mutation_p.*190L|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000586956.1_Nonstop_Mutation_p.*190L			Q6UW68	TM205_HUMAN	transmembrane protein 205	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.*190L(1)		endometrium(1)|lung(1)	2						GGGCCCATGCTAGAGGCTCCT	0.542																																						uc002mrb.2																			1	Nonstop extension(1)		lung(1)		0						c.(568-570)TAG>TTG		transmembrane protein 205							103.0	112.0	109.0					19																	11453492		2203	4300	6503	SO:0001578	stop_lost	374882					integral to membrane		g.chr19:11453492T>A	AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.569A>T	19.37:g.11453492T>A						TMEM205_uc002mra.2_Nonstop_Mutation_p.*190L|TMEM205_uc002mqz.2_Nonstop_Mutation_p.*190L|TMEM205_uc002mrc.2_Nonstop_Mutation_p.*190L	p.*190L	NM_001145416	NP_001138888	Q6UW68	TM205_HUMAN			4	757	-			190						Nonstop_Mutation	SNP	ENST00000354882.5	37	c.569A>T	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752808	0.49362	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.933	0.64007	0.0:0.0:0.0:1.0	.	.	.	.	L	190	.	.	X	-	2	0	TMEM205	11314492	0.972000	0.33761	0.517000	0.27799	0.034000	0.12701	2.059000	0.41384	1.996000	0.58369	0.533000	0.62120	TAG		PASS	0.542	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		23	157	23	157	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039443	31039443	+	Missense_Mutation	SNP	T	T	A	rs372644003		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:31039443T>A	ENST00000355537.3	+	4	3064	c.2917T>A	c.(2917-2919)Tat>Aat	p.Y973N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	973					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.Y973N(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAATCTCAGTATGAACCCCT	0.592																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2917-2919)TAT>AAT		zinc finger protein 536							90.0	97.0	95.0					19																	31039443		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039443T>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2917T>A	19.37:g.31039443T>A	ENSP00000347730:p.Tyr973Asn					ZNF536_uc010edd.1_Missense_Mutation_p.Y973N	p.Y973N	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3055	+	Esophageal squamous(110;0.0834)		973					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2917T>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322949	0.23994	.	.	ENSG00000198597	ENST00000355537	T	0.09445	2.98	5.78	3.71	0.42584	.	0.058113	0.64402	D	0.000001	T	0.11879	0.0289	L	0.34521	1.04	0.49915	D	0.999831	D;D	0.53619	0.961;0.961	P;P	0.47744	0.556;0.556	T	0.02339	-1.1174	10	0.56958	D	0.05	-22.8807	10.1213	0.42623	0.0:0.1353:0.0:0.8647	.	973;973	A7E228;O15090	.;ZN536_HUMAN	N	973	ENSP00000347730:Y973N	ENSP00000347730:Y973N	Y	+	1	0	ZNF536	35731283	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	4.822000	0.62686	0.465000	0.27167	0.459000	0.35465	TAT		PASS	0.592	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		21	121	21	121	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039656	31039656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:31039656C>T	ENST00000355537.3	+	4	3277	c.3130C>T	c.(3130-3132)Caa>Taa	p.Q1044*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1044					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.Q1044*(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGCAAAGACCAAGCCCGGGA	0.542																																						uc002nsu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3130-3132)CAA>TAA		zinc finger protein 536							84.0	76.0	79.0					19																	31039656		2203	4300	6503	SO:0001587	stop_gained	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039656C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3130C>T	19.37:g.31039656C>T	ENSP00000347730:p.Gln1044*					ZNF536_uc010edd.1_Nonsense_Mutation_p.Q1044*	p.Q1044*	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3268	+	Esophageal squamous(110;0.0834)		1044					A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	37	c.3130C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335067	0.95758	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.74	5.74	0.90152	.	0.440503	0.21920	N	0.067164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-4.5947	19.9212	0.97085	0.0:1.0:0.0:0.0	.	.	.	.	X	1044	.	ENSP00000347730:Q1044X	Q	+	1	0	ZNF536	35731496	0.999000	0.42202	0.330000	0.25442	0.413000	0.31143	4.153000	0.58118	2.697000	0.92050	0.655000	0.94253	CAA		PASS	0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	66	5	66	---	---	---	---
HSPB6	126393	broad.mit.edu	37	19	36245292	36245292	+	IGR	SNP	A	A	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:36245292A>T	ENST00000592984.1	-	0	1634				AC002398.9_ENST00000591613.2_Splice_Site|AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Splice_Site			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.?(1)		lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCTCCCCAGGTGGAAGGA	0.597																																						uc002obm.2																			1	Unknown(1)		lung(1)		0						c.e10-2		lin-37 homolog							55.0	57.0	57.0					19																	36245292		2016	4175	6191	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245292A>T	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245292A>T						uc002obl.2_5'Flank	p.R220_splice	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	774	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)							O14551|Q6NVI3|Q96MG9	Splice_Site	SNP	ENST00000592984.1	37	c.660_splice	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566608	0.86439	.	.	ENSG00000188223	ENST00000301159	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4853	0.61361	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIN37	40937132	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	8.226000	0.89785	2.176000	0.68965	0.533000	0.62120	.		PASS	0.597	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		21	55	21	55	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36339628	36339628	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:36339628A>T	ENST00000378910.5	-	9	1080	c.1081T>A	c.(1081-1083)Tgt>Agt	p.C361S	NPHS1_ENST00000353632.6_Missense_Mutation_p.C361S|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	361	Ig-like C2-type 4.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.C361S(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTGCTGACACAGGAGAGTGTC	0.577																																						uc002oby.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1081-1083)TGT>AGT		nephrin precursor							76.0	67.0	70.0					19																	36339628		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36339628A>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1081T>A	19.37:g.36339628A>T	ENSP00000368190:p.Cys361Ser						p.C361S	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1081	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		361			Ig-like C2-type 4.|Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.1081T>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.133306	0.56828	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.99445	-5.91;-5.91	5.43	5.43	0.79202	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98474	1.0602	10	0.87932	D	0	-17.6856	13.4886	0.61382	1.0:0.0:0.0:0.0	.	361	O60500	NPHN_HUMAN	S	361	ENSP00000368190:C361S;ENSP00000343634:C361S	ENSP00000343634:C361S	C	-	1	0	NPHS1	41031468	1.000000	0.71417	0.926000	0.36857	0.050000	0.14768	6.371000	0.73119	2.081000	0.62600	0.378000	0.23410	TGT		PASS	0.577	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			9	92	9	92	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36350435	36350435	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:36350435C>A	ENST00000360202.5	+	5	773	c.575C>A	c.(574-576)aCc>aAc	p.T192N	KIRREL2_ENST00000262625.7_Missense_Mutation_p.T192N|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.T142N|KIRREL2_ENST00000592409.1_Missense_Mutation_p.T192N	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	192	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.T192N(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTAACCCTGACCCCTTTCAGC	0.572																																						uc002ocb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(574-576)ACC>AAC		kin of IRRE-like 2 isoform c							82.0	76.0	78.0					19																	36350435		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36350435C>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.575C>A	19.37:g.36350435C>A	ENSP00000353331:p.Thr192Asn					KIRREL2_uc002obz.3_Missense_Mutation_p.T192N|KIRREL2_uc002oca.3_Missense_Mutation_p.T142N|KIRREL2_uc002occ.3_Missense_Mutation_p.T139N|KIRREL2_uc002ocd.3_Missense_Mutation_p.T189N	p.T192N	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	787	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		192			Ig-like C2-type 2.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.575C>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.931118	0.34096	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202	T;T;T	0.76186	-1.0;-1.0;-1.0	4.85	3.82	0.43975	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000737	T	0.79661	0.4484	L	0.55017	1.72	0.26661	N	0.971906	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.996	T	0.68439	-0.5408	10	0.22706	T	0.39	-25.6447	9.2351	0.37461	0.0:0.9018:0.0:0.0982	.	192;192;142;192	F1T0I2;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;KIRR2_HUMAN;.;.	N	192;142;192	ENSP00000262625:T192N;ENSP00000345067:T142N;ENSP00000353331:T192N	ENSP00000262625:T192N	T	+	2	0	KIRREL2	41042275	0.992000	0.36948	0.996000	0.52242	0.519000	0.34347	2.013000	0.40942	1.422000	0.47177	-0.147000	0.13772	ACC		PASS	0.572	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		12	112	12	112	---	---	---	---
ZNF226	7769	broad.mit.edu	37	19	44680803	44680803	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:44680803A>G	ENST00000590089.1	+	7	1755	c.1388A>G	c.(1387-1389)cAg>cGg	p.Q463R	ZNF226_ENST00000454662.2_Missense_Mutation_p.Q463R|ZNF226_ENST00000337433.5_Missense_Mutation_p.Q463R|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	463					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.Q463R(1)					Prostate(69;0.0352)|all_neural(266;0.202)				TCAAGTCTTCAGGCCCATCAG	0.433																																					Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1387-1389)CAG>CGG		zinc finger protein 226 isoform a							70.0	77.0	75.0					19																	44680803		2190	4298	6488	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680803A>G	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1388A>G	19.37:g.44680803A>G	ENSP00000465121:p.Gln463Arg					ZNF226_uc002oyq.2_Missense_Mutation_p.Q346R|ZNF226_uc002oyr.2_Missense_Mutation_p.Q346R|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.Q463R|ZNF226_uc002oyt.2_Missense_Mutation_p.Q463R	p.Q463R	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	1532	+		Prostate(69;0.0352)|all_neural(266;0.202)	463			C2H2-type 8.		Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.1388A>G	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	A	6.353	0.433209	0.12045	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.11930	2.73;2.73	3.92	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30959	N	0.008526	T	0.06962	0.0177	N	0.17901	0.54	0.09310	N	1	B	0.26672	0.156	B	0.18263	0.021	T	0.35724	-0.9777	10	0.13108	T	0.6	.	9.1587	0.37009	0.7077:0.2923:0.0:0.0	.	463	Q9NYT6	ZN226_HUMAN	R	463	ENSP00000336719:Q463R;ENSP00000393265:Q463R	ENSP00000336719:Q463R	Q	+	2	0	ZNF226	49372643	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.041000	0.12084	1.786000	0.52430	0.533000	0.62120	CAG		PASS	0.433	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			3	89	3	89	---	---	---	---
KLK12	43849	broad.mit.edu	37	19	51535168	51535168	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:51535168G>T	ENST00000525263.1	-	3	540	c.421C>A	c.(421-423)Cac>Aac	p.H141N	KLK12_ENST00000250351.4_Missense_Mutation_p.H141N|KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000319590.4_Missense_Mutation_p.H141N			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	141	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.H141N(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CCTGAGACGTGGCACTCGGTG	0.677																																						uc002pvg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(421-423)CAC>AAC		kallikrein 12 isoform 2							72.0	78.0	76.0					19																	51535168		2203	4300	6503	SO:0001583	missense	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51535168G>T		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.421C>A	19.37:g.51535168G>T	ENSP00000436458:p.His141Asn					KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.H141N|KLK12_uc002pvi.1_Missense_Mutation_p.H141N|KLK12_uc002pvj.1_Intron	p.H141N	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	3	541	-		all_neural(266;0.026)	141			Peptidase S1.		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	c.421C>A	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	g	12.81	2.048574	0.36181	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250351	D;D;D	0.92752	-3.1;-3.1;-3.1	4.27	4.27	0.50696	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.595581	0.14072	N	0.343306	D	0.84566	0.5500	N	0.05383	-0.06	0.18873	N	0.999984	B;B	0.30406	0.206;0.278	B;B	0.34536	0.185;0.025	T	0.78848	-0.2042	10	0.72032	D	0.01	.	12.4085	0.55453	0.0:0.0:1.0:0.0	.	141;141	Q9UKR0-2;Q9UKR0	.;KLK12_HUMAN	N	141	ENSP00000436458:H141N;ENSP00000324181:H141N;ENSP00000250351:H141N	ENSP00000250351:H141N	H	-	1	0	KLK12	56226980	0.172000	0.23043	0.404000	0.26397	0.276000	0.26787	0.313000	0.19415	2.407000	0.81776	0.650000	0.86243	CAC		PASS	0.677	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		18	136	18	136	---	---	---	---
ZNF816	125893	broad.mit.edu	37	19	53454512	53454512	+	Silent	SNP	A	A	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr19:53454512A>G	ENST00000357666.4	-	5	816	c.516T>C	c.(514-516)acT>acC	p.T172T	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.T172T	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	172					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.T172T(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTTTCCCTTTAGTCTGAAACA	0.403																																						uc002qal.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(514-516)ACT>ACC		zinc finger protein 816A							131.0	145.0	140.0					19																	53454512		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454512A>G	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.516T>C	19.37:g.53454512A>G						ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Silent_p.T156T	p.T172T	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	817	-			172					A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.516T>C	CCDS33096.1																																																																																				PASS	0.403	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		23	167	23	167	---	---	---	---
SIRPG	55423	broad.mit.edu	37	20	1616921	1616921	+	Missense_Mutation	SNP	G	G	A	rs375274090		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr20:1616921G>A	ENST00000303415.3	-	3	725	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	RP11-77C3.3_ENST00000437384.1_RNA|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.R221C|SIRPG_ENST00000381583.2_Missense_Mutation_p.R221C|SIRPG_ENST00000381580.1_Missense_Mutation_p.R188C	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	221	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R221C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ACCTGAGAGCGAACGTCCCAG	0.617																																						uc002wfm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)CGC>TGC		signal-regulatory protein gamma isoform 1		G	CYS/ARG,CYS/ARG,	1,4405		0,1,2202	139.0	123.0	128.0		661,661,	-0.6	0.0	20		128	0,8600		0,0,4300	no	missense,missense,intron	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	180,180,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	221/277,221/388,	1616921	1,13005	2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1616921G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.661C>T	20.37:g.1616921G>A	ENSP00000305529:p.Arg221Cys					SIRPG_uc002wfn.1_Missense_Mutation_p.R221C|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	p.R221C	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			3	726	-			221			Extracellular (Potential).|Ig-like C1-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.661C>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773297	0.31411	2.27E-4	0.0	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.00616	6.2;6.2;6.2;6.2	1.95	-0.623	0.11556	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.067480	0.07196	N	0.856557	T	0.02047	0.0064	M	0.73598	2.24	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.62382	0.886;0.901	T	0.44726	-0.9309	10	0.87932	D	0	.	2.1443	0.03783	0.2049:0.0:0.4917:0.3034	.	221;221	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	C	188;221;221;221	ENSP00000370992:R188C;ENSP00000305529:R221C;ENSP00000370995:R221C;ENSP00000216927:R221C	ENSP00000216927:R221C	R	-	1	0	SIRPG	1564921	0.022000	0.18835	0.001000	0.08648	0.039000	0.13416	1.060000	0.30530	0.148000	0.19059	0.195000	0.17529	CGC		PASS	0.617	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		4	114	4	114	---	---	---	---
BFSP1	631	broad.mit.edu	37	20	17495386	17495386	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr20:17495386C>A	ENST00000377873.3	-	3	553	c.514G>T	c.(514-516)Gca>Tca	p.A172S	BFSP1_ENST00000377868.2_Missense_Mutation_p.A47S|BFSP1_ENST00000544874.1_Missense_Mutation_p.A33S|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000536626.1_Missense_Mutation_p.A33S	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	172	Coil 1B.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.A172S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTGTCCTTTGCCGCACTGATA	0.502																																						uc002wpo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(514-516)GCA>TCA		filensin isoform 1							240.0	215.0	223.0					20																	17495386		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17495386C>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.514G>T	20.37:g.17495386C>A	ENSP00000367104:p.Ala172Ser					BFSP1_uc002wpp.2_Missense_Mutation_p.A47S|BFSP1_uc010zrn.1_Missense_Mutation_p.A33S|BFSP1_uc010zro.1_Missense_Mutation_p.A33S	p.A172S	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			3	553	-			172			Rod.|Coil 1B.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.514G>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193927	0.58017	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.88741	-2.42;1.35;1.35;1.35	5.41	3.46	0.39613	Filament (1);	0.177867	0.52532	D	0.000063	D	0.89856	0.6836	L	0.50333	1.59	0.32403	N	0.551646	D;D	0.76494	0.974;0.999	P;D	0.63033	0.747;0.91	D	0.88388	0.3006	10	0.25751	T	0.34	-11.6391	9.3615	0.38199	0.0:0.8263:0.0:0.1737	.	47;172	Q12934-2;Q12934	.;BFSP1_HUMAN	S	172;47;33;33	ENSP00000367104:A172S;ENSP00000367099:A47S;ENSP00000442522:A33S;ENSP00000439870:A33S	ENSP00000367099:A47S	A	-	1	0	BFSP1	17443386	0.935000	0.31712	0.579000	0.28588	0.747000	0.42532	1.497000	0.35649	1.421000	0.47157	0.655000	0.94253	GCA		PASS	0.502	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		11	240	11	240	---	---	---	---
BCL2L1	598	broad.mit.edu	37	20	30253775	30253776	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr20:30253775_30253776CC>AG	ENST00000307677.4	-	3	1088_1089	c.678_679GG>CT	c.(676-681)ctGGgc>ctCTgc	p.G227C	BCL2L1_ENST00000376062.2_Missense_Mutation_p.G227C|BCL2L1_ENST00000376055.4_Missense_Mutation_p.G164C|BCL2L1_ENST00000420653.1_Missense_Mutation_p.G227C	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	227					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.G227C(2)|p.L226L(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAGAGTGAGCCCAGCAGAACCA	0.599																																					Colon(51;693 1004 1401 20431 21026)	uc002wwl.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(1)|central_nervous_system(1)	2						c.(679-681)GGC>TGC|c.(676-678)CTG>CTC		BCL2-like 1 isoform 1																																				SO:0001583	missense	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30253775C>A|g.chr20:30253776C>G	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.678_679delinsAG	20.37:g.30253775_30253776delinsAG	ENSP00000302564:p.Gly227Cys					BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Missense_Mutation_p.G164C|BCL2L1_uc002wwn.2_Missense_Mutation_p.G227C|BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Silent_p.L163L|BCL2L1_uc002wwn.2_Silent_p.L226L	p.G227C|p.L226L	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		3	1045|1044	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		227|226			|Helical; (Potential).		E1P5L6|Q5CZ89|Q5TE65|Q92976	Missense_Mutation|Silent	SNP	ENST00000307677.4	37	c.679G>T|c.678G>C	CCDS13189.1																																																																																				PASS	0.599	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		11|10	70|71	10	70	---	---	---	---
SEMG2	6407	broad.mit.edu	37	20	43850507	43850507	+	Nonsense_Mutation	SNP	G	G	A	rs557082400		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr20:43850507G>A	ENST00000372769.3	+	2	324	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	78	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.W78*(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATCATGACTGGACCCGAAAAA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		21623	0.0		0.0	False		,,,				2504	0.001					uc010ggz.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(232-234)TGG>TGA		semenogelin II precursor							122.0	113.0	116.0					20																	43850507		2203	4300	6503	SO:0001587	stop_gained	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850507G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.234G>A	20.37:g.43850507G>A	ENSP00000361855:p.Trp78*					SEMG2_uc002xnk.2_Nonsense_Mutation_p.W78*|SEMG2_uc002xnl.2_Nonsense_Mutation_p.W78*	p.W78*	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	291	+		Myeloproliferative disorder(115;0.0122)	78			Repeat-rich region.|3-1.		Q53ZU2|Q6X2M5|Q6X2M6	Nonsense_Mutation	SNP	ENST00000372769.3	37	c.234G>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791103	0.31685	.	.	ENSG00000124157	ENST00000372769	.	.	.	1.28	0.269	0.15631	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	3.4946	0.07650	0.2776:0.0:0.7224:0.0	.	.	.	.	X	78	.	ENSP00000361855:W78X	W	+	3	0	SEMG2	43283921	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.226000	0.09139	0.099000	0.17552	0.557000	0.71058	TGG		PASS	0.373	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		6	75	6	75	---	---	---	---
IGLV1-47	28822	broad.mit.edu	37	22	22712462	22712462	+	RNA	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr22:22712462T>C	ENST00000390294.2	+	0	261									immunoglobulin lambda variable 1-47																		ACTCCTCATCTATAGTAATAA	0.562																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							96.0	97.0	97.0					22																	22712462		1825	4077	5902			96610							g.chr22:22712462T>C	Z73663		22q11.2	2012-02-08			ENSG00000211648	ENSG00000211648		"""Immunoglobulins / IGL locus"""	5880	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151048		22.37:g.22712462T>C														41		+									RNA	SNP	ENST00000390294.2	37	c.4250T>C																																																																																					PASS	0.562	IGLV1-47-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321108.2	NG_000002		4	188	4	188	---	---	---	---
IGLV1-47	28822	broad.mit.edu	37	22	22712501	22712501	+	RNA	SNP	T	T	G	rs569930851	byFrequency	TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr22:22712501T>G	ENST00000390294.2	+	0	300									immunoglobulin lambda variable 1-47																		CCCTGACCGATTCTCTGGCTC	0.557																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							103.0	101.0	102.0					22																	22712501		1870	4091	5961			96610							g.chr22:22712501T>G	Z73663		22q11.2	2012-02-08			ENSG00000211648	ENSG00000211648		"""Immunoglobulins / IGL locus"""	5880	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151048		22.37:g.22712501T>G														41		+									RNA	SNP	ENST00000390294.2	37	c.4289T>G																																																																																					PASS	0.557	IGLV1-47-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321108.2	NG_000002		6	202	6	202	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30415501	30415501	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr22:30415501C>A	ENST00000401950.2	+	17	2195	c.1853C>A	c.(1852-1854)aCc>aAc	p.T618N	MTMR3_ENST00000323630.5_Missense_Mutation_p.T482N|MTMR3_ENST00000406629.1_Missense_Mutation_p.T618N|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.T618N|MTMR3_ENST00000333027.3_Missense_Mutation_p.T618N|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	618					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.T618N(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GACAATCTGACCACAGCCTGT	0.532																																						uc003agv.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1852-1854)ACC>AAC		myotubularin-related protein 3 isoform c							55.0	57.0	57.0					22																	30415501		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415501C>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1853C>A	22.37:g.30415501C>A	ENSP00000384651:p.Thr618Asn					MTMR3_uc003agu.3_Missense_Mutation_p.T618N|MTMR3_uc003agw.3_Missense_Mutation_p.T618N	p.T618N	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2181	+			618					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.1853C>A	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525943	0.27299	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93488	-3.03;-3.01;-3.23;-3.06;-3.01	5.75	3.68	0.42216	.	0.258733	0.38720	N	0.001597	D	0.90515	0.7028	L	0.46157	1.445	0.35224	D	0.776326	P;B;P	0.37141	0.584;0.242;0.584	B;B;B	0.39562	0.303;0.105;0.303	D	0.88611	0.3156	10	0.27785	T	0.31	.	13.582	0.61909	0.0:0.8203:0.1145:0.0652	.	618;618;618	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	N	618;618;482;618;618	ENSP00000384651:T618N;ENSP00000331649:T618N;ENSP00000318070:T482N;ENSP00000307271:T618N;ENSP00000384077:T618N	ENSP00000318070:T482N	T	+	2	0	MTMR3	28745501	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	4.361000	0.59461	0.377000	0.24735	-0.795000	0.03280	ACC		PASS	0.532	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		3	86	3	86	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37333578	37333578	+	Silent	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr22:37333578C>T	ENST00000403662.3	+	14	1950	c.1728C>T	c.(1726-1728)gcC>gcT	p.A576A	CSF2RB_ENST00000406230.1_Silent_p.A582A|CSF2RB_ENST00000536485.1_Silent_p.A523A|CSF2RB_ENST00000262825.5_Silent_p.A582A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	576					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.A576A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CGCCTGCCGCCTCCCACACAC	0.657																																						uc003aqa.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)|pancreas(1)	3						c.(1726-1728)GCC>GCT		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						20.0	23.0	22.0					22																	37333578		2202	4298	6500	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333578C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1728C>T	22.37:g.37333578C>T						CSF2RB_uc003aqc.3_Silent_p.A582A	p.A576A	NM_000395	NP_000386	P32927	IL3RB_HUMAN			14	1945	+			576			Cytoplasmic (Potential).		Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.1728C>T	CCDS13936.1																																																																																				PASS	0.657	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		4	26	4	26	---	---	---	---
KLHDC7B	113730	broad.mit.edu	37	22	50988132	50988132	+	Missense_Mutation	SNP	A	A	G	rs137863644		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr22:50988132A>G	ENST00000395676.2	+	1	1671	c.1537A>G	c.(1537-1539)Aca>Gca	p.T513A	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	513								p.T414A(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCTACAACACAGTGACCGG	0.697																																						uc003bmi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1537-1539)ACA>GCA		kelch domain containing 7B							26.0	30.0	29.0					22																	50988132		2193	4278	6471	SO:0001583	missense	113730							g.chr22:50988132A>G	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1537A>G	22.37:g.50988132A>G	ENSP00000379034:p.Thr513Ala						p.T513A	NM_138433	NP_612442	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1671	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	513			Kelch 5.			Missense_Mutation	SNP	ENST00000395676.2	37	c.1537A>G	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210805	0.39102	.	.	ENSG00000130487	ENST00000395676	T	0.06142	3.34	5.45	5.45	0.79879	Kelch-type beta propeller (1);	0.000000	0.42682	U	0.000664	T	0.07098	0.0180	L	0.37630	1.12	0.29759	N	0.835686	B	0.28713	0.22	B	0.36885	0.235	T	0.19353	-1.0308	10	0.23302	T	0.38	.	8.8665	0.35289	0.8331:0.0:0.0:0.1668	.	513	Q96G42	KLD7B_HUMAN	A	513	ENSP00000379034:T513A	ENSP00000379034:T513A	T	+	1	0	KLHDC7B	49334998	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	2.209000	0.42806	2.082000	0.62665	0.402000	0.26972	ACA		PASS	0.697	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		3	57	3	57	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9863737	9863737	+	Missense_Mutation	SNP	C	C	G	rs374862299		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:9863737C>G	ENST00000380913.3	+	4	1879	c.1789C>G	c.(1789-1791)Cgg>Ggg	p.R597G		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	597					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.R597G(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGGGAAGCGCCGGCCTGAGAG	0.682																																						uc004csu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1789-1791)CGG>GGG		apical protein of Xenopus-like							11.0	14.0	13.0					X																	9863737		2171	4267	6438	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9863737C>G	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1789C>G	X.37:g.9863737C>G	ENSP00000370299:p.Arg597Gly						p.R597G	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	1879	+		Hepatocellular(5;0.000888)	597					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.1789C>G	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	6.708	0.499236	0.12762	.	.	ENSG00000146950	ENST00000380913	T	0.15834	2.39	4.63	1.17	0.20885	.	1.928840	0.02601	N	0.101049	T	0.17874	0.0429	L	0.53249	1.67	0.09310	N	1	P	0.37276	0.589	B	0.28465	0.09	T	0.37686	-0.9695	10	0.38643	T	0.18	-9.4699	10.3807	0.44110	0.2823:0.602:0.1157:0.0	.	597	Q13796	SHRM2_HUMAN	G	597	ENSP00000370299:R597G	ENSP00000370299:R597G	R	+	1	2	SHROOM2	9823737	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.346000	0.19997	0.227000	0.20999	0.600000	0.82982	CGG		PASS	0.682	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		2	9	2	9	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27999274	27999274	+	Missense_Mutation	SNP	G	G	T	rs139451923	byFrequency	TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:27999274G>T	ENST00000441525.1	-	1	292	c.178C>A	c.(178-180)Ctg>Atg	p.L60M		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	60								p.L60M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GCATCGTTCAGGAAACCACCA	0.507																																						uc004dbx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(178-180)CTG>ATG		DDB1 and CUL4 associated factor 8-like 1							153.0	110.0	125.0					X																	27999274		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27999274G>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.178C>A	X.37:g.27999274G>T	ENSP00000405222:p.Leu60Met						p.L60M	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	293	-			60					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.178C>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	G	4.442	0.081801	0.08533	.	.	ENSG00000226372	ENST00000441525	T	0.64085	-0.08	0.842	0.842	0.18927	.	0.690967	0.13332	N	0.395821	T	0.39937	0.1097	N	0.19112	0.55	0.09310	N	1	P	0.38167	0.621	B	0.32805	0.153	T	0.21861	-1.0233	9	0.48119	T	0.1	1.5428	.	.	.	.	60	A6NGE4	DC8L1_HUMAN	M	60	ENSP00000405222:L60M	ENSP00000405222:L60M	L	-	1	2	DCAF8L1	27909195	0.869000	0.29996	0.001000	0.08648	0.028000	0.11728	1.318000	0.33643	0.691000	0.31592	0.284000	0.19432	CTG		PASS	0.507	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		12	105	12	105	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32360339	32360339	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:32360339C>G	ENST00000357033.4	-	41	6006	c.5800G>C	c.(5800-5802)Gag>Cag	p.E1934Q	DMD_ENST00000378677.2_Missense_Mutation_p.E1930Q	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	1934					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.E1934Q(1)|p.E1929Q(1)|p.E1930Q(1)|p.E593Q(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)				GACAAGCCCTCAGCTTGCCTA	0.522																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6	GRCh37	CM013377	DMD	M		c.(5800-5802)GAG>CAG		dystrophin Dp427m isoform							103.0	73.0	83.0					X																	32360339		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32360339C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5800G>C	X.37:g.32360339C>G	ENSP00000354923:p.Glu1934Gln					DMD_uc004dcw.2_Missense_Mutation_p.E590Q|DMD_uc004dcx.2_Missense_Mutation_p.E593Q|DMD_uc004dcz.2_Missense_Mutation_p.E1811Q|DMD_uc004dcy.1_Missense_Mutation_p.E1930Q|DMD_uc004ddb.1_Missense_Mutation_p.E1926Q|DMD_uc010ngo.1_Intron	p.E1934Q	NM_004006	NP_003997	P11532	DMD_HUMAN			41	6044	-		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)	1934			Spectrin 13.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5800G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387647	0.42308	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.32988	1.43;1.43	5.76	5.76	0.90799	.	0.000000	0.37136	U	0.002227	T	0.32882	0.0844	N	0.24115	0.695	0.80722	D	1	P;P;P;P;P	0.47191	0.867;0.891;0.891;0.761;0.761	P;P;P;B;B	0.49012	0.463;0.598;0.598;0.406;0.406	T	0.02721	-1.1119	10	0.37606	T	0.19	.	18.8949	0.92419	0.0:1.0:0.0:0.0	.	1926;1934;1930;593;590	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Q	1926;593;590;1930;1934;1934;1811	ENSP00000367948:E1930Q;ENSP00000354923:E1934Q	ENSP00000354923:E1934Q	E	-	1	0	DMD	32270260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.008000	0.57103	2.409000	0.81822	0.594000	0.82650	GAG		PASS	0.522	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	59	12	59	---	---	---	---
SSX5	6758	broad.mit.edu	37	X	48047126	48047126	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:48047126C>G	ENST00000376923.1	-	6	507	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	SSX5_ENST00000311798.1_Missense_Mutation_p.E211Q|SSX5_ENST00000347757.1_Missense_Mutation_p.E170Q			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.E211Q(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TGCTTTCTCTCACGCACTCTG	0.498																																						uc004dja.1																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)GAG>CAG		synovial sarcoma, X breakpoint 5 isoform b							320.0	275.0	290.0					X																	48047126		2203	4299	6502	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48047126C>G	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.508G>C	X.37:g.48047126C>G	ENSP00000366122:p.Glu170Gln					SSX5_uc004diz.1_Missense_Mutation_p.E211Q	p.E170Q	NM_175723	NP_783729	O60225	SSX5_HUMAN			7	561	-			170					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.508G>C	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	11.64	1.698682	0.30142	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	T;T;T;T	0.57273	1.74;1.58;1.58;0.41	1.67	0.761	0.18448	SSXRD motif (1);	0.455677	0.18635	N	0.135463	T	0.61426	0.2346	L	0.61218	1.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.48969	-0.8987	10	0.56958	D	0.05	.	3.6082	0.08050	0.0:0.7376:0.0:0.2624	.	170;211	O60225;O60225-2	SSX5_HUMAN;.	Q	211;170;170;110	ENSP00000312415:E211Q;ENSP00000366122:E170Q;ENSP00000290558:E170Q;ENSP00000385051:E110Q	ENSP00000312415:E211Q	E	-	1	0	SSX5	47932070	0.003000	0.15002	0.001000	0.08648	0.106000	0.19336	-0.352000	0.07701	0.187000	0.20147	0.181000	0.17075	GAG		PASS	0.498	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		29	468	29	468	---	---	---	---
KCND1	3750	broad.mit.edu	37	X	48825921	48825921	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:48825921G>T	ENST00000218176.3	-	1	2055	c.758C>A	c.(757-759)gCc>gAc	p.A253D	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	253					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.A253D(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	ACGGCTGGGGGCGGCAAACAG	0.582																																						uc004dlx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(757-759)GCC>GAC		potassium voltage-gated channel, Shal-related							28.0	27.0	27.0					X																	48825921		2203	4298	6501	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48825921G>T	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.758C>A	X.37:g.48825921G>T	ENSP00000218176:p.Ala253Asp					KCND1_uc004dlw.1_5'Flank	p.A253D	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			1	2331	-			253			Cytoplasmic (Potential).		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.758C>A	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011792	0.75046	.	.	ENSG00000102057	ENST00000218176	D	0.97941	-4.62	5.45	5.45	0.79879	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	H	0.95402	3.665	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99297	1.0900	10	0.87932	D	0	.	17.0203	0.86432	0.0:0.0:1.0:0.0	.	253	Q9NSA2	KCND1_HUMAN	D	253	ENSP00000218176:A253D	ENSP00000218176:A253D	A	-	2	0	KCND1	48710865	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.870000	0.87175	2.282000	0.76494	0.594000	0.82650	GCC		PASS	0.582	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		4	37	4	37	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50053412	50053412	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:50053412C>T	ENST00000376042.1	+	6	2541	c.2243C>T	c.(2242-2244)tCt>tTt	p.S748F	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S748F			Q8WWL7	CCNB3_HUMAN	cyclin B3	748					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.S748F(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACACAATTATCTTTAAAGAAG	0.418																																						uc004dox.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(2242-2244)TCT>TTT		cyclin B3 isoform 3							30.0	29.0	29.0					X																	50053412		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053412C>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2243C>T	X.37:g.50053412C>T	ENSP00000365210:p.Ser748Phe					CCNB3_uc004doy.2_Missense_Mutation_p.S748F|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.S748F	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	2541	+	Ovarian(276;0.236)		748					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2243C>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199110	0.38806	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.37235	1.21;1.21	4.05	0.0433	0.14221	.	.	.	.	.	T	0.26048	0.0635	L	0.54323	1.7	0.09310	N	1	P	0.34724	0.465	B	0.32211	0.142	T	0.17167	-1.0378	8	.	.	.	.	2.5031	0.04638	0.1808:0.3626:0.3477:0.1089	.	748	Q8WWL7	CCNB3_HUMAN	F	748	ENSP00000365210:S748F;ENSP00000276014:S748F	.	S	+	2	0	CCNB3	50070152	0.993000	0.37304	0.002000	0.10522	0.052000	0.14988	0.215000	0.17562	-0.111000	0.12001	-0.218000	0.12543	TCT		PASS	0.418	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			4	29	4	29	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50133404	50133405	+	RNA	DNP	CC	CC	AG			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:50133404_50133405CC>AG	ENST00000376025.2	-	0	1906_1907							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.W412S(2)|p.W412C(1)|p.W412F(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)					TCATCACACTCCATCTGAAATG	0.391																																						uc010njr.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)|kidney(1)	2						c.(1846-1848)TGG>TGT|c.(1846-1848)TGG>TCG		diacylglycerol kinase kappa																																						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:50133404C>A|g.chrX:50133405C>G	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		Exception_encountered	X.37:g.50133404_50133405delinsAG							p.W616C|p.W616S	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			12	1908|1907	-	Ovarian(276;0.236)		616			DAGKc.		B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.1848G>T|c.1847G>C																																																																																					PASS	0.391	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		27|26	176|175	26	175	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50376730	50376730	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:50376730G>T	ENST00000289292.7	-	4	2626	c.2343C>A	c.(2341-2343)agC>agA	p.S781R	SHROOM4_ENST00000376020.2_Missense_Mutation_p.S781R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S665R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	781					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.S781R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATAAGGATTTGCTACTCTCTT	0.433																																						uc004dpe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2341-2343)AGC>AGA		shroom family member 4							80.0	81.0	81.0					X																	50376730		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376730G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2343C>A	X.37:g.50376730G>T	ENSP00000289292:p.Ser781Arg					SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.S665R	p.S781R	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	2369	-	Ovarian(276;0.236)		781					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2343C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691922	0.30052	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88354	-2.37;-2.37;-2.37	5.74	3.97	0.46021	.	0.105073	0.64402	D	0.000006	D	0.90075	0.6900	L	0.36672	1.1	0.46823	D	0.999211	D	0.76494	0.999	D	0.66716	0.946	D	0.89262	0.3598	10	0.87932	D	0	.	10.4322	0.44413	0.1643:0.0:0.8357:0.0	.	781	Q9ULL8	SHRM4_HUMAN	R	781;781;665	ENSP00000289292:S781R;ENSP00000365188:S781R;ENSP00000421450:S665R	ENSP00000289292:S781R	S	-	3	2	SHROOM4	50393470	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.718000	0.47236	0.575000	0.29434	0.600000	0.82982	AGC		PASS	0.433	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		17	135	17	135	---	---	---	---
MAGED2	10916	broad.mit.edu	37	X	54838617	54838617	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:54838617G>T	ENST00000375068.1	+	7	1251	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y	MAGED2_ENST00000375058.1_Missense_Mutation_p.D340Y|MAGED2_ENST00000347546.4_Missense_Mutation_p.D322Y|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000396224.1_Missense_Mutation_p.D340Y|MAGED2_ENST00000375060.1_Missense_Mutation_p.D255Y|MAGED2_ENST00000375062.4_Missense_Mutation_p.D255Y|MAGED2_ENST00000218439.4_Missense_Mutation_p.D340Y|MAGED2_ENST00000375053.2_Missense_Mutation_p.D340Y			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	340	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)		p.D340Y(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						GAAGGAAATTGATAAGAATGA	0.498																																						uc004dtk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1018-1020)GAT>TAT		melanoma antigen family D, 2							78.0	67.0	71.0					X																	54838617		2203	4300	6503	SO:0001583	missense	10916							g.chrX:54838617G>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.1018G>T	X.37:g.54838617G>T	ENSP00000364209:p.Asp340Tyr					MAGED2_uc004dtl.1_Missense_Mutation_p.D340Y|MAGED2_uc004dtm.1_Missense_Mutation_p.D255Y|MAGED2_uc010nkc.1_Missense_Mutation_p.D340Y|MAGED2_uc004dtn.1_Missense_Mutation_p.D340Y|MAGED2_uc004dto.1_Missense_Mutation_p.D314Y|SNORA11_uc004dtp.1_5'Flank	p.D340Y	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN			7	1112	+			340			MAGE.		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.1018G>T	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	g	13.72	2.321392	0.41096	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38;3.38	3.67	3.67	0.42095	.	0.000000	0.37261	N	0.002169	T	0.24509	0.0594	M	0.89478	3.035	0.53688	D	0.999975	P;P;P	0.49696	0.863;0.927;0.887	P;P;P	0.56648	0.703;0.759;0.803	T	0.14727	-1.0462	10	0.62326	D	0.03	.	14.2273	0.65868	0.0:0.0:1.0:0.0	.	322;255;340	Q9UNF1-2;Q5H907;Q9UNF1	.;.;MAGD2_HUMAN	Y	340;340;284;322;255;340;340;255;340	ENSP00000364209:D340Y;ENSP00000364193:D340Y;ENSP00000336962:D284Y;ENSP00000340290:D322Y;ENSP00000364202:D255Y;ENSP00000218439:D340Y;ENSP00000364198:D340Y;ENSP00000364200:D255Y;ENSP00000379526:D340Y	ENSP00000218439:D340Y	D	+	1	0	MAGED2	54855342	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	6.728000	0.74769	1.776000	0.52262	0.509000	0.49947	GAT		PASS	0.498	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		6	70	6	70	---	---	---	---
FOXR2	139628	broad.mit.edu	37	X	55650240	55650240	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:55650240G>A	ENST00000339140.3	+	1	408	c.96G>A	c.(94-96)ctG>ctA	p.L32L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	32					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L32L(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AGTTATTTCTGCCTTGTACCA	0.468																																						uc004duo.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(94-96)CTG>CTA		forkhead box R2							100.0	90.0	94.0					X																	55650240		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650240G>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.96G>A	X.37:g.55650240G>A							p.L32L	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	408	+			32						Silent	SNP	ENST00000339140.3	37	c.96G>A	CCDS35308.1																																																																																				PASS	0.468	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		13	100	13	100	---	---	---	---
AMER1	139285	broad.mit.edu	37	X	63411933	63411933	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:63411933T>G	ENST00000330258.3	-	2	1506	c.1234A>C	c.(1234-1236)Act>Cct	p.T412P	AMER1_ENST00000403336.1_Missense_Mutation_p.T412P|AMER1_ENST00000374869.3_Missense_Mutation_p.T412P	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	412					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.T412P(2)									ATTTGGGCAGTTTCCCACAGA	0.502																																						uc004dvo.2																			69	Whole gene deletion(67)|Substitution - Missense(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1234-1236)ACT>CCT		family with sequence similarity 123B							234.0	218.0	223.0					X																	63411933		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63411933T>G	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1234A>C	X.37:g.63411933T>G	ENSP00000329117:p.Thr412Pro						p.T412P	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1507	-			412					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1234A>C	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	4.118	0.020020	0.08006	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.47177	0.88;0.85;0.88	5.17	4.0	0.46444	.	0.639410	0.16131	N	0.228165	T	0.23846	0.0577	N	0.08118	0	0.09310	N	1	B	0.30937	0.301	B	0.29663	0.105	T	0.11767	-1.0574	10	0.28530	T	0.3	-2.3048	5.9322	0.19144	0.0:0.2027:0.0:0.7973	.	412	Q5JTC6	F123B_HUMAN	P	412	ENSP00000364003:T412P;ENSP00000329117:T412P;ENSP00000384722:T412P	ENSP00000329117:T412P	T	-	1	0	FAM123B	63328658	0.182000	0.23173	0.975000	0.42487	0.213000	0.24496	1.031000	0.30165	0.883000	0.36040	0.486000	0.48141	ACT		PASS	0.502	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		6	118	6	118	---	---	---	---
AR	367	broad.mit.edu	37	X	66765851	66765851	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:66765851C>A	ENST00000374690.3	+	1	1387	c.863C>A	c.(862-864)gCc>gAc	p.A288D	AR_ENST00000504326.1_Missense_Mutation_p.A288D|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.A288D	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	286	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.A288D(1)|p.A98D(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)	GCCCCATTGGCCGAATGCAAA	0.557									Androgen Insensitivity Syndrome																													uc004dwu.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(862-864)GCC>GAC		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						82.0	67.0	72.0					X																	66765851		2203	4300	6503	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:66765851C>A	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.863C>A	X.37:g.66765851C>A	ENSP00000363822:p.Ala288Asp					AR_uc011mpd.1_Missense_Mutation_p.A288D|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.A288D	p.A288D	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	1978	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	286			Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.863C>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	12.47	1.947750	0.34377	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95724	-3.79;-3.79;-3.79	4.88	2.15	0.27550	.	0.837923	0.10620	N	0.653384	D	0.97228	0.9094	M	0.88640	2.97	0.09310	N	1	P;P;B	0.42620	0.785;0.589;0.379	P;P;B	0.60068	0.868;0.58;0.29	D	0.90000	0.4114	10	0.37606	T	0.19	.	6.1431	0.20271	0.0:0.6717:0.0:0.3283	.	288;288;286	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	D	98;288;288;288;280	ENSP00000363822:A288D;ENSP00000421155:A288D;ENSP00000379359:A288D	ENSP00000363822:A288D	A	+	2	0	AR	66682576	0.931000	0.31567	0.013000	0.15412	0.608000	0.37181	0.994000	0.29693	0.138000	0.18790	0.509000	0.49947	GCC		PASS	0.557	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		6	57	6	57	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963303	73963303	+	Silent	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:73963303T>C	ENST00000055682.6	-	3	1700	c.1089A>G	c.(1087-1089)caA>caG	p.Q363Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	363					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.Q363Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGACCTTGAATTGGGAAAAAT	0.478																																						uc004eby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1087-1089)CAA>CAG		hypothetical protein LOC340533							79.0	74.0	76.0					X																	73963303		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963303T>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1089A>G	X.37:g.73963303T>C							p.Q363Q	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1706	-			363					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.1089A>G	CCDS35337.1																																																																																				PASS	0.478	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		18	83	18	83	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79946652	79946652	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:79946652C>T	ENST00000373275.4	-	31	3718	c.3502G>A	c.(3502-3504)Gtt>Att	p.V1168I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1168	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.V1168I(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						TCCACTGGAACAGCAAAAGGG	0.368																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3502-3504)GTT>ATT		bromodomain and WD repeat domain containing 3							73.0	69.0	70.0					X																	79946652		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79946652C>T		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.3502G>A	X.37:g.79946652C>T	ENSP00000362372:p.Val1168Ile					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.V764I|BRWD3_uc004edp.2_Missense_Mutation_p.V997I|BRWD3_uc004edq.2_Missense_Mutation_p.V764I|BRWD3_uc010nmj.1_Missense_Mutation_p.V764I|BRWD3_uc004edr.2_Missense_Mutation_p.V838I|BRWD3_uc004eds.2_Missense_Mutation_p.V764I|BRWD3_uc004edu.2_Missense_Mutation_p.V838I|BRWD3_uc004edv.2_Missense_Mutation_p.V764I|BRWD3_uc004edw.2_Missense_Mutation_p.V764I|BRWD3_uc004edx.2_Missense_Mutation_p.V764I|BRWD3_uc004edy.2_Missense_Mutation_p.V764I|BRWD3_uc004edz.2_Missense_Mutation_p.V838I|BRWD3_uc004eea.2_Missense_Mutation_p.V838I|BRWD3_uc004eeb.2_Missense_Mutation_p.V764I	p.V1168I	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			31	3765	-			1168			Bromo 1.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.3502G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056212	0.76074	.	.	ENSG00000165288	ENST00000373275	T	0.29142	1.58	4.81	4.81	0.61882	Bromodomain (5);	0.294211	0.34245	N	0.004138	T	0.32071	0.0817	L	0.34521	1.04	0.30700	N	0.750375	P	0.39311	0.667	P	0.45232	0.474	T	0.17501	-1.0367	9	.	.	.	-13.6834	17.0235	0.86440	0.0:1.0:0.0:0.0	.	1168	Q6RI45	BRWD3_HUMAN	I	1168	ENSP00000362372:V1168I	.	V	-	1	0	BRWD3	79833308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.948000	0.49066	2.197000	0.70478	0.600000	0.82982	GTT		PASS	0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		10	59	10	59	---	---	---	---
HDX	139324	broad.mit.edu	37	X	83724491	83724491	+	Silent	SNP	G	G	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:83724491G>A	ENST00000297977.5	-	3	351	c.240C>T	c.(238-240)atC>atT	p.I80I	HDX_ENST00000506585.2_Silent_p.I22I|HDX_ENST00000373177.2_Silent_p.I80I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	80						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I80M(1)|p.I80I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCTGACTGTGATGTCTGGAG	0.438																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(238-240)ATC>ATT		highly divergent homeobox							102.0	88.0	93.0					X																	83724491		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724491G>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.240C>T	X.37:g.83724491G>A						HDX_uc011mqv.1_Silent_p.I80I|HDX_uc004eel.1_Silent_p.I22I	p.I80I	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	349	-			80					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.240C>T	CCDS35342.1																																																																																				PASS	0.438	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		14	56	14	56	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004380	102004380	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:102004380C>G	ENST00000372735.1	+	4	1042	c.457C>G	c.(457-459)Cct>Gct	p.P153A	BHLHB9_ENST00000447531.1_Missense_Mutation_p.P153A|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P153A|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P153A|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P153A			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	153					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.P153A(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGTTGGAACCTGCGGCTGG	0.488																																						uc010nog.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(457-459)CCT>GCT		basic helix-loop-helix domain containing, class							79.0	83.0	82.0					X																	102004380		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004380C>G	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.457C>G	X.37:g.102004380C>G	ENSP00000361820:p.Pro153Ala					BHLHB9_uc011mrq.1_Missense_Mutation_p.P153A|BHLHB9_uc011mrr.1_Missense_Mutation_p.P153A|BHLHB9_uc011mrs.1_Missense_Mutation_p.P153A|BHLHB9_uc011mrt.1_Missense_Mutation_p.P153A|BHLHB9_uc004ejo.2_Missense_Mutation_p.P153A|BHLHB9_uc011mru.1_Missense_Mutation_p.P153A|BHLHB9_uc011mrv.1_Missense_Mutation_p.P153A	p.P153A	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1028	+			153					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.457C>G	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.533753	0.00145	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.21	-3.09	0.05331	.	0.894418	0.09243	N	0.828947	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44952	-0.9294	9	.	.	.	-5.2781	5.0524	0.14514	0.0:0.2114:0.2976:0.4911	.	153	Q6PI77	BHLH9_HUMAN	A	153	ENSP00000403226:P153A;ENSP00000354675:P153A;ENSP00000405893:P153A;ENSP00000391722:P153A;ENSP00000361820:P153A	.	P	+	1	0	BHLHB9	101891036	0.115000	0.22152	0.001000	0.08648	0.050000	0.14768	-0.369000	0.07533	-0.881000	0.03992	0.483000	0.47432	CCT		PASS	0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		34	181	34	181	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123205067	123205067	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:123205067G>T	ENST00000371160.1	+	25	2717	c.2427G>T	c.(2425-2427)atG>atT	p.M809I	STAG2_ENST00000371144.3_Missense_Mutation_p.M809I|STAG2_ENST00000371145.3_Missense_Mutation_p.M809I|STAG2_ENST00000371157.3_Missense_Mutation_p.M809I|STAG2_ENST00000218089.9_Missense_Mutation_p.M809I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.M740I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	809					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.M809I(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GGCGTGACATGTTAGAGCCAT	0.363																																						uc004etz.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(2425-2427)ATG>ATT		stromal antigen 2 isoform b							224.0	198.0	207.0					X																	123205067		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123205067G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2427G>T	X.37:g.123205067G>T	ENSP00000360202:p.Met809Ile					STAG2_uc004eua.2_Missense_Mutation_p.M809I|STAG2_uc004eub.2_Missense_Mutation_p.M809I|STAG2_uc004euc.2_Missense_Mutation_p.M809I|STAG2_uc004eud.2_Missense_Mutation_p.M809I|STAG2_uc004eue.2_Missense_Mutation_p.M809I	p.M809I	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			24	2766	+			809					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2427G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	9.901	1.206836	0.22205	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.44	5.44	0.79542	.	0.140169	0.64402	D	0.000004	T	0.11965	0.0291	N	0.02011	-0.69	0.27366	N	0.955837	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16512	-1.0400	10	0.22109	T	0.4	-15.8504	10.6245	0.45500	0.0:0.1384:0.7156:0.146	.	809;809	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	809;740;809;809;809;809	ENSP00000218089:M809I;ENSP00000346555:M740I;ENSP00000360202:M809I;ENSP00000360199:M809I;ENSP00000360187:M809I;ENSP00000360186:M809I	ENSP00000218089:M809I	M	+	3	0	STAG2	123032748	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.071000	0.41500	2.278000	0.76064	0.538000	0.68166	ATG		PASS	0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		29	235	29	235	---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299535	125299535	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:125299535C>G	ENST00000360028.2	-	1	399	c.373G>C	c.(373-375)Gtg>Ctg	p.V125L	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.V125L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	125								p.V125L(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGACTGCACGTCCACCACA	0.642																																						uc004euk.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(373-375)GTG>CTG		DDB1 and CUL4 associated factor 12-like 2							89.0	79.0	82.0					X																	125299535		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299535C>G	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.373G>C	X.37:g.125299535C>G	ENSP00000353128:p.Val125Leu						p.V125L	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	400	-			125					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.373G>C	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	11.06	1.526800	0.27299	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.55930	0.49;0.49	3.8	2.93	0.34026	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.63307	0.2500	M	0.63428	1.95	0.34822	D	0.738826	D	0.69078	0.997	D	0.76575	0.988	T	0.67677	-0.5609	9	0.38643	T	0.18	.	6.224	0.20698	0.0:0.8606:0.0:0.1394	.	125	Q5VW00	DC122_HUMAN	L	125	ENSP00000441489:V125L;ENSP00000353128:V125L	ENSP00000353128:V125L	V	-	1	0	DCAF12L2	125127216	1.000000	0.71417	0.034000	0.17996	0.011000	0.07611	4.466000	0.60148	0.952000	0.37798	0.540000	0.68198	GTG		PASS	0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		21	87	21	87	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128649887	128649887	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:128649887A>T	ENST00000371122.4	-	4	642	c.513T>A	c.(511-513)ttT>ttA	p.F171L	SMARCA1_ENST00000371121.3_Missense_Mutation_p.F171L|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Missense_Mutation_p.F171L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	171					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F171L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GTGACACCTCAAATCTAATAC	0.348																																						uc004eun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(511-513)TTT>TTA		SWI/SNF-related matrix-associated							157.0	127.0	137.0					X																	128649887		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128649887A>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.513T>A	X.37:g.128649887A>T	ENSP00000360163:p.Phe171Leu					SMARCA1_uc004eup.3_Missense_Mutation_p.F171L|SMARCA1_uc011muk.1_Missense_Mutation_p.F171L|SMARCA1_uc011mul.1_Missense_Mutation_p.F171L	p.F171L	NM_003069	NP_003060	P28370	SMCA1_HUMAN			4	626	-			171					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.513T>A	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.505191	0.64410	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.3	0.221	0.15283	.	0.000000	0.64402	D	0.000002	D	0.92551	0.7634	L	0.45581	1.43	0.52099	D	0.999943	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	D	0.88981	0.3408	10	0.36615	T	0.2	-14.4684	9.3456	0.38107	0.7095:0.0:0.2905:0.0	.	150;171;171;171	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	L	171;171;171;150	ENSP00000360162:F171L;ENSP00000360164:F171L;ENSP00000360163:F171L;ENSP00000404275:F150L	ENSP00000360162:F171L	F	-	3	2	SMARCA1	128477568	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	1.425000	0.34859	0.171000	0.19730	0.441000	0.28932	TTT		PASS	0.348	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		13	83	13	83	---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129799638	129799638	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:129799638G>T	ENST00000370927.1	-	7	1101	c.1080C>A	c.(1078-1080)agC>agA	p.S360R	ENOX2_ENST00000338144.3_Missense_Mutation_p.S360R|ENOX2_ENST00000370935.1_Missense_Mutation_p.S331R|ENOX2_ENST00000394363.1_Missense_Mutation_p.S331R			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	360					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.S360R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TGCACCACACGCTGATGTTCT	0.483																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1078-1080)AGC>AGA		ecto-NOX disulfide-thiol exchanger 2 isoform b							106.0	68.0	81.0					X																	129799638		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129799638G>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1080C>A	X.37:g.129799638G>T	ENSP00000359965:p.Ser360Arg					ENOX2_uc004evx.2_Missense_Mutation_p.S331R|ENOX2_uc004evy.2_Missense_Mutation_p.S331R|ENOX2_uc004evv.2_Missense_Mutation_p.S187R	p.S360R	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			10	1498	-			360					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1080C>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595306	0.66219	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.28454	1.61;1.61	5.44	-3.61	0.04556	.	0.196249	0.56097	D	0.000040	T	0.18467	0.0443	N	0.14661	0.345	0.28606	N	0.908904	P;P	0.42620	0.785;0.785	P;P	0.45276	0.475;0.475	T	0.23048	-1.0199	9	.	.	.	-12.5804	13.1149	0.59295	0.6592:0.0:0.3408:0.0	.	360;388	Q16206;A4QPE1	ENOX2_HUMAN;.	R	331;331;360;331;388;360;331	ENSP00000337146:S360R;ENSP00000359965:S360R	.	S	-	3	2	ENOX2	129627319	1.000000	0.71417	0.930000	0.37139	0.993000	0.82548	0.988000	0.29616	-0.890000	0.03945	0.594000	0.82650	AGC		PASS	0.483	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		5	33	5	33	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130217853	130217853	+	Silent	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:130217853G>T	ENST00000276211.5	+	4	810	c.465G>T	c.(463-465)gtG>gtT	p.V155V	ARHGAP36_ENST00000370921.1_Silent_p.V19V|ARHGAP36_ENST00000370922.1_Silent_p.V143V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	155	Arg-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.V155V(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAAACGTGGTGCGAAGGGTGT	0.612																																						uc004evz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(463-465)GTG>GTT		hypothetical protein LOC158763 precursor							80.0	76.0	77.0					X																	130217853		2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217853G>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.465G>T	X.37:g.130217853G>T						ARHGAP36_uc004ewa.2_Silent_p.V143V|ARHGAP36_uc004ewb.2_Silent_p.V124V|ARHGAP36_uc004ewc.2_Silent_p.V19V	p.V155V	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			4	810	+			155			Arg-rich.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.465G>T	CCDS14628.1																																																																																				PASS	0.612	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		26	97	26	97	---	---	---	---
MIR513C	100302114	broad.mit.edu	37	X	146271247	146271247	+	RNA	SNP	G	G	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:146271247G>T	ENST00000401352.1	-	0	58					NR_031709.1				microRNA 513c																		ttctcagaaaggtgaaattta	0.463																																						hsa-mir-513c|MI0006649																			0					0															126.0	104.0	111.0					X																	146271247		1568	3581	5149			100302114							g.chrX:146271247G>T			Xq27.3	2011-09-12		2008-12-18	ENSG00000216171	ENSG00000216171		"""ncRNAs / Micro RNAs"""	33934	non-coding RNA	RNA, micro				MIRN513C			Standard	NR_031709		Approved	hsa-mir-513c					X.37:g.146271247G>T																-									RNA	SNP	ENST00000401352.1	37	c.59G>T																																																																																					PASS	0.463	MIR513C-201	KNOWN	basic	miRNA	miRNA		NR_031709		6	68	6	68	---	---	---	---
MAGEA1	4100	broad.mit.edu	37	X	152482623	152482623	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:152482623C>T	ENST00000356661.5	-	3	606	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	130	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)	p.E130K(1)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGACACTCTCCAGCATTTCT	0.473																																						uc004fhf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10						c.(388-390)GAG>AAG		melanoma antigen family A, 1							143.0	142.0	142.0					X																	152482623		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482623C>T		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.388G>A	X.37:g.152482623C>T	ENSP00000349085:p.Glu130Lys						p.E130K	NM_004988	NP_004979	P43355	MAGA1_HUMAN			3	608	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		130			MAGE.		B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.388G>A	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534574	0.04082	.	.	ENSG00000198681	ENST00000356661	T	0.03982	3.74	1.28	-1.98	0.07480	.	2.858150	0.01039	N	0.004269	T	0.06645	0.0170	N	0.25890	0.77	0.09310	N	1	P	0.45569	0.861	P	0.55055	0.767	T	0.46871	-0.9160	10	0.02654	T	1	.	5.1846	0.15178	0.0:0.6263:0.0:0.3737	.	130	P43355	MAGA1_HUMAN	K	130	ENSP00000349085:E130K	ENSP00000349085:E130K	E	-	1	0	MAGEA1	152135817	0.077000	0.21312	0.001000	0.08648	0.034000	0.12701	0.196000	0.17176	-0.760000	0.04677	0.190000	0.17370	GAG		PASS	0.473	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		31	207	31	207	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153582286	153582286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:153582286C>A	ENST00000369850.3	-	35	5919	c.5683G>T	c.(5683-5685)Gag>Tag	p.E1895*	FLNA_ENST00000344736.4_Nonsense_Mutation_p.E1855*|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Nonsense_Mutation_p.E1887*|FLNA_ENST00000422373.1_Nonsense_Mutation_p.E1887*|FLNA_ENST00000369856.3_Nonsense_Mutation_p.E86*	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1895					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.E1895*(1)		breast(6)	6	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)					TGCTCACCCTCTCCTGCATCC	0.587											OREG0003596	type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fkk.2																			1	Substitution - Nonsense(1)		lung(1)	breast(6)	6						c.(5683-5685)GAG>TAG		filamin A, alpha isoform 2							112.0	111.0	111.0					X																	153582286		2130	4215	6345	SO:0001587	stop_gained	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153582286C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5683G>T	X.37:g.153582286C>A	ENSP00000358866:p.Glu1895*		OREG0003596	type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_uc004fki.2_5'UTR|FLNA_uc011mzn.1_Nonsense_Mutation_p.E86*|FLNA_uc010nuu.1_Nonsense_Mutation_p.E1887*	p.E1895*	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			35	5932	-	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)		1895			Filamin 17.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Nonsense_Mutation	SNP	ENST00000369850.3	37	c.5683G>T	CCDS48194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.372599|4.372599	0.82573|0.82573	.|.	.|.	ENSG00000196924|ENSG00000196924	ENST00000438732|ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.74015|.	0.3661|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76361|.	-0.2987|.	4|.	.|0.48119	.|T	.|0.1	.|.	16.7137|16.7137	0.85392|0.85392	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	177|1887;1868;1887;1895;86;1855	.|.	.|ENSP00000358863:E1855X	E|E	-|-	3|1	2|0	FLNA|FLNA	153235480|153235480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.686000|0.686000	0.39977|0.39977	5.752000|5.752000	0.68728|0.68728	2.321000|2.321000	0.78463|0.78463	0.436000|0.436000	0.28706|0.28706	GAG|GAG		PASS	0.587	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			8	88	8	88	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153695768	153695768	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:153695768C>T	ENST00000369682.3	+	19	3570	c.3395C>T	c.(3394-3396)cCc>cTc	p.P1132L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1132	IPT/TIG 4.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.P1132L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CCGCTGGGGCCCTCTGGCGTG	0.662																																						uc004flm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(3394-3396)CCC>CTC		plexin A3 precursor							23.0	20.0	21.0					X																	153695768		2200	4292	6492	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153695768C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3395C>T	X.37:g.153695768C>T	ENSP00000358696:p.Pro1132Leu						p.P1132L	NM_017514	NP_059984	P51805	PLXA3_HUMAN			19	3568	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		1132			IPT/TIG 4.|Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3395C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422620	0.62733	.	.	ENSG00000130827	ENST00000369682	D	0.89196	-2.48	5.37	5.37	0.77165	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.240237	0.43110	D	0.000601	D	0.90463	0.7013	M	0.70595	2.14	0.52099	D	0.999942	B	0.24132	0.098	B	0.35688	0.208	D	0.88960	0.3393	10	0.62326	D	0.03	.	17.0815	0.86600	0.0:1.0:0.0:0.0	.	1132	P51805	PLXA3_HUMAN	L	1132	ENSP00000358696:P1132L	ENSP00000358696:P1132L	P	+	2	0	PLXNA3	153348962	0.809000	0.29036	1.000000	0.80357	0.930000	0.56654	1.738000	0.38207	2.385000	0.81259	0.529000	0.55759	CCC		PASS	0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		17	30	17	30	---	---	---	---
VBP1	7411	broad.mit.edu	37	X	154448554	154448554	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:154448554T>C	ENST00000286428.5	+	2	305	c.188T>C	c.(187-189)aTg>aCg	p.M63T	VBP1_ENST00000535916.1_Missense_Mutation_p.M58T	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	63					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)		p.M63T(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATAAGTTTATGGAACTCAAC	0.308																																						uc004fnc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)ATG>ACG		von Hippel-Lindau binding protein 1							35.0	34.0	34.0					X																	154448554		2203	4296	6499	SO:0001583	missense	7411				'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	g.chrX:154448554T>C	U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.188T>C	X.37:g.154448554T>C	ENSP00000286428:p.Met63Thr					VBP1_uc004fnd.2_Missense_Mutation_p.M26T	p.M63T	NM_003372	NP_003363	P61758	PFD3_HUMAN			2	247	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		63					B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Missense_Mutation	SNP	ENST00000286428.5	37	c.188T>C	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611929	0.66558	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	T;T	0.77098	-1.07;-1.07	4.74	4.74	0.60224	Prefoldin (1);Prefoldin subunit (1);	0.073969	0.85682	D	0.000000	T	0.82089	0.4961	M	0.87381	2.88	0.80722	D	1	P	0.35493	0.505	B	0.40659	0.336	D	0.84613	0.0679	10	0.87932	D	0	-12.3056	11.5787	0.50879	0.0:0.0:0.0:1.0	.	63	P61758	PFD3_HUMAN	T	58;63	ENSP00000438694:M58T;ENSP00000286428:M63T	ENSP00000286428:M63T	M	+	2	0	VBP1	154101748	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.661000	0.83786	1.811000	0.52892	0.486000	0.48141	ATG		PASS	0.308	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1			18	47	18	47	---	---	---	---
TMLHE	55217	broad.mit.edu	37	X	154741382	154741382	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chrX:154741382A>T	ENST00000334398.3	-	5	855	c.710T>A	c.(709-711)cTa>cAa	p.L237Q	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.L237Q	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	237					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)	p.L237Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATCCAGAGCTAGCTTGGTGTA	0.418																																						uc004fnn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(709-711)CTA>CAA		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						192.0	154.0	167.0					X																	154741382		2203	4300	6503	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154741382A>T	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.710T>A	X.37:g.154741382A>T	ENSP00000335261:p.Leu237Gln					TMLHE_uc004fno.2_Missense_Mutation_p.L237Q|TMLHE_uc004fnp.3_Missense_Mutation_p.L237Q	p.L237Q	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN			5	876	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		237					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.710T>A	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.003131	0.54254	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.82081	-1.57;-1.57	3.32	3.32	0.38043	.	0.484707	0.19958	N	0.102261	D	0.84741	0.5539	L	0.52364	1.645	0.53688	D	0.999971	D;D;D	0.67145	0.996;0.996;0.994	P;D;D	0.68621	0.906;0.959;0.944	T	0.79822	-0.1641	10	0.12430	T	0.62	-0.1537	9.3356	0.38049	1.0:0.0:0.0:0.0	.	237;237;237	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	Q	237	ENSP00000335261:L237Q;ENSP00000358447:L237Q	ENSP00000335261:L237Q	L	-	2	0	TMLHE	154394576	1.000000	0.71417	0.991000	0.47740	0.702000	0.40608	5.067000	0.64357	1.140000	0.42260	0.412000	0.27726	CTA		PASS	0.418	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		34	138	34	138	---	---	---	---
CTC-338M12.4	101928649	broad.mit.edu	37	5	180699087	180699087	+	RNA	DEL	A	A	-	rs199570993		TCGA-43-6647-01A-11D-1817-08	TCGA-43-6647-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90b97948-26f7-4431-be89-af8c432baae0	5a5e1d10-f089-48cb-9e33-15d8e46585d1	g.chr5:180699087delA	ENST00000511331.1	+	0	919				TRIM52-AS1_ENST00000507434.1_RNA																							TTTCCATCAGAAAAAAAAAAA	0.408																																						uc003mnq.2																			0													Homo sapiens cDNA clone IMAGE:3910094, partial cds.																																						0							g.chr5:180699087delA																													5.37:g.180699087delA														3		+									RNA	DEL	ENST00000511331.1	37	c.451delA																																																																																						0.408	CTC-338M12.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000371318.1			4	2	4	2	---	---	---	---
