#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
CCDC27	148870	broad.mit.edu	37	1	3670758	3670758	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:3670758C>A	ENST00000294600.2	+	2	479	c.395C>A	c.(394-396)cCt>cAt	p.P132H		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	132								p.P132H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCCACGCATCCTGACTGCCCC	0.602																																						uc001akv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(394-396)CCT>CAT		coiled-coil domain containing 27							138.0	134.0	135.0					1																	3670758		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3670758C>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.395C>A	1.37:g.3670758C>A	ENSP00000294600:p.Pro132His						p.P132H	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	2	476	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	132					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.395C>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	C	7.447	0.641906	0.14451	.	.	ENSG00000162592	ENST00000294600	T	0.26518	1.73	3.48	3.48	0.39840	.	0.000000	0.40222	N	0.001160	T	0.36580	0.0972	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03887	-1.0995	10	0.87932	D	0	-22.2032	10.76	0.46259	0.0:1.0:0.0:0.0	.	132	Q2M243	CCD27_HUMAN	H	132	ENSP00000294600:P132H	ENSP00000294600:P132H	P	+	2	0	CCDC27	3660618	0.236000	0.23804	0.018000	0.16275	0.007000	0.05969	3.228000	0.51270	2.253000	0.74438	0.609000	0.83330	CCT		PASS	0.602	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		93	94	93	94	---	---	---	---
PIK3CD	5293	broad.mit.edu	37	1	9782144	9782144	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:9782144G>A	ENST00000377346.4	+	17	2362	c.2167G>A	c.(2167-2169)Gcc>Acc	p.A723T	PIK3CD_ENST00000536656.1_Missense_Mutation_p.A747T|PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A747T	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	723					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.A723T(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCGGCAGGAGGCCTACCTAGA	0.622											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001aqb.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(2167-2169)GCC>ACC		catalytic phosphatidylinositol 3-kinase delta							59.0	63.0	61.0					1																	9782144		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9782144G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2167G>A	1.37:g.9782144G>A	ENSP00000366563:p.Ala723Thr		OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	659	PIK3CD_uc010oaf.1_Missense_Mutation_p.A722T|PIK3CD_uc001aqe.3_Missense_Mutation_p.A747T	p.A723T	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	17	2375	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	723					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.2167G>A	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	7.230	0.599052	0.13939	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.80994	-1.44;-1.44;-1.44	5.4	-1.39	0.08997	Protein kinase-like domain (1);	0.447919	0.25148	N	0.032763	T	0.52403	0.1732	N	0.02802	-0.49	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.24799	-1.0150	10	0.12103	T	0.63	-11.2652	11.1385	0.48390	0.461:0.0:0.539:0.0	.	722;747;723	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	T	747;723;747;747	ENSP00000446444:A747T;ENSP00000366563:A723T;ENSP00000354410:A747T	ENSP00000353766:A747T	A	+	1	0	PIK3CD	9704731	1.000000	0.71417	0.706000	0.30403	0.975000	0.68041	1.292000	0.33342	-0.564000	0.06070	0.561000	0.74099	GCC		PASS	0.622	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		8	40	8	40	---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11562836	11562836	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:11562836C>A	ENST00000294484.6	+	3	1336	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.L400M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	400					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.L617M(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGTGAGATCCTGTTTGGAGC	0.562																																						uc001ash.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(1198-1200)CTG>ATG		patched domain containing 2							86.0	86.0	86.0					1																	11562836		1979	4171	6150	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562836C>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1198C>A	1.37:g.11562836C>A	ENSP00000294484:p.Leu400Met					PTCHD2_uc001asi.1_Missense_Mutation_p.L400M	p.L400M	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	3	1336	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	400			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1198C>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139532	0.77775	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90324	-2.65;-2.65	6.08	6.08	0.98989	.	0.136035	0.48767	D	0.000162	D	0.89424	0.6711	N	0.14661	0.345	0.48901	D	0.999724	D	0.71674	0.998	D	0.65773	0.938	D	0.88122	0.2832	10	0.35671	T	0.21	-23.3485	12.5314	0.56117	0.0:0.924:0.0:0.076	.	400	Q9P2K9	PTHD2_HUMAN	M	400	ENSP00000294484:L400M;ENSP00000374226:L400M	ENSP00000294484:L400M	L	+	1	2	PTCHD2	11485423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.761000	0.68801	2.894000	0.99253	0.655000	0.94253	CTG		PASS	0.562	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		47	38	47	38	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27106599	27106599	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:27106599G>T	ENST00000324856.7	+	20	6581	c.6210G>T	c.(6208-6210)caG>caT	p.Q2070H	ARID1A_ENST00000540690.1_Missense_Mutation_p.Q398H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1687H|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q1853H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2070					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q2070H(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCGGGGCAGTTGGACCTAT	0.572			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6208-6210)CAG>CAT		AT rich interactive domain 1A isoform a							118.0	118.0	118.0					1																	27106599		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106599G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6210G>T	1.37:g.27106599G>T	ENSP00000320485:p.Gln2070His					ARID1A_uc001bmu.1_Missense_Mutation_p.Q1853H|ARID1A_uc001bmx.1_Missense_Mutation_p.Q916H|ARID1A_uc009vsm.1_Missense_Mutation_p.Q398H|ARID1A_uc009vsn.1_Missense_Mutation_p.Q312H	p.Q2070H	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6583	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2070					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6210G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.743743|2.743743	0.49151|0.49151	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37|.	5.1|5.1	2.2|2.2	0.27929|0.27929	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60869|0.60869	0.2302|0.2302	L|L	0.58101|0.58101	1.795|1.795	0.42433|0.42433	D|D	0.992683|0.992683	D;D;D|.	0.76494|.	0.998;0.999;0.999|.	D;D;D|.	0.87578|.	0.933;0.998;0.997|.	T|T	0.58493|0.58493	-0.7627|-0.7627	10|5	0.31617|.	T|.	0.26|.	-6.1957|-6.1957	10.6411|10.6411	0.45594|0.45594	0.2176:0.0:0.7824:0.0|0.2176:0.0:0.7824:0.0	.|.	1687;2070;1853|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	H|F	2070;1853;1687;398|967	ENSP00000320485:Q2070H;ENSP00000387636:Q1853H;ENSP00000363267:Q1687H;ENSP00000442437:Q398H|.	ENSP00000320485:Q2070H|.	Q|V	+|+	3|1	2|0	ARID1A|ARID1A	26979186|26979186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.579000|2.579000	0.46059|0.46059	0.833000|0.833000	0.34828|0.34828	0.591000|0.591000	0.81541|0.81541	CAG|GTT		PASS	0.572	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		57	52	57	52	---	---	---	---
EFCAB14	9813	broad.mit.edu	37	1	47150268	47150268	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:47150268C>G	ENST00000371933.3	-	9	2057	c.1081G>C	c.(1081-1083)Gat>Cat	p.D361H	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Missense_Mutation_p.D297H|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000484461.1_5'UTR	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	361							calcium ion binding (GO:0005509)	p.D361H(1)									TTTGAACTATCTTCTTTCTGC	0.428																																						uc001cqk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)GAT>CAT		hypothetical protein LOC9813							89.0	88.0	88.0					1																	47150268		2203	4300	6503	SO:0001583	missense	9813						calcium ion binding	g.chr1:47150268C>G	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1081G>C	1.37:g.47150268C>G	ENSP00000361001:p.Asp361His					KIAA0494_uc010omh.1_Missense_Mutation_p.D297H|KIAA0494_uc010omj.1_Missense_Mutation_p.D153H|KIAA0494_uc001cql.1_Missense_Mutation_p.D361H	p.D361H	NM_014774	NP_055589	O75071	K0494_HUMAN			9	2058	-	Acute lymphoblastic leukemia(166;0.155)		361					D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.1081G>C	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799347	0.70567	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.24723	2.26;1.84	5.43	4.52	0.55395	.	0.542310	0.20635	N	0.088502	T	0.40145	0.1105	L	0.47716	1.5	0.38578	D	0.950109	D;D;D;D	0.71674	0.998;0.997;0.998;0.998	D;P;P;D	0.63192	0.912;0.874;0.874;0.911	T	0.34976	-0.9807	10	0.54805	T	0.06	-7.5322	12.3631	0.55215	0.0:0.9232:0.0:0.0768	.	153;297;297;361	B7Z3D1;F5H7K3;B7Z444;O75071	.;.;.;K0494_HUMAN	H	297;361	ENSP00000442465:D297H;ENSP00000361001:D361H	ENSP00000361001:D361H	D	-	1	0	KIAA0494	46922855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.761000	0.62243	1.533000	0.49186	0.650000	0.86243	GAT		PASS	0.428	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		3	86	3	86	---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76397808	76397808	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:76397808A>G	ENST00000284142.6	-	1	308	c.169T>C	c.(169-171)Tat>Cat	p.Y57H		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	57					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.Y57H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AAGTCCACATACCTCAGAATT	0.398																																						uc001dhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)TAT>CAT		ankyrin repeat and SOCS box-containing 17							150.0	139.0	143.0					1																	76397808		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397808A>G	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.169T>C	1.37:g.76397808A>G	ENSP00000284142:p.Tyr57His					ASB17_uc001dhf.1_RNA	p.Y57H	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			1	309	-			57					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.169T>C	CCDS671.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.267951	0.23136	.	.	ENSG00000154007	ENST00000284142	T	0.35973	1.28	6.08	2.51	0.30379	.	0.122291	0.37095	N	0.002243	T	0.08403	0.0209	L	0.27053	0.805	0.28480	N	0.914997	B	0.12630	0.006	B	0.10450	0.005	T	0.25293	-1.0136	10	0.48119	T	0.1	.	4.3861	0.11318	0.6992:0.0:0.1564:0.1444	.	57	Q8WXJ9	ASB17_HUMAN	H	57	ENSP00000284142:Y57H	ENSP00000284142:Y57H	Y	-	1	0	ASB17	76170396	0.942000	0.31987	0.521000	0.27850	0.040000	0.13550	1.146000	0.31589	0.172000	0.19760	-0.274000	0.10170	TAT		PASS	0.398	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		50	36	50	36	---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85331494	85331494	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:85331494G>A	ENST00000440886.1	-	1	348	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.L104F			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	104					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.L104F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CCCTGACGGAGAAACCAGCGG	0.493																																						uc001dkl.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(310-312)CTC>TTC		lysophosphatidic acid receptor 3							157.0	165.0	162.0					1																	85331494		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331494G>A	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.310C>T	1.37:g.85331494G>A	ENSP00000395389:p.Leu104Phe					LPAR3_uc009wcj.1_Missense_Mutation_p.L104F	p.L104F	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	349	-			104			Helical; Name=3; (Potential).		A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.310C>T	CCDS700.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239433	0.39598	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.39056	1.1;1.1	5.65	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.176242	0.50627	D	0.000109	T	0.18341	0.0440	N	0.25060	0.705	0.41812	D	0.989975	B	0.26512	0.151	B	0.27170	0.077	T	0.03662	-1.1015	10	0.35671	T	0.21	.	14.9777	0.71286	0.0695:0.0:0.9305:0.0	.	104	Q9UBY5	LPAR3_HUMAN	F	104	ENSP00000395389:L104F;ENSP00000359643:L104F	ENSP00000359643:L104F	L	-	1	0	LPAR3	85104082	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.712000	0.25779	2.674000	0.91012	0.655000	0.94253	CTC		PASS	0.493	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		110	85	110	85	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	93163484	93163484	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:93163484C>A	ENST00000370331.1	-	6	839	c.830G>T	c.(829-831)cGt>cTt	p.R277L	EVI5_ENST00000540033.1_Missense_Mutation_p.R277L|EVI5_ENST00000543509.1_Missense_Mutation_p.R277L|RNU4-59P_ENST00000364447.1_RNA	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	277	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.R277L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAAAGTTCACGAAGTCTATA	0.328																																						uc001dox.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(829-831)CGT>CTT		ecotropic viral integration site 5							101.0	100.0	101.0					1																	93163484		2201	4297	6498	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93163484C>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.830G>T	1.37:g.93163484C>A	ENSP00000359356:p.Arg277Leu					EVI5_uc010otf.1_Missense_Mutation_p.R277L	p.R277L	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	6	840	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	277			Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.830G>T	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186193	0.94885	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.12147	2.71;2.71;2.71	5.45	5.45	0.79879	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.52419	-0.8578	10	0.87932	D	0	-9.4134	19.2739	0.94023	0.0:1.0:0.0:0.0	.	277;277	F5H4R0;O60447	.;EVI5_HUMAN	L	277	ENSP00000359356:R277L;ENSP00000440826:R277L;ENSP00000445019:R277L	ENSP00000359356:R277L	R	-	2	0	EVI5	92936072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.807000	0.86032	2.552000	0.86080	0.655000	0.94253	CGT		PASS	0.328	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		76	58	76	58	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154067592	154067592	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:154067592G>T	ENST00000368559.3	-	15	2077	c.2006C>A	c.(2005-2007)tCt>tAt	p.S669Y	NUP210L_ENST00000271854.3_Missense_Mutation_p.S669Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	669					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.S669Y(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTCCTTCACAGACTGCCATGT	0.403																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2005-2007)TCT>TAT		nucleoporin 210kDa-like isoform 1							80.0	76.0	78.0					1																	154067592		1846	4085	5931	SO:0001583	missense	91181					integral to membrane		g.chr1:154067592G>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2006C>A	1.37:g.154067592G>T	ENSP00000357547:p.Ser669Tyr					NUP210L_uc009woq.2_Translation_Start_Site|NUP210L_uc010peh.1_Missense_Mutation_p.S669Y	p.S669Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2078	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		669					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2006C>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004908	0.74932	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.25085	1.82;1.82	5.63	5.63	0.86233	.	0.336818	0.25938	N	0.027328	T	0.41834	0.1176	M	0.70595	2.14	0.47659	D	0.999484	D;D	0.71674	0.998;0.996	D;P	0.63488	0.915;0.853	T	0.23655	-1.0182	10	0.56958	D	0.05	-7.5577	17.4736	0.87653	0.0:0.0:1.0:0.0	.	669;669	E7EP56;Q5VU65	.;P210L_HUMAN	Y	669	ENSP00000357547:S669Y;ENSP00000271854:S669Y	ENSP00000271854:S669Y	S	-	2	0	NUP210L	152334216	0.997000	0.39634	0.987000	0.45799	0.940000	0.58332	5.870000	0.69620	2.657000	0.90304	0.555000	0.69702	TCT		PASS	0.403	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		18	83	18	83	---	---	---	---
HDGF	3068	broad.mit.edu	37	1	156713634	156713634	+	Missense_Mutation	SNP	C	C	T	rs200554626		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:156713634C>T	ENST00000357325.5	-	5	840	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	HDGF_ENST00000368206.5_Missense_Mutation_p.E192K|MRPL24_ENST00000368211.4_5'Flank|MRPL24_ENST00000361531.2_5'Flank|HDGF_ENST00000368209.5_Missense_Mutation_p.E169K|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000537739.1_Missense_Mutation_p.E176K|HDGF_ENST00000416666.2_Missense_Mutation_p.E144K	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	176	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)	p.E176K(1)|p.E192K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TCCTCTCCTTCAGGGTTTTCT	0.612																																						uc001fpy.3																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(526-528)GAA>AAA		hepatoma-derived growth factor isoform a							49.0	48.0	48.0					1																	156713634		2203	4300	6503	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156713634C>T	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.526G>A	1.37:g.156713634C>T	ENSP00000349878:p.Glu176Lys					MRPL24_uc001fpw.1_5'Flank|MRPL24_uc001fpx.1_5'Flank|HDGF_uc009wsd.2_Missense_Mutation_p.E144K|HDGF_uc001fpz.3_Missense_Mutation_p.E169K|HDGF_uc009wse.2_Missense_Mutation_p.E192K|HDGF_uc010phr.1_Missense_Mutation_p.E199K|HDGF_uc009wsf.2_Missense_Mutation_p.E144K|HDGF_uc009wsg.2_Missense_Mutation_p.E176K	p.E176K	NM_004494	NP_004485	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	5	848	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	176			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.526G>A	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389630	0.61956	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.34667	1.86;1.38;1.86;1.41;1.35	4.48	4.48	0.54585	.	0.087399	0.46145	U	0.000302	T	0.34483	0.0899	L	0.48642	1.525	0.30012	N	0.815079	D;B;D;D;D	0.63880	0.993;0.3;0.993;0.993;0.993	D;B;D;D;D	0.68192	0.956;0.098;0.956;0.956;0.956	T	0.06197	-1.0840	10	0.20519	T	0.43	-8.93	12.5572	0.56261	0.0:1.0:0.0:0.0	.	151;176;192;169;176	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	K	176;169;176;144;192;199	ENSP00000349878:E176K;ENSP00000357192:E169K;ENSP00000443120:E176K;ENSP00000416752:E144K;ENSP00000357189:E192K	ENSP00000349878:E176K	E	-	1	0	HDGF	154980258	0.998000	0.40836	0.707000	0.30419	0.933000	0.57130	4.950000	0.63603	2.314000	0.78098	0.449000	0.29647	GAA		PASS	0.612	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		6	97	6	97	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158450081	158450081	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:158450081G>T	ENST00000368152.1	+	1	414	c.414G>T	c.(412-414)atG>atT	p.M138I	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M138I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGGGTGTGATGGGTTATGATC	0.483																																						uc010pik.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(412-414)ATG>ATT		olfactory receptor, family 10, subfamily R,							353.0	302.0	319.0					1																	158450081		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450081G>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.414G>T	1.37:g.158450081G>T	ENSP00000357134:p.Met138Ile					uc001fso.1_RNA	p.M138I	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	414	+	all_hematologic(112;0.0378)		138			Helical; Name=3; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.414G>T	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.517502	0.64634	.	.	ENSG00000198965	ENST00000368152	T	0.01126	5.3	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07007	0.0178	H	0.95365	3.66	0.41129	D	0.98587	D	0.71674	0.998	D	0.66847	0.947	T	0.02232	-1.1191	9	0.87932	D;D	0;0	.	16.0834	0.81020	0.0:0.0:1.0:0.0	.	138	Q8NGX6	O10R2_HUMAN	I	138	ENSP00000357134:M138I	ENSP00000357134:M138I;ENSP00000357134:M138I	M	+	3	0	OR10R2	156716705	1.000000	0.71417	0.996000	0.52242	0.388000	0.30384	6.971000	0.76105	2.278000	0.76064	0.655000	0.94253	ATG		PASS	0.483	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		74	495	74	495	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176679237	176679237	+	Silent	SNP	T	T	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:176679237T>G	ENST00000367662.3	+	11	4740	c.3576T>G	c.(3574-3576)gcT>gcG	p.A1192A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1192					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.A1192A(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						ATCAATGGGCTACCCGGGCTT	0.443																																						uc001gkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3574-3576)GCT>GCG		pappalysin 2 isoform 1							123.0	121.0	121.0					1																	176679237		1896	4124	6020	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176679237T>G	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.3576T>G	1.37:g.176679237T>G						PAPPA2_uc009www.2_RNA	p.A1192A	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			11	4740	+			1192					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.3576T>G	CCDS41438.1																																																																																				PASS	0.443	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			96	61	96	61	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178427316	178427316	+	Silent	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:178427316G>A	ENST00000462775.1	+	12	2591	c.2466G>A	c.(2464-2466)aaG>aaA	p.K822K	RASAL2_ENST00000367649.3_Silent_p.K963K|RASAL2_ENST00000448150.3_Silent_p.K952K	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	822					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.K952K(1)|p.K822K(1)|p.K963K(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAGACTTCAAGCTCAGTGGAC	0.483																																						uc001glr.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(2464-2466)AAG>AAA		RAS protein activator like 2 isoform 1							78.0	77.0	77.0					1																	178427316		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427316G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2466G>A	1.37:g.178427316G>A						RASAL2_uc001glq.2_Silent_p.K963K|RASAL2_uc009wxc.2_Silent_p.K336K	p.K822K	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			12	2591	+			822					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2466G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	4.416	0.076834	0.08485	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.46	-0.797	0.10909	.	.	.	.	.	T	0.53465	0.1798	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42999	-0.9418	4	.	.	.	.	7.6253	0.28208	0.36:0.0:0.5103:0.1297	.	.	.	.	T	373	.	.	A	+	1	0	RASAL2	176693939	0.949000	0.32298	0.991000	0.47740	0.900000	0.52787	0.195000	0.17155	-0.419000	0.07439	-0.229000	0.12294	GCT		PASS	0.483	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		80	76	80	76	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201047035	201047035	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:201047035G>A	ENST00000362061.3	-	11	1817	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R531C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	531					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R531C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCAGGAGGCGGATGCAGCGG	0.647																																						uc001gvv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1591-1593)CGC>TGC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						53.0	44.0	47.0					1																	201047035		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047035G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1591C>T	1.37:g.201047035G>A	ENSP00000355192:p.Arg531Cys						p.R531C	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			11	1818	-			531			II.|Helical; Name=S4 of repeat II; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1591C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442153	0.83993	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98835	-5.17;-5.17	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	H	0.99668	4.69	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.97271	0.9911	10	0.87932	D	0	.	17.9007	0.88902	0.0:0.0:1.0:0.0	.	531	Q13698	CAC1S_HUMAN	C	531	ENSP00000355192:R531C;ENSP00000356307:R531C	ENSP00000355192:R531C	R	-	1	0	CACNA1S	199313658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.963000	0.87922	2.296000	0.77279	0.637000	0.83480	CGC		PASS	0.647	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		4	68	4	68	---	---	---	---
FAIM3	9214	broad.mit.edu	37	1	207087143	207087143	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:207087143G>T	ENST00000367091.3	-	2	477	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Silent_p.R112R	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	112					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R112R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GTCTTTCCCCGGTCTGTGTTC	0.517																																						uc001hey.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(334-336)CGG>AGG		Fas apoptotic inhibitory molecule 3 isoform a							107.0	107.0	107.0					1																	207087143		2203	4300	6503	SO:0001819	synonymous_variant	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087143G>T	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.334C>A	1.37:g.207087143G>T						FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Intron|FAIM3_uc010psb.1_Silent_p.R112R	p.R112R	NM_005449	NP_005440	O60667	FAIM3_HUMAN			2	513	-	Breast(84;0.201)		112			Extracellular (Potential).		A8K7J2|B7Z6Z0|D9MWM3	Silent	SNP	ENST00000367091.3	37	c.334C>A	CCDS1473.1																																																																																				PASS	0.517	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		73	89	73	89	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237532900	237532900	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:237532900A>G	ENST00000366574.2	+	6	693	c.376A>G	c.(376-378)Agt>Ggt	p.S126G	RYR2_ENST00000542537.1_Missense_Mutation_p.S110G|RYR2_ENST00000360064.6_Missense_Mutation_p.S124G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	126	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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.S124G(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)			CCATTCCTATAGTGGCATGGT	0.463																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(376-378)AGT>GGT		cardiac muscle ryanodine receptor							139.0	116.0	123.0					1																	237532900		1977	4158	6135	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.chr1:237532900A>G	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.376A>G	1.37:g.237532900A>G	ENSP00000355533:p.Ser126Gly						p.S126G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		6	496	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	126			Cytoplasmic (By similarity).|MIR 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.376A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739504	0.89573	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92805	-3.11;-3.11;-3.11	5.51	5.51	0.81932	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.87456	2.885	0.80722	D	1	D	0.58620	0.983	P	0.54499	0.754	D	0.95901	0.8915	10	0.87932	D	0	.	14.8852	0.70564	1.0:0.0:0.0:0.0	.	126	Q92736	RYR2_HUMAN	G	126;124;110	ENSP00000355533:S126G;ENSP00000353174:S124G;ENSP00000443798:S110G	ENSP00000353174:S124G	S	+	1	0	RYR2	235599523	1.000000	0.71417	0.946000	0.38457	0.825000	0.46686	5.725000	0.68507	2.219000	0.72066	0.533000	0.62120	AGT		PASS	0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	4	5	4	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237936851	237936851	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:237936851C>A	ENST00000366574.2	+	87	11995	c.11678C>A	c.(11677-11679)tCt>tAt	p.S3893Y	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.S3877Y|RYR2_ENST00000360064.6_Missense_Mutation_p.S3899Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3893					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.S3891Y(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)			TGGTATTACTCTGGGAAAGAT	0.333																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11677-11679)TCT>TAT		cardiac muscle ryanodine receptor							108.0	102.0	104.0					1																	237936851		1818	4078	5896	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.chr1:237936851C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11678C>A	1.37:g.237936851C>A	ENSP00000355533:p.Ser3893Tyr					RYR2_uc010pya.1_Missense_Mutation_p.S308Y	p.S3893Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		87	11798	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3893					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11678C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740007	0.89573	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97378	-4.36;-4.33;-4.35	5.13	5.13	0.70059	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000011	D	0.98573	0.9523	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.995	D	0.99368	1.0919	10	0.62326	D	0.03	-10.6406	18.9705	0.92713	0.0:1.0:0.0:0.0	.	867;3893	B4DGV4;Q92736	.;RYR2_HUMAN	Y	3893;3899;3877;867	ENSP00000355533:S3893Y;ENSP00000353174:S3899Y;ENSP00000443798:S3877Y	ENSP00000353174:S3899Y	S	+	2	0	RYR2	236003474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.541000	0.85698	0.643000	0.83706	TCT		PASS	0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	69	18	69	---	---	---	---
MAP1LC3C	440738	broad.mit.edu	37	1	242159552	242159552	+	Silent	SNP	G	G	A	rs147920150	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:242159552G>A	ENST00000357246.3	-	4	421	c.357C>T	c.(355-357)taC>taT	p.Y119Y		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	119					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)		p.Y119Y(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGGGAGGCGTAGGTCATGT	0.562													G|||	23	0.00459265	0.0	0.0	5008	,	,		16852	0.004		0.003	False		,,,				2504	0.0164					uc001hzk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(355-357)TAC>TAT		microtubule-associated protein 1 light chain 3		G		5,4401	9.9+/-24.2	0,5,2198	177.0	155.0	162.0		357	-1.9	0.9	1	dbSNP_134	162	25,8575	17.9+/-57.8	0,25,4275	no	coding-synonymous	MAP1LC3C	NM_001004343.2		0,30,6473	AA,AG,GG		0.2907,0.1135,0.2307		119/148	242159552	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159552G>A	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.357C>T	1.37:g.242159552G>A							p.Y119Y	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	432	-			119					A0PJY8|A2RUP0	Silent	SNP	ENST00000357246.3	37	c.357C>T	CCDS31074.1																																																																																				PASS	0.562	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		6	176	6	176	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343796	248343797	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:248343796_248343797GG>TT	ENST00000359682.2	+	1	509_510	c.509_510GG>TT	c.(508-510)gGG>gTT	p.G170V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G170V(2)|p.G170G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCTTTTGTGGGTCTCGGGAAA	0.421																																						uc010pzf.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(1)	4						c.(508-510)GGG>GTG|c.(508-510)GGG>GGT		olfactory receptor, family 2, subfamily M,																																				SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343796G>T|g.chr1:248343797G>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	Exception_encountered	1.37:g.248343796_248343797delinsTT	ENSP00000352710:p.Gly170Val						p.G170V|p.G170G	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	509|510	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		170			Extracellular (Potential).		A3KFT4	Missense_Mutation|Silent	SNP	ENST00000359682.2	37	c.509G>T|c.510G>T	CCDS31106.1																																																																																				PASS	0.421	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		98|96	314|315	96	314	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915452	48915452	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:48915452G>A	ENST00000294954.7	-	11	1505	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.S433F|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.S468F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	495					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.S495F(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCAATTAGAGAAGAAAAGAG	0.438																																						uc002rwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1483-1485)TCT>TTT		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						124.0	110.0	115.0					2																	48915452		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915452G>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1484C>T	2.37:g.48915452G>A	ENSP00000294954:p.Ser495Phe					GTF2A1L_uc002rwt.2_Intron	p.S495F	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1554	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	495			Helical; Name=4; (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1484C>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.158507	0.00321	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.33654	1.4;1.4;1.4	5.79	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.652243	0.16892	N	0.195294	T	0.09335	0.0230	N	0.00760	-1.21	0.09310	N	1	P	0.34615	0.459	B	0.33042	0.157	T	0.19976	-1.0289	9	.	.	.	.	4.507	0.11893	0.4102:0.1569:0.433:0.0	.	495	P22888	LSHR_HUMAN	F	433;495;468	ENSP00000344301:S433F;ENSP00000294954:S495F;ENSP00000386033:S468F	.	S	-	2	0	LHCGR	48768956	0.018000	0.18449	0.050000	0.19076	0.180000	0.23129	2.204000	0.42761	0.377000	0.24735	-0.150000	0.13652	TCT		PASS	0.438	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		64	64	64	64	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71886131	71886131	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:71886131T>C	ENST00000258104.3	+	43	5039	c.4762T>C	c.(4762-4764)Ttt>Ctt	p.F1588L	DYSF_ENST00000410020.3_Missense_Mutation_p.F1627L|DYSF_ENST00000409582.3_Missense_Mutation_p.F1626L|DYSF_ENST00000409762.1_Missense_Mutation_p.F1605L|DYSF_ENST00000409366.1_Missense_Mutation_p.F1610L|DYSF_ENST00000394120.2_Missense_Mutation_p.F1589L|DYSF_ENST00000409651.1_Missense_Mutation_p.F1620L|DYSF_ENST00000410041.1_Missense_Mutation_p.F1606L|DYSF_ENST00000429174.2_Missense_Mutation_p.F1609L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.F1619L|DYSF_ENST00000409744.1_Missense_Mutation_p.F1596L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1588	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.F1627L(1)|p.F1588L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGTCCGAGCATTTGGCCTGCA	0.592																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4762-4764)TTT>CTT		dysferlin isoform 8							82.0	83.0	83.0					2																	71886131		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71886131T>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4762T>C	2.37:g.71886131T>C	ENSP00000258104:p.Phe1588Leu					DYSF_uc010feg.2_Missense_Mutation_p.F1619L|DYSF_uc010feh.2_Missense_Mutation_p.F1595L|DYSF_uc002sig.3_Missense_Mutation_p.F1574L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.F1609L|DYSF_uc010fef.2_Missense_Mutation_p.F1626L|DYSF_uc010fei.2_Missense_Mutation_p.F1605L|DYSF_uc010fek.2_Missense_Mutation_p.F1606L|DYSF_uc010fej.2_Missense_Mutation_p.F1596L|DYSF_uc010fel.2_Missense_Mutation_p.F1575L|DYSF_uc010feo.2_Missense_Mutation_p.F1620L|DYSF_uc010fem.2_Missense_Mutation_p.F1610L|DYSF_uc010fen.2_Missense_Mutation_p.F1627L|DYSF_uc002sif.2_Missense_Mutation_p.F1589L|DYSF_uc010yqy.1_Missense_Mutation_p.F469L|DYSF_uc010yqz.1_Missense_Mutation_p.F349L	p.F1588L	NM_003494	NP_003485	O75923	DYSF_HUMAN			43	5138	+			1588			Cytoplasmic (Potential).|C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4762T>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	7.275	0.607995	0.14002	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.63	5.63	0.86233	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.398541	0.29106	N	0.013138	T	0.43299	0.1241	N	0.10629	0.01	0.38016	D	0.93468	B;P;P;B;B;B;B;B;B;P;B;B;B;B;B	0.36959	0.001;0.575;0.575;0.321;0.321;0.0;0.0;0.0;0.001;0.575;0.0;0.049;0.202;0.321;0.372	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39771	0.01;0.205;0.205;0.205;0.205;0.003;0.003;0.003;0.003;0.205;0.006;0.022;0.205;0.205;0.309	T	0.49986	-0.8880	10	0.07030	T	0.85	-11.6656	9.1597	0.37014	0.1623:0.0:0.0:0.8377	.	352;1620;1627;1610;1575;1606;1596;1605;1595;1619;1626;1609;1574;1589;1588	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	L	1619;1605;1626;1609;1588;1620;1589;1596;1610;1627;1606	ENSP00000407046:F1619L;ENSP00000387137:F1605L;ENSP00000386547:F1626L;ENSP00000398305:F1609L;ENSP00000258104:F1588L;ENSP00000386683:F1620L;ENSP00000377678:F1589L;ENSP00000386285:F1596L;ENSP00000386512:F1610L;ENSP00000386881:F1627L;ENSP00000386617:F1606L	ENSP00000258104:F1588L	F	+	1	0	DYSF	71739639	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.049000	0.41288	2.141000	0.66446	0.528000	0.53228	TTT		PASS	0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		21	144	21	144	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79313940	79313940	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:79313940C>A	ENST00000305089.3	-	3	261	c.181G>T	c.(181-183)Gat>Tat	p.D61Y		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	61	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.D61Y(2)|p.D61H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCACTCACATCTGCATCAACC	0.507																																						uc002sny.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(181-183)GAT>TAT		regenerating islet-derived 1 beta precursor							140.0	134.0	136.0					2																	79313940		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79313940C>A		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.181G>T	2.37:g.79313940C>A	ENSP00000303206:p.Asp61Tyr					REG1B_uc010ffv.1_Missense_Mutation_p.D61Y|REG1B_uc010ffw.2_Missense_Mutation_p.D61Y	p.D61Y	NM_006507	NP_006498	P48304	REG1B_HUMAN			3	293	-			61			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.181G>T	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.077046	0.76415	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.07800	3.16;3.16	3.74	3.74	0.42951	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.369581	0.19616	N	0.110007	T	0.24624	0.0597	M	0.69463	2.115	0.34030	D	0.653679	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	T	0.27739	-1.0065	10	0.87932	D	0	.	11.2197	0.48846	0.0:1.0:0.0:0.0	.	61;61	Q6ICS1;P48304	.;REG1B_HUMAN	Y	12;61	ENSP00000387410:D12Y;ENSP00000303206:D61Y	ENSP00000303206:D61Y	D	-	1	0	REG1B	79167448	0.003000	0.15002	0.933000	0.37362	0.677000	0.39632	0.215000	0.17562	2.087000	0.62958	0.561000	0.74099	GAT		PASS	0.507	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		48	142	48	142	---	---	---	---
IGKV2-24	28923	broad.mit.edu	37	2	89475835	89475835	+	RNA	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:89475835A>G	ENST00000484817.1	-	0	366									immunoglobulin kappa variable 2-24																		GCTTGCATGCAGTAATAAACC	0.522																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							112.0	119.0	117.0					2																	89475835		1885	4121	6006			0							g.chr2:89475835A>G	X12684		2p11.2	2012-02-08			ENSG00000241294	ENSG00000241294		"""Immunoglobulins / IGK locus"""	5781	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151655		2.37:g.89475835A>G						uc002stl.2_Intron								28		-									RNA	SNP	ENST00000484817.1	37	c.3646T>C																																																																																					PASS	0.522	IGKV2-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323404.1	NG_000834		83	42	83	42	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95539813	95539813	+	Missense_Mutation	SNP	G	G	A	rs201231094		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:95539813G>A	ENST00000295201.4	+	3	810	c.673G>A	c.(673-675)Gag>Aag	p.E225K	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	225					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.E225K(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCAGAGCACCGAGGTGCAGGC	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		14918	0.0		0.001	False		,,,				2504	0.0					uc002stw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(673-675)GAG>AAG		tektin 4							78.0	76.0	76.0					2																	95539813		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539813G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.673G>A	2.37:g.95539813G>A	ENSP00000295201:p.Glu225Lys					uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.E225K	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			3	766	+			225						Missense_Mutation	SNP	ENST00000295201.4	37	c.673G>A	CCDS2005.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	7.719	0.696773	0.15106	.	.	ENSG00000163060	ENST00000295201	T	0.02579	4.24	2.24	-0.765	0.11023	.	0.365653	0.30093	N	0.010426	T	0.02083	0.0065	L	0.40543	1.245	0.80722	D	1	B	0.23128	0.08	B	0.24541	0.054	T	0.50923	-0.8770	10	0.13108	T	0.6	-7.3928	3.9064	0.09183	0.2379:0.2356:0.5265:0.0	.	225	Q8WW24	TEKT4_HUMAN	K	225	ENSP00000295201:E225K	ENSP00000295201:E225K	E	+	1	0	TEKT4	94903540	0.992000	0.36948	0.985000	0.45067	0.177000	0.22998	0.884000	0.28214	0.050000	0.15949	-1.233000	0.01565	GAG		PASS	0.642	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		61	54	61	54	---	---	---	---
ACTR1B	10120	broad.mit.edu	37	2	98275028	98275028	+	Silent	SNP	G	G	C	rs147014229		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:98275028G>C	ENST00000289228.5	-	6	735	c.519C>G	c.(517-519)ggC>ggG	p.G173G		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	173					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.G173G(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GCATGGCAAAGCCCTCATAGA	0.607																																						uc002syb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(517-519)GGC>GGG		ARP1 actin-related protein 1 homolog B,							179.0	157.0	164.0					2																	98275028		2203	4300	6503	SO:0001819	synonymous_variant	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98275028G>C	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.519C>G	2.37:g.98275028G>C							p.G173G	NM_005735	NP_005726	P42025	ACTY_HUMAN			6	727	-			173					D3DVH2|Q53SK5|Q9BRB7	Silent	SNP	ENST00000289228.5	37	c.519C>G	CCDS2033.1																																																																																				PASS	0.607	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		5	212	5	212	---	---	---	---
REV1	51455	broad.mit.edu	37	2	100065857	100065857	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:100065857A>T	ENST00000258428.3	-	4	519	c.291T>A	c.(289-291)aaT>aaA	p.N97K	REV1_ENST00000393445.3_Missense_Mutation_p.N97K|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	97	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.N97K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAATTTTGGCATTGGGAAGAT	0.289								Direct reversal of damage																														uc002tad.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(289-291)AAT>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							106.0	112.0	110.0					2																	100065857		2202	4300	6502	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100065857A>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.291T>A	2.37:g.100065857A>T	ENSP00000258428:p.Asn97Lys					REV1_uc002tac.2_Missense_Mutation_p.N97K|REV1_uc002tae.1_Missense_Mutation_p.N76K	p.N97K	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			4	503	-			97			BRCT.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.291T>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185296	0.57909	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.73047	-0.71;-0.71	6.06	1.04	0.20106	BRCT (4);	0.168010	0.64402	D	0.000006	T	0.66519	0.2797	L	0.54323	1.7	0.49582	D	0.999808	P;B;B	0.52463	0.953;0.076;0.127	P;B;B	0.50791	0.65;0.102;0.139	T	0.60058	-0.7337	10	0.31617	T	0.26	.	5.6597	0.17662	0.693:0.0:0.1915:0.1154	.	76;97;97	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	K	97	ENSP00000377091:N97K;ENSP00000258428:N97K	ENSP00000258428:N97K	N	-	3	2	REV1	99432289	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.677000	0.46892	0.152000	0.19188	0.528000	0.53228	AAT		PASS	0.289	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		150	105	150	105	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100203674	100203674	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:100203674G>C	ENST00000409236.2	-	14	2645	c.2533C>G	c.(2533-2535)Ctg>Gtg	p.L845V	AFF3_ENST00000317233.4_Missense_Mutation_p.L845V|AFF3_ENST00000356421.2_Missense_Mutation_p.L870V|AFF3_ENST00000409579.1_Missense_Mutation_p.L870V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	845					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.L870V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GAGGTGGCCAGTCTTGAAGAG	0.473																																						uc002tag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2533-2535)CTG>GTG		AF4/FMR2 family, member 3 isoform 1							308.0	263.0	278.0					2																	100203674		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100203674G>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2533C>G	2.37:g.100203674G>C	ENSP00000387207:p.Leu845Val					AFF3_uc002taf.2_Missense_Mutation_p.L870V|AFF3_uc010fiq.1_Missense_Mutation_p.L845V|AFF3_uc010yvr.1_Missense_Mutation_p.L998V|AFF3_uc002tah.1_Missense_Mutation_p.L870V	p.L845V	NM_002285	NP_002276	P51826	AFF3_HUMAN			15	2769	-			845					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2533C>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358561	0.24598	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.92	4.1	0.47936	.	0.145946	0.30949	N	0.008544	T	0.67258	0.2874	L	0.45698	1.435	0.09310	N	1	P;P;P	0.52692	0.822;0.955;0.493	P;P;B	0.51615	0.5;0.675;0.143	T	0.57277	-0.7839	10	0.29301	T	0.29	.	6.324	0.21232	0.2843:0.0:0.7157:0.0	.	998;845;870	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	845;870;870;845;845;998	ENSP00000317421:L845V;ENSP00000348793:L870V;ENSP00000386834:L870V;ENSP00000387207:L845V	ENSP00000317421:L845V	L	-	1	2	AFF3	99570106	0.768000	0.28519	0.007000	0.13788	0.886000	0.51366	3.252000	0.51461	1.485000	0.48380	0.655000	0.94253	CTG		PASS	0.473	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		77	315	77	315	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102636197	102636197	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:102636197A>G	ENST00000332549.3	+	5	840	c.611A>G	c.(610-612)tAt>tGt	p.Y204C	IL1R2_ENST00000441002.1_Missense_Mutation_p.Y204C|IL1R2_ENST00000393414.2_Missense_Mutation_p.Y204C	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	204	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.Y204C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GATGCTGGCTATTACCGCTGT	0.458																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(610-612)TAT>TGT		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						122.0	101.0	108.0					2																	102636197		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102636197A>G	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.611A>G	2.37:g.102636197A>G	ENSP00000330959:p.Tyr204Cys					IL1R2_uc002tbn.2_Missense_Mutation_p.Y204C|IL1R2_uc002tbo.1_Missense_Mutation_p.Y204C	p.Y204C	NM_004633	NP_004624	P27930	IL1R2_HUMAN			5	840	+			204			Extracellular (Potential).|Ig-like C2-type 2.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.611A>G	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.362230	0.41902	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	6.03	4.85	0.62838	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.159730	0.44688	D	0.000435	T	0.35740	0.0942	M	0.80183	2.485	0.40636	D	0.981908	D	0.89917	1.0	D	0.74023	0.982	T	0.15694	-1.0428	10	0.56958	D	0.05	.	8.9251	0.35634	0.702:0.0:0.0:0.298	.	204	P27930	IL1R2_HUMAN	C	204	ENSP00000330959:Y204C;ENSP00000377066:Y204C;ENSP00000408415:Y204C;ENSP00000414611:Y204C	ENSP00000330959:Y204C	Y	+	2	0	IL1R2	102002629	0.683000	0.27633	0.976000	0.42696	0.213000	0.24496	0.950000	0.29122	1.058000	0.40530	0.533000	0.62120	TAT		PASS	0.458	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		15	80	15	80	---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114512814	114512814	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:114512814C>T	ENST00000245680.2	-	3	614	c.201G>A	c.(199-201)agG>agA	p.R67R	SLC35F5_ENST00000409342.1_Silent_p.R61R	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	67					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R67R(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GAGCCATTCGCCTGCGCTGAG	0.413																																						uc002tku.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(199-201)AGG>AGA		solute carrier family 35, member F5							87.0	85.0	86.0					2																	114512814		2203	4300	6503	SO:0001819	synonymous_variant	80255				transport	integral to membrane		g.chr2:114512814C>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.201G>A	2.37:g.114512814C>T						SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Silent_p.R61R|SLC35F5_uc002tkw.2_Silent_p.R67R	p.R67R	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN			3	625	-			67					Q9H6P8|Q9H7D8	Silent	SNP	ENST00000245680.2	37	c.201G>A	CCDS2119.1																																																																																				PASS	0.413	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		22	84	22	84	---	---	---	---
GYPC	2995	broad.mit.edu	37	2	127447886	127447886	+	Splice_Site	SNP	A	A	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:127447886A>C	ENST00000259254.4	+	2	436	c.105A>C	c.(103-105)gcA>gcC	p.A35A	GYPC_ENST00000356887.7_Splice_Site_p.A14A|GYPC_ENST00000409836.3_Intron|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	35						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A35A(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCACCATTGCAGGTGAGTTCT	0.527																																					Melanoma(110;806 1600 6704 9981 33404)	uc002tnq.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(103-105)GCA>GCC		glycophorin C isoform 1							121.0	96.0	104.0					2																	127447886		2203	4300	6503	SO:0001630	splice_region_variant	2995					cortical cytoskeleton|integral to plasma membrane	protein binding	g.chr2:127447886A>C		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"""CD molecules"", ""Blood group antigens"""	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.106+1A>C	2.37:g.127447886A>C						GYPC_uc002tnr.2_Intron|GYPC_uc010flv.2_RNA	p.A35A	NM_002101	NP_002092	P04921	GLPC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.075)	2	261	+	Colorectal(110;0.0533)		35			Extracellular.		B2R522|Q53SV9|Q92642	Silent	SNP	ENST00000259254.4	37	c.105A>C	CCDS2136.1																																																																																				PASS	0.527	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1	NM_002101	Silent	62	30	62	30	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133489454	133489454	+	Nonsense_Mutation	SNP	G	G	A	rs559275412		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:133489454G>A	ENST00000409261.1	-	17	5672	c.5299C>T	c.(5299-5301)Caa>Taa	p.Q1767*	NCKAP5_ENST00000409213.1_Nonsense_Mutation_p.Q448*|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Nonsense_Mutation_p.Q448*|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.Q1767*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1767								p.Q1767*(1)|p.Q287*(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAAGGGTTTGGGCTCTCATG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17863	0.0		0.001	False		,,,				2504	0.0					uc002ttp.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(5299-5301)CAA>TAA		Nck-associated protein 5 isoform 1							102.0	107.0	106.0					2																	133489454		2075	4209	6284	SO:0001587	stop_gained	344148						protein binding	g.chr2:133489454G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5299C>T	2.37:g.133489454G>A	ENSP00000387128:p.Gln1767*					NCKAP5_uc002ttq.2_Nonsense_Mutation_p.Q448*	p.Q1767*	NM_207363	NP_997246	O14513	NCKP5_HUMAN			17	5673	-			1767					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Nonsense_Mutation	SNP	ENST00000409261.1	37	c.5299C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	39	7.362102	0.98235	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	.	.	.	5.2	4.25	0.50352	.	0.275476	0.18630	U	0.135601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	10.6517	0.45653	0.0:0.0:0.7149:0.2851	.	.	.	.	X	1767;448;1767;448;448	.	ENSP00000380603:Q1767X	Q	-	1	0	NCKAP5	133205924	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.147000	0.42226	2.717000	0.92951	0.655000	0.94253	CAA		PASS	0.592	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		51	51	51	51	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162751258	162751258	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:162751258G>A	ENST00000446997.1	+	11	1357	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	SLC4A10_ENST00000415876.2_Missense_Mutation_p.D392N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D392N|SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.W392*|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.D403N|SLC4A10_ENST00000421911.1_Missense_Mutation_p.D422N	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	422					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.D392N(1)|p.D422N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGAGTTTCTGGATCAGGTTAC	0.368																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1264-1266)GAT>AAT		solute carrier family 4, sodium bicarbonate							114.0	110.0	111.0					2																	162751258		1835	4086	5921	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162751258G>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1264G>A	2.37:g.162751258G>A	ENSP00000393066:p.Asp422Asn					SLC4A10_uc010fpa.1_Missense_Mutation_p.D434N|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.D392N|SLC4A10_uc010zcs.1_Missense_Mutation_p.D403N	p.D422N	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			11	1448	+			422			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1264G>A	CCDS54411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.151551|6.151551	0.97329|0.97329	.|.	.|.	ENSG00000144290|ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711|ENST00000535165	T;T;T;T;T|.	0.75260|.	-0.92;-0.92;-0.92;-0.92;-0.92|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88355|.	0.6414|.	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	1.0;0.933;1.0;1.0|.	D;P;D;D|.	0.97110|.	1.0;0.897;1.0;0.999|.	D|.	0.91551|.	0.5257|.	10|.	0.87932|.	D|.	0|.	.|.	19.6166|19.6166	0.95636|0.95636	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	403;422;392;422|.	F8W675;E7EW28;Q6U841-2;Q6U841|.	.;.;.;S4A10_HUMAN|.	N|X	403;392;392;391;422;422;421|392	ENSP00000364664:D403N;ENSP00000395797:D392N;ENSP00000272716:D392N;ENSP00000393066:D422N;ENSP00000404486:D422N|.	ENSP00000272716:D392N|.	D|W	+|+	1|3	0|0	SLC4A10|SLC4A10	162459504|162459504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.813000|9.813000	0.99286|0.99286	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	GAT|TGG		PASS	0.368	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		15	46	15	46	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166165901	166165901	+	Silent	SNP	G	G	C	rs370724112	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:166165901G>C	ENST00000375437.2	+	6	935	c.645G>C	c.(643-645)gcG>gcC	p.A215A	SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000375427.2_Intron|SCN2A_ENST00000357398.3_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	215					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A215A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCTCAGCGTTGAGAACAT	0.438																																						uc002udc.2																			2	Substitution - coding silent(2)		prostate(1)|lung(1)	ovary(6)|breast(1)|pancreas(1)	8						c.(643-645)GCG>GCC		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						101.0	92.0	95.0					2																	166165901		2203	4299	6502	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165901G>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.645G>C	2.37:g.166165901G>C						SCN2A_uc002udd.2_Silent_p.A215A|SCN2A_uc002ude.2_Intron	p.A215A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			6	935	+			215			Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).|I.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.645G>C	CCDS33314.1																																																																																				PASS	0.438	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		52	52	52	52	---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175213308	175213308	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:175213308G>A	ENST00000342016.3	-	10	1362	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	424	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H424Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TCTGTGCCATGGCTTCTGCTG	0.463																																						uc002uim.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1270-1272)CAT>TAT		CBF1 interacting corepressor							230.0	221.0	224.0					2																	175213308		2203	4300	6503	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213308G>A	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.1270C>T	2.37:g.175213308G>A	ENSP00000339723:p.His424Tyr					CIR1_uc002uin.2_Missense_Mutation_p.H298Y|CIR1_uc002uio.2_Missense_Mutation_p.H251Y|CIR1_uc002uip.2_Missense_Mutation_p.H313Y	p.H424Y	NM_004882	NP_004873	Q86X95	CIR1_HUMAN			10	1363	-			424			Arg/Ser-rich (RS domain).		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.1270C>T	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648410	0.29336	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.03	5.06	0.68205	.	0.972022	0.08482	N	0.939262	T	0.43612	0.1255	L	0.56769	1.78	0.09310	N	0.999999	P	0.48162	0.906	B	0.41619	0.361	T	0.41288	-0.9517	9	0.59425	D	0.04	.	11.4302	0.50036	0.1127:0.0:0.8873:0.0	.	424	Q86X95	CIR1_HUMAN	Y	424	.	ENSP00000339723:H424Y	H	-	1	0	CIR1	174921554	0.755000	0.28372	0.444000	0.26895	0.149000	0.21700	1.812000	0.38952	2.868000	0.98415	0.557000	0.71058	CAT		PASS	0.463	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		165	270	165	270	---	---	---	---
WIPF1	7456	broad.mit.edu	37	2	175436784	175436784	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:175436784G>A	ENST00000392547.2	-	5	848	c.749C>T	c.(748-750)cCt>cTt	p.P250L	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.P250L|WIPF1_ENST00000272746.5_Missense_Mutation_p.P250L|WIPF1_ENST00000409891.1_Missense_Mutation_p.P250L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.P250L|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409415.3_Missense_Mutation_p.P250L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	250					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.P250L(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CGGCAGGGGAGGCCGGTTGGA	0.657																																						uc002uiy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(748-750)CCT>CTT		WAS/WASL interacting protein family, member 1							16.0	19.0	18.0					2																	175436784		2200	4296	6496	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436784G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.749C>T	2.37:g.175436784G>A	ENSP00000376330:p.Pro250Leu					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.P250L|WIPF1_uc010fqt.1_Missense_Mutation_p.P250L|WIPF1_uc002ujc.1_Missense_Mutation_p.P250L|WIPF1_uc002uiz.2_Missense_Mutation_p.P250L|WIPF1_uc002ujb.1_Missense_Mutation_p.P250L|WIPF1_uc010zep.1_Missense_Mutation_p.P250L	p.P250L	NM_003387	NP_003378	O43516	WIPF1_HUMAN			6	1081	-			250					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.749C>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023456	0.54683	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.63255	1.16;1.13;1.16;1.16;0.65;-0.03	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.68952	2.095	0.80722	D	1	P;D;P;P	0.60160	0.827;0.987;0.827;0.734	B;P;B;B	0.49528	0.439;0.614;0.439;0.254	T	0.75133	-0.3425	10	0.66056	D	0.02	.	16.8507	0.85993	0.0:0.0:1.0:0.0	.	250;250;250;250	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	L	250	ENSP00000376330:P250L;ENSP00000272746:P250L;ENSP00000352802:P250L;ENSP00000376329:P250L;ENSP00000386431:P250L;ENSP00000387150:P250L	ENSP00000272746:P250L	P	-	2	0	WIPF1	175145030	1.000000	0.71417	0.996000	0.52242	0.272000	0.26649	8.197000	0.89727	2.062000	0.61559	0.511000	0.50034	CCT		PASS	0.657	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		9	8	9	8	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179588322	179588322	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:179588322T>A	ENST00000591111.1	-	72	20778	c.20554A>T	c.(20554-20556)Aac>Tac	p.N6852Y	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N5925Y|TTN_ENST00000589042.1_Missense_Mutation_p.N7169Y|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12443	Ig-like 50.				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.N5925Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAACCAGTTGACTTTGAAT	0.418																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(17773-17775)AAC>TAC		titin isoform N2-A							63.0	59.0	60.0					2																	179588322		1849	4088	5937	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588322T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20554A>T	2.37:g.179588322T>A	ENSP00000465570:p.Asn6852Tyr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N2586Y	p.N5925Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		71	17997	-			6852					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.17773A>T		.	.	.	.	.	.	.	.	.	.	T	4.884	0.164311	0.09287	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	6.02	2.23	0.28157	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48132	0.1483	N	0.13272	0.32	0.23483	N	0.99759	B	0.18968	0.032	B	0.28385	0.089	T	0.44847	-0.9301	9	0.87932	D	0	.	4.9468	0.13993	0.0:0.4073:0.2641:0.3287	.	6852	Q8WZ42	TITIN_HUMAN	Y	5925	ENSP00000343764:N5925Y	ENSP00000343764:N5925Y	N	-	1	0	TTN	179296567	0.429000	0.25530	0.218000	0.23776	0.903000	0.53119	1.195000	0.32186	0.133000	0.18654	-0.137000	0.14449	AAC		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	35	27	35	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196737067	196737067	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:196737067G>T	ENST00000312428.6	-	40	6640	c.6540C>A	c.(6538-6540)ctC>ctA	p.L2180L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2180	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L2180L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAAATCACGGAGGTTGAACA	0.393																																						uc002utj.3																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(6538-6540)CTC>CTA		dynein, axonemal, heavy chain 7							167.0	155.0	158.0					2																	196737067		1863	4100	5963	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737067G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6540C>A	2.37:g.196737067G>T							p.L2180L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			40	6641	-			2180			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.6540C>A	CCDS42794.1																																																																																				PASS	0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	137	4	137	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196849409	196849409	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:196849409C>A	ENST00000312428.6	-	15	1880	c.1780G>T	c.(1780-1782)Gct>Tct	p.A594S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	594	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.A594S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTTTTTCAGCTATCCTCTCA	0.308																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(1780-1782)GCT>TCT		dynein, axonemal, heavy chain 7							141.0	129.0	133.0					2																	196849409		1831	4088	5919	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196849409C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1780G>T	2.37:g.196849409C>A	ENSP00000311273:p.Ala594Ser						p.A594S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			15	1881	-			594			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1780G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148080	0.37923	.	.	ENSG00000118997	ENST00000312428	T	0.21361	2.01	5.35	4.45	0.53987	.	0.345473	0.28156	N	0.016382	T	0.20210	0.0486	L	0.58428	1.81	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.05716	-1.0868	10	0.07482	T	0.82	.	13.801	0.63199	0.2921:0.7079:0.0:0.0	.	594	Q8WXX0	DYH7_HUMAN	S	594	ENSP00000311273:A594S	ENSP00000311273:A594S	A	-	1	0	DNAH7	196557654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.477000	0.45180	1.201000	0.43203	0.655000	0.94253	GCT		PASS	0.308	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		26	81	26	81	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200137310	200137310	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:200137310T>C	ENST00000417098.1	-	11	2642	c.1826A>G	c.(1825-1827)gAc>gGc	p.D609G	SATB2_ENST00000260926.5_Missense_Mutation_p.D609G|SATB2_ENST00000457245.1_Missense_Mutation_p.D609G|SATB2_ENST00000428695.1_Missense_Mutation_p.D491G|SATB2_ENST00000443023.1_Missense_Mutation_p.D550G	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	609					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.D609G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCACAACTGTCTTCAGTCGG	0.527																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1825-1827)GAC>GGC		SATB homeobox 2							71.0	79.0	76.0					2																	200137310		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137310T>C	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1826A>G	2.37:g.200137310T>C	ENSP00000401112:p.Asp609Gly					SATB2_uc010fsq.1_Missense_Mutation_p.D491G|SATB2_uc002uuz.1_Missense_Mutation_p.D609G|SATB2_uc002uva.1_Missense_Mutation_p.D609G	p.D609G	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2643	-			609					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1826A>G	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908818	0.33721	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.9;0.89	5.25	5.25	0.73442	Homeodomain-like (1);	0.253027	0.39407	N	0.001372	T	0.29783	0.0744	N	0.08118	0	0.49389	D	0.999789	P;P	0.44877	0.787;0.845	B;B	0.43809	0.31;0.432	T	0.26538	-1.0100	10	0.54805	T	0.06	-26.3754	15.4868	0.75573	0.0:0.0:0.0:1.0	.	491;609	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	G	609;550;609;491;609	ENSP00000401112:D609G;ENSP00000388764:D550G;ENSP00000260926:D609G;ENSP00000388581:D491G;ENSP00000405420:D609G	ENSP00000260926:D609G	D	-	2	0	SATB2	199845555	1.000000	0.71417	0.998000	0.56505	0.461000	0.32589	3.458000	0.53014	2.117000	0.64856	0.524000	0.50904	GAC		PASS	0.527	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		33	109	33	109	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201521602	201521602	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:201521602T>C	ENST00000374700.2	+	27	3354	c.3113T>C	c.(3112-3114)gTg>gCg	p.V1038A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1038					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.V1038A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GATGGCTCTGTGCTGGTCACT	0.423																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(3112-3114)GTG>GCG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						113.0	104.0	107.0					2																	201521602		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201521602T>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3113T>C	2.37:g.201521602T>C	ENSP00000363832:p.Val1038Ala					AOX1_uc010zhf.1_Missense_Mutation_p.V594A|AOX1_uc010fsu.2_Missense_Mutation_p.V404A	p.V1038A	NM_001159	NP_001150	Q06278	ADO_HUMAN			27	3214	+			1038					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3113T>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710541	0.68730	.	.	ENSG00000138356	ENST00000374700	T	0.53640	0.61	5.41	3.0	0.34707	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.057254	0.64402	N	0.000001	T	0.63474	0.2514	M	0.89658	3.05	0.53688	D	0.999971	P	0.37330	0.59	P	0.47827	0.558	T	0.65307	-0.6200	10	0.62326	D	0.03	-40.0634	9.9577	0.41678	0.0:0.0994:0.0:0.9006	.	1038	Q06278	ADO_HUMAN	A	1038	ENSP00000363832:V1038A	ENSP00000363832:V1038A	V	+	2	0	AOX1	201229847	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	2.549000	0.45803	0.474000	0.27392	0.459000	0.35465	GTG		PASS	0.423	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		21	59	21	59	---	---	---	---
ACADL	33	broad.mit.edu	37	2	211082716	211082716	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:211082716T>A	ENST00000233710.3	-	3	571	c.344A>T	c.(343-345)tAc>tTc	p.Y115F	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	115					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)	p.Y115F(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		AGCTGCGGAGTACAGATCCCC	0.448																																						uc002vdz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)TAC>TTC		long-chain acyl-CoA dehydrogenase precursor							139.0	125.0	130.0					2																	211082716		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211082716T>A	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.344A>T	2.37:g.211082716T>A	ENSP00000233710:p.Tyr115Phe					ACADL_uc010zjg.1_Missense_Mutation_p.Y115F	p.Y115F	NM_001608	NP_001599	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	3	572	-		Renal(323;0.202)	115					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.344A>T	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	T	2.324	-0.354984	0.05138	.	.	ENSG00000115361	ENST00000233710	D	0.99698	-6.44	5.41	-7.65	0.01281	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.920254	0.09401	N	0.807264	D	0.96402	0.8826	N	0.05330	-0.07	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	D	0.96179	0.9129	10	0.11485	T	0.65	.	8.2164	0.31514	0.6047:0.1406:0.0:0.2546	.	115	P28330	ACADL_HUMAN	F	115	ENSP00000233710:Y115F	ENSP00000233710:Y115F	Y	-	2	0	ACADL	210790961	0.484000	0.25964	0.010000	0.14722	0.062000	0.15995	0.857000	0.27831	-0.708000	0.05015	0.455000	0.32223	TAC		PASS	0.448	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		12	70	12	70	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212989624	212989624	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:212989624A>T	ENST00000342788.4	-	2	397	c.87T>A	c.(85-87)tgT>tgA	p.C29*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.C29*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.C29*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	29					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C29*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCGTTCCTGCACACACTGCAA	0.423										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Nonsense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(85-87)TGT>TGA		v-erb-a erythroblastic leukemia viral oncogene							94.0	88.0	90.0					2																	212989624		2203	4300	6503	SO:0001587	stop_gained	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212989624A>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.87T>A	2.37:g.212989624A>T	ENSP00000342235:p.Cys29*	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Nonsense_Mutation_p.C29*|ERBB4_uc010zji.1_Nonsense_Mutation_p.C29*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.C29*|ERBB4_uc010fut.1_Nonsense_Mutation_p.C29*	p.C29*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	2	185	-		Renal(323;0.06)|Lung NSC(271;0.197)	29			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	c.87T>A	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.5|28.5	4.921545|4.921545	0.92249|0.92249	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	.|.	.|.	.|.	5.28|5.28	-0.0644|-0.0644	0.13772|0.13772	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.47284	.|0.1437	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53676	.|-0.8405	.|3	.|.	.|.	.|.	.|.	9.507|9.507	0.39053|0.39053	0.7239:0.0:0.2761:0.0|0.7239:0.0:0.2761:0.0	.|.	.|.	.|.	.|.	X|E	29|29	.|.	.|.	C|V	-|-	3|2	2|0	ERBB4|ERBB4	212697869|212697869	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.994000|0.994000	0.84299|0.84299	1.219000|1.219000	0.32479|0.32479	-0.241000|-0.241000	0.09681|0.09681	0.533000|0.533000	0.62120|0.62120	TGT|GTG		PASS	0.423	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		19	19	19	19	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216274441	216274441	+	Missense_Mutation	SNP	G	G	A	rs144664306	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:216274441G>A	ENST00000359671.1	-	15	2409	c.2144C>T	c.(2143-2145)aCg>aTg	p.T715M	FN1_ENST00000443816.1_Missense_Mutation_p.T715M|FN1_ENST00000336916.4_Missense_Mutation_p.T715M|FN1_ENST00000354785.4_Missense_Mutation_p.T715M|FN1_ENST00000356005.4_Missense_Mutation_p.T715M|FN1_ENST00000323926.6_Missense_Mutation_p.T715M|FN1_ENST00000432072.2_Missense_Mutation_p.T715M|FN1_ENST00000357867.4_Missense_Mutation_p.T715M|FN1_ENST00000346544.3_Missense_Mutation_p.T715M|FN1_ENST00000357009.2_Missense_Mutation_p.T715M|FN1_ENST00000421182.1_Missense_Mutation_p.T715M|FN1_ENST00000345488.5_Missense_Mutation_p.T715M|FN1_ENST00000446046.1_Missense_Mutation_p.T715M			P02751	FINC_HUMAN	fibronectin 1	715					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.T715M(3)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AAAGGGAGTCGTCTCTCCTGT	0.502													G|||	6	0.00119808	0.0008	0.0	5008	,	,		19769	0.001		0.0	False		,,,				2504	0.0041					uc002vfa.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(2143-2145)ACG>ATG		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	49.0	43.0	45.0		2144,2144,2144,2144,2144	3.9	0.7	2	dbSNP_134	45	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense,missense,missense,missense	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	81,81,81,81,81	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	715/2356,715/2177,715/2297,715/2331,715/2478	216274441	9,12997	2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216274441G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2144C>T	2.37:g.216274441G>A	ENSP00000352696:p.Thr715Met					FN1_uc002vfb.2_Missense_Mutation_p.T715M|FN1_uc002vfc.2_Missense_Mutation_p.T715M|FN1_uc002vfd.2_Missense_Mutation_p.T715M|FN1_uc002vfe.2_Missense_Mutation_p.T715M|FN1_uc002vff.2_Missense_Mutation_p.T715M|FN1_uc002vfg.2_Missense_Mutation_p.T715M|FN1_uc002vfh.2_Missense_Mutation_p.T715M|FN1_uc002vfi.2_Missense_Mutation_p.T715M|FN1_uc002vfj.2_Missense_Mutation_p.T715M	p.T715M	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	15	2410	-		Renal(323;0.127)	715					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2144C>T		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	18.71	3.683226	0.68157	0.0	0.001047	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;2.03;2.21;0.74;2.26;1.89;2.25;1.91;2.2;1.92;1.41;0.75;1.32	5.81	3.94	0.45596	.	0.166645	0.41823	D	0.000804	T	0.63780	0.2540	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.996;0.992;0.998;0.997;1.0;0.999;0.998;0.998;0.995	D;D;P;P;B;D;P;P;P;P	0.71656	0.911;0.913;0.72;0.633;0.43;0.974;0.869;0.633;0.633;0.892	T	0.66069	-0.6015	10	0.72032	D	0.01	.	13.0344	0.58862	0.0:0.124:0.7468:0.1292	.	715;715;715;715;715;715;715;715;715;715	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	M	715	ENSP00000394423:T715M;ENSP00000323534:T715M;ENSP00000338200:T715M;ENSP00000350534:T715M;ENSP00000346839:T715M;ENSP00000352696:T715M;ENSP00000265312:T715M;ENSP00000273049:T715M;ENSP00000349509:T715M;ENSP00000410422:T715M;ENSP00000415018:T715M;ENSP00000399538:T715M;ENSP00000348285:T715M	ENSP00000265313:T715M	T	-	2	0	FN1	215982686	1.000000	0.71417	0.667000	0.29798	0.619000	0.37552	7.539000	0.82063	0.836000	0.34901	0.655000	0.94253	ACG		PASS	0.502	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		11	28	11	28	---	---	---	---
ASB18	401036	broad.mit.edu	37	2	237149976	237149976	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:237149976T>C	ENST00000409749.3	-	2	274	c.275A>G	c.(274-276)aAt>aGt	p.N92S	AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000330842.6_Missense_Mutation_p.N63S	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	92					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.N63S(1)|p.N92S(1)		large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CTCATCCTTATTGATCTCAAA	0.498																																						uc010znh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(274-276)AAT>AGT		ankyrin repeat and SOCS box-containing 18							114.0	116.0	116.0					2																	237149976		1947	4139	6086	SO:0001583	missense	401036				intracellular signal transduction			g.chr2:237149976T>C	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.275A>G	2.37:g.237149976T>C	ENSP00000386532:p.Asn92Ser					ASB18_uc010fyp.1_Missense_Mutation_p.N63S	p.N92S	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	2	275	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	92					B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	c.275A>G	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	T	1.749	-0.489803	0.04352	.	.	ENSG00000182177	ENST00000330842;ENST00000409749	T;T	0.36699	1.24;1.31	4.82	-0.12	0.13539	Ankyrin repeat-containing domain (1);	2.730670	0.01503	N	0.017569	T	0.20577	0.0495	N	0.11845	0.185	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.002	T	0.12451	-1.0547	10	0.15066	T	0.55	.	6.1844	0.20490	0.1402:0.4856:0.0:0.3742	.	92;63	Q6ZVZ8;Q6ZVZ8-2	ASB18_HUMAN;.	S	63;92	ENSP00000329970:N63S;ENSP00000386532:N92S	ENSP00000329970:N63S	N	-	2	0	ASB18	236814715	0.036000	0.19791	0.005000	0.12908	0.944000	0.59088	0.113000	0.15499	-0.176000	0.10707	0.533000	0.62120	AAT		PASS	0.498	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		16	42	16	42	---	---	---	---
GPR35	2859	broad.mit.edu	37	2	241569781	241569781	+	Missense_Mutation	SNP	G	G	A	rs376265458		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:241569781G>A	ENST00000319838.5	+	6	1354	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	GPR35_ENST00000430267.1_Missense_Mutation_p.A138T|GPR35_ENST00000438013.2_Missense_Mutation_p.A169T|GPR35_ENST00000403859.1_Missense_Mutation_p.A138T|GPR35_ENST00000407714.1_Missense_Mutation_p.A138T	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	138					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A138T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGCCGTGTGCGCGGTCCTCTG	0.706																																						uc002vzs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(412-414)GCG>ACG		G protein-coupled receptor 35		G	THR/ALA,THR/ALA,THR/ALA	0,4318		0,0,2159	16.0	18.0	17.0		505,505,412	-2.9	0.0	2		17	1,8425		0,1,4212	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	58,58,58	0,1,6371	AA,AG,GG		0.0119,0.0,0.0078	benign,benign,benign	169/341,169/341,138/310	241569781	1,12743	2159	4213	6372	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569781G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.412G>A	2.37:g.241569781G>A	ENSP00000322731:p.Ala138Thr					GPR35_uc010fzh.1_Missense_Mutation_p.A169T|GPR35_uc010fzi.1_Missense_Mutation_p.A169T	p.A138T	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	1	987	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	138			Helical; Name=4; (Potential).		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.412G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805878	0.16467	0.0	1.19E-4	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.01	-2.87	0.05700	GPCR, rhodopsin-like superfamily (1);	5.692270	0.02888	N	0.133775	T	0.26231	0.0640	L	0.37750	1.13	0.09310	N	1	P;P;B	0.41848	0.723;0.763;0.383	B;B;B	0.34824	0.122;0.19;0.125	T	0.12553	-1.0543	10	0.34782	T	0.22	-2.895	1.9157	0.03297	0.2545:0.3782:0.2378:0.1294	.	223;169;138	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	T	138;138;169;138;138	ENSP00000322731:A138T;ENSP00000385140:A138T;ENSP00000415890:A169T;ENSP00000384263:A138T;ENSP00000411788:A138T	ENSP00000322731:A138T	A	+	1	0	GPR35	241218454	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.225000	0.09151	-0.791000	0.04486	-0.384000	0.06662	GCG		PASS	0.706	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		8	10	8	10	---	---	---	---
GADL1	339896	broad.mit.edu	37	3	30842566	30842566	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:30842566T>A	ENST00000282538.5	-	12	1215	c.1065A>T	c.(1063-1065)aaA>aaT	p.K355N	GADL1_ENST00000454381.3_Missense_Mutation_p.K355N	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	355					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.K355N(1)|p.K171N(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						CAGAGTAGCATTTTTTAAGAA	0.368																																						uc003cep.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1063-1065)AAA>AAT		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						81.0	73.0	76.0					3																	30842566		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30842566T>A	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1065A>T	3.37:g.30842566T>A	ENSP00000282538:p.Lys355Asn					GADL1_uc003ceq.1_Missense_Mutation_p.K355N	p.K355N	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			12	1112	-			355						Missense_Mutation	SNP	ENST00000282538.5	37	c.1065A>T	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	T	2.879	-0.232352	0.05983	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.38077	1.16;1.16	5.47	1.8	0.24995	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.517161	0.18498	N	0.139455	T	0.22704	0.0548	L	0.38733	1.17	0.33356	D	0.571688	B	0.06786	0.001	B	0.12837	0.008	T	0.24297	-1.0164	10	0.17369	T	0.5	.	5.5225	0.16941	0.0:0.32:0.1411:0.5389	.	355	Q6ZQY3	GADL1_HUMAN	N	355	ENSP00000282538:K355N;ENSP00000427059:K355N	ENSP00000282538:K355N	K	-	3	2	GADL1	30817570	0.986000	0.35501	0.995000	0.50966	0.279000	0.26890	0.463000	0.21972	0.076000	0.16826	0.477000	0.44152	AAA		PASS	0.368	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		37	27	37	27	---	---	---	---
ZNF502	91392	broad.mit.edu	37	3	44761767	44761767	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:44761767A>T	ENST00000296091.4	+	3	270	c.14A>T	c.(13-15)cAa>cTa	p.Q5L	ZNF502_ENST00000449836.1_Missense_Mutation_p.Q5L|ZNF502_ENST00000436624.2_Missense_Mutation_p.Q5L	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	5					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.Q5L(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TTGAATATGCAAGGAGCTGAA	0.478																																						uc011baa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)CAA>CTA		zinc finger protein 502							104.0	99.0	101.0					3																	44761767		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44761767A>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.14A>T	3.37:g.44761767A>T	ENSP00000296091:p.Gln5Leu					ZNF502_uc003cns.2_Missense_Mutation_p.Q5L|ZNF502_uc011bab.1_Missense_Mutation_p.Q5L|ZNF502_uc003cnt.2_Missense_Mutation_p.Q5L	p.Q5L	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	3	269	+			5						Missense_Mutation	SNP	ENST00000296091.4	37	c.14A>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126851	0.37533	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.52983	3.34;3.34;3.34;0.64	4.16	4.16	0.48862	.	.	.	.	.	T	0.28499	0.0705	N	0.08118	0	0.29099	N	0.881626	B	0.23058	0.079	B	0.20384	0.029	T	0.20140	-1.0284	9	0.87932	D	0	-6.5246	9.8169	0.40858	1.0:0.0:0.0:0.0	.	5	Q8TBZ5	ZN502_HUMAN	L	5	ENSP00000397390:Q5L;ENSP00000296091:Q5L;ENSP00000406469:Q5L;ENSP00000401717:Q5L	ENSP00000296091:Q5L	Q	+	2	0	ZNF502	44736771	0.976000	0.34144	0.993000	0.49108	0.487000	0.33371	2.730000	0.47335	1.897000	0.54924	0.460000	0.39030	CAA		PASS	0.478	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		41	28	41	28	---	---	---	---
IQCF3	401067	broad.mit.edu	37	3	51864598	51864598	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:51864598G>T	ENST00000456080.1	+	8	1411	c.246G>T	c.(244-246)ctG>ctT	p.L82L	IQCF3_ENST00000446775.1_Silent_p.L82L|IQCF3_ENST00000437810.2_Silent_p.L82L|IQCF3_ENST00000440739.2_Silent_p.L82L|IQCF3_ENST00000444293.1_Missense_Mutation_p.V46F|IQCF3_ENST00000462079.1_3'UTR			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	82								p.L82L(2)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCAGGCCCTGTTGAGGGTCT	0.622																																						uc010hlx.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(244-246)CTG>CTT		IQ motif containing F3							66.0	80.0	75.0					3																	51864598		2193	4279	6472	SO:0001819	synonymous_variant	401067							g.chr3:51864598G>T	AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.246G>T	3.37:g.51864598G>T						IQCF1_uc003dbq.3_Intron|IQCF3_uc010hlw.1_RNA|IQCF3_uc011bdw.1_RNA	p.L82L	NM_001085479	NP_001078948	P0C7M6	IQCF3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	587	+			82					B2RUV0	Silent	SNP	ENST00000456080.1	37	c.246G>T	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	g	13.16	2.154332	0.38021	.	.	ENSG00000229972	ENST00000444293	.	.	.	4.72	-1.98	0.07480	.	.	.	.	.	T	0.28300	0.0699	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.36456	-0.9747	5	0.87932	D	0	.	1.3644	0.02198	0.1696:0.1347:0.2938:0.402	.	.	.	.	F	46	.	ENSP00000402530:V46F	V	+	1	0	IQCF3	51839638	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.761000	0.04751	-0.518000	0.06452	0.655000	0.94253	GTT		PASS	0.622	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346579.2	NM_001085479		26	21	26	21	---	---	---	---
EOGT	285203	broad.mit.edu	37	3	69054327	69054327	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:69054327T>C	ENST00000383701.3	-	7	1221	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	EOGT_ENST00000295571.5_Missense_Mutation_p.Y160C|EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Missense_Mutation_p.Y59C	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	160					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)	p.Y160C(1)									TAAATCAAGATAGAGATTGGT	0.353																																						uc003dnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)TAT>TGT		AER61 glycosyltransferase							114.0	116.0	116.0					3																	69054327		2203	4300	6503	SO:0001583	missense	285203					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:69054327T>C	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.479A>G	3.37:g.69054327T>C	ENSP00000373206:p.Tyr160Cys					C3orf64_uc003dnk.2_Missense_Mutation_p.Y160C|C3orf64_uc011bfw.1_RNA|C3orf64_uc003dnm.1_RNA	p.Y160C	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)	7	884	-		Lung NSC(201;0.126)	160					A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37	c.479A>G		.	.	.	.	.	.	.	.	.	.	T	19.60	3.858744	0.71834	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	T;T;T	0.08370	3.1;3.1;3.1	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.02844	-1.1103	10	0.87932	D	0	-8.9136	14.4345	0.67272	0.0:0.0:0.0:1.0	.	160;160	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	C	160;160;59	ENSP00000373206:Y160C;ENSP00000295571:Y160C;ENSP00000443780:Y59C	ENSP00000295571:Y160C	Y	-	2	0	C3orf64	69137017	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.134000	0.71689	1.959000	0.56917	0.482000	0.46254	TAT		PASS	0.353	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		3	95	3	95	---	---	---	---
PAQR9	344838	broad.mit.edu	37	3	142681325	142681325	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:142681325A>T	ENST00000340634.3	-	1	853	c.854T>A	c.(853-855)gTg>gAg	p.V285E	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	285						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V285E(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GGCGGCCACCACCAGCCAGAA	0.597																																						uc003evg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(853-855)GTG>GAG		progestin and adipoQ receptor family member IX							55.0	57.0	57.0					3																	142681325		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681325A>T	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.854T>A	3.37:g.142681325A>T	ENSP00000341564:p.Val285Glu					PAQR9_uc003evf.1_RNA	p.V285E	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	854	-			285			Extracellular (Potential).		Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.854T>A	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859254	0.71834	.	.	ENSG00000188582	ENST00000340634	T	0.32272	1.46	5.63	3.3	0.37823	.	0.281853	0.29369	N	0.012351	T	0.32526	0.0832	N	0.19112	0.55	0.40411	D	0.979745	D	0.58970	0.984	P	0.59643	0.861	T	0.12967	-1.0527	10	0.62326	D	0.03	-27.6381	9.3725	0.38264	0.8573:0.0:0.1427:0.0	.	285	Q6ZVX9	PAQR9_HUMAN	E	285	ENSP00000341564:V285E	ENSP00000341564:V285E	V	-	2	0	PAQR9	144164015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.435000	0.80391	0.975000	0.38392	0.533000	0.62120	GTG		PASS	0.597	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		8	147	8	147	---	---	---	---
PAQR9	344838	broad.mit.edu	37	3	142681705	142681705	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:142681705G>C	ENST00000340634.3	-	1	473	c.474C>G	c.(472-474)taC>taG	p.Y158*	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	158						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Y158*(1)|p.Y158Y(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGATGGACGCGTAGTCCAGGT	0.612																																						uc003evg.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)		0						c.(472-474)TAC>TAG		progestin and adipoQ receptor family member IX							41.0	38.0	39.0					3																	142681705		2203	4300	6503	SO:0001587	stop_gained	344838					integral to membrane	receptor activity	g.chr3:142681705G>C	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.474C>G	3.37:g.142681705G>C	ENSP00000341564:p.Tyr158*					PAQR9_uc003evf.1_5'Flank	p.Y158*	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	474	-			158			Cytoplasmic (Potential).		Q147T6	Nonsense_Mutation	SNP	ENST00000340634.3	37	c.474C>G	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585435	0.86748	.	.	ENSG00000188582	ENST00000340634	.	.	.	4.78	0.884	0.19182	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2822	9.0137	0.36157	0.3801:0.0:0.6199:0.0	.	.	.	.	X	158	.	ENSP00000341564:Y158X	Y	-	3	2	PAQR9	144164395	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.639000	0.24690	0.181000	0.19994	0.561000	0.74099	TAC		PASS	0.612	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		14	63	14	63	---	---	---	---
PAQR9	344838	broad.mit.edu	37	3	142681846	142681846	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:142681846G>T	ENST00000340634.3	-	1	332	c.333C>A	c.(331-333)gaC>gaA	p.D111E	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	111						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D111E(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GGAAGGGCACGTCGCCGCCGC	0.622																																						uc003evg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GAC>GAA		progestin and adipoQ receptor family member IX							71.0	76.0	74.0					3																	142681846		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681846G>T	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.333C>A	3.37:g.142681846G>T	ENSP00000341564:p.Asp111Glu					PAQR9_uc003evf.1_5'Flank	p.D111E	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	333	-			111			Extracellular (Potential).		Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.333C>A	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	7.446	0.641774	0.14451	.	.	ENSG00000188582	ENST00000340634	T	0.28454	1.61	4.75	0.164	0.14990	.	0.281457	0.25138	N	0.032858	T	0.11495	0.0280	N	0.11201	0.11	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.14227	-1.0480	10	0.27785	T	0.31	-18.0634	1.4832	0.02441	0.2019:0.2964:0.3503:0.1514	.	111	Q6ZVX9	PAQR9_HUMAN	E	111	ENSP00000341564:D111E	ENSP00000341564:D111E	D	-	3	2	PAQR9	144164536	0.002000	0.14202	0.218000	0.23776	0.769000	0.43574	-0.254000	0.08781	-0.218000	0.10018	-0.311000	0.09066	GAC		PASS	0.622	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		14	60	14	60	---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142841059	142841059	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:142841059G>T	ENST00000309575.3	+	2	2785	c.1401G>T	c.(1399-1401)aaG>aaT	p.K467N		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	467					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.K467N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCTCCTCCAAGCCTTTCGTGG	0.577																																						uc003evm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1399-1401)AAG>AAT		carbohydrate (N-acetylglucosamine-6-O)							57.0	55.0	56.0					3																	142841059		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841059G>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1401G>T	3.37:g.142841059G>T	ENSP00000307911:p.Lys467Asn						p.K467N	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	2290	+			467			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1401G>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495764	0.26774	.	.	ENSG00000175040	ENST00000309575	D	0.82711	-1.64	4.61	2.8	0.32819	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	L	0.34521	1.04	0.50813	D	0.999892	D	0.76494	0.999	D	0.72338	0.977	T	0.78841	-0.2045	10	0.32370	T	0.25	-11.098	9.9856	0.41839	0.3587:0.0:0.6413:0.0	.	467	Q9Y4C5	CHST2_HUMAN	N	467	ENSP00000307911:K467N	ENSP00000307911:K467N	K	+	3	2	CHST2	144323749	1.000000	0.71417	0.999000	0.59377	0.438000	0.31896	2.182000	0.42556	0.204000	0.20548	-1.303000	0.01326	AAG		PASS	0.577	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		22	118	22	118	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154010470	154010470	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:154010470C>T	ENST00000496811.1	-	15	1764	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	DHX36_ENST00000329463.5_Missense_Mutation_p.D548N|DHX36_ENST00000544526.1_Missense_Mutation_p.D548N|DHX36_ENST00000308361.6_Missense_Mutation_p.D562N	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	562	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.D562N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAAACGACATCATCTATGGTA	0.358																																						uc003ezy.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1684-1686)GAT>AAT		DEAH (Asp-Glu-Ala-His) box polypeptide 36							123.0	117.0	119.0					3																	154010470		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154010470C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1684G>A	3.37:g.154010470C>T	ENSP00000417078:p.Asp562Asn					DHX36_uc010hvq.2_Missense_Mutation_p.D548N|DHX36_uc003ezz.3_Missense_Mutation_p.D562N	p.D562N	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		15	1765	-			562			Helicase C-terminal.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1684G>A	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.570448|5.570448	0.96540|0.96540	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941|ENST00000469977	T;T;T;T;T|.	0.02606|.	4.23;4.23;4.23;4.23;4.23|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73110|0.73110	0.3545|0.3545	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.66528|0.66528	-0.5901|-0.5901	10|5	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	548;562;562|.	Q9H2U1-2;Q9H2U1-3;Q9H2U1|.	.;.;DHX36_HUMAN|.	N|I	562;562;548;548;476|41	ENSP00000417078:D562N;ENSP00000309296:D562N;ENSP00000444247:D548N;ENSP00000330113:D548N;ENSP00000419862:D476N|.	ENSP00000309296:D562N|.	D|M	-|-	1|3	0|0	DHX36|DHX36	155493164|155493164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.711000|7.711000	0.84669|0.84669	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|ATG		PASS	0.358	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		7	320	7	320	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167750570	167750570	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:167750570T>C	ENST00000470487.1	-	9	1603	c.914A>G	c.(913-915)tAt>tGt	p.Y305C	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Y277C	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	305					transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Y305C(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGTGGGAGCATAGAGTTTTGT	0.507																																						uc003ffe.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(1)	5						c.(913-915)TAT>TGT		golgi integral membrane protein 4							122.0	124.0	123.0					3																	167750570		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750570T>C	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.914A>G	3.37:g.167750570T>C	ENSP00000417354:p.Tyr305Cys					GOLIM4_uc011bpe.1_Missense_Mutation_p.Y305C|GOLIM4_uc011bpf.1_Missense_Mutation_p.Y277C|GOLIM4_uc011bpg.1_Missense_Mutation_p.Y277C	p.Y305C	NM_014498	NP_055313	O00461	GOLI4_HUMAN			9	1258	-			305			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.914A>G	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539033	0.45176	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.61	-7.64	0.01286	.	1.897610	0.02093	N	0.053277	T	0.33673	0.0871	L	0.51422	1.61	0.09310	N	1	P;P	0.51351	0.944;0.904	P;P	0.50192	0.634;0.634	T	0.52132	-0.8616	9	0.48119	T	0.1	2.2854	1.4347	0.02341	0.3822:0.0997:0.3248:0.1932	.	277;305	F8W785;O00461	.;GOLI4_HUMAN	C	305;277	.	ENSP00000309893:Y277C	Y	-	2	0	GOLIM4	169233264	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.331000	0.19733	-0.986000	0.03498	0.449000	0.29647	TAT		PASS	0.507	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			78	247	78	247	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170811627	170811627	+	Splice_Site	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:170811627C>T	ENST00000436636.2	-	23	3066		c.e23+1		TNIK_ENST00000357327.5_Splice_Site|TNIK_ENST00000341852.6_Splice_Site|TNIK_ENST00000369326.5_Splice_Site|TNIK_ENST00000460047.1_Splice_Site|TNIK_ENST00000475336.1_Splice_Site|TNIK_ENST00000470834.1_Splice_Site|TNIK_ENST00000538048.1_Splice_Site|TNIK_ENST00000488470.1_Splice_Site|TNIK_ENST00000284483.8_Splice_Site	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase						actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.?(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TACCAACTTACCTCTCTAATC	0.423																																						uc003fhh.2																			2	Unknown(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.e23+1		TRAF2 and NCK interacting kinase isoform 1							110.0	105.0	107.0					3																	170811627		1905	4111	6016	SO:0001630	splice_region_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170811627C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2721+1G>A	3.37:g.170811627C>T						TNIK_uc003fhi.2_Splice_Site_p.E852_splice|TNIK_uc003fhj.2_Splice_Site_p.E878_splice|TNIK_uc003fhk.2_Splice_Site_p.E899_splice|TNIK_uc003fhl.2_Splice_Site_p.E823_splice|TNIK_uc003fhm.2_Splice_Site_p.E844_splice|TNIK_uc003fhn.2_Splice_Site_p.E870_splice|TNIK_uc003fho.2_Splice_Site_p.E815_splice|TNIK_uc003fhg.2_Splice_Site_p.E85_splice	p.E907_splice	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		23	3066	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)							A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Splice_Site	SNP	ENST00000436636.2	37	c.2721_splice	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184522	0.78677	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1828	0.89783	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNIK	172294321	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.095000	0.71439	2.500000	0.84329	0.655000	0.94253	.		PASS	0.423	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	Intron	11	142	11	142	---	---	---	---
DCUN1D1	54165	broad.mit.edu	37	3	182683507	182683507	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:182683507C>T	ENST00000292782.4	-	2	191	c.38G>A	c.(37-39)cGt>cAt	p.R13H	DCUN1D1_ENST00000469954.1_5'UTR	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	13	UBA-like.					ubiquitin ligase complex (GO:0000151)		p.R13H(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CATAAACTGACGAACTTTATC	0.303																																						uc003fld.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(37-39)CGT>CAT		RP42 homolog							107.0	110.0	109.0					3																	182683507		2203	4299	6502	SO:0001583	missense	54165					ubiquitin ligase complex	protein binding	g.chr3:182683507C>T	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.38G>A	3.37:g.182683507C>T	ENSP00000292782:p.Arg13His					DCUN1D1_uc011bqn.1_5'UTR	p.R13H	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		2	87	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		13			UBA-like.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	c.38G>A	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787214	0.90367	.	.	ENSG00000043093	ENST00000292782;ENST00000458486	.	.	.	5.84	4.97	0.65823	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	M	0.72118	2.19	0.80722	D	1	D	0.63046	0.992	P	0.58520	0.84	T	0.77723	-0.2481	9	0.62326	D	0.03	-6.3724	14.7904	0.69837	0.0:0.931:0.0:0.069	.	13	Q96GG9	DCNL1_HUMAN	H	13	.	ENSP00000292782:R13H	R	-	2	0	DCUN1D1	184166201	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	1.475000	0.48197	0.591000	0.81541	CGT		PASS	0.303	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		44	400	44	400	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195517097	195517097	+	Missense_Mutation	SNP	G	G	A	rs201058947		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:195517097G>A	ENST00000463781.3	-	2	1813	c.1354C>T	c.(1354-1356)Cac>Tac	p.H452Y	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H452Y|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	457					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H452Y(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCTGGGTGTGGAAAGCTGTG	0.473													g|||	1	0.000199681	0.0	0.0	5008	,	,		20520	0.0		0.001	False		,,,				2504	0.0					uc011bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1354-1356)CAC>TAC		mucin 4 isoform a			TYR/HIS,,	0,3926		0,0,1963	212.0	210.0	211.0		1354,,	2.3	0.0	3		211	4,8296		0,4,4146	yes	missense,intron,intron	MUC4	NM_018406.6,NM_004532.5,NM_138297.4	83,,	0,4,6109	AA,AG,GG		0.0482,0.0,0.0327	possibly-damaging,,	452/5413,,	195517097	4,12222	1963	4150	6113	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517097G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1354C>T	3.37:g.195517097G>A	ENSP00000417498:p.His452Tyr					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.H334Y	p.H452Y	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1814	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	457					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1354C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	5.024	0.190039	0.09547	0.0	4.82E-4	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.49139	0.79;0.82	2.34	2.34	0.29019	.	10.141600	0.00397	U	0.000046	T	0.37625	0.1010	L	0.38175	1.15	0.09310	N	1	P;P	0.35139	0.486;0.486	B;B	0.22601	0.04;0.027	T	0.40515	-0.9559	10	0.59425	D	0.04	.	8.393	0.32540	0.0:0.0:1.0:0.0	.	452;457	E7ESK3;Q99102	.;MUC4_HUMAN	Y	452;452;426	ENSP00000417498:H452Y;ENSP00000420243:H452Y	ENSP00000376209:H426Y	H	-	1	0	MUC4	197001492	0.000000	0.05858	0.014000	0.15608	0.036000	0.12997	0.352000	0.20113	1.651000	0.50673	0.274000	0.19336	CAC		PASS	0.473	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		485	187	485	187	---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196654678	196654678	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:196654678G>T	ENST00000323460.5	+	8	2283	c.2034G>T	c.(2032-2034)aaG>aaT	p.K678N	SENP5_ENST00000445299.2_Missense_Mutation_p.K632N|SENP5_ENST00000419026.1_Missense_Mutation_p.K168N	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	678	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.K678N(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		ATATAAGAAAGTATTTGCTGA	0.403																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)	3						c.(2032-2034)AAG>AAT		SUMO1/sentrin specific peptidase 5							48.0	51.0	50.0					3																	196654678		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196654678G>T	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.2034G>T	3.37:g.196654678G>T	ENSP00000327197:p.Lys678Asn					SENP5_uc011bty.1_Missense_Mutation_p.K632N	p.K678N	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	8	2283	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		678			Protease.		B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.2034G>T	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861735	0.71949	.	.	ENSG00000119231	ENST00000323460;ENST00000445299;ENST00000419026	T;T;T	0.32023	1.47;1.47;1.47	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.35968	-0.9767	10	0.49607	T	0.09	-14.7818	10.9531	0.47341	0.0848:0.0:0.9152:0.0	.	632;678	B4DY82;Q96HI0	.;SENP5_HUMAN	N	678;632;168	ENSP00000327197:K678N;ENSP00000390231:K632N;ENSP00000396927:K168N	ENSP00000327197:K678N	K	+	3	2	SENP5	198139075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.479000	0.60236	2.836000	0.97738	0.655000	0.94253	AAG		PASS	0.403	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		99	44	99	44	---	---	---	---
LMLN	89782	broad.mit.edu	37	3	197762799	197762799	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:197762799G>A	ENST00000330198.4	+	15	1774	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	LMLN_ENST00000482695.1_Missense_Mutation_p.M569I|LMLN-AS1_ENST00000423460.1_RNA|LMLN_ENST00000332636.5_Missense_Mutation_p.M532I|LMLN_ENST00000420910.2_Missense_Mutation_p.M621I	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	584					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.M584I(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTATCCAGATGAATGGCTGGA	0.502																																						uc011buo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1750-1752)ATG>ATA		leishmanolysin-like isoform 2							127.0	120.0	122.0					3																	197762799		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197762799G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1752G>A	3.37:g.197762799G>A	ENSP00000328829:p.Met584Ile					LMLN_uc003fyt.2_Missense_Mutation_p.M569I|LMLN_uc010iar.2_Missense_Mutation_p.M621I|LMLN_uc010ias.2_Missense_Mutation_p.M532I|LMLN_uc003fyu.2_Missense_Mutation_p.M381I	p.M584I	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	15	1774	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	584					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1752G>A	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691049	0.30052	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.28	3.2	0.36748	.	0.216928	0.48286	D	0.000192	T	0.24353	0.0590	N	0.22421	0.69	0.36248	D	0.853708	B;B;B;B;B	0.12013	0.001;0.0;0.005;0.001;0.001	B;B;B;B;B	0.14023	0.01;0.002;0.007;0.01;0.003	T	0.15009	-1.0452	10	0.22109	T	0.4	-13.6146	7.5947	0.28041	0.1008:0.1729:0.7263:0.0	.	584;532;621;613;569	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	I	569;584;621;532	ENSP00000418324:M569I;ENSP00000328829:M584I;ENSP00000410926:M621I;ENSP00000328611:M532I	ENSP00000328829:M584I	M	+	3	0	LMLN	199247196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.417000	0.44653	2.452000	0.82932	0.650000	0.86243	ATG		PASS	0.502	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		247	92	247	92	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22820400	22820400	+	RNA	SNP	A	A	T	rs377577192		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:22820400A>T	ENST00000503442.1	+	0	434				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.N422Y(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTTCTGGATAACTTTGAGTG	0.423																																						uc003gqp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1264-1266)AAC>TAC		cytosolic beta-glucosidase isoform a							85.0	77.0	79.0					4																	22820400		1869	4105	5974			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22820400A>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820400A>T						GBA3_uc010iep.2_Missense_Mutation_p.N115Y|GBA3_uc011bxo.1_Missense_Mutation_p.N423Y	p.N422Y	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			5	1355	+			422					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.1264A>T																																																																																					PASS	0.423	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			5	14	5	14	---	---	---	---
SLAIN2	57606	broad.mit.edu	37	4	48422177	48422177	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:48422177C>T	ENST00000264313.6	+	7	1814	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	SLAIN2_ENST00000512093.1_Missense_Mutation_p.P299S	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	466					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P466S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCCTGCAGCACCATCTCCTTT	0.448																																						uc003gya.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1396-1398)CCA>TCA		SLAIN motif family, member 2							90.0	85.0	86.0					4																	48422177		1975	4154	6129	SO:0001583	missense	57606					centrosome		g.chr4:48422177C>T	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1396C>T	4.37:g.48422177C>T	ENSP00000264313:p.Pro466Ser						p.P466S	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN			7	1540	+			466					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.1396C>T	CCDS47051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.82|16.82	3.229182|3.229182	0.58777|0.58777	.|.	.|.	ENSG00000109171|ENSG00000109171	ENST00000264313;ENST00000512093|ENST00000510595	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.109140|.	0.64402|.	D|.	0.000005|.	T|T	0.70868|0.70868	0.3273|0.3273	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.68812|0.68812	-0.5310|-0.5310	9|5	0.18710|.	T|.	0.47|.	-9.9133|-9.9133	18.3366|18.3366	0.90290|0.90290	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	466|.	Q9P270|.	SLAI2_HUMAN|.	S|I	466;299|74	.|.	ENSP00000264313:P466S|.	P|T	+|+	1|2	0|0	SLAIN2|SLAIN2	48116934|48116934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.719000|0.719000	0.41307|0.41307	6.457000|6.457000	0.73505|0.73505	2.346000|2.346000	0.79739|0.79739	0.557000|0.557000	0.71058|0.71058	CCA|ACC		PASS	0.448	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		48	25	48	25	---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89527029	89527029	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:89527029C>A	ENST00000402738.1	+	3	294	c.55C>A	c.(55-57)Cag>Aag	p.Q19K	HERC3_ENST00000407637.1_Missense_Mutation_p.Q19K|HERC3_ENST00000264345.3_Missense_Mutation_p.Q19K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	19					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q19K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CACCAACCTGCAGGGAATTGT	0.493																																						uc003hrw.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(55-57)CAG>AAG		hect domain and RLD 3							102.0	100.0	101.0					4																	89527029		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89527029C>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.55C>A	4.37:g.89527029C>A	ENSP00000385684:p.Gln19Lys					HERC3_uc003hrv.2_Missense_Mutation_p.Q19K|HERC3_uc011cdn.1_Intron	p.Q19K	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	3	221	+			19			RCC1 1.		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.55C>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742482	0.49151	.	.	ENSG00000138641	ENST00000513325;ENST00000402738;ENST00000431413;ENST00000422770;ENST00000407637;ENST00000426683;ENST00000452979;ENST00000264345	T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.28	5.28	0.74379	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.122449	0.56097	D	0.000025	T	0.65144	0.2663	N	0.04090	-0.28	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.06405	0.002;0.001	T	0.59236	-0.7492	10	0.33141	T	0.24	.	19.1054	0.93293	0.0:1.0:0.0:0.0	.	19;19	Q15034;Q8IXX3	HERC3_HUMAN;.	K	19	ENSP00000424786:Q19K;ENSP00000385684:Q19K;ENSP00000405863:Q19K;ENSP00000410029:Q19K;ENSP00000384005:Q19K;ENSP00000389991:Q19K;ENSP00000406210:Q19K;ENSP00000264345:Q19K	ENSP00000264345:Q19K	Q	+	1	0	HERC3	89746052	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.944000	0.56629	2.744000	0.94065	0.655000	0.94253	CAG		PASS	0.493	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		49	24	49	24	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94006266	94006266	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:94006266C>T	ENST00000282020.4	+	3	623	c.365C>T	c.(364-366)tCa>tTa	p.S122L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	122					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.S122L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATTCAGCGCTCAACAGCTGGG	0.567																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(364-366)TCA>TTA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						123.0	106.0	112.0					4																	94006266		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006266C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.365C>T	4.37:g.94006266C>T	ENSP00000282020:p.Ser122Leu					GRID2_uc010ikx.2_Missense_Mutation_p.S122L|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	p.S122L	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	623	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	122			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.365C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948027	0.53186	.	.	ENSG00000152208	ENST00000282020	D	0.90324	-2.65	5.12	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.229124	0.38837	N	0.001542	D	0.85741	0.5767	N	0.19112	0.55	0.80722	D	1	B;B	0.27882	0.192;0.192	B;B	0.29176	0.099;0.042	D	0.84117	0.0404	10	0.72032	D	0.01	.	18.9145	0.92499	0.0:1.0:0.0:0.0	.	122;63	O43424;B4DYB9	GRID2_HUMAN;.	L	122	ENSP00000282020:S122L	ENSP00000282020:S122L	S	+	2	0	GRID2	94225289	0.140000	0.22579	0.649000	0.29536	0.952000	0.60782	3.144000	0.50616	2.553000	0.86117	0.655000	0.94253	TCA		PASS	0.567	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			59	37	59	37	---	---	---	---
EMCN	51705	broad.mit.edu	37	4	101342458	101342458	+	Missense_Mutation	SNP	C	C	A	rs368512837		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:101342458C>A	ENST00000296420.4	-	8	823	c.645G>T	c.(643-645)atG>atT	p.M215I	EMCN_ENST00000511970.1_Missense_Mutation_p.M202I|EMCN_ENST00000305864.3_Intron	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	215						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M215I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CCTTCCAGCACATTCGGTACA	0.358																																						uc003hvr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)ATG>ATT		endomucin isoform 1							94.0	91.0	92.0					4																	101342458		2203	4300	6503	SO:0001583	missense	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101342458C>A	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.645G>T	4.37:g.101342458C>A	ENSP00000296420:p.Met215Ile					EMCN_uc011cel.1_Missense_Mutation_p.M202I|EMCN_uc011cem.1_Intron	p.M215I	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	8	824	-			215			Cytoplasmic (Potential).		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	c.645G>T	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	C	8.962	0.970764	0.18659	.	.	ENSG00000164035	ENST00000296420;ENST00000511970;ENST00000502569	.	.	.	5.36	3.61	0.41365	.	0.385573	0.22592	N	0.058080	T	0.14700	0.0355	N	0.08118	0	0.22710	N	0.998822	B;B	0.21071	0.051;0.021	B;B	0.23852	0.049;0.019	T	0.35025	-0.9805	9	0.02654	T	1	-9.8579	6.75	0.23482	0.0:0.7078:0.0:0.2922	.	202;215	B4E347;Q9ULC0	.;MUCEN_HUMAN	I	215;202;164	.	ENSP00000296420:M215I	M	-	3	0	EMCN	101561481	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.447000	0.21710	0.623000	0.30267	0.655000	0.94253	ATG		PASS	0.358	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		58	33	58	33	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113538950	113538950	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:113538950A>G	ENST00000505019.1	-	6	2373	c.2248T>C	c.(2248-2250)Tgt>Cgt	p.C750R	C4orf21_ENST00000445203.2_Missense_Mutation_p.C719R|C4orf21_ENST00000309071.5_Missense_Mutation_p.C750R	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		750						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.C750R(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGTGCAATACATTCATAGTGA	0.343																																						uc003iau.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2248-2250)TGT>CGT		prematurely terminated mRNA decay factor-like							86.0	92.0	90.0					4																	113538950		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113538950A>G																												ENST00000505019.1:c.2248T>C	4.37:g.113538950A>G	ENSP00000424737:p.Cys750Arg					C4orf21_uc003iaw.2_Missense_Mutation_p.C750R	p.C750R	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	2459	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.2248T>C		.	.	.	.	.	.	.	.	.	.	A	10.82	1.457919	0.26161	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83591	-1.74;1.78;1.36	5.76	-8.57	0.00900	.	1.251330	0.05206	N	0.505785	T	0.67477	0.2897	L	0.31926	0.97	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.08055	0.003;0.003	T	0.51513	-0.8696	10	0.38643	T	0.18	5.3487	3.6899	0.08341	0.4315:0.0986:0.3639:0.106	.	750;750	Q86YA3;G5EA02	CD021_HUMAN;.	R	750;750;719	ENSP00000424737:C750R;ENSP00000309095:C750R;ENSP00000390505:C719R	ENSP00000309095:C750R	C	-	1	0	C4orf21	113758399	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.276000	0.08514	-1.290000	0.02372	0.533000	0.62120	TGT		PASS	0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			97	39	97	39	---	---	---	---
NDNF	79625	broad.mit.edu	37	4	121957867	121957867	+	Missense_Mutation	SNP	C	C	T	rs201892645		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:121957867C>T	ENST00000379692.4	-	4	1785	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	420					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.R420Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCCTTTCAGTCGAACGAGGTA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		22093	0.0		0.001	False		,,,				2504	0.0					uc003idq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1258-1260)CGA>CAA		hypothetical protein LOC79625 precursor							137.0	135.0	136.0					4																	121957867		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121957867C>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1259G>A	4.37:g.121957867C>T	ENSP00000369014:p.Arg420Gln						p.R420Q	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1786	-			420					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1259G>A	CCDS3717.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.22	1.872358	0.33069	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.84	4.05	0.47172	.	0.048330	0.85682	D	0.000000	T	0.35913	0.0948	L	0.39633	1.23	0.58432	D	0.999999	P	0.43857	0.819	B	0.33196	0.159	T	0.16453	-1.0402	9	0.14252	T	0.57	-12.2824	12.3389	0.55083	0.0:0.8598:0.0:0.1402	.	420	Q8TB73	NDNF_HUMAN	Q	420	.	ENSP00000369014:R420Q	R	-	2	0	NDNF	122177317	1.000000	0.71417	0.292000	0.24919	0.793000	0.44817	4.975000	0.63777	1.406000	0.46857	0.655000	0.94253	CGA		PASS	0.418	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		123	81	123	81	---	---	---	---
RXFP1	59350	broad.mit.edu	37	4	159514595	159514595	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:159514595C>A	ENST00000307765.5	+	3	481	c.230C>A	c.(229-231)gCc>gAc	p.A77D	RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000470033.1_Intron|RXFP1_ENST00000423548.1_Missense_Mutation_p.A77D|RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000343542.5_Missense_Mutation_p.A77D	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	77					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.A77D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAATATTTTGCCAGTTACTAC	0.333																																						uc003ipz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GCC>GAC		relaxin/insulin-like family peptide receptor 1							117.0	100.0	105.0					4																	159514595		1818	4086	5904	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159514595C>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.230C>A	4.37:g.159514595C>A	ENSP00000303248:p.Ala77Asp					RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.A77D|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.A77D|RXFP1_uc010iqm.2_Intron|RXFP1_uc011cjf.1_Intron|RXFP1_uc010iqn.2_5'UTR	p.A77D	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	3	312	+	all_hematologic(180;0.24)	Renal(120;0.0854)	77			Extracellular (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.230C>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671637	0.29693	.	.	ENSG00000171509	ENST00000307765;ENST00000423548;ENST00000343542	T;T;T	0.70282	-0.43;-0.41;-0.47	5.49	2.82	0.32997	.	0.833845	0.11215	N	0.587325	T	0.59362	0.2188	M	0.63428	1.95	0.43868	D	0.996474	B;B;B	0.24533	0.105;0.032;0.019	B;B;B	0.22152	0.028;0.038;0.017	T	0.45026	-0.9289	10	0.12430	T	0.62	.	1.7209	0.02911	0.1458:0.4791:0.1413:0.2337	.	77;77;77	B4DGP2;Q9HBX9-4;Q9HBX9	.;.;RXFP1_HUMAN	D	77	ENSP00000303248:A77D;ENSP00000405841:A77D;ENSP00000345889:A77D	ENSP00000303248:A77D	A	+	2	0	RXFP1	159734045	0.014000	0.17966	0.007000	0.13788	0.736000	0.42039	-0.129000	0.10515	0.279000	0.22186	0.557000	0.71058	GCC		PASS	0.333	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		24	25	24	25	---	---	---	---
FAM218A	152756	broad.mit.edu	37	4	165878495	165878495	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:165878495G>T	ENST00000513876.2	+	1	396	c.321G>T	c.(319-321)acG>acT	p.T107T	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	107								p.T107T(1)									CGGCTGTCACGCCACCGAAAT	0.547																																						uc003iqx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(319-321)ACG>ACT		hypothetical protein LOC152756							48.0	46.0	47.0					4																	165878495		2203	4300	6503	SO:0001819	synonymous_variant	152756							g.chr4:165878495G>T	AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 39"""	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.321G>T	4.37:g.165878495G>T						TRIM61_uc003iqw.2_Intron	p.T107T	NM_153027	NP_694572	Q96MZ4	CD039_HUMAN		GBM - Glioblastoma multiforme(119;0.146)	1	396	+	all_hematologic(180;0.221)	Prostate(90;0.109)	107						Silent	SNP	ENST00000513876.2	37	c.321G>T	CCDS3807.1																																																																																				PASS	0.547	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		23	24	23	24	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169392938	169392938	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:169392938A>G	ENST00000511577.1	-	4	471	c.224T>C	c.(223-225)cTt>cCt	p.L75P	DDX60L_ENST00000515088.1_5'UTR|DDX60L_ENST00000505890.1_Missense_Mutation_p.L75P|DDX60L_ENST00000260184.7_Missense_Mutation_p.L75P|SNORA51_ENST00000384442.1_RNA			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	75							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.L75P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTACTCAGAAGATCCACAAG	0.373																																						uc003irq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(223-225)CTT>CCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							105.0	104.0	105.0					4																	169392938		1957	4198	6155	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169392938A>G	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.224T>C	4.37:g.169392938A>G	ENSP00000422423:p.Leu75Pro					DDX60L_uc003irr.1_Missense_Mutation_p.L75P|DDX60L_uc003irt.1_Missense_Mutation_p.L75P	p.L75P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	4	445	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	75					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.224T>C		.	.	.	.	.	.	.	.	.	.	A	13.83	2.352875	0.41700	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505696;ENST00000514748;ENST00000512371	T;T;T	0.35789	1.3;1.3;1.29	4.02	2.83	0.33086	.	0.414923	0.14359	U	0.324587	T	0.53481	0.1799	M	0.67397	2.05	0.09310	N	1	B;D;D	0.89917	0.025;1.0;1.0	B;D;D	0.69142	0.025;0.962;0.935	T	0.39781	-0.9597	10	0.87932	D	0	.	8.6708	0.34149	0.9045:0.0:0.0955:0.0	.	75;75;75	D6RB62;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	P	75	ENSP00000260184:L75P;ENSP00000422423:L75P;ENSP00000422202:L75P	ENSP00000260184:L75P	L	-	2	0	DDX60L	169629513	0.285000	0.24296	0.001000	0.08648	0.069000	0.16628	3.975000	0.56859	0.402000	0.25451	0.383000	0.25322	CTT		PASS	0.373	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		46	50	46	50	---	---	---	---
SH3RF1	57630	broad.mit.edu	37	4	170057544	170057544	+	Silent	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:170057544G>A	ENST00000284637.9	-	5	1334	c.993C>T	c.(991-993)ctC>ctT	p.L331L	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	331					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L331L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGGAGCTGATGAGGACAGGGG	0.562																																						uc003isa.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)	3						c.(991-993)CTC>CTT		SH3 domain containing ring finger 1							178.0	172.0	174.0					4																	170057544		2203	4300	6503	SO:0001819	synonymous_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170057544G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.993C>T	4.37:g.170057544G>A						SH3RF1_uc010irc.1_Missense_Mutation_p.H54Y	p.L331L	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	5	1328	-		Prostate(90;0.00267)|Renal(120;0.0183)	331					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	c.993C>T	CCDS34099.1																																																																																				PASS	0.562	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		97	145	97	145	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	163559	163559	+	Silent	SNP	G	G	T	rs114260538	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:163559G>T	ENST00000283426.6	+	11	2354	c.2304G>T	c.(2302-2304)ccG>ccT	p.P768P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	768							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P768P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCCGCTGTGGCAGC	0.652																																						uc003jak.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(2302-2304)CCG>CCT		pleckstrin homology domain containing, family G							34.0	40.0	38.0					5																	163559		2202	4298	6500	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163559G>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2304G>T	5.37:g.163559G>T							p.P768P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2354	+			768						Silent	SNP	ENST00000283426.6	37	c.2304G>T	CCDS34124.1																																																																																				PASS	0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		19	15	19	15	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19473725	19473725	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:19473725T>G	ENST00000507958.1	-	15	2973	c.1983A>C	c.(1981-1983)gaA>gaC	p.E661D	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.E661D|CDH18_ENST00000274170.4_Missense_Mutation_p.E661D|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	661					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E661D(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTCCGCCTCCTTCATCATCAT	0.498																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1981-1983)GAA>GAC		cadherin 18, type 2 preproprotein							154.0	155.0	155.0					5																	19473725		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473725T>G	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1983A>C	5.37:g.19473725T>G	ENSP00000425093:p.Glu661Asp					CDH18_uc003jgd.2_Missense_Mutation_p.E661D|CDH18_uc011cnm.1_3'UTR	p.E661D	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2360	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		661			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1983A>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098672	0.56183	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.81821	-1.54;-1.54;-1.54	6.16	-2.15	0.07102	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	M	0.92026	3.265	0.42295	D	0.992152	B	0.31581	0.329	B	0.39738	0.308	T	0.80522	-0.1345	9	.	.	.	.	12.8166	0.57669	0.0:0.4334:0.0:0.5666	.	661	Q13634	CAD18_HUMAN	D	661	ENSP00000371710:E661D;ENSP00000425093:E661D;ENSP00000274170:E661D	.	E	-	3	2	CDH18	19509482	0.284000	0.24287	0.728000	0.30774	0.266000	0.26442	-0.245000	0.08890	-0.268000	0.09312	-0.182000	0.12963	GAA		PASS	0.498	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		76	109	76	109	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24537623	24537623	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:24537623G>T	ENST00000264463.4	-	3	899	c.392C>A	c.(391-393)gCt>gAt	p.A131D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A131D(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTGTTAATAGCTTGTGCGCG	0.403										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(391-393)GCT>GAT		cadherin 10, type 2 preproprotein							157.0	146.0	150.0					5																	24537623		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537623G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.392C>A	5.37:g.24537623G>T	ENSP00000264463:p.Ala131Asp	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.A131D	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	724	-			131			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.392C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061004	0.76074	.	.	ENSG00000040731	ENST00000264463	T	0.71934	-0.61	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.050506	0.85682	D	0.000000	D	0.88855	0.6550	M	0.94101	3.495	0.48341	D	0.99963	D	0.89917	1.0	D	0.97110	1.0	D	0.90982	0.4828	10	0.87932	D	0	.	19.0796	0.93177	0.0:0.0:1.0:0.0	.	131	Q9Y6N8	CAD10_HUMAN	D	131	ENSP00000264463:A131D	ENSP00000264463:A131D	A	-	2	0	CDH10	24573380	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.964000	0.70379	2.758000	0.94735	0.557000	0.71058	GCT		PASS	0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		28	116	28	116	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26903886	26903886	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:26903886G>A	ENST00000231021.4	-	6	1031	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	287	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L287F(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCCTTCCAAGATGAGTTCCA	0.378																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(859-861)CTT>TTT		cadherin 9, type 2 preproprotein							173.0	153.0	160.0					5																	26903886		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903886G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.859C>T	5.37:g.26903886G>A	ENSP00000231021:p.Leu287Phe					CDH9_uc010iug.2_Missense_Mutation_p.L287F	p.L287F	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	1028	-			287			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.859C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.985042	0.53934	.	.	ENSG00000113100	ENST00000231021	T	0.54279	0.58	5.77	4.9	0.64082	Cadherin (3);Cadherin-like (1);	0.396512	0.26366	N	0.024791	T	0.51822	0.1697	L	0.55103	1.725	0.36091	D	0.843424	B	0.20261	0.043	B	0.33799	0.17	T	0.56565	-0.7958	9	.	.	.	.	13.0766	0.59091	0.0:0.0:0.7082:0.2918	.	287	Q9ULB4	CADH9_HUMAN	F	287	ENSP00000231021:L287F	.	L	-	1	0	CDH9	26939643	0.012000	0.17670	0.999000	0.59377	0.986000	0.74619	0.113000	0.15499	1.561000	0.49584	0.655000	0.94253	CTT		PASS	0.378	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		20	108	20	108	---	---	---	---
TTC33	23548	broad.mit.edu	37	5	40716530	40716530	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:40716530G>A	ENST00000337702.4	-	5	658	c.506C>T	c.(505-507)tCt>tTt	p.S169F	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	169								p.S169F(1)		NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TCTTGCCCAAGAGAGGTCTTC	0.408																																						uc003jma.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(505-507)TCT>TTT		tetratricopeptide repeat domain 33							140.0	139.0	140.0					5																	40716530		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40716530G>A	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.506C>T	5.37:g.40716530G>A	ENSP00000338533:p.Ser169Phe					TTC33_uc011cpm.1_Missense_Mutation_p.S61F|TTC33_uc010ivg.2_3'UTR	p.S169F	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN			5	654	-			169					B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.506C>T	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065452	0.76187	.	.	ENSG00000113638	ENST00000337702	T	0.34072	1.38	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.365383	0.32459	N	0.006078	T	0.41396	0.1157	L	0.51422	1.61	0.44807	D	0.997814	D	0.62365	0.991	P	0.51999	0.687	T	0.10291	-1.0636	10	0.09843	T	0.71	-18.0616	14.8425	0.70235	0.0:0.0:0.8562:0.1438	.	169	Q6PID6	TTC33_HUMAN	F	169	ENSP00000338533:S169F	ENSP00000338533:S169F	S	-	2	0	TTC33	40752287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.706000	0.61845	2.729000	0.93468	0.650000	0.86243	TCT		PASS	0.408	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		101	115	101	115	---	---	---	---
RAB3C	115827	broad.mit.edu	37	5	58021831	58021831	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:58021831C>G	ENST00000282878.4	+	3	424	c.255C>G	c.(253-255)gaC>gaG	p.D85E	RAB3C_ENST00000507977.1_3'UTR	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	85					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.D85E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTCTTTAGGACACAGCAGGCC	0.338																																						uc003jrp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(253-255)GAC>GAG		RAB3C, member RAS oncogene family							127.0	124.0	125.0					5																	58021831		2203	4299	6502	SO:0001583	missense	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:58021831C>G	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.255C>G	5.37:g.58021831C>G	ENSP00000282878:p.Asp85Glu						p.D85E	NM_138453	NP_612462	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	3	352	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	85			GTP (By similarity).			Missense_Mutation	SNP	ENST00000282878.4	37	c.255C>G	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059050	0.55325	.	.	ENSG00000152932	ENST00000282878	D	0.93076	-3.16	5.4	0.413	0.16401	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000014	D	0.97034	0.9031	H	0.95780	3.72	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95465	0.8546	10	0.87932	D	0	-25.7348	9.6343	0.39798	0.0:0.6453:0.0:0.3547	.	85	Q96E17	RAB3C_HUMAN	E	85	ENSP00000282878:D85E	ENSP00000282878:D85E	D	+	3	2	RAB3C	58057588	0.998000	0.40836	0.993000	0.49108	0.540000	0.34992	0.731000	0.26058	-0.238000	0.09724	-0.362000	0.07510	GAC		PASS	0.338	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		43	79	43	79	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71491608	71491608	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:71491608T>A	ENST00000296755.7	+	5	2724	c.2426T>A	c.(2425-2427)aTg>aAg	p.M809K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	809					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.M809K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAGCTGTCATGGCGGCAGCT	0.537																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(2425-2427)ATG>AAG		microtubule-associated protein 1B							37.0	41.0	39.0					5																	71491608		2163	4181	6344	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491608T>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2426T>A	5.37:g.71491608T>A	ENSP00000296755:p.Met809Lys					MAP1B_uc010iyw.1_Missense_Mutation_p.M826K|MAP1B_uc010iyx.1_Missense_Mutation_p.M683K|MAP1B_uc010iyy.1_Missense_Mutation_p.M683K	p.M809K	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2667	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	809					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2426T>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.436991	0.00182	.	.	ENSG00000131711	ENST00000296755	T	0.02709	4.19	5.14	-2.39	0.06602	.	1.316270	0.05422	N	0.544435	T	0.01287	0.0042	N	0.01168	-0.975	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48714	-0.9011	10	0.35671	T	0.21	0.7986	8.2364	0.31629	0.0:0.4484:0.1078:0.4437	.	683;809	A2BDK6;P46821	.;MAP1B_HUMAN	K	809	ENSP00000296755:M809K	ENSP00000296755:M809K	M	+	2	0	MAP1B	71527364	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.710000	0.05024	-0.505000	0.06568	0.443000	0.29094	ATG		PASS	0.537	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		7	1	7	1	---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75950040	75950040	+	Nonsense_Mutation	SNP	C	C	T	rs373704383		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:75950040C>T	ENST00000274364.6	+	19	2491	c.2194C>T	c.(2194-2196)Cga>Tga	p.R732*	IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.R234*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.R228*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.R228*	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	732	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.R732*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTCCTGGTTCCGAATGGCAAC	0.348																																						uc003kek.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(2194-2196)CGA>TGA		IQ motif containing GTPase activating protein 2		C	stop/ARG	0,4402		0,0,2201	67.0	67.0	67.0		2194	3.8	1.0	5		67	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	IQGAP2	NM_006633.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		732/1576	75950040	1,13001	2201	4300	6501	SO:0001587	stop_gained	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75950040C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2194C>T	5.37:g.75950040C>T	ENSP00000274364:p.Arg732*					IQGAP2_uc010izv.2_Nonsense_Mutation_p.R285*|IQGAP2_uc011csv.1_Nonsense_Mutation_p.R228*|IQGAP2_uc003kel.2_Nonsense_Mutation_p.R228*	p.R732*	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	19	2416	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	732			IQ 2.		A8K4V1|B7Z8A4|J3KR91	Nonsense_Mutation	SNP	ENST00000274364.6	37	c.2194C>T	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	38	6.754573	0.97813	0.0	1.16E-4	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	.	.	.	4.78	3.84	0.44239	.	0.111229	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2089	10.8701	0.46879	0.3786:0.6214:0.0:0.0	.	.	.	.	X	732;234;705;682;285;228;285;228	.	ENSP00000274364:R732X	R	+	1	2	IQGAP2	75985796	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.971000	0.49248	2.368000	0.80403	0.585000	0.79938	CGA		PASS	0.348	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		15	74	15	74	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140262150	140262150	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:140262150C>T	ENST00000289272.2	+	1	297	c.297C>T	c.(295-297)agC>agT	p.S99S	PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.S99S|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S99S(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGGAGCGCGGAGTGCA	0.557																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(295-297)AGC>AGT		protocadherin alpha 13 isoform 1 precursor							127.0	138.0	135.0					5																	140262150		2203	4298	6501	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262150C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.297C>T	5.37:g.140262150C>T						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_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S99S|PCDHA13_uc003lid.2_Silent_p.S99S	p.S99S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	297	+			99			Cadherin 1.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.297C>T	CCDS4240.1																																																																																				PASS	0.557	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		46	194	46	194	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150928931	150928931	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:150928931T>C	ENST00000261800.5	-	8	4726	c.4714A>G	c.(4714-4716)Aca>Gca	p.T1572A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1572	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1572A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGCTCTGTGCCGGGGGCT	0.592																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(4714-4716)ACA>GCA		FAT tumor suppressor 2 precursor							59.0	53.0	55.0					5																	150928931		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150928931T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4714A>G	5.37:g.150928931T>C	ENSP00000261800:p.Thr1572Ala					GM2A_uc011dcs.1_Intron	p.T1572A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	4727	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1572			Extracellular (Potential).|Cadherin 14.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4714A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.410834	0.25465	.	.	ENSG00000086570	ENST00000261800	T	0.57107	0.42	5.13	1.42	0.22433	Cadherin (3);Cadherin-like (1);	0.189392	0.37012	N	0.002283	T	0.45955	0.1368	M	0.66297	2.02	0.47037	D	0.99929	B	0.16603	0.018	B	0.25759	0.063	T	0.33979	-0.9847	10	0.56958	D	0.05	.	4.3166	0.10997	0.1356:0.224:0.0:0.6404	.	1572	Q9NYQ8	FAT2_HUMAN	A	1572	ENSP00000261800:T1572A	ENSP00000261800:T1572A	T	-	1	0	FAT2	150909124	1.000000	0.71417	0.968000	0.41197	0.309000	0.27889	1.663000	0.37429	0.010000	0.14839	0.459000	0.35465	ACA		PASS	0.592	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	28	4	28	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169145667	169145667	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr5:169145667G>T	ENST00000256935.8	+	22	2219	c.2139G>T	c.(2137-2139)ttG>ttT	p.L713F	DOCK2_ENST00000520908.1_Missense_Mutation_p.L205F|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	713					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.L713F(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)			TCAGGAAATTGATGACAGTGC	0.373																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(2137-2139)TTG>TTT		dedicator of cytokinesis 2							105.0	94.0	97.0					5																	169145667		2203	4300	6503	SO:0001583	missense	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.chr5:169145667G>T	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.2139G>T	5.37:g.169145667G>T	ENSP00000256935:p.Leu713Phe					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L205F	p.L713F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		22	2219	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	713					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2139G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096544	0.56075	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.72167	-0.63;-0.63	5.58	3.79	0.43588	.	0.070277	0.64402	D	0.000020	T	0.81908	0.4922	M	0.87900	2.915	0.80722	D	1	D;D	0.67145	0.996;0.986	P;P	0.62649	0.905;0.722	T	0.81662	-0.0831	10	0.87932	D	0	.	7.1331	0.25512	0.3754:0.0:0.6246:0.0	.	205;713	E7ERW7;Q92608	.;DOCK2_HUMAN	F	713;205	ENSP00000256935:L713F;ENSP00000429283:L205F	ENSP00000256935:L713F	L	+	3	2	DOCK2	169078245	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	1.036000	0.30228	0.725000	0.32318	0.644000	0.83932	TTG		PASS	0.373	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		20	28	20	28	---	---	---	---
NRN1	51299	broad.mit.edu	37	6	5999430	5999430	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:5999430C>G	ENST00000244766.2	-	3	425	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	70					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)		p.E70Q(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TGGAAATCCTCCCAGTATCTG	0.557																																						uc003mwu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GAG>CAG		neuritin precursor							64.0	56.0	59.0					6																	5999430		2203	4300	6503	SO:0001583	missense	51299					anchored to membrane|plasma membrane		g.chr6:5999430C>G	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.208G>C	6.37:g.5999430C>G	ENSP00000244766:p.Glu70Gln					NRN1_uc003mwt.2_Missense_Mutation_p.E96Q	p.E70Q	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	3	859	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	70					B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	c.208G>C	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522764	0.64747	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.12	4.12	0.48240	.	0.252963	0.36555	N	0.002533	T	0.28034	0.0691	N	0.19112	0.55	0.45239	D	0.998245	P	0.40476	0.718	B	0.38616	0.277	T	0.38329	-0.9666	9	0.72032	D	0.01	-14.1483	16.2224	0.82265	0.0:1.0:0.0:0.0	.	70	Q9NPD7	NRN1_HUMAN	Q	70	.	ENSP00000244766:E70Q	E	-	1	0	NRN1	5944429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.046000	0.76592	2.217000	0.71921	0.563000	0.77884	GAG		PASS	0.557	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			18	39	18	39	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17649457	17649457	+	Silent	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:17649457A>G	ENST00000262077.2	-	12	1469	c.1470T>C	c.(1468-1470)agT>agC	p.S490S	NUP153_ENST00000537253.1_Silent_p.S521S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	490					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.S490S(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TCTCAGGGGAACTAAAATTAA	0.368																																						uc003ncd.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(1468-1470)AGT>AGC		nucleoporin 153kDa							199.0	192.0	194.0					6																	17649457		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17649457A>G	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1470T>C	6.37:g.17649457A>G						NUP153_uc011dje.1_Silent_p.S521S|NUP153_uc010jpl.1_Silent_p.S490S	p.S490S	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		12	1670	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	490					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.1470T>C	CCDS4541.1																																																																																				PASS	0.368	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			31	124	31	124	---	---	---	---
SLC17A4	10050	broad.mit.edu	37	6	25773531	25773531	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:25773531C>T	ENST00000377905.4	+	7	854	c.735C>T	c.(733-735)ctC>ctT	p.L245L	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	245					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.L245L(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTGTCCTCTCTGGTTTCCTC	0.433																																						uc003nfe.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(733-735)CTC>CTT		solute carrier family 17 (sodium phosphate),							277.0	237.0	250.0					6																	25773531		2203	4300	6503	SO:0001819	synonymous_variant	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25773531C>T	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.735C>T	6.37:g.25773531C>T						SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.2_Silent_p.L182L|SLC17A4_uc010jqa.2_5'Flank	p.L245L	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			7	854	+			245			Helical; (Potential).		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	c.735C>T	CCDS4564.1																																																																																				PASS	0.433	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			26	94	26	94	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31929803	31929803	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:31929803A>G	ENST00000375394.2	+	10	1149	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	NELFE_ENST00000375429.3_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.I153V	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	346	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.I346V(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGAATATGCCATTGCCCTGGC	0.502																																						uc003nyn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1036-1038)ATT>GTT		superkiller viralicidic activity 2-like homolog							120.0	109.0	113.0					6																	31929803		1511	2709	4220	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31929803A>G		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.1036A>G	6.37:g.31929803A>G	ENSP00000364543:p.Ile346Val					RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Missense_Mutation_p.I188V|SKIV2L_uc011dov.1_Missense_Mutation_p.I153V	p.I346V	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			10	1425	+			346			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1036A>G	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049244	0.75846	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.14022	2.54;2.54	5.73	4.55	0.56014	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	L	0.50847	1.595	0.58432	D	0.999994	P	0.48089	0.905	B	0.43331	0.416	T	0.03354	-1.1045	10	0.72032	D	0.01	-15.6859	11.2674	0.49118	0.8628:0.0:0.0:0.1372	.	346	Q15477	SKIV2_HUMAN	V	346;188;153	ENSP00000364543:I346V;ENSP00000442645:I153V	ENSP00000364543:I346V	I	+	1	0	SKIV2L	32037782	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.573000	0.74009	0.977000	0.38444	0.533000	0.62120	ATT		PASS	0.502	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			31	42	31	42	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38790651	38790651	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:38790651G>T	ENST00000359357.3	+	25	3164	c.2910G>T	c.(2908-2910)aaG>aaT	p.K970N	DNAH8_ENST00000441566.1_Missense_Mutation_p.K970N|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.K1187N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	970					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K970N(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAAGCTGAAGAATTTTTACC	0.388																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(2908-2910)AAG>AAT		dynein, axonemal, heavy polypeptide 8							46.0	48.0	47.0					6																	38790651		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790651G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2910G>T	6.37:g.38790651G>T	ENSP00000352312:p.Lys970Asn						p.K970N	NM_001371	NP_001362					25	3510	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2910G>T		.	.	.	.	.	.	.	.	.	.	G	14.07	2.424940	0.43020	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26518	1.77;1.77;1.73	5.36	4.48	0.54585	.	0.378221	0.30419	N	0.009666	T	0.07052	0.0179	N	0.24115	0.695	0.42064	D	0.99117	P	0.36465	0.554	B	0.37780	0.258	T	0.12502	-1.0545	10	0.14252	T	0.57	.	7.7169	0.28710	0.1776:0.0:0.8224:0.0	.	970	Q96JB1	DYH8_HUMAN	N	1175;1175;970;970	ENSP00000333363:K1175N;ENSP00000352312:K970N;ENSP00000402294:K970N	ENSP00000333363:K1175N	K	+	3	2	DNAH8	38898629	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.365000	0.44196	2.665000	0.90641	0.563000	0.77884	AAG		PASS	0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		12	35	12	35	---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42625796	42625796	+	Missense_Mutation	SNP	A	A	G	rs138557643		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:42625796A>G	ENST00000372899.1	+	27	3165	c.2907A>G	c.(2905-2907)atA>atG	p.I969M	UBR2_ENST00000372883.3_Missense_Mutation_p.I473M|UBR2_ENST00000372901.1_Missense_Mutation_p.I969M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	969					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I969M(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CTCCTAGCATACTAGCTATGC	0.393																																						uc011dur.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2905-2907)ATA>ATG		ubiquitin protein ligase E3 component n-recognin		A	MET/ILE	1,4405	2.1+/-5.4	0,1,2202	191.0	197.0	195.0		2907	-2.5	0.4	6	dbSNP_134	195	0,8600		0,0,4300	no	missense	UBR2	NM_015255.2	10	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	969/1756	42625796	1,13005	2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42625796A>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2907A>G	6.37:g.42625796A>G	ENSP00000361990:p.Ile969Met					UBR2_uc011dus.1_Missense_Mutation_p.I614M|UBR2_uc003osh.2_RNA	p.I969M	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		27	2907	+	Colorectal(47;0.196)		969					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2907A>G	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.340820	0.60963	2.27E-4	0.0	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.56103	0.48;0.48;0.48	5.61	-2.51	0.06365	.	0.044478	0.85682	D	0.000000	T	0.52500	0.1738	M	0.78637	2.42	0.58432	D	0.999997	D;P	0.59357	0.985;0.864	P;P	0.59889	0.865;0.493	T	0.61530	-0.7044	10	0.87932	D	0	-7.1173	10.4717	0.44640	0.2963:0.5621:0.0:0.1417	.	969;969	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	M	969;969;473	ENSP00000361990:I969M;ENSP00000361992:I969M;ENSP00000361974:I473M	ENSP00000361974:I473M	I	+	3	3	UBR2	42733774	0.847000	0.29606	0.403000	0.26384	0.661000	0.39034	0.132000	0.15891	-0.704000	0.05042	0.460000	0.39030	ATA		PASS	0.393	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		197	158	197	158	---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43498432	43498432	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:43498432T>A	ENST00000265351.7	-	23	2881	c.2671A>T	c.(2671-2673)Atg>Ttg	p.M891L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	891					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.M891L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ATATGAAGCATGGGTCTGAGT	0.448																																						uc003ovp.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)|kidney(1)	4						c.(2671-2673)ATG>TTG		exportin 5							109.0	104.0	105.0					6																	43498432		1914	4137	6051	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43498432T>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2671A>T	6.37:g.43498432T>A	ENSP00000265351:p.Met891Leu						p.M891L	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		23	2882	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		891					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2671A>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597877	0.46318	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.23950	1.88	5.83	3.24	0.37175	Armadillo-like helical (1);Armadillo-type fold (1);	0.275863	0.45361	N	0.000367	T	0.02649	0.0080	N	0.04203	-0.255	0.38568	D	0.949876	B	0.02656	0.0	B	0.01281	0.0	T	0.41052	-0.9530	10	0.02654	T	1	.	8.2423	0.31667	0.1219:0.0:0.2458:0.6324	.	891	Q9HAV4	XPO5_HUMAN	L	891;596;431;519	ENSP00000265351:M891L	ENSP00000265351:M891L	M	-	1	0	XPO5	43606410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.370000	0.34238	0.986000	0.38683	0.482000	0.46254	ATG		PASS	0.448	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		17	126	17	126	---	---	---	---
SLC29A1	2030	broad.mit.edu	37	6	44199199	44199199	+	Splice_Site	SNP	G	G	C	rs75037270		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:44199199G>C	ENST00000393841.1	+	10	1355		c.e10+1		SLC29A1_ENST00000371708.1_Splice_Site|SLC29A1_ENST00000371713.1_Splice_Site|SLC29A1_ENST00000371724.1_Splice_Site|SLC29A1_ENST00000371740.5_Splice_Site|SLC29A1_ENST00000313248.7_Splice_Site|SLC29A1_ENST00000371755.3_Splice_Site|SLC29A1_ENST00000472176.1_Splice_Site|SLC29A1_ENST00000427851.2_Splice_Site|SLC29A1_ENST00000371731.1_Splice_Site|SLC29A1_ENST00000393844.1_Splice_Site	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1						cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CCTGAAAAATGTACGTAGGGG	0.512																																						uc003owu.1																			1	Unknown(1)		lung(1)	large_intestine(2)|skin(1)	3						c.e9+1		equilibrative nucleoside transporter 1	Troglitazone(DB00197)						106.0	86.0	93.0					6																	44199199		2203	4300	6503	SO:0001630	splice_region_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44199199G>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.864+1G>C	6.37:g.44199199G>C						SLC29A1_uc003owv.1_Splice_Site_p.N288_splice|SLC29A1_uc003oww.1_Splice_Site_p.N367_splice|SLC29A1_uc003owx.1_Splice_Site_p.N288_splice|SLC29A1_uc003owy.1_Splice_Site_p.N288_splice|SLC29A1_uc003owz.1_Splice_Site_p.N288_splice	p.N288_splice	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1193	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)							B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Splice_Site	SNP	ENST00000393841.1	37	c.864_splice	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822732	0.32237	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1425	0.65329	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC29A1	44307177	0.997000	0.39634	0.083000	0.20561	0.042000	0.13812	4.333000	0.59285	2.485000	0.83878	0.563000	0.77884	.		PASS	0.512	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1		Intron	9	34	9	34	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51613404	51613404	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:51613404C>G	ENST00000371117.3	-	58	9285	c.9010G>C	c.(9010-9012)Gtt>Ctt	p.V3004L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V3004L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3004					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V3004L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGAATTCAACAGATGAGTAC	0.458																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(9010-9012)GTT>CTT		fibrocystin isoform 1							83.0	85.0	84.0					6																	51613404		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613404C>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9010G>C	6.37:g.51613404C>G	ENSP00000360158:p.Val3004Leu					PKHD1_uc010jzn.1_Missense_Mutation_p.V987L|PKHD1_uc003pai.2_Missense_Mutation_p.V3004L	p.V3004L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			58	9286	-	Lung NSC(77;0.0605)		3004			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9010G>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	5.788	0.329728	0.10956	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87412	-2.06;-2.25	5.67	3.32	0.38043	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.168794	0.43416	D	0.000571	T	0.67249	0.2873	L	0.36672	1.1	0.22842	N	0.998662	B;B;B	0.30793	0.125;0.03;0.295	B;B;B	0.37833	0.109;0.033;0.259	T	0.57740	-0.7759	10	0.17369	T	0.5	.	8.2322	0.31605	0.0:0.3131:0.0:0.6869	.	3004;3004;3004	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3004	ENSP00000360158:V3004L;ENSP00000341097:V3004L	ENSP00000341097:V3004L	V	-	1	0	PKHD1	51721363	0.778000	0.28640	0.880000	0.34516	0.002000	0.02628	0.141000	0.16076	0.438000	0.26450	-0.312000	0.09012	GTT		PASS	0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		94	148	94	148	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70049245	70049245	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:70049245G>T	ENST00000370598.1	+	26	4129	c.3308G>T	c.(3307-3309)tGt>tTt	p.C1103F	BAI3_ENST00000238918.8_Missense_Mutation_p.C309F|BAI3_ENST00000546190.1_Missense_Mutation_p.C67F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1103					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C1103F(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGAGCTCCTGTGTGGTGTTG	0.468																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3307-3309)TGT>TTT		brain-specific angiogenesis inhibitor 3							279.0	259.0	266.0					6																	70049245		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049245G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3308G>T	6.37:g.70049245G>T	ENSP00000359630:p.Cys1103Phe					BAI3_uc010kak.2_Missense_Mutation_p.C1103F|BAI3_uc011dxx.1_Missense_Mutation_p.C309F|BAI3_uc003pex.1_Missense_Mutation_p.C233F	p.C1103F	NM_001704	NP_001695	O60242	BAI3_HUMAN			26	3756	+		all_lung(197;0.212)	1103			Helical; Name=6; (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3308G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292073	0.80914	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.41065	1.26;1.26;1.01	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	L	0.33137	0.985	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.91635	0.996;0.995;0.999	T	0.13045	-1.0524	10	0.23302	T	0.38	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	309;1103;1103	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	F	1103;309;67	ENSP00000359630:C1103F;ENSP00000238918:C309F;ENSP00000441821:C67F	ENSP00000238918:C309F	C	+	2	0	BAI3	70105966	1.000000	0.71417	0.982000	0.44146	0.783000	0.44284	9.869000	0.99810	2.708000	0.92522	0.650000	0.86243	TGT		PASS	0.468	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			166	187	166	187	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80750394	80750394	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:80750394C>T	ENST00000369798.2	+	21	2575	c.2464C>T	c.(2464-2466)Cct>Tct	p.P822S	TTK_ENST00000230510.3_Missense_Mutation_p.P821S|TTK_ENST00000509894.1_Missense_Mutation_p.P821S	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	822					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.P822S(1)|p.P806S(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TCTGAATTCTCCTAACTCCAT	0.318																																						uc003pjc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(2464-2466)CCT>TCT		TTK protein kinase							106.0	113.0	111.0					6																	80750394		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80750394C>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2464C>T	6.37:g.80750394C>T	ENSP00000358813:p.Pro822Ser					TTK_uc003pjb.3_Missense_Mutation_p.P821S	p.P822S	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	21	2538	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	822					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.2464C>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.453303	0.84209	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.68479	-0.33;-0.33;-0.33	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75130	-0.3426	10	0.52906	T	0.07	.	17.0768	0.86588	0.0:1.0:0.0:0.0	.	822;821	P33981;A8K8U5	TTK_HUMAN;.	S	821;821;822	ENSP00000422936:P821S;ENSP00000230510:P821S;ENSP00000358813:P822S	ENSP00000230510:P821S	P	+	1	0	TTK	80807113	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.213000	0.72194	2.780000	0.95670	0.655000	0.94253	CCT		PASS	0.318	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			4	114	4	114	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86324670	86324670	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:86324670C>T	ENST00000369622.3	-	11	2176	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	RP11-321N4.5_ENST00000503906.1_Intron|SYNCRIP_ENST00000355238.6_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	559	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G559E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCCTACATTTCCACCGCGGCC	0.597																																						uc003pla.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1675-1677)GGA>GAA		synaptotagmin binding, cytoplasmic RNA							145.0	148.0	147.0					6																	86324670		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324670C>T	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1676G>A	6.37:g.86324670C>T	ENSP00000358635:p.Gly559Glu					SYNCRIP_uc003pku.2_Intron|SYNCRIP_uc003pkw.2_Intron|SYNCRIP_uc003pky.2_Intron|SYNCRIP_uc003pkv.2_Intron|SYNCRIP_uc003pkx.2_Intron|SYNCRIP_uc003pkz.2_Missense_Mutation_p.G524E	p.G559E	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	2217	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	559			1-8.|Interaction with APOBEC1.|8 X 3 AA repeats of R-G-G.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1676G>A	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571417	0.45798	.	.	ENSG00000135316	ENST00000369622	T	0.29142	1.58	5.43	4.54	0.55810	.	0.411591	0.28630	N	0.014671	T	0.27697	0.0681	L	0.58101	1.795	0.80722	D	1	P;D	0.57257	0.935;0.979	B;P	0.48189	0.366;0.57	T	0.09997	-1.0649	10	0.62326	D	0.03	.	15.9627	0.79941	0.0:0.8647:0.1353:0.0	.	559;524	O60506;O60506-2	HNRPQ_HUMAN;.	E	559	ENSP00000358635:G559E	ENSP00000358635:G559E	G	-	2	0	SYNCRIP	86381389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	1.238000	0.43771	0.563000	0.77884	GGA		PASS	0.597	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		79	208	79	208	---	---	---	---
SMIM8	57150	broad.mit.edu	37	6	88046835	88046835	+	Missense_Mutation	SNP	G	G	A	rs140990223		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:88046835G>A	ENST00000392863.1	+	3	175	c.86G>A	c.(85-87)cGc>cAc	p.R29H	RP1-102H19.8_ENST00000448282.2_Missense_Mutation_p.R29H|SMIM8_ENST00000608525.1_Missense_Mutation_p.R29H|SMIM8_ENST00000608868.1_Missense_Mutation_p.R29H|SMIM8_ENST00000608353.1_Missense_Mutation_p.R29H|SMIM8_ENST00000229570.5_Missense_Mutation_p.R29H	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	29						integral component of membrane (GO:0016021)		p.R29H(1)									AGAGGGGTGCGCACAACAACC	0.438																																						uc003plp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)CGC>CAC		hypothetical protein LOC57150		G	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	109.0	109.0	109.0		86,86	2.2	0.2	6	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	C6orf162	NM_001042493.1,NM_020425.4	29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	29/98,29/98	88046835	3,13003	2203	4300	6503	SO:0001583	missense	57150					integral to membrane		g.chr6:88046835G>A	AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 162"""	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.86G>A	6.37:g.88046835G>A	ENSP00000376603:p.Arg29His					C6orf164_uc003plr.2_RNA|C6orf162_uc003plq.1_Missense_Mutation_p.R29H	p.R29H	NM_001042493	NP_001035958	Q96KF7	CF162_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0164)	3	175	+		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)	29					B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	ENST00000392863.1	37	c.86G>A	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887815	0.33348	6.81E-4	0.0	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	5.91	2.15	0.27550	.	0.649384	0.16316	N	0.219797	T	0.17408	0.0418	.	.	.	0.19300	N	0.999978	B	0.06786	0.001	B	0.04013	0.001	T	0.24799	-1.0150	8	0.51188	T	0.08	-2.9551	9.5538	0.39326	0.4145:0.0:0.5855:0.0	.	29	Q96KF7	CF162_HUMAN	H	29	.	ENSP00000229570:R29H	R	+	2	0	C6orf162	88103554	0.705000	0.27846	0.223000	0.23860	0.841000	0.47740	0.945000	0.29056	0.110000	0.17919	-0.140000	0.14226	CGC		PASS	0.438	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472479.2	NM_020425		17	137	17	137	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90497611	90497611	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:90497611C>T	ENST00000369393.3	-	8	1411	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L	MDN1_ENST00000428876.1_Silent_p.L432L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	432					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L432L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGCCACTTTCAGACAGTCAC	0.453																																						uc003pnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(1294-1296)CTG>CTA		MDN1, midasin homolog							100.0	94.0	96.0					6																	90497611		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90497611C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1296G>A	6.37:g.90497611C>T						MDN1_uc003pno.1_5'Flank|MDN1_uc003pnp.1_Silent_p.L432L	p.L432L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	8	1412	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	432					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.1296G>A	CCDS5024.1																																																																																				PASS	0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			35	37	35	37	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90575901	90575901	+	RNA	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:90575901G>A	ENST00000551025.1	+	0	4329									caspase 8 associated protein 2									p.R964R(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)		CTGATGTGCGGAAGTCAAAGA	0.363																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2890-2892)CGG>CGA		caspase 8 associated protein 2							43.0	42.0	42.0					6																	90575901		1877	4108	5985			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.chr6:90575901G>A	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.90575901G>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.R964R|CASP8AP2_uc011dzz.1_Silent_p.R964R	p.R964R	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	3088	+		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)	964						Silent	SNP	ENST00000551025.1	37	c.2892G>A																																																																																					PASS	0.363	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		14	10	14	10	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100368871	100368871	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:100368871C>A	ENST00000281806.2	-	6	1282	c.968G>T	c.(967-969)aGa>aTa	p.R323I	MCHR2_ENST00000369212.2_Missense_Mutation_p.R323I	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R323I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCAGTCGCTCTTCTTTGGAT	0.423																																						uc003pqh.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(967-969)AGA>ATA		melanin-concentrating hormone receptor 2							149.0	156.0	154.0					6																	100368871		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100368871C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.968G>T	6.37:g.100368871C>A	ENSP00000281806:p.Arg323Ile					MCHR2_uc003pqi.1_Missense_Mutation_p.R323I	p.R323I	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	6	1283	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	323			Cytoplasmic (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.968G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315743	0.10789	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.39229	1.09;1.09;1.09	5.47	-0.507	0.11985	.	0.500368	0.17768	N	0.162675	T	0.08313	0.0207	N	0.08118	0	0.28514	N	0.913395	B	0.25719	0.132	B	0.27715	0.082	T	0.28964	-1.0027	10	0.39692	T	0.17	.	9.8465	0.41030	0.0:0.4325:0.0:0.5675	.	323	Q969V1	MCHR2_HUMAN	I	323	ENSP00000403490:R323I;ENSP00000281806:R323I;ENSP00000358214:R323I	ENSP00000281806:R323I	R	-	2	0	MCHR2	100475592	0.001000	0.12720	0.002000	0.10522	0.042000	0.13812	-0.132000	0.10467	-0.338000	0.08413	-0.137000	0.14449	AGA		PASS	0.423	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		33	106	33	106	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109980541	109980541	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:109980541C>T	ENST00000424296.2	-	7	596	c.520G>A	c.(520-522)Gac>Aac	p.D174N	AK9_ENST00000285397.5_Missense_Mutation_p.D174N|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.D174N	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	174	Adenylate kinase 1.|LID 1. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.D174N(2)									TCCCACTGGTCTCTACTGTAT	0.398																																						uc003ptn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(520-522)GAC>AAC		adenylate kinase domain containing 1 isoform 1							148.0	135.0	140.0					6																	109980541		2203	4300	6503	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109980541C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.520G>A	6.37:g.109980541C>T	ENSP00000410186:p.Asp174Asn					AKD1_uc003ptr.3_Missense_Mutation_p.D174N|AKD1_uc003pts.1_RNA	p.D174N	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			7	597	-			174					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.520G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	7.716	0.696152	0.15106	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000448084;ENST00000532976	T;T;T;T;T	0.63744	-0.05;-0.06;-0.04;1.0;1.0	5.26	4.4	0.53042	ATPase, AAA+ type, core (1);	0.774326	0.12509	N	0.462637	T	0.35653	0.0939	L	0.33137	0.985	0.80722	D	1	B;B	0.25850	0.012;0.136	B;B	0.32724	0.01;0.151	T	0.15093	-1.0449	9	.	.	.	-7.3795	10.9584	0.47370	0.0:0.9117:0.0:0.0883	.	174;174	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	N	174;174;174;97;174	ENSP00000410186:D174N;ENSP00000357944:D174N;ENSP00000285397:D174N;ENSP00000407510:D97N;ENSP00000436325:D174N	.	D	-	1	0	AKD1	110087234	0.768000	0.28519	0.017000	0.16124	0.050000	0.14768	2.329000	0.43876	1.218000	0.43458	0.650000	0.86243	GAC		PASS	0.398	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		18	63	18	63	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110944071	110944071	+	Silent	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:110944071C>A	ENST00000368911.3	-	10	1157	c.978G>T	c.(976-978)tcG>tcT	p.S326S	CDK19_ENST00000323817.3_Silent_p.S266S|CDK19_ENST00000413605.2_Silent_p.S202S	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	326	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.S326S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GAGCTTGCTCCGAGGTAATTC	0.458																																						uc003puh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(976-978)TCG>TCT		cell division cycle 2-like 6 (CDK8-like)							118.0	106.0	110.0					6																	110944071		2203	4300	6503	SO:0001819	synonymous_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110944071C>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.978G>T	6.37:g.110944071C>A						CDK19_uc003pui.1_Silent_p.S266S|CDK19_uc011eax.1_Silent_p.S202S	p.S326S	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			10	1051	-			326			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	ENST00000368911.3	37	c.978G>T	CCDS5085.1																																																																																				PASS	0.458	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		25	82	25	82	---	---	---	---
MIR588	693173	broad.mit.edu	37	6	126805844	126805844	+	RNA	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:126805844C>T	ENST00000384900.1	+	0	68					NR_030316.1				microRNA 588																		ccaccatggccaaaattgggc	0.488																																						hsa-mir-588|MI0003597																			0					0															17.0	17.0	17.0					6																	126805844		1567	3581	5148			693173							g.chr6:126805844C>T			6q22.32	2011-09-12		2008-12-18	ENSG00000207632	ENSG00000207632		"""ncRNAs / Micro RNAs"""	32844	non-coding RNA	RNA, micro				MIRN588			Standard	NR_030316		Approved	hsa-mir-588					6.37:g.126805844C>T						uc003qaq.1_Intron										+									RNA	SNP	ENST00000384900.1	37	c.68C>T																																																																																					PASS	0.488	MIR588-201	KNOWN	basic	miRNA	miRNA		NR_030316		6	12	6	12	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152540290	152540290	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:152540290C>A	ENST00000367255.5	-	120	22493	c.21892G>T	c.(21892-21894)Gat>Tat	p.D7298Y	SYNE1_ENST00000356820.4_Missense_Mutation_p.D1822Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.D7227Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.D6910Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.D7298Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.D7227Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7298					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.D7298Y(2)|p.D7227Y(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGAGGGAATCTTTAACTGTG	0.448										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(21892-21894)GAT>TAT		spectrin repeat containing, nuclear envelope 1							114.0	112.0	112.0					6																	152540290		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152540290C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21892G>T	6.37:g.152540290C>A	ENSP00000356224:p.Asp7298Tyr	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.D1822Y|SYNE1_uc003qos.3_Missense_Mutation_p.D1822Y|SYNE1_uc003qot.3_Missense_Mutation_p.D7227Y|SYNE1_uc003qou.3_Missense_Mutation_p.D7298Y|SYNE1_uc003qor.3_Missense_Mutation_p.D198Y	p.D7298Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	120	22494	-		Ovarian(120;0.0955)	7298			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.21892G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959668	0.53400	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T	0.55052	0.63;0.62;0.54;0.62;0.74;2.65;1.68	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000019	T	0.58366	0.2117	L	0.57536	1.79	0.46336	D	0.998992	D;D;D;D	0.60575	0.964;0.964;0.988;0.979	B;B;P;P	0.54889	0.367;0.367;0.763;0.504	T	0.60084	-0.7332	10	0.62326	D	0.03	.	19.6172	0.95639	0.0:1.0:0.0:0.0	.	7298;7298;7227;7227	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	Y	7298;7227;7298;7227;6910;1822;220	ENSP00000356224:D7298Y;ENSP00000396024:D7227Y;ENSP00000265368:D7298Y;ENSP00000390975:D7227Y;ENSP00000341887:D6910Y;ENSP00000349276:D1822Y;ENSP00000356220:D220Y	ENSP00000265368:D7298Y	D	-	1	0	SYNE1	152581983	1.000000	0.71417	0.991000	0.47740	0.030000	0.12068	5.617000	0.67716	2.732000	0.93576	0.650000	0.86243	GAT		PASS	0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	78	14	78	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152651824	152651824	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:152651824C>T	ENST00000367255.5	-	78	14597	c.13996G>A	c.(13996-13998)Gtc>Atc	p.V4666I	SYNE1_ENST00000448038.1_Missense_Mutation_p.V4595I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V4413I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V4666I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V4595I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4666					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V4666I(2)|p.V4595I(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTCCTGGACTTTATAGAAC	0.413										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(13996-13998)GTC>ATC		spectrin repeat containing, nuclear envelope 1							60.0	58.0	59.0					6																	152651824		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651824C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13996G>A	6.37:g.152651824C>T	ENSP00000356224:p.Val4666Ile	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.V4595I|SYNE1_uc003qou.3_Missense_Mutation_p.V4666I|SYNE1_uc010kiz.2_Missense_Mutation_p.V421I	p.V4666I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14598	-		Ovarian(120;0.0955)	4666			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13996G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	9.864	1.197182	0.22037	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49720	1.4;1.4;1.4;1.4;0.77	5.93	4.15	0.48705	.	0.342720	0.24720	N	0.036143	T	0.17959	0.0431	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.15870	0.014;0.002;0.002;0.009	T	0.05451	-1.0884	10	0.17832	T	0.49	.	11.9604	0.53005	0.0:0.8588:0.0:0.1412	.	4666;4666;4666;4595	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	4666;4595;4666;4595;4413	ENSP00000356224:V4666I;ENSP00000396024:V4595I;ENSP00000265368:V4666I;ENSP00000390975:V4595I;ENSP00000341887:V4413I	ENSP00000265368:V4666I	V	-	1	0	SYNE1	152693517	0.994000	0.37717	0.990000	0.47175	0.991000	0.79684	2.463000	0.45058	0.837000	0.34925	0.591000	0.81541	GTC		PASS	0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	56	11	56	---	---	---	---
MRPL18	29074	broad.mit.edu	37	6	160218358	160218358	+	Silent	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:160218358T>C	ENST00000367034.4	+	3	401	c.279T>C	c.(277-279)ctT>ctC	p.L93L	MRPL18_ENST00000480842.1_3'UTR|PNLDC1_ENST00000610273.1_5'Flank|PNLDC1_ENST00000392167.3_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	93					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)	p.L93L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		TAGAAGCACTTGTGGAGCATC	0.413																																						uc003qsw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(277-279)CTT>CTC		mitochondrial ribosomal protein L18 precursor							133.0	115.0	121.0					6																	160218358		2203	4300	6503	SO:0001819	synonymous_variant	29074				rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome	g.chr6:160218358T>C	AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.279T>C	6.37:g.160218358T>C						MRPL18_uc010kkb.2_RNA|PNLDC1_uc003qsx.1_5'Flank|PNLDC1_uc003qsy.1_5'Flank	p.L93L	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)	3	407	+		Breast(66;0.000776)|Ovarian(120;0.0303)	93					Q5TAP9|Q9NZW8	Silent	SNP	ENST00000367034.4	37	c.279T>C	CCDS5270.1																																																																																				PASS	0.413	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1			23	30	23	30	---	---	---	---
UNC93A	54346	broad.mit.edu	37	6	167728822	167728822	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr6:167728822G>A	ENST00000230256.3	+	8	1431	c.1256G>A	c.(1255-1257)aGc>aAc	p.S419N	UNC93A_ENST00000366829.2_Missense_Mutation_p.S377N	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	419						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S419N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGTCCTGAGCCTGACCATG	0.577																																						uc003qvq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1255-1257)AGC>AAC		unc-93 homolog A isoform 1							188.0	216.0	206.0					6																	167728822		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167728822G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1256G>A	6.37:g.167728822G>A	ENSP00000230256:p.Ser419Asn					UNC93A_uc003qvr.2_Missense_Mutation_p.S377N	p.S419N	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	8	1431	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	419					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.1256G>A	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	2.216	-0.379449	0.05000	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.06768	3.26;3.26	3.86	0.0502	0.14293	Major facilitator superfamily domain, general substrate transporter (1);	0.788621	0.11997	N	0.509233	T	0.02970	0.0088	L	0.54323	1.7	0.09310	N	1	B;B	0.30763	0.267;0.294	B;B	0.30943	0.122;0.122	T	0.37934	-0.9684	10	0.66056	D	0.02	-4.6577	6.814	0.23820	0.0:0.2415:0.2073:0.5512	.	377;419	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	N	419;377	ENSP00000230256:S419N;ENSP00000355794:S377N	ENSP00000230256:S419N	S	+	2	0	UNC93A	167648812	0.224000	0.23674	0.044000	0.18714	0.084000	0.17831	1.241000	0.32743	-0.060000	0.13132	0.462000	0.41574	AGC		PASS	0.577	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		5	306	5	306	---	---	---	---
GPR141	353345	broad.mit.edu	37	7	37780147	37780147	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:37780147C>A	ENST00000447769.1	+	4	441	c.152C>A	c.(151-153)aCc>aAc	p.T51N	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.T51N			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T51N(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGTCAGTGACCACCATGGCG	0.498																																						uc003tfm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(151-153)ACC>AAC		G protein-coupled receptor 141							98.0	100.0	99.0					7																	37780147		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780147C>A	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.152C>A	7.37:g.37780147C>A	ENSP00000390410:p.Thr51Asn					uc003tfl.2_Intron	p.T51N	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	152	+			51			Helical; Name=2; (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.152C>A	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440960	0.83993	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.41065	1.01;1.01;1.01	5.27	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.66388	-0.5936	10	0.66056	D	0.02	-18.5789	13.5243	0.61586	0.0:0.9221:0.0:0.0779	.	51	Q7Z602	GP141_HUMAN	N	51	ENSP00000396300:T51N;ENSP00000390410:T51N;ENSP00000334540:T51N	ENSP00000334540:T51N	T	+	2	0	GPR141	37746672	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	4.597000	0.61062	1.331000	0.45412	0.650000	0.86243	ACC		PASS	0.498	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		6	157	6	157	---	---	---	---
SFRP4	6424	broad.mit.edu	37	7	37956067	37956067	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:37956067C>T	ENST00000436072.2	-	1	450	c.73G>A	c.(73-75)Gag>Aag	p.E25K	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	25	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.E25K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGCACCGCCTCGCAGGGCGCG	0.687																																						uc003tfo.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(73-75)GAG>AAG		secreted frizzled-related  protein 4 precursor							67.0	57.0	61.0					7																	37956067		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956067C>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.73G>A	7.37:g.37956067C>T	ENSP00000410715:p.Glu25Lys						p.E25K	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	459	-			25			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.73G>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576103	0.96553	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.76186	-1.0	4.62	4.62	0.57501	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	M	0.88979	2.995	0.58432	D	0.999991	D	0.76494	0.999	D	0.69479	0.964	D	0.88520	0.3095	10	0.44086	T	0.13	.	16.3894	0.83528	0.0:1.0:0.0:0.0	.	25	Q6FHJ7	SFRP4_HUMAN	K	25;47	ENSP00000410715:E25K	ENSP00000410715:E25K	E	-	1	0	SFRP4	37922592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.638000	0.61353	2.376000	0.81061	0.557000	0.71058	GAG		PASS	0.687	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		47	50	47	50	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44747291	44747291	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:44747291G>T	ENST00000222673.5	+	22	2949	c.2907G>T	c.(2905-2907)gtG>gtT	p.V969V	OGDH_ENST00000449767.1_Silent_p.V965V|OGDH_ENST00000543843.1_Silent_p.V920V|OGDH_ENST00000444676.1_Silent_p.V984V|OGDH_ENST00000447398.1_Silent_p.V980V|OGDH_ENST00000439616.2_Silent_p.V819V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	969					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.V969V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ATGACTACGTGAAGCCAAGAC	0.602																																						uc003tln.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2905-2907)GTG>GTT		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						108.0	88.0	94.0					7																	44747291		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747291G>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2907G>T	7.37:g.44747291G>T						OGDH_uc011kbx.1_Silent_p.V965V|OGDH_uc011kby.1_Silent_p.V819V|OGDH_uc003tlp.2_Silent_p.V980V|OGDH_uc011kbz.1_Silent_p.V764V	p.V969V	NM_002541	NP_002532	Q02218	ODO1_HUMAN			22	3016	+			969					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2907G>T	CCDS34627.1																																																																																				PASS	0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			37	142	37	142	---	---	---	---
ZPBP	11055	broad.mit.edu	37	7	50097646	50097646	+	Silent	SNP	G	G	C	rs199712637		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:50097646G>C	ENST00000046087.2	-	4	495	c.426C>G	c.(424-426)ctC>ctG	p.L142L	ZPBP_ENST00000491129.1_5'Flank|ZPBP_ENST00000419417.1_Silent_p.L141L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	142					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GTTTATATTCGAGGAAACATG	0.323																																						uc003tou.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(424-426)CTC>CTG		zona pellucida binding protein isoform 1							102.0	102.0	102.0					7																	50097646		2203	4300	6503	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097646G>C	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.426C>G	7.37:g.50097646G>C						ZPBP_uc011kci.1_Silent_p.L68L|ZPBP_uc010kyw.2_Silent_p.L141L	p.L142L	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			4	496	-	Glioma(55;0.08)|all_neural(89;0.245)		142					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.426C>G	CCDS5509.1																																																																																				PASS	0.323	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		6	170	6	170	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53104039	53104039	+	Silent	SNP	G	G	T	rs114283332	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:53104039G>T	ENST00000408890.4	+	1	691	c.675G>T	c.(673-675)gcG>gcT	p.A225A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	225								p.A225A(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AAAATGGAGCGGTTGCTTCCT	0.637																																						uc003tpz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(673-675)GCG>GCT		POM121 membrane glycoprotein-like 12							46.0	54.0	51.0					7																	53104039		1964	4131	6095	SO:0001819	synonymous_variant	285877							g.chr7:53104039G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.675G>T	7.37:g.53104039G>T							p.A225A	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	691	+			225					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.675G>T	CCDS43584.1																																																																																				PASS	0.637	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		34	87	34	87	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71743678	71743678	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:71743678C>A	ENST00000329008.5	-	2	409	c.111G>T	c.(109-111)gaG>gaT	p.E37D	CALN1_ENST00000431984.1_Missense_Mutation_p.E37D|CALN1_ENST00000395275.2_Missense_Mutation_p.E79D|CALN1_ENST00000405452.2_Missense_Mutation_p.E37D|CALN1_ENST00000412588.1_Missense_Mutation_p.E79D|CALN1_ENST00000395276.2_Missense_Mutation_p.E37D	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	37	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.E37D(1)|p.E79D(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TACCATCGAGCTCCTCCACGG	0.562																																						uc003twa.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(109-111)GAG>GAT		calneuron 1 isoform 2							70.0	56.0	61.0					7																	71743678		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71743678C>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.111G>T	7.37:g.71743678C>A	ENSP00000332498:p.Glu37Asp					CALN1_uc003twb.3_Missense_Mutation_p.E79D|CALN1_uc003twc.3_Missense_Mutation_p.E37D	p.E37D	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			2	638	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	37			EF-hand 1.|Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.111G>T	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761159	0.69763	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.76709	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-1.04	5.94	0.959	0.19624	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	L	0.49699	1.58	0.37848	D	0.929278	D;D	0.56521	0.976;0.976	P;P	0.52343	0.696;0.696	T	0.78826	-0.2051	10	0.87932	D	0	-15.959	10.6077	0.45404	0.0:0.5117:0.0:0.4883	.	37;37	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	D	37;79;37;37;79;37;37	ENSP00000332498:E37D;ENSP00000378690:E79D;ENSP00000378691:E37D;ENSP00000410704:E37D;ENSP00000391882:E79D;ENSP00000384354:E37D;ENSP00000411806:E37D	ENSP00000332498:E37D	E	-	3	2	CALN1	71381614	1.000000	0.71417	0.983000	0.44433	0.743000	0.42351	1.109000	0.31135	0.239000	0.21243	-0.222000	0.12452	GAG		PASS	0.562	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		33	41	33	41	---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73944172	73944172	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:73944172G>A	ENST00000265755.3	+	9	1592	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R400H|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R432H|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R400H	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	400					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R400H(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCTTCAAGCGCCCCTGCACT	0.622																																						uc003uaq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1198-1200)CGC>CAC		GTF2I repeat domain containing 1 isoform 1							60.0	57.0	58.0					7																	73944172		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73944172G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1199G>A	7.37:g.73944172G>A	ENSP00000265755:p.Arg400His					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.R432H|GTF2IRD1_uc003uap.2_Missense_Mutation_p.R400H|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R400H	p.R400H	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			9	1592	+			400			GTF2I-like 2.		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.1199G>A	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	g	24.0	4.487489	0.84854	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;D;D;D	0.91635	0.999;0.91;0.976;0.944	T	0.54833	-0.8234	10	0.45353	T	0.12	-19.7274	16.6134	0.84900	0.0:0.0:1.0:0.0	.	432;400;400;400	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	H	400;432;400;400	ENSP00000265755:R400H;ENSP00000397566:R432H;ENSP00000408477:R400H;ENSP00000418383:R400H	ENSP00000265755:R400H	R	+	2	0	GTF2IRD1	73582108	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.079000	0.71291	2.250000	0.74265	0.457000	0.33378	CGC		PASS	0.622	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		10	51	10	51	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98580986	98580986	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:98580986A>G	ENST00000359863.4	+	59	9114	c.8905A>G	c.(8905-8907)Acg>Gcg	p.T2969A	TRRAP_ENST00000355540.3_Missense_Mutation_p.T2951A|TRRAP_ENST00000446306.3_Missense_Mutation_p.T2951A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2969	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.T2951A(1)|p.T2969A(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGACATGAAGACGGTGGTGAA	0.547																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(8905-8907)ACG>GCG		transformation/transcription domain-associated							185.0	136.0	153.0					7																	98580986		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98580986A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8905A>G	7.37:g.98580986A>G	ENSP00000352925:p.Thr2969Ala					TRRAP_uc011kis.1_Missense_Mutation_p.T2951A|TRRAP_uc003upr.2_Missense_Mutation_p.T2668A	p.T2969A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		59	9114	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2969			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.8905A>G	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	7.222	0.597531	0.13875	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.68765	-0.35;-0.35	5.48	5.48	0.80851	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	N	0.00155	-1.965	0.80722	D	1	B;B;B	0.20261	0.043;0.012;0.024	B;B;B	0.14578	0.009;0.009;0.011	T	0.52064	-0.8625	10	0.02654	T	1	.	15.5586	0.76219	1.0:0.0:0.0:0.0	.	2951;2690;2969	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	A	2969;2951;2950	ENSP00000352925:T2969A;ENSP00000347733:T2951A	ENSP00000347733:T2951A	T	+	1	0	TRRAP	98418922	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.576000	0.82467	2.079000	0.62486	0.528000	0.53228	ACG		PASS	0.547	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		31	58	31	58	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100454632	100454632	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:100454632C>A	ENST00000354161.3	+	5	716	c.591C>A	c.(589-591)ttC>ttA	p.F197L	SLC12A9_ENST00000540482.1_Missense_Mutation_p.F197L|SLC12A9_ENST00000428758.1_Missense_Mutation_p.F197L|SLC12A9_ENST00000275729.3_Missense_Mutation_p.F108L|SLC12A9_ENST00000415287.1_Missense_Mutation_p.F108L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	197					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.F197L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCCTCACATTCCTGCTGGTCT	0.642																																						uc003uwp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)TTC>TTA		solute carrier family 12 (potassium/chloride							111.0	87.0	95.0					7																	100454632		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100454632C>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.591C>A	7.37:g.100454632C>A	ENSP00000275730:p.Phe197Leu					SLC12A9_uc003uwo.1_Missense_Mutation_p.F108L|SLC12A9_uc003uwq.2_Missense_Mutation_p.F108L|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank	p.F197L	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			5	733	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		197			Helical; (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.591C>A	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	1.087	-0.665313	0.03428	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161	D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01	4.62	3.73	0.42828	Amino acid permease domain (1);	0.070444	0.64402	D	0.000016	D	0.89935	0.6859	N	0.01152	-0.98	0.41505	D	0.988302	B;B	0.19706	0.038;0.001	B;B	0.24155	0.051;0.007	D	0.85522	0.1204	10	0.02654	T	1	.	10.3325	0.43831	0.0:0.9014:0.0:0.0986	.	108;197	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	L	197;197;108;108;197	ENSP00000443702:F197L;ENSP00000408301:F197L;ENSP00000275729:F108L;ENSP00000413796:F108L;ENSP00000275730:F197L	ENSP00000275729:F108L	F	+	3	2	SLC12A9	100292568	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	1.831000	0.39141	0.923000	0.37045	0.462000	0.41574	TTC		PASS	0.642	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		43	110	43	110	---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106710740	106710740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:106710740C>T	ENST00000265717.4	+	2	581	c.322C>T	c.(322-324)Cga>Tga	p.R108*	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	108	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.R108*(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						AGTAATAAACCGATTCACAAG	0.308																																						uc003vdx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(322-324)CGA>TGA		cAMP-dependent protein kinase, regulatory							84.0	86.0	85.0					7																	106710740		2203	4297	6500	SO:0001587	stop_gained	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106710740C>T		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.322C>T	7.37:g.106710740C>T	ENSP00000265717:p.Arg108*						p.R108*	NM_002736	NP_002727	P31323	KAP3_HUMAN			2	497	+			108			Dimerization and phosphorylation.		A4D0R9	Nonsense_Mutation	SNP	ENST00000265717.4	37	c.322C>T	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	C	36	5.844468	0.97016	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	.	.	.	4.05	3.14	0.36123	.	0.334544	0.31246	N	0.007981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1669	8.9526	0.35799	0.2218:0.7782:0.0:0.0	.	.	.	.	X	108;108;95	.	ENSP00000265717:R108X	R	+	1	2	PRKAR2B	106497976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.442000	0.35046	1.001000	0.39076	0.655000	0.94253	CGA		PASS	0.308	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			34	85	34	85	---	---	---	---
IMMP2L	83943	broad.mit.edu	37	7	110303734	110303734	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:110303734C>A	ENST00000405709.2	-	6	894	c.452G>T	c.(451-453)tGg>tTg	p.W151L	IMMP2L_ENST00000331762.3_Missense_Mutation_p.W151L|IMMP2L_ENST00000450877.1_Missense_Mutation_p.W133L|IMMP2L_ENST00000415362.1_Missense_Mutation_p.W151L|IMMP2L_ENST00000452895.1_Missense_Mutation_p.W151L|IMMP2L_ENST00000489381.1_5'UTR	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	151					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)	p.W151L(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CTCTGGGGGCCACAGGATATG	0.438																																						uc003vfq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)TGG>TTG		IMP2 inner mitochondrial membrane protease-like							72.0	73.0	72.0					7																	110303734		2203	4300	6503	SO:0001583	missense	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:110303734C>A	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.452G>T	7.37:g.110303734C>A	ENSP00000384966:p.Trp151Leu					IMMP2L_uc010ljr.1_Missense_Mutation_p.W151L	p.W151L	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	6	895	-			151					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	ENST00000405709.2	37	c.452G>T	CCDS5753.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916801	0.92249	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000450877;ENST00000415362	.	.	.	5.5	5.5	0.81552	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	M	0.80847	2.515	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.83279	-0.0039	9	0.52906	T	0.07	-24.0598	18.5467	0.91048	0.0:1.0:0.0:0.0	.	151	Q96T52	IMP2L_HUMAN	L	151;151;151;133;151	.	ENSP00000329553:W151L	W	-	2	0	IMMP2L	110090970	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.759000	0.62227	2.756000	0.94617	0.563000	0.77884	TGG		PASS	0.438	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		29	67	29	67	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138604033	138604033	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:138604033C>T	ENST00000422774.1	-	2	387	c.339G>A	c.(337-339)ccG>ccA	p.P113P	KIAA1549_ENST00000440172.1_Silent_p.P113P|KIAA1549_ENST00000242365.4_Silent_p.P63P			Q9HCM3	K1549_HUMAN	KIAA1549	113						integral component of membrane (GO:0016021)		p.P113P(1)|p.P63P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAGTGGCAGACGGCGGGGCTG	0.517			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(337-339)CCG>CCA		hypothetical protein LOC57670 isoform 1							108.0	108.0	108.0					7																	138604033		1967	4176	6143	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138604033C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.339G>A	7.37:g.138604033C>T						KIAA1549_uc003vuk.3_Silent_p.P63P|KIAA1549_uc011kqj.1_Silent_p.P113P	p.P113P	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	388	-			113					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.339G>A	CCDS56513.1																																																																																				PASS	0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			17	108	17	108	---	---	---	---
HIPK2	28996	broad.mit.edu	37	7	139257806	139257806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:139257806G>T	ENST00000406875.3	-	15	3558	c.3464C>A	c.(3463-3465)tCg>tAg	p.S1155*	HIPK2_ENST00000428878.2_Nonsense_Mutation_p.S1128*	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1155	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.S1155*(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GATGGTGGGCGAGGGCAGGAC	0.662																																						uc003vvf.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(3463-3465)TCG>TAG		homeodomain interacting protein kinase 2 isoform							35.0	43.0	41.0					7																	139257806		2157	4253	6410	SO:0001587	stop_gained	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139257806G>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3464C>A	7.37:g.139257806G>T	ENSP00000385571:p.Ser1155*					HIPK2_uc003vvd.3_Nonsense_Mutation_p.S1128*	p.S1155*	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			15	3638	-	Melanoma(164;0.205)		1155			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Nonsense_Mutation	SNP	ENST00000406875.3	37	c.3464C>A		.	.	.	.	.	.	.	.	.	.	G	41	8.928235	0.99006	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	.	.	.	5.2	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2753	0.60184	0.0763:0.0:0.9237:0.0	.	.	.	.	X	1155;1128	.	ENSP00000385571:S1155X	S	-	2	0	HIPK2	138908346	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	9.281000	0.95811	1.192000	0.43071	0.655000	0.94253	TCG		PASS	0.662	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		8	10	8	10	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140259565	140259565	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:140259565A>C	ENST00000275884.6	-	9	2249	c.1832T>G	c.(1831-1833)aTt>aGt	p.I611S	DENND2A_ENST00000496613.1_Missense_Mutation_p.I611S|DENND2A_ENST00000492720.1_Missense_Mutation_p.I611S|DENND2A_ENST00000537639.1_Missense_Mutation_p.I611S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	611	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I611S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAACTGGGGAATGGCCTTCAG	0.512																																						uc010lnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1831-1833)ATT>AGT		DENN/MADD domain containing 2A							113.0	117.0	116.0					7																	140259565		1926	4141	6067	SO:0001583	missense	27147							g.chr7:140259565A>C	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1832T>G	7.37:g.140259565A>C	ENSP00000275884:p.Ile611Ser					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.I611S|DENND2A_uc003vvw.2_Missense_Mutation_p.I611S|DENND2A_uc003vvx.2_Missense_Mutation_p.I611S	p.I611S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			8	1977	-	Melanoma(164;0.00956)		611			UDENN.		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1832T>G	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.688139	0.88639	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.94	5.94	0.96194	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	M	0.86864	2.845	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.81189	-0.1046	10	0.87932	D	0	-19.621	16.0505	0.80760	1.0:0.0:0.0:0.0	.	611;611	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	611	ENSP00000275884:I611S;ENSP00000442245:I611S;ENSP00000419654:I611S;ENSP00000419464:I611S	ENSP00000275884:I611S	I	-	2	0	DENND2A	139906034	1.000000	0.71417	0.961000	0.40146	0.951000	0.60555	8.962000	0.93254	2.276000	0.75962	0.397000	0.26171	ATT		PASS	0.512	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		10	41	10	41	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146741040	146741040	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:146741040C>T	ENST00000361727.3	+	4	960	c.444C>T	c.(442-444)caC>caT	p.H148H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	148	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.H148H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGTCCGGCACGAATTACAGC	0.423										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(442-444)CAC>CAT		cell recognition molecule Caspr2 precursor							172.0	148.0	156.0					7																	146741040		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146741040C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.444C>T	7.37:g.146741040C>T		HNSCC(39;0.1)					p.H148H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		4	960	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	148			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.444C>T	CCDS5889.1																																																																																				PASS	0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			18	150	18	150	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151891602	151891602	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr7:151891602T>C	ENST00000262189.6	-	29	4648	c.4430A>G	c.(4429-4431)aAt>aGt	p.N1477S	KMT2C_ENST00000355193.2_Missense_Mutation_p.N1477S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1477					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N1477S(2)									TGAACTCTGATTGACATTTGG	0.388																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(4429-4431)AAT>AGT		myeloid/lymphoid or mixed-lineage leukemia 3							118.0	111.0	113.0					7																	151891602		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151891602T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4430A>G	7.37:g.151891602T>C	ENSP00000262189:p.Asn1477Ser					MLL3_uc003wkz.2_Missense_Mutation_p.N538S	p.N1477S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	29	4649	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1477					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4430A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.396884	0.25205	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82255	-1.59;-1.58	5.7	-10.4	0.00318	.	0.409848	0.20096	N	0.099322	T	0.52208	0.1720	N	0.03115	-0.41	0.25239	N	0.989763	B;B	0.10296	0.0;0.003	B;B	0.10450	0.001;0.005	T	0.51694	-0.8673	10	0.07990	T	0.79	.	13.122	0.59331	0.0:0.5456:0.2703:0.184	.	1477;538	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	1477	ENSP00000262189:N1477S;ENSP00000347325:N1477S	ENSP00000262189:N1477S	N	-	2	0	MLL3	151522535	0.002000	0.14202	0.258000	0.24420	0.915000	0.54546	-1.089000	0.03376	-2.125000	0.00821	-1.069000	0.02264	AAT		PASS	0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			72	53	72	53	---	---	---	---
ZNF596	169270	broad.mit.edu	37	8	196171	196171	+	Missense_Mutation	SNP	A	A	G	rs370719960		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:196171A>G	ENST00000398612.1	+	6	1707	c.1324A>G	c.(1324-1326)Act>Gct	p.T442A	ZNF596_ENST00000308811.4_Missense_Mutation_p.T442A|ZNF596_ENST00000320552.2_Missense_Mutation_p.T372A	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	442					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.T442A(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GAGAACTCACACTGGAGAGAA	0.393																																						uc003wot.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1324-1326)ACT>GCT		zinc finger protein 596							109.0	101.0	103.0					8																	196171		2203	4300	6503	SO:0001583	missense	169270				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:196171A>G	BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.1324A>G	8.37:g.196171A>G	ENSP00000381613:p.Thr442Ala					ZNF596_uc003wou.2_Missense_Mutation_p.T341A|ZNF596_uc003wov.2_Missense_Mutation_p.T442A|ZNF596_uc003wow.2_Missense_Mutation_p.T442A	p.T442A	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)	6	1612	+		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)	442					B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	c.1324A>G	CCDS5951.2	.	.	.	.	.	.	.	.	.	.	.	13.34	2.207247	0.39003	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.26518	1.73;1.73;1.73	2.72	2.72	0.32119	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34250	0.0891	L	0.42245	1.32	0.27654	N	0.947302	P	0.51933	0.949	P	0.56278	0.795	T	0.07908	-1.0748	9	0.66056	D	0.02	.	9.2785	0.37714	1.0:0.0:0.0:0.0	.	442	Q8TC21	ZN596_HUMAN	A	442;372;442	ENSP00000310033:T442A;ENSP00000318719:T372A;ENSP00000381613:T442A	ENSP00000310033:T442A	T	+	1	0	ZNF596	186171	0.002000	0.14202	0.224000	0.23877	0.144000	0.21451	0.640000	0.24705	1.507000	0.48752	0.533000	0.62120	ACT		PASS	0.393	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4	NM_173539		14	47	14	47	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2020527	2020527	+	Missense_Mutation	SNP	G	G	T	rs373509557		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:2020527G>T	ENST00000262113.4	+	9	1037	c.896G>T	c.(895-897)tGc>tTc	p.C299F	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	299	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.C299F(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACTCTCAAGTGCACCATGCTG	0.622																																						uc003wpx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(895-897)TGC>TTC		myomesin 2		G	PHE/CYS	1,4405	2.1+/-5.4	0,1,2202	74.0	61.0	65.0		896	5.1	1.0	8		65	0,8600		0,0,4300	no	missense	MYOM2	NM_003970.2	205	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	299/1466	2020527	1,13005	2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2020527G>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.896G>T	8.37:g.2020527G>T	ENSP00000262113:p.Cys299Phe					MYOM2_uc011kwi.1_Intron	p.C299F	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	9	1034	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	299			Ig-like C2-type 2.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.896G>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914275	0.72983	2.27E-4	0.0	ENSG00000036448	ENST00000262113	T	0.62941	-0.01	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.118060	0.56097	D	0.000022	T	0.81749	0.4888	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84128	0.0410	10	0.54805	T	0.06	.	18.5987	0.91239	0.0:0.0:1.0:0.0	.	299	P54296	MYOM2_HUMAN	F	299	ENSP00000262113:C299F	ENSP00000262113:C299F	C	+	2	0	MYOM2	2007934	1.000000	0.71417	0.999000	0.59377	0.673000	0.39480	7.102000	0.77005	2.373000	0.80994	0.655000	0.94253	TGC		PASS	0.622	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		14	23	14	23	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2964165	2964165	+	Splice_Site	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:2964165T>C	ENST00000520002.1	-	47	7394		c.e47-2		CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)		p.?(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAAATCTCCTAGAAGAGTCA	0.463																																						uc011kwk.1																			2	Unknown(2)		lung(2)	breast(20)|large_intestine(5)	25						c.e46-1		CUB and Sushi multiple domains 1 precursor							42.0	43.0	43.0					8																	2964165		1915	4133	6048	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2964165T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6839-2A>G	8.37:g.2964165T>C						CSMD1_uc011kwj.1_Splice_Site_p.G1672_splice|CSMD1_uc010lrg.2_Splice_Site_p.G348_splice	p.G2280_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	46	7229	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37	c.6839_splice		.	.	.	.	.	.	.	.	.	.	T	11.89	1.773606	0.31411	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2709	0.73699	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2951572	1.000000	0.71417	0.920000	0.36463	0.137000	0.21094	7.313000	0.78978	2.003000	0.58678	0.455000	0.32223	.		PASS	0.463	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	6	23	6	23	---	---	---	---
GATA4	2626	broad.mit.edu	37	8	11607646	11607646	+	Silent	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:11607646C>G	ENST00000335135.4	+	4	1368	c.810C>G	c.(808-810)tcC>tcG	p.S270S	GATA4_ENST00000532059.1_Silent_p.S271S|GATA4_ENST00000528712.1_Silent_p.S64S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	270					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S270S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TGGGCCTCTCCTGTGCCAACT	0.627																																						uc003wuc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(808-810)TCC>TCG		GATA binding protein 4							59.0	53.0	55.0					8																	11607646		2203	4300	6503	SO:0001819	synonymous_variant	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11607646C>G	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.810C>G	8.37:g.11607646C>G						GATA4_uc003wub.1_Silent_p.S64S|GATA4_uc011kxc.1_Silent_p.S271S	p.S270S	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	4	1364	+	all_epithelial(15;0.0839)		270					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Silent	SNP	ENST00000335135.4	37	c.810C>G	CCDS5983.1																																																																																				PASS	0.627	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		9	32	9	32	---	---	---	---
PNMA2	10687	broad.mit.edu	37	8	26365833	26365833	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:26365833C>T	ENST00000522362.2	-	3	1333	c.439G>A	c.(439-441)Gga>Aga	p.G147R	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	147					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)		p.G147R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		attgcctgtcccaacaaatgg	0.602																																						uc003xez.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GGA>AGA		paraneoplastic antigen MA2							54.0	49.0	50.0					8																	26365833		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365833C>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.439G>A	8.37:g.26365833C>T	ENSP00000429344:p.Gly147Arg						p.G147R	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1209	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	147					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.439G>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531671	0.27387	.	.	ENSG00000240694	ENST00000522362	T	0.10005	2.92	4.22	4.22	0.49857	.	.	.	.	.	T	0.19366	0.0465	L	0.46157	1.445	0.35187	D	0.773014	D	0.67145	0.996	P	0.61132	0.884	T	0.05257	-1.0896	9	0.15952	T	0.53	-7.2593	12.388	0.55343	0.0:1.0:0.0:0.0	.	147	Q9UL42	PNMA2_HUMAN	R	147	ENSP00000429344:G147R	ENSP00000429344:G147R	G	-	1	0	PNMA2	26421750	0.929000	0.31497	0.985000	0.45067	0.041000	0.13682	1.625000	0.37029	2.640000	0.89533	0.655000	0.94253	GGA		PASS	0.602	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		5	56	5	56	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52732941	52732941	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:52732941T>A	ENST00000360540.5	-	7	1450	c.1044A>T	c.(1042-1044)aaA>aaT	p.K348N	PCMTD1_ENST00000544451.1_Missense_Mutation_p.K272N|PCMTD1_ENST00000522514.1_Missense_Mutation_p.K348N|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	348						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.K348N(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCAAGTAAGCTTTTAAAGATT	0.353																																						uc003xqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)AAA>AAT		protein-L-isoaspartate (D-aspartate)							54.0	54.0	54.0					8																	52732941		2201	4299	6500	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52732941T>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.1044A>T	8.37:g.52732941T>A	ENSP00000353739:p.Lys348Asn					PCMTD1_uc011ldm.1_Missense_Mutation_p.K218N|PCMTD1_uc003xqw.3_Missense_Mutation_p.K348N|PCMTD1_uc011ldn.1_Missense_Mutation_p.K160N|PCMTD1_uc010lya.2_Missense_Mutation_p.K272N	p.K348N	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1385	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	348					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.1044A>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.503031	0.64298	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.62639	0.72;0.01;0.72	6.07	2.49	0.30216	.	0.000000	0.85682	D	0.000000	T	0.74809	0.3765	M	0.73962	2.25	0.54753	D	0.999981	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.997;0.999	T	0.73081	-0.4095	10	0.87932	D	0	-10.9792	8.3776	0.32453	0.0:0.2868:0.0:0.7132	.	218;272;348	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	N	348;272;348	ENSP00000353739:K348N;ENSP00000444026:K272N;ENSP00000428099:K348N	ENSP00000353739:K348N	K	-	3	2	PCMTD1	52895494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.198000	0.32223	0.202000	0.20498	0.533000	0.62120	AAA		PASS	0.353	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		3	66	3	66	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61735246	61735246	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:61735246G>T	ENST00000423902.2	+	12	3621	c.3142G>T	c.(3142-3144)Ggg>Tgg	p.G1048W	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.G1048W	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1048	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G1048W(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGTGTATCATGGGAGTCAAGC	0.448																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(3142-3144)GGG>TGG		chromodomain helicase DNA binding protein 7							182.0	178.0	179.0					8																	61735246		1899	4113	6012	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61735246G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3142G>T	8.37:g.61735246G>T	ENSP00000392028:p.Gly1048Trp					CHD7_uc003xuf.2_Missense_Mutation_p.G161W	p.G1048W	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3619	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1048			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3142G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721933	0.89298	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.96265	-3.96;-3.96	5.53	5.53	0.82687	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98905	1.0778	10	0.87932	D	0	-22.5502	19.8195	0.96586	0.0:0.0:1.0:0.0	.	1048;1048	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	W	1048	ENSP00000392028:G1048W;ENSP00000436027:G1048W	ENSP00000307304:G1048W	G	+	1	0	CHD7	61897800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.756000	0.94617	0.655000	0.94253	GGG		PASS	0.448	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		60	116	60	116	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61774820	61774820	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:61774820C>T	ENST00000423902.2	+	36	8375	c.7896C>T	c.(7894-7896)aaC>aaT	p.N2632N	CHD7_ENST00000524602.1_Silent_p.N583N	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2632					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N2632N(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GATGTCGAAACCCTAATAAAT	0.363																																						uc003xue.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(7894-7896)AAC>AAT		chromodomain helicase DNA binding protein 7							52.0	48.0	50.0					8																	61774820		1847	4091	5938	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61774820C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7896C>T	8.37:g.61774820C>T							p.N2632N	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		36	8373	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2632					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.7896C>T	CCDS47865.1																																																																																				PASS	0.363	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	14	4	14	---	---	---	---
PI15	51050	broad.mit.edu	37	8	75737636	75737636	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:75737636C>T	ENST00000260113.2	+	2	331	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.A51V	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	51						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.A51V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTAGATTCAGCGGATATCCCC	0.468																																						uc003yal.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(2)|ovary(1)	3						c.(151-153)GCG>GTG		protease inhibitor 15 preproprotein							101.0	93.0	95.0					8																	75737636		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737636C>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.152C>T	8.37:g.75737636C>T	ENSP00000260113:p.Ala51Val					uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.A51V	p.A51V	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	331	+	Breast(64;0.137)		51					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.152C>T	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678959	0.29783	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.09723	2.95;2.95	5.35	3.54	0.40534	CAP domain (1);	0.493618	0.22667	N	0.057111	T	0.06690	0.0171	N	0.14661	0.345	0.47009	D	0.999284	B	0.09022	0.002	B	0.04013	0.001	T	0.30416	-0.9979	10	0.22706	T	0.39	.	12.2372	0.54522	0.0:0.8614:0.0:0.1386	.	51	O43692	PI15_HUMAN	V	51	ENSP00000260113:A51V;ENSP00000428567:A51V	ENSP00000260113:A51V	A	+	2	0	PI15	75900191	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.516000	0.35856	0.923000	0.37045	0.655000	0.94253	GCG		PASS	0.468	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		26	55	26	55	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105263326	105263326	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:105263326A>T	ENST00000436393.2	+	27	4061	c.3820A>T	c.(3820-3822)Acg>Tcg	p.T1274S	RIMS2_ENST00000339750.2_Missense_Mutation_p.T192S|RIMS2_ENST00000406091.3_Missense_Mutation_p.T1256S|RIMS2_ENST00000262231.10_Missense_Mutation_p.T1095S|RIMS2_ENST00000507740.1_Missense_Mutation_p.T1070S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1318	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.T1070S(2)|p.T1274S(1)|p.T1256S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAAGAAAAACGCTGGAACC	0.378										HNSCC(12;0.0054)																												uc003yls.2																			4	Substitution - Missense(4)		lung(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3820-3822)ACG>TCG		regulating synaptic membrane exocytosis 2							85.0	74.0	77.0					8																	105263326		1840	4096	5936	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263326A>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3820A>T	8.37:g.105263326A>T	ENSP00000390665:p.Thr1274Ser	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.T1256S|RIMS2_uc003ylw.2_Missense_Mutation_p.T1263S|RIMS2_uc003ylq.2_Missense_Mutation_p.T1070S|RIMS2_uc003ylr.2_Missense_Mutation_p.T1095S	p.T1274S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		27	4061	+			1318			C2 2.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3820A>T		.	.	.	.	.	.	.	.	.	.	A	26.1	4.709309	0.89018	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.84964	0.5589	L	0.53249	1.67	0.80722	D	1	P;P;B;P;P	0.49307	0.698;0.849;0.167;0.922;0.922	P;D;P;D;D	0.70935	0.845;0.971;0.754;0.954;0.954	D	0.83678	0.0170	9	0.35671	T	0.21	.	15.6332	0.76929	1.0:0.0:0.0:0.0	.	1318;1274;1095;1070;1256	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	S	1293;1256;1318;1095;1070;1274;192;192	ENSP00000384892:T1256S;ENSP00000262231:T1095S;ENSP00000423559:T1070S;ENSP00000390665:T1274S;ENSP00000428478:T192S;ENSP00000342051:T192S	ENSP00000262231:T1095S	T	+	1	0	RIMS2	105332502	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.276000	0.95745	2.155000	0.67459	0.477000	0.44152	ACG		PASS	0.378	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		21	38	21	38	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105361446	105361446	+	Silent	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:105361446C>A	ENST00000297581.2	+	2	715	c.666C>A	c.(664-666)ctC>ctA	p.L222L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.L222L	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	222					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.L222L(1)									GGCTTTCGCTCGTCCTGCTTG	0.502																																						uc003ylx.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(664-666)CTC>CTA		dendritic cell-specific transmembrane protein							100.0	92.0	94.0					8																	105361446		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361446C>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.666C>A	8.37:g.105361446C>A							p.L222L	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	715	+			222			Helical; (Potential).		B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.666C>A	CCDS6301.1																																																																																				PASS	0.502	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		65	103	65	103	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256633	113256633	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:113256633G>T	ENST00000297405.5	-	65	10636	c.10392C>A	c.(10390-10392)ccC>ccA	p.P3464P	CSMD3_ENST00000455883.2_Silent_p.P3295P|CSMD3_ENST00000343508.3_Silent_p.P3424P|CSMD3_ENST00000352409.3_Silent_p.P3394P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3464	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P3464P(1)|p.P3424P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTCACAAATGGGAACTTTTC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)	p.P3464S(1)	lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10390-10392)CCC>CCA		CUB and Sushi multiple domains 3 isoform 1							101.0	93.0	96.0					8																	113256633		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113256633G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10392C>A	8.37:g.113256633G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P2666P|CSMD3_uc003ynt.2_Silent_p.P3424P|CSMD3_uc011lhx.1_Silent_p.P3295P	p.P3464P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10551	-			3464			Extracellular (Potential).|Sushi 28.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10392C>A	CCDS6315.1																																																																																				PASS	0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		24	85	24	85	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113569047	113569047	+	Silent	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:113569047G>A	ENST00000297405.5	-	25	4423	c.4179C>T	c.(4177-4179)ctC>ctT	p.L1393L	CSMD3_ENST00000455883.2_Silent_p.L1289L|CSMD3_ENST00000343508.3_Silent_p.L1353L|CSMD3_ENST00000352409.3_Silent_p.L1393L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1393	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1353L(1)|p.L1393L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATGCACTTGAGAAGGCTAC	0.448										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4177-4179)CTC>CTT		CUB and Sushi multiple domains 3 isoform 1							114.0	101.0	106.0					8																	113569047		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113569047G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4179C>T	8.37:g.113569047G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.L665L|CSMD3_uc003ynt.2_Silent_p.L1353L|CSMD3_uc011lhx.1_Silent_p.L1289L	p.L1393L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			25	4338	-			1393			Extracellular (Potential).|Sushi 7.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4179C>T	CCDS6315.1																																																																																				PASS	0.448	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		25	69	25	69	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116599281	116599281	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:116599281A>T	ENST00000220888.5	-	4	2767	c.2608T>A	c.(2608-2610)Tat>Aat	p.Y870N	TRPS1_ENST00000395715.3_Missense_Mutation_p.Y883N|TRPS1_ENST00000519076.1_Missense_Mutation_p.Y624N|TRPS1_ENST00000520276.1_Missense_Mutation_p.Y874N|TRPS1_ENST00000519674.1_Missense_Mutation_p.Y870N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	870					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y870N(1)|p.Y883N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GATGCAGGATACTGCTGGGGG	0.517									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2608-2610)TAT>AAT		zinc finger transcription factor TRPS1							50.0	51.0	51.0					8																	116599281		1822	4078	5900	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599281A>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2608T>A	8.37:g.116599281A>T	ENSP00000220888:p.Tyr870Asn					TRPS1_uc011lhy.1_Missense_Mutation_p.Y874N|TRPS1_uc003yny.2_Missense_Mutation_p.Y883N|TRPS1_uc010mcy.2_Missense_Mutation_p.Y870N	p.Y870N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	3067	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		870					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2608T>A		.	.	.	.	.	.	.	.	.	.	A	19.54	3.846775	0.71603	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98455	-4.94;-4.91;-4.89;-4.91;0.62	5.76	5.76	0.90799	.	0.325677	0.31323	N	0.007856	D	0.98005	0.9343	L	0.32530	0.975	0.53688	D	0.999976	D;D;D	0.89917	1.0;0.991;0.998	D;P;D	0.71656	0.974;0.755;0.929	D	0.99851	1.1072	10	0.72032	D	0.01	.	16.087	0.81065	1.0:0.0:0.0:0.0	.	874;870;883	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	883;870;624;874;870	ENSP00000379065:Y883N;ENSP00000220888:Y870N;ENSP00000428910:Y624N;ENSP00000428680:Y874N;ENSP00000429174:Y870N	ENSP00000220888:Y870N	Y	-	1	0	TRPS1	116668456	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.367000	0.79558	2.202000	0.70862	0.533000	0.62120	TAT		PASS	0.517	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		51	80	51	80	---	---	---	---
NSMCE2	286053	broad.mit.edu	37	8	126369499	126369499	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:126369499G>A	ENST00000287437.3	+	6	673	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NSMCE2_ENST00000522563.1_Missense_Mutation_p.G153R|NSMCE2_ENST00000517315.1_Missense_Mutation_p.G93R	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	153					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.G153R(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CGGAACAGAAGGAGTGGATGA	0.458																																						uc003yrw.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(457-459)GGA>AGA		non-SMC element 2, MMS21 homolog							91.0	80.0	84.0					8																	126369499		2203	4300	6503	SO:0001583	missense	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126369499G>A	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.457G>A	8.37:g.126369499G>A	ENSP00000287437:p.Gly153Arg						p.G153R	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		6	685	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		153					Q8N549	Missense_Mutation	SNP	ENST00000287437.3	37	c.457G>A	CCDS6356.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223333	0.39300	.	.	ENSG00000156831	ENST00000517532;ENST00000287437;ENST00000522563;ENST00000517315	T;T;T;T	0.44482	0.95;0.92;0.92;0.93	6.04	5.15	0.70609	.	0.328980	0.29021	N	0.013390	T	0.34366	0.0895	L	0.36672	1.1	0.35144	D	0.769151	B	0.11235	0.004	B	0.08055	0.003	T	0.35748	-0.9776	10	0.25106	T	0.35	.	14.9598	0.71147	0.0:0.3676:0.6324:0.0	.	153	Q96MF7	NSE2_HUMAN	R	153;153;153;93	ENSP00000429612:G153R;ENSP00000287437:G153R;ENSP00000430668:G153R;ENSP00000428846:G93R	ENSP00000287437:G153R	G	+	1	0	NSMCE2	126438681	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	2.843000	0.48238	1.516000	0.48900	0.561000	0.74099	GGA		PASS	0.458	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		33	58	33	58	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139163694	139163694	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:139163694G>T	ENST00000395297.1	-	13	3194	c.3024C>A	c.(3022-3024)tcC>tcA	p.S1008S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1008								p.S1008S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCCCATGATGGAAGTGCCTG	0.522										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(3022-3024)TCC>TCA		hypothetical protein LOC51059							83.0	79.0	81.0					8																	139163694		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139163694G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3024C>A	8.37:g.139163694G>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.S909S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.S570S|FAM135B_uc003yvb.2_Silent_p.S570S	p.S1008S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3195	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1008					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3024C>A	CCDS6375.2																																																																																				PASS	0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		27	51	27	51	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139207519	139207519	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:139207519C>A	ENST00000395297.1	-	9	1025	c.855G>T	c.(853-855)caG>caT	p.Q285H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	285								p.Q285H(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGAGCACAGCTGAGAAAGTG	0.418										HNSCC(54;0.14)																												uc003yuy.2																			4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)	9						c.(853-855)CAG>CAT		hypothetical protein LOC51059							86.0	81.0	83.0					8																	139207519		1849	4091	5940	SO:0001583	missense	51059							g.chr8:139207519C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.855G>T	8.37:g.139207519C>A	ENSP00000378710:p.Gln285His	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.Q186H|FAM135B_uc003yuz.2_RNA	p.Q285H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		9	1026	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		285					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.855G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998644	0.54147	.	.	ENSG00000147724	ENST00000395297	T	0.79247	-1.25	4.44	2.64	0.31445	.	0.355997	0.27076	N	0.021060	T	0.78868	0.4351	M	0.66939	2.045	0.38268	D	0.942087	P	0.48911	0.917	P	0.51487	0.671	T	0.79680	-0.1702	10	0.72032	D	0.01	-14.2803	6.9482	0.24530	0.0:0.7951:0.0:0.2049	.	285	Q49AJ0	F135B_HUMAN	H	285	ENSP00000378710:Q285H	ENSP00000276737:Q285H	Q	-	3	2	FAM135B	139276701	0.972000	0.33761	0.997000	0.53966	0.995000	0.86356	-0.110000	0.10824	0.808000	0.34231	0.557000	0.71058	CAG		PASS	0.418	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		34	100	34	100	---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145746733	145746733	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr8:145746733C>T	ENST00000292524.1	+	4	1499	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	LRRC14_ENST00000529022.1_Silent_p.S451S	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	451								p.S451S(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)			TGGAGGCCTCCATCAATGAGG	0.627																																						uc003zdk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1351-1353)TCC>TCT		leucine rich repeat containing 14							42.0	42.0	42.0					8																	145746733		2202	4299	6501	SO:0001819	synonymous_variant	9684							g.chr8:145746733C>T	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.1353C>T	8.37:g.145746733C>T						LRRC14_uc003zdl.1_Silent_p.S451S|LRRC14_uc003zdo.2_5'Flank	p.S451S	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)		4	1499	+	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)		451					A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	c.1353C>T	CCDS6432.1																																																																																				PASS	0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		8	35	8	35	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14824964	14824964	+	Silent	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:14824964C>A	ENST00000380880.3	-	11	2691	c.1908G>T	c.(1906-1908)gtG>gtT	p.V636V	FREM1_ENST00000422223.2_Silent_p.V636V|FREM1_ENST00000380881.4_Silent_p.V637V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	636					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V637V(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGGTCATCCACTGGAGTTA	0.388																																						uc003zlm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1906-1908)GTG>GTT		FRAS1 related extracellular matrix 1 precursor							78.0	72.0	74.0					9																	14824964		1824	4073	5897	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824964C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1908G>T	9.37:g.14824964C>A						FREM1_uc010mic.2_RNA	p.V636V	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2498	-			636			CSPG 4.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.1908G>T	CCDS47952.1																																																																																				PASS	0.388	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		45	26	45	26	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37356933	37356933	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:37356933T>C	ENST00000336755.5	+	9	1406	c.1300T>C	c.(1300-1302)Tgg>Cgg	p.W434R	ZCCHC7_ENST00000534928.1_Missense_Mutation_p.W144R|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	434						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W434R(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CCGTGCCTCATGGAAAAGCAA	0.433																																						uc003zzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1300-1302)TGG>CGG		zinc finger, CCHC domain containing 7							44.0	44.0	44.0					9																	37356933		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37356933T>C	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1300T>C	9.37:g.37356933T>C	ENSP00000337839:p.Trp434Arg					ZCCHC7_uc011lqh.1_Missense_Mutation_p.W144R|ZCCHC7_uc011lqi.1_Missense_Mutation_p.W433R|ZCCHC7_uc010mlt.2_Missense_Mutation_p.W433R	p.W434R	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	9	1473	+			434					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.1300T>C	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	T	0.139	-1.104195	0.01828	.	.	ENSG00000147905	ENST00000336755;ENST00000534928	T;T	0.39997	1.64;1.05	5.73	-11.5	0.00074	.	1.163030	0.05865	N	0.623660	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10941	-1.0608	10	0.11794	T	0.64	.	0.7447	0.00980	0.3671:0.2202:0.2556:0.1572	.	434	Q8N3Z6	ZCHC7_HUMAN	R	434;144	ENSP00000337839:W434R;ENSP00000443113:W144R	ENSP00000337839:W434R	W	+	1	0	ZCCHC7	37346933	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.202000	0.03023	-1.094000	0.03054	-0.317000	0.08691	TGG		PASS	0.433	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		23	17	23	17	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37745120	37745120	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:37745120C>A	ENST00000539465.1	+	16	3684	c.3091C>A	c.(3091-3093)Cca>Aca	p.P1031T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.P1031T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1031						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.P1031T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGCCAGCAACCCAGGACTAAA	0.502																																						uc004aag.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(3091-3093)CCA>ACA		FERM and PDZ domain containing 1							82.0	87.0	85.0					9																	37745120		2202	4300	6502	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745120C>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3091C>A	9.37:g.37745120C>A	ENSP00000444411:p.Pro1031Thr					FRMPD1_uc004aah.1_Missense_Mutation_p.P1031T	p.P1031T	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3135	+			1031					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3091C>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611253	0.28712	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06768	3.26;3.26	5.16	0.587	0.17439	.	5.645470	0.01438	N	0.014962	T	0.06735	0.0172	L	0.27053	0.805	0.09310	N	1	B	0.24186	0.099	B	0.19946	0.027	T	0.38134	-0.9675	10	0.72032	D	0.01	0.2976	1.4614	0.02396	0.1775:0.4565:0.1738:0.1922	.	1031	Q5SYB0	FRPD1_HUMAN	T	1031	ENSP00000366995:P1031T;ENSP00000444411:P1031T	ENSP00000366995:P1031T	P	+	1	0	FRMPD1	37735120	0.002000	0.14202	0.001000	0.08648	0.024000	0.10985	-0.122000	0.10627	0.497000	0.27926	0.455000	0.32223	CCA		PASS	0.502	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		51	69	51	69	---	---	---	---
TMEM246	84302	broad.mit.edu	37	9	104238559	104238559	+	Silent	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:104238559C>A	ENST00000374851.1	-	4	1963	c.816G>T	c.(814-816)ctG>ctT	p.L272L	RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Silent_p.L272L|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Silent_p.L272L|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	272						integral component of membrane (GO:0016021)		p.L272L(1)									GTAAGGGCCCCAGCAACATGC	0.537																																						uc004bbm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(814-816)CTG>CTT		hypothetical protein LOC84302							100.0	102.0	101.0					9																	104238559		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104238559C>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.816G>T	9.37:g.104238559C>A						uc004bbl.1_5'Flank	p.L272L	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			2	1138	-		Acute lymphoblastic leukemia(62;0.0527)	272			Helical; (Potential).		Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.816G>T	CCDS6757.1																																																																																				PASS	0.537	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		113	61	113	61	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115818955	115818955	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:115818955C>T	ENST00000374227.3	-	1	41	c.14G>A	c.(13-15)aGc>aAc	p.S5N	ZFP37_ENST00000553380.1_Missense_Mutation_p.S5N|ZFP37_ENST00000555206.1_Missense_Mutation_p.S5N	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S5N(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTGGACGCCGCTGGAGACCGA	0.672																																						uc004bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(13-15)AGC>AAC		zinc finger protein 37 homolog							62.0	62.0	62.0					9																	115818955		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115818955C>T	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.14G>A	9.37:g.115818955C>T	ENSP00000363344:p.Ser5Asn					ZFP37_uc011lwz.1_Missense_Mutation_p.S5N|ZFP37_uc011lxa.1_Missense_Mutation_p.S5N	p.S5N	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			1	42	-			5					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.14G>A	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	c	13.92	2.379625	0.42207	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05717	3.45;3.4;3.41	2.99	-1.49	0.08718	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B;B;B	0.22983	0.078;0.078;0.047	B;B;B	0.19946	0.027;0.027;0.012	T	0.43766	-0.9371	9	0.38643	T	0.18	.	2.4254	0.04458	0.1617:0.4864:0.2171:0.1348	.	5;5;5	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	N	5	ENSP00000363344:S5N;ENSP00000451310:S5N;ENSP00000452552:S5N	ENSP00000363344:S5N	S	-	2	0	ZFP37	114858776	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.804000	0.04535	-0.352000	0.08237	0.558000	0.71614	AGC		PASS	0.672	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		40	32	40	32	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475457	120475457	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:120475457A>T	ENST00000355622.6	+	3	1152	c.1051A>T	c.(1051-1053)Aaa>Taa	p.K351*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.K311*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	351					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.K351*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ATTGAAACTCAAATCTCTCAA	0.353																																						uc004bjz.2																			1	Substitution - Nonsense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1051-1053)AAA>TAA		toll-like receptor 4 precursor							56.0	62.0	60.0					9																	120475457		2202	4300	6502	SO:0001587	stop_gained	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475457A>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1051A>T	9.37:g.120475457A>T	ENSP00000363089:p.Lys351*					TLR4_uc004bka.2_Nonsense_Mutation_p.K311*|TLR4_uc004bkb.2_Nonsense_Mutation_p.K151*	p.K351*	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1342	+			351			LRR 9.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Nonsense_Mutation	SNP	ENST00000355622.6	37	c.1051A>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015811	0.54468	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	.	.	.	5.56	-11.1	0.00147	.	1.791780	0.02445	N	0.085025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4943	0.07649	0.5381:0.1296:0.2237:0.1087	.	.	.	.	X	311;351	.	ENSP00000363089:K351X	K	+	1	0	TLR4	119515278	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.640000	0.02009	-1.986000	0.00983	-3.170000	0.00057	AAA		PASS	0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		48	41	48	41	---	---	---	---
OR1J4	26219	broad.mit.edu	37	9	125281783	125281783	+	Missense_Mutation	SNP	C	C	G	rs552154608		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:125281783C>G	ENST00000340750.1	+	1	364	c.364C>G	c.(364-366)Cgg>Ggg	p.R122G		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122G(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GGCATACGATCGGTATGTGGC	0.433																																						uc011lyw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)CGG>GGG		olfactory receptor, family 1, subfamily J,							200.0	164.0	176.0					9																	125281783		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281783C>G	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.364C>G	9.37:g.125281783C>G	ENSP00000343521:p.Arg122Gly						p.R122G	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	364	+			122			Cytoplasmic (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.364C>G	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720982	0.30503	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	T	0.77620	-1.11	5.54	-4.09	0.03951	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33534	U	0.004813	D	0.89976	0.6871	H	0.97390	3.995	0.29302	N	0.868636	D	0.89917	1.0	D	0.97110	1.0	D	0.85450	0.1160	10	0.49607	T	0.09	.	13.2098	0.59817	0.6799:0.2627:0.0:0.0574	.	122	Q8NGS1	OR1J4_HUMAN	G	288;122	ENSP00000343521:R122G	ENSP00000407987:R288G	R	+	1	2	OR1J2;OR1J4	124321604	0.023000	0.18921	0.004000	0.12327	0.004000	0.04260	0.384000	0.20668	-1.044000	0.03254	-0.145000	0.13849	CGG		PASS	0.433	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			94	71	94	71	---	---	---	---
OR1N2	138882	broad.mit.edu	37	9	125315489	125315489	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:125315489G>T	ENST00000373688.2	+	1	99	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14V(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GAACTACAAGGGATGGGAAAA	0.453																																						uc011lyx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(40-42)GGG>GTG		olfactory receptor, family 1, subfamily N,							100.0	98.0	99.0					9																	125315489		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315489G>T		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.41G>T	9.37:g.125315489G>T	ENSP00000362792:p.Gly14Val						p.G14V	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	41	+			14			Extracellular (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.41G>T	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	8.208	0.799781	0.16397	.	.	ENSG00000171501	ENST00000373688	T	0.00452	7.34	3.71	2.8	0.32819	.	1.391580	0.05579	U	0.572573	T	0.00271	0.0008	N	0.14661	0.345	0.45621	D	0.998551	B	0.23128	0.08	B	0.14578	0.011	T	0.51148	-0.8742	10	0.17832	T	0.49	.	9.125	0.36810	0.1105:0.0:0.8895:0.0	.	14	Q8NGR9	OR1N2_HUMAN	V	14	ENSP00000362792:G14V	ENSP00000362792:G14V	G	+	2	0	OR1N2	124355310	0.001000	0.12720	0.764000	0.31436	0.567000	0.35839	0.147000	0.16202	0.926000	0.37118	0.644000	0.83932	GGG		PASS	0.453	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			71	35	71	35	---	---	---	---
STXBP1	6812	broad.mit.edu	37	9	130430389	130430389	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:130430389G>T	ENST00000373299.1	+	10	940	c.825G>T	c.(823-825)cgG>cgT	p.R275R	STXBP1_ENST00000373302.3_Silent_p.R275R	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	275					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.R275R(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGGAGGCACGGGTGAAGGAGG	0.592																																						uc004brl.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(823-825)CGG>CGT		syntaxin binding protein 1 isoform b							101.0	88.0	92.0					9																	130430389		2203	4300	6503	SO:0001819	synonymous_variant	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130430389G>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.825G>T	9.37:g.130430389G>T						STXBP1_uc004brk.2_Silent_p.R275R	p.R275R	NM_001032221	NP_001027392	P61764	STXB1_HUMAN			10	1022	+			275					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	ENST00000373299.1	37	c.825G>T	CCDS35146.1																																																																																				PASS	0.592	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		4	36	4	36	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139393588	139393588	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr9:139393588C>G	ENST00000277541.6	-	32	6133	c.6058G>C	c.(6058-6060)Gac>Cac	p.D2020H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2020	HIF1AN-binding. {ECO:0000250}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D2020H(1)|p.D2021H(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTTGACGTCGGCGTGTGAG	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(6058-6060)GAC>CAC		notch1 preproprotein							83.0	93.0	90.0					9																	139393588		2203	4299	6502	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393588C>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6058G>C	9.37:g.139393588C>G	ENSP00000277541:p.Asp2020His	HNSCC(8;0.001)					p.D2020H	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	32	6058	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2020			ANK 3.|Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6058G>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541681	0.65198	.	.	ENSG00000148400	ENST00000277541	T	0.59502	0.26	5.07	5.07	0.68467	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78821	-0.2053	10	0.87932	D	0	.	17.7871	0.88541	0.0:1.0:0.0:0.0	.	2020	P46531	NOTC1_HUMAN	H	2020	ENSP00000277541:D2020H	ENSP00000277541:D2020H	D	-	1	0	NOTCH1	138513409	1.000000	0.71417	0.767000	0.31495	0.008000	0.06430	7.243000	0.78219	2.512000	0.84698	0.561000	0.74099	GAC		PASS	0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		34	27	34	27	---	---	---	---
FAM107B	83641	broad.mit.edu	37	10	14572388	14572388	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:14572388A>G	ENST00000378470.1	-	2	357	c.71T>C	c.(70-72)gTa>gCa	p.V24A	FAM107B_ENST00000378462.1_Missense_Mutation_p.V24A|FAM107B_ENST00000378458.2_Missense_Mutation_p.V24A|FAM107B_ENST00000468747.1_Missense_Mutation_p.V24A|FAM107B_ENST00000378467.4_Missense_Mutation_p.V24A|FAM107B_ENST00000479731.1_Missense_Mutation_p.V24A|FAM107B_ENST00000496330.1_Missense_Mutation_p.V24A|FAM107B_ENST00000181796.2_Missense_Mutation_p.V199A|FAM107B_ENST00000471815.1_5'UTR|FAM107B_ENST00000378465.3_Missense_Mutation_p.V24A|FAM107B_ENST00000478076.1_Missense_Mutation_p.V24A	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	24					sensory perception of sound (GO:0007605)			p.V199A(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGAGGTTTTTACAGGATTGAT	0.373																																						uc001imx.1																			1	Substitution - Missense(1)		lung(1)	breast(4)	4						c.(70-72)GTA>GCA		hypothetical protein LOC83641							139.0	133.0	135.0					10																	14572388		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14572388A>G	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.71T>C	10.37:g.14572388A>G	ENSP00000367731:p.Val24Ala					FAM107B_uc001ina.1_Missense_Mutation_p.V199A|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Missense_Mutation_p.V24A|FAM107B_uc001imy.1_Missense_Mutation_p.V24A|FAM107B_uc001imz.1_Missense_Mutation_p.V24A	p.V24A	NM_031453	NP_113641	Q9H098	F107B_HUMAN			2	316	-			24					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000378470.1	37	c.71T>C		.	.	.	.	.	.	.	.	.	.	A	25.1	4.608307	0.87258	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277;ENST00000472095	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.21	5.21	0.72293	.	0.116150	0.64402	D	0.000020	T	0.68183	0.2973	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.83275	0.996;0.983	T	0.72214	-0.4358	10	0.66056	D	0.02	-28.1531	14.2555	0.66048	1.0:0.0:0.0:0.0	.	199;24	Q9H098-2;Q9H098	.;F107B_HUMAN	A	24;199;24;24;24;24;24;24;24;24;24;24;24;24;24;24;24;24;24;24	ENSP00000367731:V24A;ENSP00000181796:V199A;ENSP00000418120:V24A;ENSP00000367728:V24A;ENSP00000367726:V24A;ENSP00000367719:V24A;ENSP00000417782:V24A;ENSP00000367723:V24A;ENSP00000418330:V24A;ENSP00000419603:V24A;ENSP00000420444:V24A;ENSP00000413676:V24A;ENSP00000420249:V24A;ENSP00000418395:V24A;ENSP00000417242:V24A;ENSP00000420314:V24A;ENSP00000397949:V24A;ENSP00000417845:V24A;ENSP00000419064:V24A	ENSP00000181796:V199A	V	-	2	0	FAM107B	14612394	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	8.962000	0.93254	1.972000	0.57404	0.482000	0.46254	GTA		PASS	0.373	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453		3	162	3	162	---	---	---	---
RSU1	6251	broad.mit.edu	37	10	16796963	16796963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:16796963G>A	ENST00000377921.3	-	4	608	c.307C>T	c.(307-309)Cga>Tga	p.R103*	RSU1_ENST00000602389.1_Nonsense_Mutation_p.R50*|RSU1_ENST00000345264.5_Nonsense_Mutation_p.R103*|RSU1_ENST00000464074.2_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1	103					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.R103*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		CCGAAGCCTCGTGGCAAAGTG	0.468																																						uc001iok.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(307-309)CGA>TGA		ras suppressor protein 1 isoform 2							79.0	84.0	82.0					10																	16796963		2203	4300	6503	SO:0001587	stop_gained	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16796963G>A	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.307C>T	10.37:g.16796963G>A	ENSP00000367154:p.Arg103*					RSU1_uc001iol.2_Nonsense_Mutation_p.R103*|RSU1_uc001iom.2_Nonsense_Mutation_p.R50*|RSU1_uc001ion.2_Nonsense_Mutation_p.R103*	p.R103*	NM_152724	NP_689937	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	4	609	-			103			LRR 3.		A8KA46|D3DRU3|Q6FI17	Nonsense_Mutation	SNP	ENST00000377921.3	37	c.307C>T	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	G	39	7.452848	0.98292	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	.	.	.	5.15	5.15	0.70609	.	0.063092	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4785	0.67564	0.0:0.0:0.8437:0.1562	.	.	.	.	X	103;103;50	.	ENSP00000339521:R103X	R	-	1	2	RSU1	16836969	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.873000	0.48475	2.405000	0.81733	0.650000	0.86243	CGA		PASS	0.468	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		13	99	13	99	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16960671	16960671	+	Missense_Mutation	SNP	C	C	A	rs553363833		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:16960671C>A	ENST00000377833.4	-	45	7015	c.6950G>T	c.(6949-6951)cGa>cTa	p.R2317L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2317	CUB 16. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R2317L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGTCAGATCGAAATCTCAA	0.413																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(6949-6951)CGA>CTA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						72.0	64.0	67.0					10																	16960671		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16960671C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6950G>T	10.37:g.16960671C>A	ENSP00000367064:p.Arg2317Leu						p.R2317L	NM_001081	NP_001072	O60494	CUBN_HUMAN			45	7002	-			2317			CUB 16.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6950G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984599	0.53934	.	.	ENSG00000107611	ENST00000377833	T	0.34472	1.36	5.6	3.28	0.37604	CUB (5);	0.487586	0.15459	N	0.261229	T	0.29914	0.0748	L	0.48218	1.51	0.34661	D	0.722671	P	0.50369	0.934	P	0.44811	0.461	T	0.32877	-0.9890	10	0.18276	T	0.48	.	6.0988	0.20035	0.301:0.5937:0.0:0.1053	.	2317	O60494	CUBN_HUMAN	L	2317	ENSP00000367064:R2317L	ENSP00000367064:R2317L	R	-	2	0	CUBN	17000677	0.648000	0.27313	0.090000	0.20809	0.813000	0.45954	1.258000	0.32944	0.434000	0.26340	0.650000	0.86243	CGA		PASS	0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		5	45	5	45	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18292099	18292099	+	Splice_Site	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:18292099G>T	ENST00000377369.2	+	12	2032		c.e12-1		SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000377374.4_Splice_Site|SLC39A12_ENST00000539911.1_Splice_Site	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTAAACTTCAGGAGACTTTGC	0.393																																						uc001ipo.2																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e12-1		solute carrier family 39 (zinc transporter),							140.0	140.0	140.0					10																	18292099		2203	4300	6503	SO:0001630	splice_region_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18292099G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1760-1G>T	10.37:g.18292099G>T						SLC39A12_uc001ipn.2_Splice_Site_p.G550_splice|SLC39A12_uc001ipp.2_Splice_Site_p.G586_splice|SLC39A12_uc010qck.1_Splice_Site_p.G453_splice|uc001ipq.1_RNA	p.G587_splice	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			12	2033	+								B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Splice_Site	SNP	ENST00000377369.2	37	c.1760_splice	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375337	0.82682	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7024	0.96060	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC39A12	18332105	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	7.965000	0.87945	2.724000	0.93272	0.655000	0.94253	.		PASS	0.393	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	Intron	27	130	27	130	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27702888	27702888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:27702888C>A	ENST00000438700.3	-	1	409	c.292G>T	c.(292-294)Gag>Tag	p.E98*		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	98					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.E98*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTTTCCTCCTCCGGCAGGGGT	0.706																																						uc001itu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(292-294)GAG>TAG		patched domain containing 3							32.0	35.0	34.0					10																	27702888		2203	4299	6502	SO:0001587	stop_gained	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702888C>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.292G>T	10.37:g.27702888C>A	ENSP00000417658:p.Glu98*						p.E98*	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	410	-			98					I3L499|Q6ZU28	Nonsense_Mutation	SNP	ENST00000438700.3	37	c.292G>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086941	0.55861	.	.	ENSG00000182077	ENST00000438700	.	.	.	2.81	-5.62	0.02481	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	3.8556	0.08974	0.1163:0.2401:0.4618:0.1817	.	.	.	.	X	98	.	ENSP00000417658:E98X	E	-	1	0	PTCHD3	27742894	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	-0.164000	0.09983	-1.342000	0.02222	-0.258000	0.10820	GAG		PASS	0.706	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		11	18	11	18	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50532472	50532472	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:50532472G>T	ENST00000374144.3	+	3	2170	c.1882G>T	c.(1882-1884)Gcc>Tcc	p.A628S	C10orf71_ENST00000323868.4_Missense_Mutation_p.A628S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	628								p.A628S(2)		endometrium(1)	1						GATGGGTCCTGCCGGATCCAG	0.572																																						uc010qgp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1882-1884)GCC>TCC		hypothetical protein LOC118461 isoform 2							27.0	28.0	28.0					10																	50532472		1955	4168	6123	SO:0001583	missense	118461							g.chr10:50532472G>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1882G>T	10.37:g.50532472G>T	ENSP00000363259:p.Ala628Ser						p.A628S	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	2221	+			628					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1882G>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	5.390	0.257194	0.10239	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.13901	2.55;3.56	5.74	-11.5	0.00074	.	1.401140	0.05177	N	0.500506	T	0.03263	0.0095	N	0.03115	-0.41	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.18304	-1.0341	10	0.07030	T	0.85	.	2.776	0.05347	0.4616:0.2174:0.0729:0.2481	.	628	Q711Q0-3	.	S	628	ENSP00000318713:A628S;ENSP00000363259:A628S	ENSP00000318713:A628S	A	+	1	0	C10orf71	50202478	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.568000	0.00915	-4.260000	0.00061	-1.054000	0.02325	GCC		PASS	0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		6	10	6	10	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50678601	50678601	+	Silent	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:50678601T>C	ENST00000355832.5	-	18	3483	c.3405A>G	c.(3403-3405)acA>acG	p.T1135T	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Silent_p.T505T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1135					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.T1135T(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGTTTTGCCTGTTCCTGAAG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3																			1	Substitution - coding silent(1)		lung(1)	lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(3403-3405)ACA>ACG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							128.0	119.0	122.0					10																	50678601		2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678601T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3405A>G	10.37:g.50678601T>C						ERCC6_uc009xod.2_Silent_p.T295T|ERCC6_uc010qgr.1_Silent_p.T505T|ERCC6_uc001jhr.3_Silent_p.T503T	p.T1135T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			18	3559	-			1135					D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	c.3405A>G	CCDS7229.1																																																																																				PASS	0.408	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		56	77	56	77	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61834414	61834414	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:61834414C>T	ENST00000280772.2	-	37	6416	c.6225G>A	c.(6223-6225)caG>caA	p.Q2075Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2075					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q2075Q(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTGTGTTCCTGCAAAGCAA	0.393																																						uc001jky.2																			1	Substitution - coding silent(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(6223-6225)CAG>CAA		ankyrin 3 isoform 1							147.0	140.0	142.0					10																	61834414		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834414C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6225G>A	10.37:g.61834414C>T						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.Q2075Q	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	6417	-			2075					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.6225G>A	CCDS7258.1																																																																																				PASS	0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		20	103	20	103	---	---	---	---
CFAP70	118491	broad.mit.edu	37	10	75113471	75113471	+	Silent	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:75113471G>A	ENST00000310715.3	-	3	213	c.93C>T	c.(91-93)acC>acT	p.T31T	TTC18_ENST00000394865.1_Silent_p.T31T|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Silent_p.T31T|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Silent_p.T31T	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		31						extracellular vesicular exosome (GO:0070062)		p.T31T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCGAATAAAGGTAACTGGAG	0.373																																						uc009xrc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(91-93)ACC>ACT		tetratricopeptide repeat domain 18							97.0	88.0	91.0					10																	75113471		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75113471G>A																												ENST00000310715.3:c.93C>T	10.37:g.75113471G>A						TTC18_uc001jty.2_Silent_p.T31T|TTC18_uc009xrd.1_5'UTR	p.T31T	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			3	214	-	Prostate(51;0.0119)		31					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.93C>T	CCDS7324.3																																																																																				PASS	0.373	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				18	38	18	38	---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79552268	79552268	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:79552268C>A	ENST00000372391.2	-	32	5695	c.5690G>T	c.(5689-5691)tGc>tTc	p.C1897F	DLG5_ENST00000372388.2_Missense_Mutation_p.C1557F|RP13-39P12.3_ENST00000434097.2_RNA|RP13-39P12.3_ENST00000601701.1_RNA|DLG5_ENST00000459739.1_5'Flank	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1897	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.C1897F(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GATCTGAGTGCAAATGCTTGA	0.527																																						uc001jzk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(3)	8						c.(5689-5691)TGC>TTC		discs large homolog 5							109.0	108.0	108.0					10																	79552268		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79552268C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5690G>T	10.37:g.79552268C>A	ENSP00000361467:p.Cys1897Phe					DLG5_uc001jzi.2_Missense_Mutation_p.C652F|DLG5_uc001jzj.2_Missense_Mutation_p.C1312F	p.C1897F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		32	5760	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1897			Guanylate kinase-like.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.5690G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950336	0.92660	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.43294	0.95;0.95;0.95	6.16	6.16	0.99307	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.39020	N	0.001483	T	0.63827	0.2544	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.981	T	0.51803	-0.8659	10	0.23891	T	0.37	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1897;1557	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	F	1897;858;1557	ENSP00000361467:C1897F;ENSP00000394797:C858F;ENSP00000361464:C1557F	ENSP00000361464:C1557F	C	-	2	0	DLG5	79222274	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.653000	0.61462	2.937000	0.99478	0.650000	0.86243	TGC		PASS	0.527	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			4	146	4	146	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84745221	84745221	+	Nonsense_Mutation	SNP	G	G	T	rs138878772	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:84745221G>T	ENST00000404547.1	+	10	2023	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*	NRG3_ENST00000404576.2_Nonsense_Mutation_p.E455*|NRG3_ENST00000372141.2_Nonsense_Mutation_p.E651*|NRG3_ENST00000556918.1_Nonsense_Mutation_p.E481*|NRG3_ENST00000537893.1_Nonsense_Mutation_p.E301*|NRG3_ENST00000545131.1_Nonsense_Mutation_p.E301*|NRG3_ENST00000372142.2_Nonsense_Mutation_p.E454*			P56975	NRG3_HUMAN	neuregulin 3	675					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.E651*(1)|p.E454*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGAAGACTACGAACTGGCCAG	0.483																																						uc001kco.2																			2	Substitution - Nonsense(2)		lung(2)	lung(5)|breast(1)	6						c.(1951-1953)GAA>TAA		neuregulin 3 isoform 1							72.0	68.0	69.0					10																	84745221		2203	4300	6503	SO:0001587	stop_gained	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745221G>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2023G>T	10.37:g.84745221G>T	ENSP00000384796:p.Glu675*					NRG3_uc010qlz.1_Nonsense_Mutation_p.E650*|NRG3_uc001kcp.2_Nonsense_Mutation_p.E454*|NRG3_uc001kcq.2_Nonsense_Mutation_p.E301*|NRG3_uc001kcr.2_Nonsense_Mutation_p.E325*	p.E651*	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	1978	+			675			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Nonsense_Mutation	SNP	ENST00000404547.1	37	c.1951G>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963259	0.74016	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	.	.	.	5.54	5.54	0.83059	.	0.059384	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.9941	16.9886	0.86347	0.0:0.0:1.0:0.0	.	.	.	.	X	651;675;650;454;455;481;301;301	.	ENSP00000361214:E651X	E	+	1	0	NRG3	84735201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.668000	0.74457	2.615000	0.88500	0.655000	0.94253	GAA		PASS	0.483	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		4	38	4	38	---	---	---	---
CYP2C8	1558	broad.mit.edu	37	10	96798718	96798718	+	Silent	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:96798718A>G	ENST00000371270.3	-	8	1321	c.1227T>C	c.(1225-1227)ccT>ccC	p.P409P	CYP2C8_ENST00000535898.1_Silent_p.P307P	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	409					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.P409P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GAAAGTGGCCAGGGTCAAAGA	0.368																																						uc001kkb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1225-1227)CCT>CCC		cytochrome P450, family 2, subfamily C,	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						120.0	112.0	115.0					10																	96798718		2203	4300	6503	SO:0001819	synonymous_variant	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96798718A>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1227T>C	10.37:g.96798718A>G						CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Silent_p.P339P|CYP2C8_uc010qob.1_Silent_p.P323P|CYP2C8_uc010qoc.1_Silent_p.P307P|CYP2C8_uc010qod.1_3'UTR	p.P409P	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	8	1322	-		Colorectal(252;0.0397)	409					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	ENST00000371270.3	37	c.1227T>C	CCDS7438.1																																																																																				PASS	0.368	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		41	59	41	59	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105172873	105172873	+	Splice_Site	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:105172873G>A	ENST00000369797.3	+	9	1073	c.979G>A	c.(979-981)Gtg>Atg	p.V327M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	327	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.V327M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTTGTCTAGGTGAGGGCCTG	0.587																																						uc001kwy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(979-981)GTG>ATG		programmed cell death 11							87.0	70.0	76.0					10																	105172873		2203	4300	6503	SO:0001630	splice_region_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105172873G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.979-1G>A	10.37:g.105172873G>A							p.V327M	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	9	1066	+		Colorectal(252;0.0747)|Breast(234;0.128)	327			S1 motif 3.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.979G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472426	0.63737	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.24538	1.85	5.21	5.21	0.72293	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.059831	0.64402	D	0.000003	T	0.52677	0.1749	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.54337	-0.8309	9	.	.	.	-10.4019	16.9387	0.86210	0.0:0.0:1.0:0.0	.	327	Q14690	RRP5_HUMAN	M	327	ENSP00000358812:V327M	.	V	+	1	0	PDCD11	105162863	1.000000	0.71417	0.996000	0.52242	0.250000	0.25880	6.457000	0.73505	2.433000	0.82419	0.467000	0.42956	GTG		PASS	0.587	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		Missense_Mutation	10	73	10	73	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105762780	105762780	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:105762780A>T	ENST00000369755.3	+	9	2389	c.1844A>T	c.(1843-1845)aAa>aTa	p.K615I	SLK_ENST00000335753.4_Missense_Mutation_p.K615I	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	615	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.K615I(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGAAGGTAAAAATAAGGAA	0.368																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(1843-1845)AAA>ATA		serine/threonine kinase 2							45.0	44.0	45.0					10																	105762780		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105762780A>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1844A>T	10.37:g.105762780A>T	ENSP00000358770:p.Lys615Ile					SLK_uc001kxp.1_Missense_Mutation_p.K615I	p.K615I	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	1878	+		Colorectal(252;0.178)	615			Glu-rich.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.1844A>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	4.545	0.101121	0.08731	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.70516	-0.47;-0.49	5.46	-1.5	0.08691	Protein kinase-like domain (1);	0.910902	0.09679	N	0.769969	T	0.45196	0.1330	N	0.14661	0.345	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.06405	0.002;0.001	T	0.22382	-1.0218	10	0.38643	T	0.18	.	1.4083	0.02286	0.4378:0.2427:0.2022:0.1173	.	615;615	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	I	615	ENSP00000336824:K615I;ENSP00000358770:K615I	ENSP00000336824:K615I	K	+	2	0	SLK	105752770	0.229000	0.23729	0.001000	0.08648	0.363000	0.29612	0.310000	0.19356	-0.212000	0.10109	0.454000	0.30748	AAA		PASS	0.368	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		7	29	7	29	---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116602761	116602761	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:116602761G>T	ENST00000369248.4	+	6	927	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	FAM160B1_ENST00000369250.3_Missense_Mutation_p.D198Y	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	198								p.D198Y(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AAAAGGTCAGGATTCCTTGTC	0.378																																						uc001lcb.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(592-594)GAT>TAT		hypothetical protein LOC57700 isoform a							91.0	79.0	83.0					10																	116602761		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116602761G>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.592G>T	10.37:g.116602761G>T	ENSP00000358251:p.Asp198Tyr					FAM160B1_uc001lcc.2_Missense_Mutation_p.D198Y	p.D198Y	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			6	927	+			198					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.592G>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373241	0.61624	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.15372	2.43;2.43	5.75	5.75	0.90469	.	0.395239	0.33253	N	0.005106	T	0.30947	0.0781	L	0.50333	1.59	0.80722	D	1	B;B	0.30193	0.203;0.272	P;B	0.44732	0.459;0.235	T	0.04840	-1.0923	10	0.72032	D	0.01	-10.6485	18.1307	0.89600	0.0:0.0:1.0:0.0	.	198;198	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	Y	198	ENSP00000358251:D198Y;ENSP00000358253:D198Y	ENSP00000358251:D198Y	D	+	1	0	FAM160B1	116592751	0.982000	0.34865	0.710000	0.30468	0.977000	0.68977	4.336000	0.59304	2.732000	0.93576	0.655000	0.94253	GAT		PASS	0.378	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		11	79	11	79	---	---	---	---
MMP21	118856	broad.mit.edu	37	10	127464382	127464382	+	Silent	SNP	G	G	A	rs149511576		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:127464382G>A	ENST00000368808.3	-	1	8	c.9C>T	c.(7-9)gcC>gcT	p.A3A		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	3					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A3A(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	AGATGGAGGCGGCGAGCATTG	0.647																																						uc001liu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(7-9)GCC>GCT		matrix metalloproteinase 21 preproprotein		G		1,4405	2.1+/-5.4	0,1,2202	46.0	62.0	56.0		9	-7.7	0.0	10	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous	MMP21	NM_147191.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3/570	127464382	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127464382G>A	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.9C>T	10.37:g.127464382G>A							p.A3A	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			1	9	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	3					Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.9C>T	CCDS7647.1																																																																																				PASS	0.647	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			7	36	7	36	---	---	---	---
DHX32	55760	broad.mit.edu	37	10	127529443	127529443	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:127529443C>A	ENST00000284690.3	-	8	2156	c.1666G>T	c.(1666-1668)Gac>Tac	p.D556Y	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|AL360176.1_ENST00000401153.1_RNA|DHX32_ENST00000368721.1_Missense_Mutation_p.D180Y|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.D475Y	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	556						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.D556Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAGTTGTGTCTTGGTAAGCC	0.423																																						uc001ljf.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(1666-1668)GAC>TAC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32							207.0	189.0	195.0					10																	127529443		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127529443C>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1666G>T	10.37:g.127529443C>A	ENSP00000284690:p.Asp556Tyr					BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.D180Y|DHX32_uc001ljg.1_Missense_Mutation_p.D556Y|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	p.D556Y	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			8	2157	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	556					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1666G>T	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074226	0.36566	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.02763	4.17;4.17;4.17	4.75	4.75	0.60458	.	0.120124	0.56097	D	0.000026	T	0.02119	0.0066	N	0.08118	0	0.30736	N	0.74667	B	0.12630	0.006	B	0.06405	0.002	T	0.17167	-1.0378	10	0.87932	D	0	-42.1033	12.3843	0.55323	0.0:0.8302:0.1698:0.0	.	556	Q7L7V1	DHX32_HUMAN	Y	180;556;475	ENSP00000357710:D180Y;ENSP00000284690:D556Y;ENSP00000284688:D475Y	ENSP00000284688:D475Y	D	-	1	0	DHX32	127519433	0.053000	0.20554	0.814000	0.32528	0.991000	0.79684	1.549000	0.36212	2.470000	0.83445	0.655000	0.94253	GAC		PASS	0.423	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		80	76	80	76	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	133058677	133058677	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr10:133058677C>T	ENST00000368642.4	-	4	786	c.701G>A	c.(700-702)aGc>aAc	p.S234N		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	234								p.S193N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		ggcggGGCTGCTGGTCACCTT	0.687																																						uc001lkp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(700-702)AGC>AAC		transcription elongation regulator 1-like							17.0	16.0	17.0					10																	133058677		2176	4234	6410	SO:0001583	missense	256536							g.chr10:133058677C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.701G>A	10.37:g.133058677C>T	ENSP00000357631:p.Ser234Asn					TCERG1L_uc009yax.1_RNA	p.S234N	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	4	787	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	234					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.701G>A	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773643	0.16051	.	.	ENSG00000176769	ENST00000368642	T	0.27557	1.66	5.2	3.35	0.38373	.	0.765819	0.12655	N	0.450145	T	0.23846	0.0577	L	0.40543	1.245	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.22173	-1.0224	9	.	.	.	-2.3737	8.8904	0.35429	0.0:0.8364:0.0:0.1636	.	234	Q5VWI1	TCRGL_HUMAN	N	234	ENSP00000357631:S234N	.	S	-	2	0	TCERG1L	132948667	0.001000	0.12720	0.003000	0.11579	0.072000	0.16883	0.882000	0.28186	0.576000	0.29452	0.655000	0.94253	AGC		PASS	0.687	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		2	1	2	1	---	---	---	---
ARNTL	406	broad.mit.edu	37	11	13391207	13391207	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:13391207G>A	ENST00000403290.1	+	12	1068	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	ARNTL_ENST00000401424.1_Missense_Mutation_p.R195Q|ARNTL_ENST00000497429.1_Intron|ARNTL_ENST00000396441.3_Missense_Mutation_p.R238Q|ARNTL_ENST00000389708.3_Missense_Mutation_p.R238Q|ARNTL_ENST00000403510.3_Missense_Mutation_p.R195Q|ARNTL_ENST00000389707.4_Missense_Mutation_p.R238Q|ARNTL_ENST00000403482.3_Missense_Mutation_p.R236Q|ARNTL_ENST00000361003.4_Missense_Mutation_p.R238Q			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	238					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R238Q(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GGGCCATCTCGATTATGTTCT	0.453																																						uc001mkr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)CGA>CAA		aryl hydrocarbon receptor nuclear							178.0	168.0	172.0					11																	13391207		2200	4294	6494	SO:0001583	missense	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13391207G>A	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.713G>A	11.37:g.13391207G>A	ENSP00000384517:p.Arg238Gln					ARNTL_uc001mko.2_Missense_Mutation_p.R195Q|ARNTL_uc001mkp.2_Missense_Mutation_p.R238Q|ARNTL_uc001mkq.2_Missense_Mutation_p.R238Q|ARNTL_uc001mks.2_Missense_Mutation_p.R195Q|ARNTL_uc001mkt.2_Missense_Mutation_p.R238Q|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.R195Q|ARNTL_uc001mkv.1_Missense_Mutation_p.R195Q|ARNTL_uc001mkw.2_Missense_Mutation_p.R195Q|ARNTL_uc001mkx.2_Missense_Mutation_p.R236Q	p.R238Q	NM_001178	NP_001169	O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	12	1121	+			238					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37	c.713G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.323785	0.95708	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.53	4.61	0.57282	PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.52823	1.66	0.58432	D	0.999997	D;D;D;D;P;D	0.76494	0.999;0.992;0.992;0.999;0.897;0.994	D;P;P;D;B;P	0.80764	0.975;0.843;0.843;0.994;0.267;0.903	T	0.22417	-1.0217	10	0.87932	D	0	.	16.0495	0.80745	0.0:0.1346:0.8654:0.0	.	238;236;195;238;238;195	O00327-4;O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;.;BMAL1_HUMAN;.;.	Q	238;238;195;238;238;238;195;194;236	ENSP00000379718:R238Q;ENSP00000374357:R238Q;ENSP00000385915:R195Q;ENSP00000384517:R238Q;ENSP00000354278:R238Q;ENSP00000374358:R238Q;ENSP00000385581:R195Q;ENSP00000385897:R236Q	ENSP00000340289:R194Q	R	+	2	0	ARNTL	13347783	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	1.322000	0.45245	-0.176000	0.13171	CGA		PASS	0.453	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		23	101	23	101	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20625906	20625906	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:20625906G>T	ENST00000525748.1	+	3	888	c.615G>T	c.(613-615)gtG>gtT	p.V205V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	205					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V205V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGTCCATGGTGGGGTACGCAG	0.607																																						uc001mqd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(613-615)GTG>GTT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						137.0	126.0	130.0					11																	20625906		2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20625906G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.615G>T	11.37:g.20625906G>T						SLC6A5_uc009yic.2_Intron	p.V205V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			3	888	+			205			Helical; Name=1; (Potential).		O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.615G>T	CCDS7854.1																																																																																				PASS	0.607	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		17	185	17	185	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22261201	22261201	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:22261201C>T	ENST00000324559.8	+	9	1166	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	283					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.F283F(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCCTATTTCTACAAGGAGC	0.368																																						uc001mqi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(847-849)TTC>TTT		anoctamin 5 isoform a							113.0	115.0	115.0					11																	22261201		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22261201C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.849C>T	11.37:g.22261201C>T						ANO5_uc001mqj.2_Silent_p.F282F	p.F283F	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			9	1166	+			283			Cytoplasmic (Potential).			Silent	SNP	ENST00000324559.8	37	c.849C>T	CCDS31444.1																																																																																				PASS	0.368	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		21	142	21	142	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371517	55371517	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:55371517A>C	ENST00000302231.4	-	1	357	c.333T>G	c.(331-333)ttT>ttG	p.F111L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F111L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GAATGAGGACAAAGATCTCCA	0.433																																						uc010rii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(331-333)TTT>TTG		olfactory receptor, family 4, subfamily C,							103.0	87.0	92.0					11																	55371517		2179	4004	6183	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371517A>C	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.333T>G	11.37:g.55371517A>C	ENSP00000306651:p.Phe111Leu						p.F111L	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	333	-			111			Helical; Name=3; (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.333T>G	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	7.343	0.621332	0.14193	.	.	ENSG00000172188	ENST00000302231	T	0.01272	5.07	4.34	0.298	0.15766	GPCR, rhodopsin-like superfamily (1);	0.147872	0.31370	U	0.007780	T	0.01156	0.0038	L	0.33485	1.01	0.09310	N	0.99999	B	0.14438	0.01	B	0.10450	0.005	T	0.46414	-0.9193	10	0.40728	T	0.16	.	3.9509	0.09369	0.3948:0.3759:0.2293:0.0	.	111	Q6IEV9	OR4CB_HUMAN	L	111	ENSP00000306651:F111L	ENSP00000306651:F111L	F	-	3	2	OR4C11	55128093	0.000000	0.05858	0.969000	0.41365	0.254000	0.26022	-1.308000	0.02730	0.280000	0.22209	0.391000	0.25812	TTT		PASS	0.433	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		8	98	8	98	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735200	55735200	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:55735200G>C	ENST00000312345.2	-	1	790	c.740C>G	c.(739-741)aCt>aGt	p.T247S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, 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.T247S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATAAGTGATAGTACCTGCTCC	0.383																																						uc010rit.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(739-741)ACT>AGT		olfactory receptor, family 10, subfamily AG,							68.0	67.0	67.0					11																	55735200		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735200G>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.740C>G	11.37:g.55735200G>C	ENSP00000311477:p.Thr247Ser						p.T247S	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	740	-	Esophageal squamous(21;0.0137)		247			Helical; Name=6; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.740C>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	0.591	-0.833093	0.02713	.	.	ENSG00000174970	ENST00000312345	T	0.37058	1.22	5.37	-4.2	0.03823	GPCR, rhodopsin-like superfamily (1);	1.572510	0.03413	N	0.205156	T	0.15522	0.0374	N	0.02973	-0.45	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.19712	-1.0297	10	0.33940	T	0.23	.	7.2198	0.25979	0.378:0.3442:0.2779:0.0	.	247	Q8NH19	O10AG_HUMAN	S	247	ENSP00000311477:T247S	ENSP00000311477:T247S	T	-	2	0	OR10AG1	55491776	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	-0.152000	0.10159	-0.590000	0.05866	0.477000	0.44152	ACT		PASS	0.383	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		29	33	29	33	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904834	55904834	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:55904834C>A	ENST00000301529.1	-	1	360	c.361G>T	c.(361-363)Gac>Tac	p.D121Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D121Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACATAGCGGTCATAGGCCATC	0.498																																						uc010riz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(361-363)GAC>TAC		olfactory receptor, family 8, subfamily J,							148.0	135.0	139.0					11																	55904834		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904834C>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.361G>T	11.37:g.55904834C>A	ENSP00000301529:p.Asp121Tyr						p.D121Y	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	361	-	Esophageal squamous(21;0.00693)		121			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.361G>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976953	0.74360	.	.	ENSG00000167822	ENST00000301529	T	0.54479	0.57	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	D	0.82733	0.5101	H	0.98901	4.365	0.44660	D	0.997644	D	0.89917	1.0	D	0.97110	1.0	D	0.89999	0.4113	10	0.87932	D	0	.	14.4534	0.67401	0.0:1.0:0.0:0.0	.	121	Q8NGG0	OR8J3_HUMAN	Y	121	ENSP00000301529:D121Y	ENSP00000301529:D121Y	D	-	1	0	OR8J3	55661410	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	6.442000	0.73443	1.548000	0.49413	0.289000	0.19496	GAC		PASS	0.498	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		15	114	15	114	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56086669	56086669	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:56086669T>A	ENST00000312711.1	+	1	887	c.887T>A	c.(886-888)gTa>gAa	p.V296E		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V296E(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AACAAAGATGTAAAATATGCC	0.323																																						uc010rjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(886-888)GTA>GAA		olfactory receptor, family 8, subfamily K,							60.0	55.0	56.0					11																	56086669		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086669T>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.887T>A	11.37:g.56086669T>A	ENSP00000323555:p.Val296Glu						p.V296E	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	887	+	Esophageal squamous(21;0.00448)		296			Cytoplasmic (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.887T>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501289	0.44455	.	.	ENSG00000181689	ENST00000312711	T	0.39997	1.05	4.18	4.18	0.49190	.	0.000000	0.51477	D	0.000099	T	0.75867	0.3908	H	0.98446	4.235	0.38853	D	0.956315	D	0.71674	0.998	D	0.71184	0.972	D	0.85814	0.1381	10	0.87932	D	0	.	12.487	0.55879	0.0:0.0:0.0:1.0	.	296	Q8NH51	OR8K3_HUMAN	E	296	ENSP00000323555:V296E	ENSP00000323555:V296E	V	+	2	0	OR8K3	55843245	0.907000	0.30839	0.885000	0.34714	0.015000	0.08874	4.039000	0.57325	1.888000	0.54679	0.386000	0.25728	GTA		PASS	0.323	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		29	29	29	29	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56127868	56127868	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:56127868C>A	ENST00000303039.3	+	1	178	c.146C>A	c.(145-147)aCc>aAc	p.T49N		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T49N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATCACCCTCACCAGTGTTGAC	0.507																																						uc010rjh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(145-147)ACC>AAC		olfactory receptor, family 8, subfamily J,							162.0	147.0	152.0					11																	56127868		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127868C>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.146C>A	11.37:g.56127868C>A	ENSP00000304060:p.Thr49Asn						p.T49N	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	146	+	Esophageal squamous(21;0.00448)		49			Cytoplasmic (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.146C>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300860	0.60195	.	.	ENSG00000172487	ENST00000303039	T	0.03035	4.07	4.05	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.090101	0.48767	D	0.000167	T	0.17408	0.0418	M	0.90309	3.105	0.21933	N	0.999468	P	0.42973	0.796	P	0.59889	0.865	T	0.01566	-1.1323	10	0.87932	D	0	.	7.5856	0.27991	0.0:0.7983:0.0:0.2017	.	49	Q8NGP2	OR8J1_HUMAN	N	49	ENSP00000304060:T49N	ENSP00000304060:T49N	T	+	2	0	OR8J1	55884444	0.001000	0.12720	0.997000	0.53966	0.981000	0.71138	1.045000	0.30341	1.053000	0.40415	0.643000	0.83706	ACC		PASS	0.507	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		57	59	57	59	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62298396	62298396	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:62298396C>T	ENST00000378024.4	-	5	3767	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1165					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E1165K(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGGGCTTCGATGTCCACC	0.552																																						uc001ntl.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3493-3495)GAA>AAA		AHNAK nucleoprotein isoform 1							159.0	156.0	157.0					11																	62298396		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298396C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3493G>A	11.37:g.62298396C>T	ENSP00000367263:p.Glu1165Lys					AHNAK_uc001ntk.1_Intron	p.E1165K	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3793	-		Melanoma(852;0.155)	1165					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3493G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	1.344	-0.593314	0.03771	.	.	ENSG00000124942	ENST00000378024	T	0.00526	6.8	4.99	3.1	0.35709	.	3.241920	0.01171	N	0.006878	T	0.00524	0.0017	L	0.45137	1.4	0.09310	N	1	P	0.46512	0.879	B	0.41946	0.371	T	0.56559	-0.7959	10	0.06236	T	0.91	.	8.6286	0.33906	0.0:0.7602:0.0:0.2398	.	1165	Q09666	AHNK_HUMAN	K	1165	ENSP00000367263:E1165K	ENSP00000367263:E1165K	E	-	1	0	AHNAK	62054972	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-0.271000	0.08572	1.124000	0.41980	0.645000	0.84053	GAA		PASS	0.552	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		99	97	99	97	---	---	---	---
SYVN1	84447	broad.mit.edu	37	11	64898161	64898161	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:64898161G>A	ENST00000377190.3	-	11	1170	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	SYVN1_ENST00000526060.1_Missense_Mutation_p.P359L|SYVN1_ENST00000294256.8_Missense_Mutation_p.P359L|SYVN1_ENST00000307289.6_Missense_Mutation_p.P308L|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	359	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.P359L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GAGTGGTGGGGGGTGGGGGGC	0.657																																						uc001odb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1075-1077)CCC>CTC		synoviolin 1 isoform b							8.0	11.0	10.0					11																	64898161		1584	3350	4934	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64898161G>A	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1076C>T	11.37:g.64898161G>A	ENSP00000366395:p.Pro359Leu					SYVN1_uc001odc.2_Missense_Mutation_p.P359L|SYVN1_uc009yqc.2_Missense_Mutation_p.P308L	p.P359L	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN			11	1170	-			359			Pro-rich.|Cytoplasmic (Potential).		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.1076C>T	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	G	7.460	0.644530	0.14451	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.12039	2.72;2.73;2.89;2.73	5.22	4.22	0.49857	.	0.454400	0.18796	N	0.130912	T	0.10508	0.0257	L	0.29908	0.895	0.18873	N	0.999984	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.14839	-1.0458	10	0.28530	T	0.3	-12.1252	11.768	0.51941	0.0:0.0:0.8125:0.1875	.	308;359;359	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	L	359;359;359;308;359	ENSP00000366395:P359L;ENSP00000294256:P359L;ENSP00000302035:P308L;ENSP00000436984:P359L	ENSP00000294256:P359L	P	-	2	0	SYVN1	64654737	0.679000	0.27596	0.104000	0.21259	0.045000	0.14185	1.624000	0.37018	2.426000	0.82243	0.462000	0.41574	CCC		PASS	0.657	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		8	10	8	10	---	---	---	---
EFEMP2	30008	broad.mit.edu	37	11	65634506	65634506	+	Silent	SNP	C	C	T	rs3182964		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:65634506C>T	ENST00000307998.6	-	11	1445	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	MUS81_ENST00000525006.1_Intron|EFEMP2_ENST00000528176.1_Intron|EFEMP2_ENST00000532648.1_5'UTR	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	405					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.V405V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGGGGCCCGTCACCGGCCGGG	0.607																																						uc001ofy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1213-1215)GTG>GTA		EGF-containing fibulin-like extracellular matrix							66.0	64.0	64.0					11																	65634506		2201	4296	6497	SO:0001819	synonymous_variant	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65634506C>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1215G>A	11.37:g.65634506C>T						EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Intron	p.V405V	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	11	1409	-			405					A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	c.1215G>A	CCDS8116.1																																																																																				PASS	0.607	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		72	30	72	30	---	---	---	---
MTL5	9633	broad.mit.edu	37	11	68518014	68518014	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:68518014C>A	ENST00000255087.5	-	2	298	c.115G>T	c.(115-117)Gtg>Ttg	p.V39L	MTL5_ENST00000443940.2_Missense_Mutation_p.V39L|MTL5_ENST00000544963.1_Missense_Mutation_p.V39L|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	39					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V39L(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCGTACTTCACGGGGGCCTTC	0.667																																						uc001ooc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(115-117)GTG>TTG		metallothionein-like 5, testis-specific isoform							23.0	18.0	20.0					11																	68518014		2197	4294	6491	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68518014C>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.115G>T	11.37:g.68518014C>A	ENSP00000255087:p.Val39Leu					MTL5_uc001ood.1_Missense_Mutation_p.V39L|MTL5_uc009ysi.1_Missense_Mutation_p.V39L|MTL5_uc001ooe.2_Missense_Mutation_p.V39L	p.V39L	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	255	-	Esophageal squamous(3;4.37e-12)		39					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.115G>T	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	c	14.95	2.687367	0.48097	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.49720	1.4;0.77;1.36	3.71	0.446	0.16602	.	0.669670	0.12175	N	0.492692	T	0.25082	0.0609	N	0.19112	0.55	0.09310	N	1	B;B;B	0.33103	0.397;0.397;0.145	B;B;B	0.25759	0.063;0.063;0.02	T	0.10451	-1.0629	10	0.38643	T	0.18	-3.5158	5.0323	0.14417	0.0:0.5491:0.0:0.4509	.	39;22;39	Q9Y4I5-3;Q6PHY4;Q9Y4I5	.;.;MTL5_HUMAN	L	39	ENSP00000255087:V39L;ENSP00000403086:V39L;ENSP00000440968:V39L	ENSP00000255087:V39L	V	-	1	0	MTL5	68274590	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	0.455000	0.21843	0.265000	0.21872	0.306000	0.20318	GTG		PASS	0.667	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		14	12	14	12	---	---	---	---
IGHMBP2	3508	broad.mit.edu	37	11	68685319	68685319	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:68685319C>G	ENST00000255078.3	+	7	1139	c.1028C>G	c.(1027-1029)aCt>aGt	p.T343S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	343	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.T343S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGAGCCTCACTTCGGCAAAC	0.488																																						uc001ook.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)ACT>AGT		immunoglobulin mu binding protein 2							96.0	84.0	88.0					11																	68685319		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68685319C>G	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1028C>G	11.37:g.68685319C>G	ENSP00000255078:p.Thr343Ser					IGHMBP2_uc001ooj.1_RNA	p.T343S	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		7	1130	+			343			Leu-rich.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1028C>G	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	0.229	-1.022721	0.02061	.	.	ENSG00000132740	ENST00000255078	D	0.81579	-1.51	4.9	1.87	0.25490	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	0.625107	0.16037	N	0.232609	T	0.56529	0.1991	N	0.04063	-0.285	0.09310	N	0.999998	B	0.12013	0.005	B	0.11329	0.006	T	0.36163	-0.9759	10	0.09084	T	0.74	-22.293	10.4465	0.44497	0.1399:0.4527:0.4075:0.0	.	343	P38935	SMBP2_HUMAN	S	343	ENSP00000255078:T343S	ENSP00000255078:T343S	T	+	2	0	IGHMBP2	68441895	0.003000	0.15002	0.007000	0.13788	0.116000	0.19942	0.825000	0.27393	0.090000	0.17273	0.555000	0.69702	ACT		PASS	0.488	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		98	41	98	41	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89883651	89883651	+	Splice_Site	SNP	G	G	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:89883651G>C	ENST00000534061.1	+	5	715	c.485G>C	c.(484-486)gGa>gCa	p.G162A	NAALAD2_ENST00000375944.3_Splice_Site_p.G162A|NAALAD2_ENST00000525171.1_Splice_Site_p.G162A|NAALAD2_ENST00000321955.4_Splice_Site_p.G162A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	162					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.G162A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCCCTATAGGGAGATCTTGTA	0.299																																						uc001pdf.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(484-486)GGA>GCA		N-acetylated alpha-linked acidic dipeptidase 2							57.0	59.0	58.0					11																	89883651		2200	4298	6498	SO:0001630	splice_region_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89883651G>C	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.484-1G>C	11.37:g.89883651G>C						NAALAD2_uc009yvx.2_Missense_Mutation_p.G162A|NAALAD2_uc009yvy.2_Missense_Mutation_p.G162A|NAALAD2_uc001pdd.2_Missense_Mutation_p.G162A|NAALAD2_uc001pde.2_Missense_Mutation_p.G162A	p.G162A	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			5	594	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	162			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.485G>C	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525352	0.64747	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.13	5.13	0.70059	Protease-associated domain, PA (1);	0.085656	0.48767	D	0.000174	T	0.17534	0.0421	L	0.41356	1.27	0.51482	D	0.999921	P;P;P;P;P	0.52316	0.926;0.856;0.952;0.893;0.926	P;P;P;B;P	0.60286	0.831;0.872;0.739;0.346;0.739	T	0.00852	-1.1540	9	.	.	.	-15.591	14.6188	0.68569	0.0:0.1899:0.8101:0.0	.	162;162;162;162;162	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	A	162	ENSP00000432481:G162A;ENSP00000320083:G162A;ENSP00000435249:G162A;ENSP00000365111:G162A	.	G	+	2	0	NAALAD2	89523299	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.969000	0.63735	2.410000	0.81850	0.586000	0.80456	GGA		PASS	0.299	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	Missense_Mutation	64	39	64	39	---	---	---	---
ALKBH8	91801	broad.mit.edu	37	11	107422636	107422636	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:107422636G>C	ENST00000428149.2	-	6	749	c.598C>G	c.(598-600)Ctt>Gtt	p.L200V	ALKBH8_ENST00000389568.3_Missense_Mutation_p.L200V|ALKBH8_ENST00000417449.2_Missense_Mutation_p.L203V|ALKBH8_ENST00000429370.1_Missense_Mutation_p.L200V|ALKBH8_ENST00000530933.1_5'Flank	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	200					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)	p.L200V(2)|p.L203V(1)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		ATGTCAGGAAGACCTACAATG	0.313																																						uc010rvr.1																			3	Substitution - Missense(3)		lung(3)		0						c.(598-600)CTT>GTT		alkB, alkylation repair homolog 8							69.0	63.0	65.0					11																	107422636		2199	4295	6494	SO:0001583	missense	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107422636G>C	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.598C>G	11.37:g.107422636G>C	ENSP00000415885:p.Leu200Val					ALKBH8_uc001pjk.2_5'UTR|ALKBH8_uc010rvq.1_Missense_Mutation_p.L63V|ALKBH8_uc009yxp.2_Missense_Mutation_p.L200V|ALKBH8_uc001pjl.2_RNA	p.L200V	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	6	673	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	200					B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	c.598C>G	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799930	0.50208	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.31769	2.77;1.48;2.77;2.77	5.77	5.77	0.91146	.	0.144833	0.44902	D	0.000413	T	0.49966	0.1588	M	0.64997	1.995	0.52501	D	0.999954	D	0.57899	0.981	P	0.56514	0.8	T	0.47018	-0.9149	10	0.66056	D	0.02	-18.8475	18.9776	0.92743	0.0:0.0:1.0:0.0	.	200	Q96BT7	ALKB8_HUMAN	V	200;200;200;203	ENSP00000415885:L200V;ENSP00000391225:L200V;ENSP00000374219:L200V;ENSP00000397673:L203V	ENSP00000260318:L200V	L	-	1	0	ALKBH8	106927846	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	3.698000	0.54771	2.730000	0.93505	0.655000	0.94253	CTT		PASS	0.313	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		37	30	37	30	---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113281606	113281606	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:113281606G>T	ENST00000362072.3	-	8	1519	c.1175C>A	c.(1174-1176)aCa>aAa	p.T392K	DRD2_ENST00000544518.1_Missense_Mutation_p.T391K|DRD2_ENST00000542968.1_Missense_Mutation_p.T392K|DRD2_ENST00000346454.3_Missense_Mutation_p.T363K|DRD2_ENST00000355319.2_Missense_Mutation_p.T394K|DRD2_ENST00000538967.1_Missense_Mutation_p.T394K|RP11-159N11.3_ENST00000546284.1_RNA	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	392	Agonist binding. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.T392K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGGATGTGTGTGATGAAGAA	0.607																																						uc001pnz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1174-1176)ACA>AAA		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						185.0	135.0	152.0					11																	113281606		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113281606G>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1175C>A	11.37:g.113281606G>T	ENSP00000354859:p.Thr392Lys					DRD2_uc010rwv.1_Missense_Mutation_p.T391K|DRD2_uc001poa.3_Missense_Mutation_p.T392K|DRD2_uc001pob.3_Missense_Mutation_p.T363K	p.T392K	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	7	1496	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	392			Agonist binding (By similarity).|Helical; Name=6; (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.1175C>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054695	0.75960	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.86	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.042190	0.85682	D	0.000000	D	0.85217	0.5646	M	0.81179	2.53	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.993;0.979	D;D;D	0.76575	0.988;0.956;0.953	D	0.86599	0.1865	10	0.72032	D	0.01	.	11.0996	0.48166	0.1412:0.0:0.8588:0.0	.	391;363;392	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	K	394;363;392;391;392;394	ENSP00000347474:T394K;ENSP00000278597:T363K;ENSP00000354859:T392K;ENSP00000441068:T391K;ENSP00000442172:T392K;ENSP00000438215:T394K	ENSP00000278597:T363K	T	-	2	0	DRD2	112786816	1.000000	0.71417	0.969000	0.41365	0.622000	0.37654	8.043000	0.89432	1.481000	0.48307	-0.140000	0.14226	ACA		PASS	0.607	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		9	76	9	76	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121016448	121016448	+	Missense_Mutation	SNP	G	G	A	rs376745254	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:121016448G>A	ENST00000392793.1	+	12	3999	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1243	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R1243H(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGTGTGGCCGCTACAACGGC	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		22520	0.0		0.0	False		,,,				2504	0.002					uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(3727-3729)CGC>CAC		tectorin alpha precursor		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	151.0	122.0	132.0		3728	4.8	1.0	11		132	0,8598		0,0,4299	no	missense	TECTA	NM_005422.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1243/2156	121016448	1,13003	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121016448G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3728G>A	11.37:g.121016448G>A	ENSP00000376543:p.Arg1243His						p.R1243H	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	11	3728	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1243			VWFD 3.			Missense_Mutation	SNP	ENST00000392793.1	37	c.3728G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782117	0.70222	2.27E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59772	0.24;0.24	5.76	4.85	0.62838	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000005	T	0.55016	0.1894	L	0.36672	1.1	0.33742	D	0.619606	D	0.56287	0.975	P	0.50270	0.636	T	0.67632	-0.5621	10	0.59425	D	0.04	.	11.5134	0.50507	0.137:0.0:0.863:0.0	.	1243	O75443	TECTA_HUMAN	H	1243	ENSP00000376543:R1243H;ENSP00000264037:R1243H	ENSP00000264037:R1243H	R	+	2	0	TECTA	120521658	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.363000	0.44178	2.721000	0.93114	0.591000	0.81541	CGC		PASS	0.532	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		18	89	18	89	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123894283	123894283	+	Nonsense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:123894283T>A	ENST00000375024.1	+	1	564	c.564T>A	c.(562-564)tgT>tgA	p.C188*		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C188*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		AACTGGCCTGTGCAGACACCT	0.522																																						uc010sad.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(562-564)TGT>TGA		olfactory receptor, family 10, subfamily G,							253.0	222.0	232.0					11																	123894283		2201	4299	6500	SO:0001587	stop_gained	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894283T>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.564T>A	11.37:g.123894283T>A	ENSP00000364164:p.Cys188*						p.C188*	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	564	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	188			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000375024.1	37	c.564T>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.575724	0.65878	.	.	ENSG00000236981	ENST00000375024	.	.	.	3.48	2.34	0.29019	.	0.000000	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2963	0.15754	0.0:0.3516:0.0:0.6484	.	.	.	.	X	188	.	ENSP00000364164:C188X	C	+	3	2	OR10G9	123399493	0.000000	0.05858	1.000000	0.80357	0.686000	0.39977	-0.334000	0.07883	0.533000	0.28675	0.533000	0.62120	TGT		PASS	0.522	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		24	229	24	229	---	---	---	---
SIAE	54414	broad.mit.edu	37	11	124524593	124524593	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:124524593C>T	ENST00000263593.3	-	4	674	c.502G>A	c.(502-504)Gac>Aac	p.D168N	SIAE_ENST00000545756.1_Missense_Mutation_p.D133N			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	168					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)	p.D168N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GCAACAAGGTCCTCCAGCTCC	0.502																																						uc001qan.2																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)GAC>AAC		sialate O-acetylesterase precursor							157.0	151.0	153.0					11																	124524593		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124524593C>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.502G>A	11.37:g.124524593C>T	ENSP00000263593:p.Asp168Asn						p.D168N	NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	4	615	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	168					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.502G>A	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388182	0.82902	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.94966	-3.57;-3.57	5.6	4.69	0.59074	Esterase, SGNH hydrolase-type (1);	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	L	0.52266	1.64	0.49798	D	0.999821	P	0.36171	0.541	P	0.51742	0.678	D	0.93996	0.7271	10	0.42905	T	0.14	-13.4332	13.1741	0.59615	0.0:0.9224:0.0:0.0776	.	168	Q9HAT2	SIAE_HUMAN	N	168;133	ENSP00000263593:D168N;ENSP00000437877:D133N	ENSP00000263593:D168N	D	-	1	0	SIAE	124029803	1.000000	0.71417	0.965000	0.40720	0.498000	0.33706	3.765000	0.55272	1.360000	0.45960	0.643000	0.83706	GAC		PASS	0.502	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		31	177	31	177	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129772364	129772364	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:129772364T>A	ENST00000360871.3	-	21	3546	c.3315A>T	c.(3313-3315)caA>caT	p.Q1105H	PRDM10_ENST00000526082.1_Missense_Mutation_p.Q1023H|PRDM10_ENST00000423662.2_Missense_Mutation_p.Q1010H|PRDM10_ENST00000528746.1_Missense_Mutation_p.Q1066H|PRDM10_ENST00000358825.5_Missense_Mutation_p.Q1109H|PRDM10_ENST00000304538.6_Missense_Mutation_p.Q972H	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1096					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.Q1105H(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGCAGAAGTTTGCTTTTCTT	0.493																																						uc001qfm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(3325-3327)CAA>CAT		PR domain containing 10 isoform 1							162.0	144.0	150.0					11																	129772364		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129772364T>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3315A>T	11.37:g.129772364T>A	ENSP00000354118:p.Gln1105His					PRDM10_uc001qfj.2_Missense_Mutation_p.Q1010H|PRDM10_uc001qfk.2_Missense_Mutation_p.Q972H|PRDM10_uc001qfl.2_Missense_Mutation_p.Q1023H|PRDM10_uc010sbx.1_Missense_Mutation_p.Q1019H|PRDM10_uc001qfn.2_Missense_Mutation_p.Q1105H	p.Q1109H	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	22	3559	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1096					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.3327A>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532196	0.45073	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.13901	2.69;2.55;2.69;2.7;2.76;2.67;2.77	5.66	2.02	0.26589	.	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	L	0.29908	0.895	0.35169	D	0.771414	P;P;P;D;P;P	0.56035	0.956;0.936;0.894;0.974;0.936;0.936	P;P;B;P;P;P	0.51135	0.459;0.568;0.365;0.66;0.568;0.568	T	0.20706	-1.0267	10	0.87932	D	0	-23.3782	5.2127	0.15327	0.1337:0.3644:0.0:0.5019	.	1019;1105;1096;1023;972;1010	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	H	1109;972;1105;1010;1066;1023;822	ENSP00000351686:Q1109H;ENSP00000302669:Q972H;ENSP00000354118:Q1105H;ENSP00000398431:Q1010H;ENSP00000431262:Q1066H;ENSP00000432237:Q1023H;ENSP00000435940:Q822H	ENSP00000302669:Q972H	Q	-	3	2	PRDM10	129277574	0.090000	0.21635	0.561000	0.28357	0.384000	0.30261	0.389000	0.20751	0.090000	0.17273	-0.376000	0.06991	CAA		PASS	0.493	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		15	51	15	51	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	993955	993955	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:993955A>G	ENST00000315939.6	+	19	4628	c.3985A>G	c.(3985-3987)Aca>Gca	p.T1329A	WNK1_ENST00000340908.4_Missense_Mutation_p.T922A|WNK1_ENST00000530271.2_Missense_Mutation_p.T1827A|WNK1_ENST00000537687.1_Missense_Mutation_p.T1589A|WNK1_ENST00000535572.1_Missense_Mutation_p.T1082A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1329					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.T1589A(1)|p.T1329A(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)			CTTTAGTCATACAGGACCAAC	0.498																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3985-3987)ACA>GCA		WNK lysine deficient protein kinase 1							121.0	106.0	111.0					12																	993955		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993955A>G	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.3985A>G	12.37:g.993955A>G	ENSP00000313059:p.Thr1329Ala					WNK1_uc001qip.3_Missense_Mutation_p.T1082A|WNK1_uc001qir.3_Missense_Mutation_p.T502A	p.T1329A	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	4492	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1329					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3985A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	9.139	1.013429	0.19277	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.75	3.36	0.38483	.	0.570582	0.17931	N	0.157174	T	0.14141	0.0342	N	0.11201	0.11	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.11329	0.006;0.003;0.001	T	0.22906	-1.0203	10	0.21014	T	0.42	-0.1788	6.2216	0.20685	0.7095:0.156:0.1345:0.0	.	1082;1082;1329	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	A	1082;1329;1589;502;1827;922	ENSP00000441972:T1082A;ENSP00000313059:T1329A;ENSP00000444465:T1589A;ENSP00000433548:T1827A;ENSP00000341292:T922A	ENSP00000252477:T502A	T	+	1	0	WNK1	864216	0.016000	0.18221	0.150000	0.22450	0.919000	0.55068	1.389000	0.34453	0.970000	0.38263	0.533000	0.62120	ACA		PASS	0.498	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		65	53	65	53	---	---	---	---
A2M	2	broad.mit.edu	37	12	9262611	9262611	+	Silent	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:9262611G>A	ENST00000318602.7	-	6	832	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	175					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.I175I(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GCCATTGTGCGATGCGATTTC	0.433																																						uc001qvk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(523-525)ATC>ATT		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						110.0	116.0	114.0					12																	9262611		2005	4225	6230	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9262611G>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.525C>T	12.37:g.9262611G>A						A2M_uc009zgk.1_Silent_p.I25I	p.I175I	NM_000014	NP_000005	P01023	A2MG_HUMAN			6	638	-			175					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.525C>T	CCDS44827.1																																																																																				PASS	0.433	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		99	106	99	106	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11508439	11508439	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:11508439G>T	ENST00000500254.2	-	1	86	c.49C>A	c.(49-51)Cag>Aag	p.Q17K	PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Missense_Mutation_p.Q17K	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	17						extracellular region (GO:0005576)		p.Q17K(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTAAGTTCTGAGCTGAGCTC	0.517																																						uc001qzw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)CAG>AAG		proline-rich protein BstNI subfamily 1 isoform 1							105.0	98.0	100.0					12																	11508439		2172	4276	6448	SO:0001583	missense	5542					extracellular region		g.chr12:11508439G>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.49C>A	12.37:g.11508439G>T	ENSP00000420826:p.Gln17Lys					PRB1_uc001qzu.1_Missense_Mutation_p.Q17K|PRB1_uc001qzv.1_Missense_Mutation_p.Q17K	p.Q17K	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		1	86	-			17					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.49C>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	4.585	0.108671	0.08780	.	.	ENSG00000251655	ENST00000545626;ENST00000500254	T;T	0.24538	1.85;3.33	1.39	-0.709	0.11237	.	.	.	.	.	T	0.21103	0.0508	M	0.62723	1.935	0.09310	N	1	B;B;B	0.14438	0.005;0.01;0.005	B;B;B	0.10450	0.003;0.005;0.005	T	0.39418	-0.9615	9	0.12766	T	0.61	.	7.1647	0.25683	0.0:0.5503:0.4497:0.0	.	24;17;17	Q86YA1;G3V1R1;G3V1M9	.;.;.	K	17	ENSP00000444249:Q17K;ENSP00000420826:Q17K	ENSP00000420826:Q17K	Q	-	1	0	PRB1	11399706	0.672000	0.27530	0.022000	0.16811	0.013000	0.08279	0.473000	0.22132	-0.221000	0.09973	-0.230000	0.12252	CAG		PASS	0.517	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		70	86	70	86	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26864171	26864171	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:26864171C>T	ENST00000381340.3	-	9	1302	c.886G>A	c.(886-888)Gca>Aca	p.A296T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	296	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.A296T(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CACTGTCCTGCACCCCCACGG	0.418																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(886-888)GCA>ACA		inositol 1,4,5-triphosphate receptor, type 2							99.0	96.0	97.0					12																	26864171		2000	4182	6182	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26864171C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.886G>A	12.37:g.26864171C>T	ENSP00000370744:p.Ala296Thr						p.A296T	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			9	1303	-	Colorectal(261;0.0847)		296			Cytoplasmic (Potential).|MIR 4.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.886G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446203	0.96187	.	.	ENSG00000123104	ENST00000381340	D	0.91945	-2.94	5.64	5.64	0.86602	MIR motif (2);MIR (2);	0.112422	0.64402	D	0.000010	D	0.95538	0.8550	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92746	0.6212	10	0.20519	T	0.43	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	296	Q14571	ITPR2_HUMAN	T	296	ENSP00000370744:A296T	ENSP00000370744:A296T	A	-	1	0	ITPR2	26755438	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.596000	0.82721	2.937000	0.99478	0.650000	0.86243	GCA		PASS	0.418	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		11	123	11	123	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41946553	41946553	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:41946553C>A	ENST00000402685.2	+	6	1307	c.1299C>A	c.(1297-1299)agC>agA	p.S433R	PDZRN4_ENST00000298919.7_Missense_Mutation_p.S173R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.S175R	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	433	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S433R(1)|p.S175R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTTATGTCAGCGAGGTAAGAA	0.488																																						uc010skn.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(700-702)AGC>AGA		PDZ domain containing RING finger 4 isoform 2							104.0	93.0	97.0					12																	41946553		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41946553C>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1299C>A	12.37:g.41946553C>A	ENSP00000384197:p.Ser433Arg					PDZRN4_uc001rmq.3_Missense_Mutation_p.S175R|PDZRN4_uc009zjz.2_Missense_Mutation_p.S173R|PDZRN4_uc001rmr.2_Missense_Mutation_p.S60R	p.S234R	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			6	770	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	433			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.702C>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321117	0.60634	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.33654	1.4;1.4;1.4	5.04	2.2	0.27929	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	L	0.49571	1.57	0.49687	D	0.999811	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.81914	0.994;0.995;0.924	T	0.39941	-0.9589	10	0.72032	D	0.01	-16.489	7.6017	0.28079	0.0:0.5214:0.0:0.4786	.	433;173;175	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	R	433;175;173	ENSP00000384197:S433R;ENSP00000439990:S175R;ENSP00000298919:S173R	ENSP00000298919:S173R	S	+	3	2	PDZRN4	40232820	0.037000	0.19845	0.999000	0.59377	0.839000	0.47603	-0.700000	0.05081	0.360000	0.24265	0.563000	0.77884	AGC		PASS	0.488	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		38	37	38	37	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50190450	50190450	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:50190450T>C	ENST00000335999.6	-	8	1394	c.1193A>G	c.(1192-1194)gAg>gGg	p.E398G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	394	Pro-rich.							p.E398G(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCCTGGCCCTCTGAGGTAGC	0.652																																						uc009zlk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1192-1194)GAG>GGG		NCK-associated protein 5-like							18.0	21.0	20.0					12																	50190450		1865	4072	5937	SO:0001583	missense	57701							g.chr12:50190450T>C	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1193A>G	12.37:g.50190450T>C	ENSP00000337998:p.Glu398Gly					NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	p.E398G	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	1395	-			394			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.1193A>G	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554142	0.45487	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.49720	0.77	3.73	3.73	0.42828	.	0.000000	0.42682	D	0.000676	T	0.35068	0.0919	N	0.08118	0	0.27634	N	0.947925	D	0.54964	0.969	P	0.53185	0.72	T	0.12889	-1.0530	10	0.22706	T	0.39	-19.078	10.3553	0.43960	0.0:0.0:0.0:1.0	.	394	E2QRB5	.	G	398;394	ENSP00000337998:E398G	ENSP00000337998:E398G	E	-	2	0	NCKAP5L	48476717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.502000	0.35704	1.709000	0.51313	0.459000	0.35465	GAG		PASS	0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		25	19	25	19	---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53038879	53038879	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:53038879C>A	ENST00000309680.3	-	9	1865	c.1844G>T	c.(1843-1845)gGa>gTa	p.G615V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	615	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G615V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCCCCACCTCCAGAGCCATA	0.552																																						uc001sat.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1843-1845)GGA>GTA		keratin 2							83.0	87.0	86.0					12																	53038879		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53038879C>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1844G>T	12.37:g.53038879C>A	ENSP00000310861:p.Gly615Val						p.G615V	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	9	1877	-			615			Tail.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1844G>T	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	8.686	0.906237	0.17760	.	.	ENSG00000172867	ENST00000309680	D	0.89617	-2.54	4.08	4.08	0.47627	.	.	.	.	.	D	0.86883	0.6040	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85504	0.1193	9	0.26408	T	0.33	.	13.3738	0.60726	0.0:1.0:0.0:0.0	.	615	P35908	K22E_HUMAN	V	615	ENSP00000310861:G615V	ENSP00000310861:G615V	G	-	2	0	KRT2	51325146	1.000000	0.71417	0.994000	0.49952	0.323000	0.28346	3.582000	0.53921	2.010000	0.58986	0.561000	0.74099	GGA		PASS	0.552	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		4	152	4	152	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53071127	53071127	+	Silent	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:53071127A>G	ENST00000252244.3	-	5	1159	c.1101T>C	c.(1099-1101)gcT>gcC	p.A367A		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	367	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.A367A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ACTCGGCCTCAGCTTTGCTCT	0.507																																						uc001sau.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1099-1101)GCT>GCC		keratin 1							120.0	111.0	114.0					12																	53071127		2203	4300	6503	SO:0001819	synonymous_variant	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53071127A>G	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1101T>C	12.37:g.53071127A>G						KRT1_uc001sav.1_Silent_p.A367A	p.A367A	NM_006121	NP_006112	P04264	K2C1_HUMAN			5	1160	-			367			Rod.|Coil 2.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	c.1101T>C	CCDS8836.1																																																																																				PASS	0.507	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		10	89	10	89	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56079052	56079052	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:56079052C>T	ENST00000555728.1	-	26	3364	c.3336G>A	c.(3334-3336)gcG>gcA	p.A1112A	ITGA7_ENST00000394229.2_Missense_Mutation_p.R1106Q|ITGA7_ENST00000452168.2_Silent_p.A975A|ITGA7_ENST00000257880.7_Missense_Mutation_p.R1150Q|ITGA7_ENST00000257879.6_Silent_p.A1068A|ITGA7_ENST00000553804.1_Silent_p.A1072A|ITGA7_ENST00000394230.2_Missense_Mutation_p.R1110Q|ITGA7_ENST00000347027.6_Silent_p.A1062A			Q13683	ITA7_HUMAN	integrin, alpha 7	1112					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.A1072A(1)|p.A1068A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGGGGTGCTTCGCCCGTTTGA	0.607																																						uc001shh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(3214-3216)GCG>GCA		integrin alpha 7 isoform 1 precursor							72.0	64.0	67.0					12																	56079052		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56079052C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3336G>A	12.37:g.56079052C>T						ITGA7_uc001shg.2_Silent_p.A1068A|ITGA7_uc010sps.1_Silent_p.A975A|ITGA7_uc001shf.2_Missense_Mutation_p.R84Q|ITGA7_uc009znw.2_Silent_p.A315A|ITGA7_uc009znx.2_Silent_p.A949A	p.A1072A	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			25	3436	-			1112			Cytoplasmic (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.3216G>A		.	.	.	.	.	.	.	.	.	.	C	13.68	2.308069	0.40895	.	.	ENSG00000135424	ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000557555	T;T;T	0.72282	-0.64;-0.64;-0.64	5.12	-3.53	0.04667	.	.	.	.	.	T	0.45597	0.1350	.	.	.	0.19945	N	0.999946	.	.	.	.	.	.	T	0.31223	-0.9951	6	0.19147	T	0.46	.	2.5987	0.04861	0.1394:0.2221:0.1235:0.5151	.	.	.	.	Q	1150;1110;1106;979;136	ENSP00000257880:R1150Q;ENSP00000377777:R1110Q;ENSP00000377776:R1106Q	ENSP00000257880:R1150Q	R	-	2	0	ITGA7	54365319	0.000000	0.05858	0.963000	0.40424	0.985000	0.73830	-4.844000	0.00179	-0.700000	0.05070	-0.228000	0.12330	CGA		PASS	0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		10	85	10	85	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400498	78400498	+	Silent	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:78400498C>A	ENST00000397909.2	+	8	1353	c.1180C>A	c.(1180-1182)Cgg>Agg	p.R394R	NAV3_ENST00000536525.2_Silent_p.R394R|NAV3_ENST00000228327.6_Silent_p.R394R|NAV3_ENST00000266692.7_Silent_p.R394R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	394						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R394R(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						AGTCAATGCCCGGACTGCTTT	0.498										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1180-1182)CGG>AGG		neuron navigator 3							80.0	83.0	82.0					12																	78400498		1980	4149	6129	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400498C>A	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.1180C>A	12.37:g.78400498C>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.R394R	p.R394R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1353	+			394					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1180C>A		.	.	.	.	.	.	.	.	.	.	C	7.257	0.604367	0.14002	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.74	3.83	0.44106	.	.	.	.	.	T	0.69396	0.3106	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69327	-0.5174	4	.	.	.	-13.8773	14.1068	0.65096	0.4989:0.5011:0.0:0.0	.	.	.	.	Q	217	.	.	P	+	2	0	NAV3	76924629	0.262000	0.24073	0.998000	0.56505	0.888000	0.51559	1.911000	0.39937	1.401000	0.46761	0.655000	0.94253	CCG		PASS	0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		45	40	45	40	---	---	---	---
METTL25	84190	broad.mit.edu	37	12	82780745	82780745	+	Splice_Site	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:82780745T>C	ENST00000248306.3	+	2	492	c.423T>C	c.(421-423)atT>atC	p.I141I	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	141							methyltransferase activity (GO:0008168)	p.I141I(1)									ACCAGAGAATTGGTATGTCTA	0.333																																						uc001szq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(421-423)ATT>ATC		hypothetical protein LOC84190							108.0	109.0	109.0					12																	82780745		2203	4300	6503	SO:0001630	splice_region_variant	84190							g.chr12:82780745T>C	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.424+1T>C	12.37:g.82780745T>C							p.I141I	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			2	444	+			141					Q9H5Y3	Silent	SNP	ENST00000248306.3	37	c.423T>C	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	T	5.689	0.311762	0.10789	.	.	ENSG00000127720	ENST00000550058	.	.	.	5.84	3.49	0.39957	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52056	-0.8626	4	.	.	.	-0.0678	8.6243	0.33879	0.0:0.1527:0.0:0.8473	.	.	.	.	S	100	.	.	L	+	2	0	C12orf26	81304876	0.099000	0.21834	0.926000	0.36857	0.013000	0.08279	0.115000	0.15540	0.570000	0.29347	-0.262000	0.10625	TTG		PASS	0.333	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230	Silent	4	178	4	178	---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100706354	100706354	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:100706354G>C	ENST00000360820.2	+	6	1212	c.775G>C	c.(775-777)Gta>Cta	p.V259L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.V259L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TATGTATGCTGTATTTAATAA	0.348																																						uc001thn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(775-777)GTA>CTA		SCY1-like 2 protein							73.0	72.0	73.0					12																	100706354		2203	4298	6501	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100706354G>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.775G>C	12.37:g.100706354G>C	ENSP00000354061:p.Val259Leu					SCYL2_uc009ztw.1_Missense_Mutation_p.V86L|SCYL2_uc001thm.1_Missense_Mutation_p.V259L	p.V259L	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			6	825	+			259			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.775G>C	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465408	0.63513	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.67865	-0.29;-0.29	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	N	0.05510	-0.035	0.80722	D	1	B	0.10296	0.003	B	0.20184	0.028	T	0.49688	-0.8913	10	0.02654	T	1	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	259	Q6P3W7	SCYL2_HUMAN	L	259;86;259	ENSP00000448366:V259L;ENSP00000354061:V259L	ENSP00000258506:V86L	V	+	1	0	SCYL2	99230485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.550000	0.73905	2.836000	0.97738	0.655000	0.94253	GTA		PASS	0.348	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		48	43	48	43	---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123276650	123276650	+	Missense_Mutation	SNP	G	G	A	rs375333901		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:123276650G>A	ENST00000253079.6	+	6	1098	c.754G>A	c.(754-756)Gat>Aat	p.D252N	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.D252N|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	252					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.D252N(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTGCCTGCACGATGAATTGCT	0.393																																						uc001udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(754-756)GAT>AAT		coiled-coil domain containing 62 isoform b		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	103.0	99.0	100.0		754	5.1	0.9	12		100	0,8600		0,0,4300	no	missense	CCDC62	NM_201435.4	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	252/685	123276650	1,13005	2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123276650G>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.754G>A	12.37:g.123276650G>A	ENSP00000253079:p.Asp252Asn					CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.D252N|CCDC62_uc001ude.2_Intron	p.D252N	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	6	899	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		252			Potential.		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.754G>A	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130295	0.77549	2.27E-4	0.0	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.32988	1.43;1.43	5.11	5.11	0.69529	.	0.220251	0.33792	N	0.004556	T	0.51278	0.1665	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.975;0.998	T	0.41574	-0.9501	10	0.34782	T	0.22	-23.1263	14.4063	0.67083	0.0:0.0:1.0:0.0	.	252;252	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	N	252	ENSP00000253079:D252N;ENSP00000376236:D252N	ENSP00000253079:D252N	D	+	1	0	CCDC62	121842603	0.998000	0.40836	0.850000	0.33497	0.971000	0.66376	3.653000	0.54446	2.529000	0.85273	0.585000	0.79938	GAT		PASS	0.393	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		5	92	5	92	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129566322	129566322	+	Silent	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:129566322A>T	ENST00000422113.2	-	7	2231	c.1905T>A	c.(1903-1905)ctT>ctA	p.L635L	TMEM132D_ENST00000389441.4_Silent_p.L173L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	635					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.L635L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGTCATCCCAAGCTCCTGCC	0.498																																						uc009zyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1903-1905)CTT>CTA		transmembrane protein 132D precursor							44.0	42.0	43.0					12																	129566322		2203	4299	6502	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129566322A>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1905T>A	12.37:g.129566322A>T						TMEM132D_uc001uia.2_Silent_p.L173L	p.L635L	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2233	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	635			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1905T>A	CCDS9266.1																																																																																				PASS	0.498	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		8	50	8	50	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130827214	130827214	+	Splice_Site	SNP	C	C	T	rs201104805		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:130827214C>T	ENST00000245255.3	+	2	350	c.78C>T	c.(76-78)gcC>gcT	p.A26A		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	26					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.A26A(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCTCCACTGCCGTGAGTGCTT	0.512																																						uc001uik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(76-78)GCC>GCT		piwi-like 1		C	,	0,4406		0,0,2203	31.0	41.0	38.0		78,78	-10.4	0.0	12		38	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	PIWIL1	NM_001190971.1,NM_004764.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	26/830,26/862	130827214	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130827214C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.78+1C>T	12.37:g.130827214C>T						PIWIL1_uc001uij.1_Silent_p.A26A	p.A26A	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	2	168	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		26					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.78C>T	CCDS9268.1																																																																																				PASS	0.512	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		Silent	16	15	16	15	---	---	---	---
NOC4L	79050	broad.mit.edu	37	12	132635872	132635872	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr12:132635872C>T	ENST00000330579.1	+	11	1073	c.1032C>T	c.(1030-1032)cgC>cgT	p.R344R	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	344					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R344R(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TCAAGTACCGCGCCCGCTTCT	0.657																																						uc001ujz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1030-1032)CGC>CGT		nucleolar complex associated 4 homolog							116.0	121.0	119.0					12																	132635872		2201	4299	6500	SO:0001819	synonymous_variant	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132635872C>T		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1032C>T	12.37:g.132635872C>T							p.R344R	NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	11	1073	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		344					Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	c.1032C>T	CCDS9277.1																																																																																				PASS	0.657	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		6	167	6	167	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20012295	20012295	+	Splice_Site	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr13:20012295T>C	ENST00000400230.2	-	14	1018		c.e14-2		TPTE2_ENST00000255310.6_Splice_Site|TPTE2_ENST00000382977.4_Splice_Site|TPTE2_ENST00000390680.2_Splice_Site|TPTE2_ENST00000382978.1_Splice_Site|TPTE2_ENST00000457266.2_Splice_Site|TPTE2_ENST00000400103.2_Splice_Site|TPTE2_ENST00000382975.4_Splice_Site			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.?(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGGTTCttcctagaaaagaaa	0.333																																						uc001umd.2																			2	Unknown(2)		lung(2)		0						c.e15-1		TPTE and PTEN homologous inositol lipid							50.0	49.0	49.0					13																	20012295		2202	4300	6502	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20012295T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.974-2A>G	13.37:g.20012295T>C						TPTE2_uc009zzk.2_Splice_Site|TPTE2_uc009zzl.2_Splice_Site_p.G214_splice|TPTE2_uc001ume.2_Splice_Site_p.G248_splice|TPTE2_uc009zzm.2_Splice_Site|TPTE2_uc010tcm.1_Splice_Site|TPTE2_uc010tcl.1_5'UTR	p.G325_splice	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	15	1185	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)						A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.974_splice	CCDS45014.1																																																																																				PASS	0.333	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Intron	30	21	30	21	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20412970	20412970	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr13:20412970T>C	ENST00000337963.4	-	5	1006	c.742A>G	c.(742-744)Aaa>Gaa	p.K248E	ZMYM5_ENST00000382905.4_Missense_Mutation_p.K248E|ZMYM5_ENST00000382907.4_Intron|RP11-61K9.2_ENST00000422148.2_RNA	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	248						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K248E(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AAAGGCTTTTTGCAATTTGCA	0.428																																						uc010tcn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(742-744)AAA>GAA		zinc finger protein 237 isoform 3							249.0	236.0	240.0					13																	20412970		2203	4300	6503	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20412970T>C	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.742A>G	13.37:g.20412970T>C	ENSP00000337034:p.Lys248Glu					ZMYM5_uc001umm.1_Missense_Mutation_p.K72E|ZMYM5_uc001umn.2_Missense_Mutation_p.K248E|ZMYM5_uc001umo.2_Intron	p.K248E	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	5	1007	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	248					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.742A>G		.	.	.	.	.	.	.	.	.	.	T	14.58	2.578942	0.46006	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.48522	0.81;0.81;0.81	4.67	3.47	0.39725	TRASH (1);Zinc finger, MYM-type (1);	0.148405	0.64402	D	0.000014	T	0.63988	0.2558	M	0.66939	2.045	0.53005	D	0.999969	D;D	0.67145	0.996;0.971	D;P	0.74674	0.984;0.719	T	0.66650	-0.5870	10	0.87932	D	0	-7.007	11.8354	0.52321	0.0:0.0:0.1467:0.8533	.	248;248	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	E	248;238;248	ENSP00000337034:K248E;ENSP00000445779:K238E;ENSP00000372361:K248E	ENSP00000337034:K248E	K	-	1	0	ZMYM5	19310970	1.000000	0.71417	0.977000	0.42913	0.450000	0.32258	7.466000	0.80914	0.904000	0.36572	-0.501000	0.04562	AAA		PASS	0.428	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		43	266	43	266	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25263440	25263440	+	Missense_Mutation	SNP	C	C	T	rs201403471		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr13:25263440C>T	ENST00000381946.3	+	5	640	c.473C>T	c.(472-474)aCg>aTg	p.T158M	ATP12A_ENST00000218548.6_Missense_Mutation_p.T158M			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	158					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.T158M(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GTCATTTTAACGGGGATCTTT	0.537																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(472-474)ACG>ATG		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						223.0	211.0	215.0					13																	25263440		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25263440C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.473C>T	13.37:g.25263440C>T	ENSP00000371372:p.Thr158Met					ATP12A_uc010aaa.2_Missense_Mutation_p.T158M	p.T158M	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	5	660	+		Lung SC(185;0.0225)|Breast(139;0.077)	158			Helical; (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.473C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818515	0.71028	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89415	-2.51;-2.51	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95023	0.8389	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.97110	0.843;1.0	D	0.95519	0.8593	10	0.87932	D	0	.	16.1375	0.81497	0.0:1.0:0.0:0.0	.	158;158	P54707-2;P54707	.;AT12A_HUMAN	M	158	ENSP00000218548:T158M;ENSP00000371372:T158M	ENSP00000218548:T158M	T	+	2	0	ATP12A	24161440	1.000000	0.71417	0.078000	0.20375	0.607000	0.37147	7.107000	0.77047	2.680000	0.91292	0.561000	0.74099	ACG		PASS	0.537	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		13	109	13	109	---	---	---	---
OR11H4	390442	broad.mit.edu	37	14	20711878	20711878	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr14:20711878G>T	ENST00000315409.2	+	1	981	c.928G>T	c.(928-930)Gct>Tct	p.A310S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A310S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CATGAAACTCGCTCTGAGAAA	0.393																																						uc010tld.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(928-930)GCT>TCT		olfactory receptor, family 11, subfamily H,							79.0	81.0	80.0					14																	20711878		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711878G>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.928G>T	14.37:g.20711878G>T	ENSP00000318997:p.Ala310Ser						p.A310S	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	928	+	all_cancers(95;0.000888)		310			Cytoplasmic (Potential).		B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.928G>T	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128253	0.37533	.	.	ENSG00000176198	ENST00000315409	T	0.44482	0.92	4.7	2.86	0.33363	.	0.000000	0.52532	D	0.000078	T	0.49098	0.1537	L	0.41236	1.265	0.09310	N	1	D	0.63046	0.992	D	0.69307	0.963	T	0.29761	-1.0001	10	0.66056	D	0.02	-11.3064	7.649	0.28337	0.0884:0.0:0.7489:0.1627	.	310	Q8NGC9	O11H4_HUMAN	S	310	ENSP00000318997:A310S	ENSP00000318997:A310S	A	+	1	0	OR11H4	19781718	0.585000	0.26774	0.996000	0.52242	0.715000	0.41141	3.096000	0.50243	0.594000	0.29761	-0.119000	0.15052	GCT		PASS	0.393	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			21	142	21	142	---	---	---	---
DHRS4L1	728635	broad.mit.edu	37	14	24505724	24505724	+	RNA	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr14:24505724G>A	ENST00000558293.1	+	0	63					NR_102693.1																						ACAAGGCGCGGCTACGAGGCC	0.662																																						uc010alc.2																			0					0						c.(13-15)CGG>CGA		dehydrogenase/reductase (SDR family) member 4							44.0	44.0	44.0					14																	24505724		2203	4300	6503			728635						binding|oxidoreductase activity	g.chr14:24505724G>A																													14.37:g.24505724G>A						DHRS4L1_uc010tnu.1_RNA	p.R5R	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN			1	15	+			5						Silent	SNP	ENST00000558293.1	37	c.15G>A																																																																																					PASS	0.662	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			15	14	15	14	---	---	---	---
HSPA2	3306	broad.mit.edu	37	14	65008628	65008628	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr14:65008628A>T	ENST00000394709.1	+	2	1137	c.1061A>T	c.(1060-1062)cAg>cTg	p.Q354L	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.Q354L			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	354					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)	p.Q354L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AAGCTGCTGCAGGATTTCTTC	0.627																																					Pancreas(136;1211 1835 24894 31984 38227)	uc001xhj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1060-1062)CAG>CTG		heat shock 70kDa protein 2							42.0	47.0	45.0					14																	65008628		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008628A>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1061A>T	14.37:g.65008628A>T	ENSP00000378199:p.Gln354Leu					HSPA2_uc001xhk.3_Missense_Mutation_p.Q354L	p.Q354L	NM_021979	NP_068814	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	2	1137	+			354					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.1061A>T	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707156	0.68615	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01034	5.42;5.42	5.11	5.11	0.69529	.	0.000000	0.51477	U	0.000081	T	0.05318	0.0141	H	0.94886	3.595	0.50632	D	0.999885	P	0.50443	0.935	P	0.49252	0.604	T	0.02352	-1.1172	10	0.87932	D	0	-0.1334	14.9611	0.71158	1.0:0.0:0.0:0.0	.	354	P54652	HSP72_HUMAN	L	354;354;128	ENSP00000378199:Q354L;ENSP00000247207:Q354L	ENSP00000247207:Q354L	Q	+	2	0	HSPA2	64078381	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.336000	0.96533	1.939000	0.56221	0.456000	0.33151	CAG		PASS	0.627	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			32	38	32	38	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74975970	74975970	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr14:74975970C>T	ENST00000261978.4	-	22	3760	c.3374G>A	c.(3373-3375)cGg>cAg	p.R1125Q	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1125Q	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1125	Cys-rich.|EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R1125Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGGCTGGGCCGGTAGCCCCC	0.627																																						uc001xqa.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(3373-3375)CGG>CAG		latent transforming growth factor beta binding							54.0	66.0	62.0					14																	74975970		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74975970C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3374G>A	14.37:g.74975970C>T	ENSP00000261978:p.Arg1125Gln						p.R1125Q	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	22	3761	-			1125			EGF-like 10; calcium-binding (Potential).|Cys-rich.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3374G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670012	0.29693	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.87179	-2.22;-2.22	5.01	-3.84	0.04256	EGF-like calcium-binding (2);	0.886527	0.09349	N	0.814423	T	0.62744	0.2453	N	0.02111	-0.68	0.22541	N	0.999007	B	0.10296	0.003	B	0.06405	0.002	T	0.55244	-0.8171	10	0.10377	T	0.69	.	8.4536	0.32886	0.1252:0.2113:0.0:0.6635	.	1125	Q14767	LTBP2_HUMAN	Q	1125	ENSP00000261978:R1125Q;ENSP00000451477:R1125Q	ENSP00000261978:R1125Q	R	-	2	0	LTBP2	74045723	0.000000	0.05858	0.828000	0.32881	0.779000	0.44077	-2.867000	0.00722	-0.670000	0.05282	0.491000	0.48974	CGG		PASS	0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		21	107	21	107	---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76186151	76186151	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr14:76186151G>C	ENST00000298832.9	+	11	1121	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Missense_Mutation_p.E306Q	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	306	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.E306Q(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCTGAAACAAGAAGGCAGAGA	0.393																																						uc001xrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(916-918)GAA>CAA		tubulin tyrosine ligase-like family, member 5							180.0	157.0	165.0					14																	76186151		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76186151G>C	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.916G>C	14.37:g.76186151G>C	ENSP00000298832:p.Glu306Gln					TTLL5_uc010ask.1_Missense_Mutation_p.E306Q|TTLL5_uc001xry.1_Intron	p.E306Q	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	11	1121	+			306			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.916G>C	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130536	0.56828	.	.	ENSG00000119685	ENST00000557636;ENST00000298832	T;T	0.03272	3.99;4.07	5.69	5.69	0.88448	.	0.092020	0.64402	D	0.000001	T	0.04497	0.0123	N	0.10707	0.03	0.80722	D	1	B;B	0.28470	0.178;0.213	B;B	0.40982	0.234;0.345	T	0.62039	-0.6938	10	0.20046	T	0.44	.	19.776	0.96393	0.0:0.0:1.0:0.0	.	306;306	G3V2J9;Q6EMB2	.;TTLL5_HUMAN	Q	306	ENSP00000450713:E306Q;ENSP00000298832:E306Q	ENSP00000298832:E306Q	E	+	1	0	TTLL5	75255904	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.683000	0.84093	2.840000	0.97914	0.655000	0.94253	GAA		PASS	0.393	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		47	36	47	36	---	---	---	---
TMED8	283578	broad.mit.edu	37	14	77808245	77808245	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr14:77808245C>A	ENST00000216468.7	-	6	902	c.847G>T	c.(847-849)Gac>Tac	p.D283Y		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	283	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.D283Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CGGTGGCTGTCCCGCCGGTAC	0.607																																						uc001xto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)GAC>TAC		transmembrane emp24 protein transport domain							80.0	66.0	70.0					14																	77808245		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77808245C>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.847G>T	14.37:g.77808245C>A	ENSP00000216468:p.Asp283Tyr					TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Missense_Mutation_p.D127Y	p.D283Y	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	6	847	-			283			GOLD.		B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.847G>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238818	0.95240	.	.	ENSG00000100580	ENST00000216468	T	0.40476	1.03	6.08	6.08	0.98989	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70949	-0.4733	10	0.87932	D	0	1.3495	20.2598	0.98436	0.0:1.0:0.0:0.0	.	283	Q6PL24	TMED8_HUMAN	Y	283	ENSP00000216468:D283Y	ENSP00000216468:D283Y	D	-	1	0	TMED8	76877998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.582000	0.60957	2.890000	0.99128	0.655000	0.94253	GAC		PASS	0.607	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		14	11	14	11	---	---	---	---
ZNF839	55778	broad.mit.edu	37	14	102792675	102792675	+	Silent	SNP	G	G	A	rs371006557		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr14:102792675G>A	ENST00000558850.1	+	2	644	c.294G>A	c.(292-294)ccG>ccA	p.P98P	ZNF839_ENST00000559185.1_Silent_p.P98P|ZNF839_ENST00000262236.5_Silent_p.P98P|ZNF839_ENST00000442396.2_Silent_p.P214P	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	98							metal ion binding (GO:0046872)	p.P214P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTCTGACCCGCTGGCAGTAA	0.483																																						uc001ylo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(292-294)CCG>CCA		zinc finger protein 839		A		0,3802		0,0,1901	27.0	26.0	26.0		642	-10.4	0.0	14		26	1,8239		0,1,4119	no	coding-synonymous	ZNF839	NM_018335.3		0,1,6020	AA,AG,GG		0.0121,0.0,0.0083		214/928	102792675	1,12041	1901	4120	6021	SO:0001819	synonymous_variant	55778					intracellular	zinc ion binding	g.chr14:102792675G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.294G>A	14.37:g.102792675G>A						ZNF839_uc010awk.1_Silent_p.P214P|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Silent_p.P98P|ZNF839_uc001ylr.2_Silent_p.P98P	p.P98P	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN			2	644	+			98					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	c.294G>A	CCDS58336.1																																																																																				PASS	0.483	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		10	9	10	9	---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105209529	105209529	+	Splice_Site	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr14:105209529G>T	ENST00000330877.2	+	10	1158		c.e10+1		ADSSL1_ENST00000555674.1_5'Flank|ADSSL1_ENST00000556623.1_5'Flank|ADSSL1_ENST00000332972.5_Splice_Site	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1									p.?(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GATTCACTGCGTAAGCAACCC	0.612																																						uc001ypd.2																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e10+1		adenylosuccinate synthase like 1 isoform 2	L-Aspartic Acid(DB00128)						97.0	91.0	93.0					14																	105209529		2203	4300	6503	SO:0001630	splice_region_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105209529G>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.1073+1G>T	14.37:g.105209529G>T						INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Splice_Site_p.A401_splice|ADSSL1_uc001ypf.2_Splice_Site	p.A358_splice	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	10	1147	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)							Splice_Site	SNP	ENST00000330877.2	37	c.1073_splice	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354141	0.41700	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3269	0.87251	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADSSL1	104280574	1.000000	0.71417	0.970000	0.41538	0.274000	0.26718	9.273000	0.95719	2.069000	0.61940	0.561000	0.74099	.		PASS	0.612	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1		Intron	68	55	68	55	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369420	22369420	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:22369420C>A	ENST00000332663.2	+	1	943	c.845C>A	c.(844-846)cCt>cAt	p.P282H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, 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.P282H(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTAATATTCCCTTTACGTAAT	0.383																																						uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(844-846)CCT>CAT		olfactory receptor, family 4, subfamily M,							179.0	139.0	153.0					15																	22369420		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369420C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.845C>A	15.37:g.22369420C>A	ENSP00000329467:p.Pro282His					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.P282H	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	845	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	282			Helical; Name=7; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.845C>A	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	14.03	2.414303	0.42817	.	.	ENSG00000182974	ENST00000332663	T	0.00349	7.99	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000149	T	0.01489	0.0048	H	0.99130	4.44	0.37216	D	0.905027	D	0.89917	1.0	D	0.97110	1.0	T	0.12451	-1.0547	10	0.87932	D	0	-12.8675	10.3191	0.43756	0.0:1.0:0.0:0.0	.	282	Q8NGB6	OR4M2_HUMAN	H	282	ENSP00000329467:P282H	ENSP00000329467:P282H	P	+	2	0	OR4M2	19870784	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.975000	0.76128	1.297000	0.44761	0.448000	0.29417	CCT		PASS	0.383	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			43	98	43	98	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28483881	28483881	+	Silent	SNP	C	C	T	rs202178731		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:28483881C>T	ENST00000261609.7	-	24	3723	c.3615G>A	c.(3613-3615)gaG>gaA	p.E1205E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.E1205E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGTCACTTCCTCATTATTTC	0.368																																						uc001zbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(3613-3615)GAG>GAA		hect domain and RLD 2							71.0	64.0	67.0					15																	28483881		2203	4297	6500	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28483881C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3615G>A	15.37:g.28483881C>T							p.E1205E	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	24	3721	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1205						Silent	SNP	ENST00000261609.7	37	c.3615G>A	CCDS10021.1																																																																																				PASS	0.368	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	116	4	116	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33938728	33938728	+	Splice_Site	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:33938728G>A	ENST00000389232.4	+	29	4011		c.e29+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.?(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGAAAAGGTGAGGGTGAG	0.517																																						uc001zhi.2																			1	Unknown(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.e29+1		ryanodine receptor 3							94.0	98.0	96.0					15																	33938728		2048	4198	6246	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33938728G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3941+1G>A	15.37:g.33938728G>A						RYR3_uc010bar.2_Splice_Site_p.R1314_splice	p.R1314_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	29	4011	+		all_lung(180;7.18e-09)						O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.3941_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525905	0.85600	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0029	0.92841	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31726020	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.731000	0.74785	2.727000	0.93392	0.591000	0.81541	.		PASS	0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	35	117	35	117	---	---	---	---
NUTM1	256646	broad.mit.edu	37	15	34640787	34640787	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:34640787G>C	ENST00000333756.4	+	2	789	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	NUTM1_ENST00000438749.3_Missense_Mutation_p.E230Q|NUTM1_ENST00000537011.1_Missense_Mutation_p.E240Q	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	212						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E212Q(1)									GGACGTTTATGAGAACTTCCG	0.542																																						uc001zif.2										T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	1	Substitution - Missense(1)		lung(1)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(634-636)GAG>CAG		nuclear protein in testis							60.0	62.0	61.0					15																	34640787		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34640787G>C	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.634G>C	15.37:g.34640787G>C	ENSP00000329448:p.Glu212Gln					C15orf55_uc010ucc.1_Missense_Mutation_p.E240Q|C15orf55_uc010ucd.1_Missense_Mutation_p.E230Q	p.E212Q	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	789	+		all_lung(180;2.78e-08)	212					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.634G>C	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929500	0.73327	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.28255	1.62;1.62;1.62	5.69	5.69	0.88448	Nuclear Testis  protein, N-terminal (1);	0.000000	0.64402	D	0.000005	T	0.55768	0.1941	M	0.72118	2.19	0.39474	D	0.967771	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.55186	-0.8180	10	0.45353	T	0.12	.	16.7419	0.85461	0.0:0.0:1.0:0.0	.	230;240;212	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	Q	240;230;212;212	ENSP00000444896:E240Q;ENSP00000407031:E230Q;ENSP00000329448:E212Q	ENSP00000329448:E212Q	E	+	1	0	C15orf55	32428079	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.442000	0.66575	2.692000	0.91855	0.655000	0.94253	GAG		PASS	0.542	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		61	75	61	75	---	---	---	---
ITPKA	3706	broad.mit.edu	37	15	41793728	41793728	+	Missense_Mutation	SNP	A	A	T	rs143540732		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:41793728A>T	ENST00000260386.5	+	2	610	c.557A>T	c.(556-558)tAc>tTc	p.Y186F		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	186					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.Y186F(1)		kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAGAAGCGCTACGCCTGGGTG	0.637																																						uc001znz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)TAC>TTC		1D-myo-inositol-trisphosphate 3-kinase A							29.0	25.0	26.0					15																	41793728		2202	4300	6502	SO:0001583	missense	3706				signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr15:41793728A>T	X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.557A>T	15.37:g.41793728A>T	ENSP00000260386:p.Tyr186Phe						p.Y186F	NM_002220	NP_002211	P23677	IP3KA_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	2	568	+		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	186					Q8TAN3	Missense_Mutation	SNP	ENST00000260386.5	37	c.557A>T	CCDS10076.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.938067	0.92526	.	.	ENSG00000137825	ENST00000425927;ENST00000260386	T	0.50001	0.76	4.71	4.71	0.59529	.	0.226565	0.38837	N	0.001556	T	0.64238	0.2580	M	0.70595	2.14	0.48040	D	0.999572	D	0.76494	0.999	D	0.64321	0.924	T	0.68390	-0.5421	10	0.66056	D	0.02	-10.9047	12.9023	0.58133	1.0:0.0:0.0:0.0	.	186	P23677	IP3KA_HUMAN	F	81;186	ENSP00000260386:Y186F	ENSP00000260386:Y186F	Y	+	2	0	ITPKA	39581020	0.997000	0.39634	0.996000	0.52242	0.995000	0.86356	3.558000	0.53749	1.972000	0.57404	0.379000	0.24179	TAC		PASS	0.637	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252695.3	NM_002220		5	27	5	27	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50154566	50154566	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:50154566G>A	ENST00000284509.6	-	27	3314	c.3173C>T	c.(3172-3174)gCa>gTa	p.A1058V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A1058V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1058						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1058V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGAATGTCGTGCATTACCTAT	0.358																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(3172-3174)GCA>GTA		ATPase class I type 8B member 4							81.0	75.0	77.0					15																	50154566		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50154566G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3173C>T	15.37:g.50154566G>A	ENSP00000284509:p.Ala1058Val					ATP8B4_uc010ber.2_Missense_Mutation_p.A931V|ATP8B4_uc010ufd.1_Missense_Mutation_p.A868V|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.A61V	p.A1058V	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	27	3315	-		all_lung(180;0.00183)	1058			Extracellular (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.3173C>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388939	0.25118	.	.	ENSG00000104043	ENST00000284509	T	0.43294	0.95	5.36	4.44	0.53790	.	0.127399	0.50627	N	0.000115	T	0.37785	0.1016	L	0.55103	1.725	0.46586	D	0.999119	B;B	0.17038	0.02;0.004	B;B	0.26693	0.072;0.021	T	0.14144	-1.0483	10	0.14252	T	0.57	.	12.1351	0.53966	0.0848:0.0:0.9152:0.0	.	136;1058	Q6PG43;Q8TF62	.;AT8B4_HUMAN	V	1058	ENSP00000284509:A1058V	ENSP00000284509:A1058V	A	-	2	0	ATP8B4	47941858	0.928000	0.31464	0.997000	0.53966	0.106000	0.19336	3.367000	0.52350	1.234000	0.43709	0.563000	0.77884	GCA		PASS	0.358	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		31	94	31	94	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50158629	50158629	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:50158629C>A	ENST00000284509.6	-	26	3221	c.3080G>T	c.(3079-3081)gGg>gTg	p.G1027V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G1027V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1027						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G1027V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGCAATGCTCCCCCAGATGAA	0.383																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(3079-3081)GGG>GTG		ATPase class I type 8B member 4							99.0	94.0	95.0					15																	50158629		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50158629C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3080G>T	15.37:g.50158629C>A	ENSP00000284509:p.Gly1027Val					ATP8B4_uc010ber.2_Missense_Mutation_p.G900V|ATP8B4_uc010ufd.1_Missense_Mutation_p.G837V|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.G30V	p.G1027V	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	26	3222	-		all_lung(180;0.00183)	1027			Helical; (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.3080G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417882	0.62622	.	.	ENSG00000104043	ENST00000284509	T	0.75260	-0.92	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.87977	0.6314	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.95	D	0.89669	0.3882	10	0.59425	D	0.04	.	16.4737	0.84125	0.0:1.0:0.0:0.0	.	105;1027	Q6PG43;Q8TF62	.;AT8B4_HUMAN	V	1027	ENSP00000284509:G1027V	ENSP00000284509:G1027V	G	-	2	0	ATP8B4	47945921	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.725000	0.84808	2.541000	0.85698	0.591000	0.81541	GGG		PASS	0.383	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		37	61	37	61	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70968849	70968849	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:70968849T>C	ENST00000322954.6	-	13	1299	c.1114A>G	c.(1114-1116)Aga>Gga	p.R372G	UACA_ENST00000379983.2_Missense_Mutation_p.R359G|UACA_ENST00000539319.1_Missense_Mutation_p.R263G|UACA_ENST00000560441.1_Missense_Mutation_p.R359G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	372					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.R372G(1)|p.R359G(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TATTTAAATCTATTTTTCAGA	0.318																																						uc002asr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1114-1116)AGA>GGA		uveal autoantigen with coiled-coil domains and							60.0	62.0	61.0					15																	70968849		2198	4292	6490	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70968849T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1114A>G	15.37:g.70968849T>C	ENSP00000314556:p.Arg372Gly					UACA_uc010uke.1_Missense_Mutation_p.R263G|UACA_uc002asq.2_Missense_Mutation_p.R359G|UACA_uc010bin.1_Missense_Mutation_p.R347G	p.R372G	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			13	1218	-			372			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.1114A>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644831	0.47258	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.39056	1.1;1.12;1.83	5.46	4.26	0.50523	.	0.264461	0.31347	N	0.007807	T	0.45316	0.1336	L	0.54323	1.7	0.18873	N	0.999985	P;P;P;D	0.53745	0.935;0.893;0.937;0.962	P;B;P;P	0.49252	0.604;0.4;0.504;0.604	T	0.41052	-0.9530	10	0.54805	T	0.06	-25.4109	11.6089	0.51047	0.1332:0.0:0.0:0.8668	.	263;372;372;359	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	G	372;359;348;263	ENSP00000314556:R372G;ENSP00000369319:R359G;ENSP00000438667:R263G	ENSP00000314556:R372G	R	-	1	2	UACA	68755903	0.957000	0.32711	0.871000	0.34182	0.331000	0.28603	1.509000	0.35780	2.197000	0.70478	0.482000	0.46254	AGA		PASS	0.318	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			51	59	51	59	---	---	---	---
CD276	80381	broad.mit.edu	37	15	73996604	73996604	+	Missense_Mutation	SNP	G	G	A	rs150186392	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:73996604G>A	ENST00000318443.5	+	6	1462	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	CD276_ENST00000537340.2_Missense_Mutation_p.R241Q|CD276_ENST00000561213.1_Missense_Mutation_p.R387Q|CD276_ENST00000318424.5_Missense_Mutation_p.R169Q|CD276_ENST00000564751.1_Missense_Mutation_p.R169Q	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	387	Ig-like C2-type 2.			R -> Q (in Ref. 3; AAQ88709). {ECO:0000305}.	cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.R387Q(1)		endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCCAGCTACCGGGGCTACCCT	0.637													G|||	8	0.00159744	0.0023	0.0014	5008	,	,		21293	0.001		0.003	False		,,,				2504	0.0					uc002avv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1159-1161)CGG>CAG		CD276 antigen isoform a							97.0	88.0	91.0					15																	73996604		2198	4297	6495	SO:0001583	missense	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73996604G>A	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1160G>A	15.37:g.73996604G>A	ENSP00000320084:p.Arg387Gln					CD276_uc010bjd.1_Missense_Mutation_p.R241Q|CD276_uc002avu.1_Missense_Mutation_p.R387Q|CD276_uc002avw.1_Missense_Mutation_p.R169Q|CD276_uc010ulb.1_Missense_Mutation_p.R333Q|CD276_uc002avx.2_RNA	p.R387Q	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN			6	1394	+			387	R -> Q (in Ref. 3; AAQ88709).		Extracellular (Potential).|Ig-like C2-type 2.		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	c.1160G>A	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177721	0.21787	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000537340	T;T;T	0.16897	2.31;2.31;2.31	4.28	2.34	0.29019	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.430418	0.25130	N	0.032914	T	0.06280	0.0162	N	0.04724	-0.175	0.22531	N	0.999014	B;B;B;B	0.31435	0.073;0.001;0.323;0.276	B;B;B;B	0.25140	0.024;0.002;0.058;0.026	T	0.23797	-1.0178	10	0.62326	D	0.03	-14.0859	3.2429	0.06787	0.3219:0.2114:0.4667:0.0	.	333;169;387;387	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	Q	169;387;387;241	ENSP00000320058:R169Q;ENSP00000320084:R387Q;ENSP00000441087:R241Q	ENSP00000320058:R169Q	R	+	2	0	CD276	71783657	0.984000	0.35163	1.000000	0.80357	0.996000	0.88848	2.125000	0.42016	0.774000	0.33427	0.456000	0.33151	CGG		PASS	0.637	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		6	70	6	70	---	---	---	---
ST8SIA2	8128	broad.mit.edu	37	15	92981642	92981642	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr15:92981642T>G	ENST00000268164.3	+	4	587	c.350T>G	c.(349-351)cTg>cGg	p.L117R	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L96R	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	117					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.L117R(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AAGGGAACCCTGAAGCCTGGA	0.468																																						uc002bra.2																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)CTG>CGG		ST8 alpha-N-acetyl-neuraminide							153.0	166.0	162.0					15																	92981642		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981642T>G	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.350T>G	15.37:g.92981642T>G	ENSP00000268164:p.Leu117Arg					ST8SIA2_uc002brb.2_Missense_Mutation_p.L96R	p.L117R	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	505	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		117			Lumenal (Potential).		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.350T>G	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374791	0.82573	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.30981	1.51;1.51;1.51	5.41	5.41	0.78517	.	0.072816	0.56097	D	0.000023	T	0.53012	0.1770	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.73708	0.975;0.981	T	0.49418	-0.8942	10	0.25751	T	0.34	7.4157	15.4723	0.75449	0.0:0.0:0.0:1.0	.	96;117	C6G488;Q92186	.;SIA8B_HUMAN	R	117;96;74	ENSP00000268164:L117R;ENSP00000437382:L96R;ENSP00000450851:L74R	ENSP00000268164:L117R	L	+	2	0	ST8SIA2	90782646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	2.056000	0.61249	0.533000	0.62120	CTG		PASS	0.468	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		104	229	104	229	---	---	---	---
RBFOX1	54715	broad.mit.edu	37	16	7568163	7568163	+	Silent	SNP	A	A	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr16:7568163A>C	ENST00000550418.1	+	5	1030	c.42A>C	c.(40-42)gcA>gcC	p.A14A	RBFOX1_ENST00000535565.2_Silent_p.A50A|RBFOX1_ENST00000311745.5_Silent_p.A34A|RBFOX1_ENST00000553186.1_Silent_p.A14A|RBFOX1_ENST00000422070.4_Silent_p.A57A|RBFOX1_ENST00000547338.1_Silent_p.A14A|RBFOX1_ENST00000340209.4_Silent_p.A19A|RBFOX1_ENST00000547372.1_Silent_p.A57A|RBFOX1_ENST00000355637.4_Silent_p.A34A|RBFOX1_ENST00000436368.2_Silent_p.A34A|RBFOX1_ENST00000552089.1_Silent_p.A50A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	14					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A34A(2)|p.A14A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATCAGGAAGCAGCCGCTGCCC	0.582																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(40-42)GCA>GCC		ataxin 2-binding protein 1 isoform 4							142.0	149.0	146.0					16																	7568163		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568163A>C	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.42A>C	16.37:g.7568163A>C						A2BP1_uc010buf.1_Silent_p.A14A|A2BP1_uc002cyr.1_Silent_p.A14A|A2BP1_uc002cyt.2_Silent_p.A14A|A2BP1_uc010uxz.1_Silent_p.A57A|A2BP1_uc010uya.1_Silent_p.A50A|A2BP1_uc002cyv.1_Silent_p.A14A|A2BP1_uc010uyb.1_Silent_p.A14A|A2BP1_uc002cyw.2_Silent_p.A34A|A2BP1_uc002cyy.2_Silent_p.A34A|A2BP1_uc002cyx.2_Silent_p.A34A|A2BP1_uc010uyc.1_Silent_p.A34A	p.A14A	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	5	1030	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	14					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.42A>C	CCDS55983.1																																																																																				PASS	0.582	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		38	110	38	110	---	---	---	---
PYDC1	260434	broad.mit.edu	37	16	31226446	31226446	+	IGR	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr16:31226446C>G	ENST00000302964.3	-	0	813				PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Silent_p.L129L	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)		p.L129L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACGCACGCCTCAAGGTGCGGG	0.692																																						uc002ebn.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(385-387)CTC>CTG		tripartite motif-containing 72							9.0	10.0	9.0					16																	31226446		1777	3399	5176	SO:0001628	intergenic_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31226446C>G		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31226446C>G							p.L129L	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			2	616	+			129					B2R8L4|Q8NFP8	Silent	SNP	ENST00000302964.3	37	c.387C>G	CCDS10710.1																																																																																				PASS	0.692	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		6	11	6	11	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31382999	31382999	+	Missense_Mutation	SNP	G	G	A	rs146647978	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr16:31382999G>A	ENST00000268296.4	+	17	2175	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R685H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	685					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R685H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACCCTGGCCGCCTGAGTCCC	0.607																																						uc002ebu.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2053-2055)CGC>CAC		integrin alpha X precursor							66.0	64.0	65.0					16																	31382999		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382999G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2054G>A	16.37:g.31382999G>A	ENSP00000268296:p.Arg685His					ITGAX_uc002ebt.2_Missense_Mutation_p.R685H	p.R685H	NM_000887	NP_000878	P20702	ITAX_HUMAN			17	2121	+			685			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2054G>A	CCDS10711.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.7	4.035621	0.75617	.	.	ENSG00000140678	ENST00000268296	T	0.51574	0.7	5.4	4.45	0.53987	Integrin alpha-2 (1);	.	.	.	.	T	0.66386	0.2784	M	0.81802	2.56	0.39690	D	0.971037	D	0.89917	1.0	D	0.67725	0.953	T	0.72100	-0.4392	9	0.87932	D	0	.	10.3716	0.44058	0.0907:0.0:0.9093:0.0	.	685	P20702	ITAX_HUMAN	H	685	ENSP00000268296:R685H	ENSP00000268296:R685H	R	+	2	0	ITGAX	31290500	0.995000	0.38212	0.900000	0.35374	0.705000	0.40729	1.722000	0.38042	1.396000	0.46663	0.655000	0.94253	CGC		PASS	0.607	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		28	75	28	75	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31383005	31383005	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr16:31383005G>T	ENST00000268296.4	+	17	2181	c.2060G>T	c.(2059-2061)aGt>aTt	p.S687I	ITGAX_ENST00000562522.1_Missense_Mutation_p.S687I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	687					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.S687I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGCCGCCTGAGTCCCCGTGCC	0.617																																						uc002ebu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2059-2061)AGT>ATT		integrin alpha X precursor							66.0	63.0	64.0					16																	31383005		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31383005G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2060G>T	16.37:g.31383005G>T	ENSP00000268296:p.Ser687Ile					ITGAX_uc002ebt.2_Missense_Mutation_p.S687I	p.S687I	NM_000887	NP_000878	P20702	ITAX_HUMAN			17	2127	+			687			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2060G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	7.783	0.709867	0.15239	.	.	ENSG00000140678	ENST00000268296	T	0.45668	0.89	5.4	-8.93	0.00771	Integrin alpha-2 (1);	.	.	.	.	T	0.18425	0.0442	N	0.25201	0.72	0.24015	N	0.99616	B	0.26602	0.154	B	0.16289	0.015	T	0.11690	-1.0577	9	0.17832	T	0.49	.	5.6627	0.17678	0.4992:0.0:0.1901:0.3107	.	687	P20702	ITAX_HUMAN	I	687	ENSP00000268296:S687I	ENSP00000268296:S687I	S	+	2	0	ITGAX	31290506	0.051000	0.20477	0.124000	0.21820	0.581000	0.36288	-0.596000	0.05720	-1.767000	0.01300	-0.894000	0.02916	AGT		PASS	0.617	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		17	82	17	82	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31424157	31424157	+	Splice_Site	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr16:31424157A>T	ENST00000389202.2	+	15	1756		c.e15-1			NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D						activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTTCTGGCCAGCGGATTGCC	0.567																																						uc002ebv.1																			1	Unknown(1)		lung(1)	skin(1)	1						c.e15-2		integrin, alpha D precursor							60.0	61.0	60.0					16																	31424157		2197	4300	6497	SO:0001630	splice_region_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31424157A>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1708-1A>T	16.37:g.31424157A>T						ITGAD_uc010cap.1_Splice_Site_p.R571_splice	p.R570_splice	NM_005353	NP_005344	Q13349	ITAD_HUMAN			15	1757	+								Q15575|Q15576	Splice_Site	SNP	ENST00000389202.2	37	c.1708_splice	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725008	0.68959	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0352	0.53420	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAD	31331658	0.999000	0.42202	0.501000	0.27601	0.427000	0.31564	4.123000	0.57917	1.731000	0.51592	0.418000	0.28097	.		PASS	0.567	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	Intron	44	82	44	82	---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47581411	47581411	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr16:47581411G>T	ENST00000323584.5	+	7	686	c.662G>T	c.(661-663)tGg>tTg	p.W221L	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_Missense_Mutation_p.W214L|PHKB_ENST00000566044.1_Missense_Mutation_p.W214L|PHKB_ENST00000299167.8_Missense_Mutation_p.W221L	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	221					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.W221L(2)|p.W214L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTGGTGTCTGGGAAAGAGGA	0.333																																						uc002eev.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(661-663)TGG>TTG		phosphorylase kinase, beta isoform a							109.0	107.0	107.0					16																	47581411		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47581411G>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.662G>T	16.37:g.47581411G>T	ENSP00000313504:p.Trp221Leu					PHKB_uc010vgi.1_Missense_Mutation_p.W214L|PHKB_uc002eeu.3_Missense_Mutation_p.W214L	p.W221L	NM_000293	NP_000284	Q93100	KPBB_HUMAN			7	714	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	221					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.662G>T	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749953	0.96890	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.99698	-6.44;-6.44	6.07	6.07	0.98685	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.93550	3.43	0.80722	D	1	D;D;P	0.89917	1.0;0.987;0.886	D;D;B	0.87578	0.998;0.914;0.365	D	0.97426	1.0012	10	0.87932	D	0	-10.6313	20.2544	0.98414	0.0:0.0:1.0:0.0	.	214;221;214	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	L	214;214;221	ENSP00000414345:W214L;ENSP00000313504:W221L	ENSP00000299167:W214L	W	+	2	0	PHKB	46138912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.465000	0.97660	2.885000	0.99019	0.655000	0.94253	TGG		PASS	0.333	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			29	85	29	85	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53487406	53487406	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr16:53487406C>T	ENST00000262133.6	+	6	946	c.809C>T	c.(808-810)tCt>tTt	p.S270F	RBL2_ENST00000544545.1_Missense_Mutation_p.S54F|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	270					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.S270F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAACCTTCCTCTGACCCCCCT	0.378																																						uc002ehi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(808-810)TCT>TTT		retinoblastoma-like 2 (p130)							145.0	148.0	147.0					16																	53487406		2198	4299	6497	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53487406C>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.809C>T	16.37:g.53487406C>T	ENSP00000262133:p.Ser270Phe					RBL2_uc010vgv.1_Missense_Mutation_p.S196F|RBL2_uc002ehj.2_5'UTR|RBL2_uc010vgw.1_Missense_Mutation_p.S54F	p.S270F	NM_005611	NP_005602	Q08999	RBL2_HUMAN			6	927	+			270					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.809C>T	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617021	0.46736	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000544545	D;D;D	0.90732	-2.72;-2.29;-1.97	4.74	4.74	0.60224	.	0.204155	0.44688	D	0.000425	D	0.91707	0.7378	M	0.68952	2.095	0.33860	D	0.633679	P;P;P	0.51933	0.879;0.93;0.949	B;P;B	0.52159	0.35;0.691;0.44	D	0.94866	0.8026	10	0.72032	D	0.01	-12.6558	11.2658	0.49110	0.0:0.9155:0.0:0.0845	.	54;270;270	B7Z913;Q8NE70;Q08999	.;.;RBL2_HUMAN	F	270;196;54	ENSP00000262133:S270F;ENSP00000443744:S196F;ENSP00000444685:S54F	ENSP00000262133:S270F	S	+	2	0	RBL2	52044907	0.253000	0.23982	0.995000	0.50966	0.957000	0.61999	2.569000	0.45973	2.150000	0.67090	0.313000	0.20887	TCT		PASS	0.378	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		6	319	6	319	---	---	---	---
CLEC3A	10143	broad.mit.edu	37	16	78064472	78064472	+	Missense_Mutation	SNP	G	G	C	rs202038528		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr16:78064472G>C	ENST00000575655.1	+	3	409	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	CLEC3A_ENST00000299642.4_Missense_Mutation_p.E119Q|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.E110*(1)|p.E110Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAACTCCGACGAAATCAACGC	0.478													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20685	0.0		0.0	False		,,,				2504	0.0					uc002ffh.3																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		upper_aerodigestive_tract(1)|lung(1)		0						c.(328-330)GAA>CAA		C-type lectin domain family 3 member A							79.0	71.0	73.0					16																	78064472		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064472G>C	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.328G>C	16.37:g.78064472G>C	ENSP00000460682:p.Glu110Gln						p.E110Q	NM_005752	NP_005743	O75596	CLC3A_HUMAN			3	409	+			110			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.328G>C		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	25.7	4.661424	0.88154	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	5.76	0.90799	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86044	0.1521	9	0.62326	D	0.03	-31.4051	19.9381	0.97149	0.0:0.0:1.0:0.0	.	110	O75596	CLC3A_HUMAN	Q	110	.	ENSP00000299642:E110Q	E	+	1	0	CLEC3A	76621973	1.000000	0.71417	0.770000	0.31555	0.804000	0.45430	9.420000	0.97426	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.478	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		24	81	24	81	---	---	---	---
INPP5K	51763	broad.mit.edu	37	17	1399417	1399417	+	Silent	SNP	C	C	T	rs200875024		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:1399417C>T	ENST00000421807.2	-	11	1615	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	INPP5K_ENST00000397335.3_Silent_p.E317E|INPP5K_ENST00000406424.4_Silent_p.E333E|INPP5K_ENST00000542125.1_Silent_p.E313E|INPP5K_ENST00000320345.6_Silent_p.E333E	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	409	Required for ruffle localization.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)	p.E409E(1)|p.E333E(1)		endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						AGAGGAGAAACTCATCTTCAG	0.562																																						uc002fsr.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1225-1227)GAG>GAA		inositol polyphosphate-5-phosphatase K isoform							84.0	71.0	76.0					17																	1399417		2203	4300	6503	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1399417C>T		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.1227G>A	17.37:g.1399417C>T						INPP5K_uc002fss.2_Silent_p.E333E|INPP5K_uc002fsq.2_Silent_p.E333E|INPP5K_uc010cjr.2_Silent_p.E333E|INPP5K_uc010vql.1_Silent_p.E317E|INPP5K_uc010vqm.1_Silent_p.E313E	p.E409E	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN			11	1616	-			409			Required for ruffle localization.		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.1227G>A	CCDS11004.1																																																																																				PASS	0.562	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			51	27	51	27	---	---	---	---
OR3A2	4995	broad.mit.edu	37	17	3181346	3181346	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:3181346T>A	ENST00000408891.2	-	1	922	c.884A>T	c.(883-885)aAc>aTc	p.N295I	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	295					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.N295I(1)		ovary(1)	1						GATAAGAGGGTTCAGCATAGG	0.478																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(883-885)AAC>ATC		olfactory receptor, family 3, subfamily A,							65.0	67.0	66.0					17																	3181346		2146	4273	6419	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181346T>A	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.884A>T	17.37:g.3181346T>A	ENSP00000386180:p.Asn295Ile						p.N295I	NM_002551	NP_002542	P47893	OR3A2_HUMAN			1	923	-			295			Helical; Name=7; (Potential).		Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.884A>T	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536488	0.65085	.	.	ENSG00000221882	ENST00000408891	T	0.59638	0.25	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000256	T	0.81781	0.4895	H	0.94698	3.57	0.35947	D	0.833606	D	0.89917	1.0	D	0.97110	1.0	D	0.89839	0.4001	10	0.87932	D	0	-20.7687	13.7665	0.62999	0.0:0.0:0.0:1.0	.	295	P47893	OR3A2_HUMAN	I	295	ENSP00000386180:N295I	ENSP00000386180:N295I	N	-	2	0	OR3A2	3128096	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.473000	0.66774	2.192000	0.70111	0.459000	0.35465	AAC		PASS	0.478	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			69	28	69	28	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C	rs587780070		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:7578395G>C	ENST00000269305.4	-	5	724	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM067054	TP53	M		c.(535-537)CAT>GAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578395		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578395G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>G	17.37:g.7578395G>C	ENSP00000269305:p.His179Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179D|TP53_uc002gih.2_Missense_Mutation_p.H179D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47D|TP53_uc010cng.1_Missense_Mutation_p.H47D|TP53_uc002gii.1_Missense_Mutation_p.H47D|TP53_uc010cnh.1_Missense_Mutation_p.H179D|TP53_uc010cni.1_Missense_Mutation_p.H179D|TP53_uc002gij.2_Missense_Mutation_p.H179D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86D|TP53_uc002gio.2_Missense_Mutation_p.H47D|TP53_uc010vug.1_Missense_Mutation_p.H140D	p.H179D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	729	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013188	0.93346	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99907	-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99904	0.9954	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.993;1.0;0.994;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.955;0.998;0.972;1.0;0.991;0.998;0.98	D	0.96140	0.9099	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179D;ENSP00000352610:H179D;ENSP00000269305:H179D;ENSP00000398846:H179D;ENSP00000391127:H179D;ENSP00000391478:H179D;ENSP00000425104:H47D;ENSP00000423862:H86D	ENSP00000269305:H179D	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		PASS	0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		51	24	51	24	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10358039	10358039	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:10358039G>T	ENST00000255381.2	-	22	2634	c.2524C>A	c.(2524-2526)Ccc>Acc	p.P842T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	842					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.P842T(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						TTGAGGAGGGGCTTGATCTTG	0.453																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(2524-2526)CCC>ACC		myosin, heavy polypeptide 4, skeletal muscle							157.0	142.0	147.0					17																	10358039		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.chr17:10358039G>T		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.2524C>A	17.37:g.10358039G>T	ENSP00000255381:p.Pro842Thr					uc002gml.1_Intron	p.P842T	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			22	2635	-			842						Missense_Mutation	SNP	ENST00000255381.2	37	c.2524C>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734808	0.69189	.	.	ENSG00000141048	ENST00000255381	D	0.93076	-3.16	5.17	4.21	0.49690	.	0.000000	0.37304	U	0.002159	D	0.97932	0.9320	H	0.99169	4.455	0.58432	D	0.999999	P	0.51933	0.949	P	0.60541	0.876	D	0.98945	1.0792	10	0.87932	D	0	.	14.2767	0.66184	0.0724:0.0:0.9276:0.0	.	842	Q9Y623	MYH4_HUMAN	T	842	ENSP00000255381:P842T	ENSP00000255381:P842T	P	-	1	0	MYH4	10298764	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.873000	0.87193	1.320000	0.45209	-0.363000	0.07495	CCC		PASS	0.453	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		47	34	47	34	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11797796	11797796	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:11797796G>A	ENST00000262442.4	+	59	11457	c.11389G>A	c.(11389-11391)Gcg>Acg	p.A3797T	DNAH9_ENST00000608377.1_Missense_Mutation_p.A109T|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.A3797T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3797					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A3797T(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCCATCAGGCGTGGGGAGC	0.547																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(11389-11391)GCG>ACG		dynein, axonemal, heavy chain 9 isoform 2							79.0	80.0	80.0					17																	11797796		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11797796G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11389G>A	17.37:g.11797796G>A	ENSP00000262442:p.Ala3797Thr					DNAH9_uc010coo.2_Missense_Mutation_p.A3091T|DNAH9_uc002gnf.2_Missense_Mutation_p.A109T|DNAH9_uc010vvh.1_Missense_Mutation_p.A150T	p.A3797T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	59	11457	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3797					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11389G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325603	0.41197	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.08720	3.06;3.06;3.06	5.03	3.96	0.45880	Dynein heavy chain (1);	0.114829	0.64402	D	0.000010	T	0.06554	0.0168	N	0.20685	0.6	0.33981	D	0.647923	B;B	0.28636	0.08;0.218	B;B	0.32090	0.14;0.1	T	0.16778	-1.0391	10	0.09338	T	0.73	.	16.7226	0.85414	0.0:0.0:0.827:0.173	.	150;3797	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	T	3797;3797;2379;109;150	ENSP00000262442:A3797T;ENSP00000414874:A3797T;ENSP00000379323:A109T	ENSP00000262442:A3797T	A	+	1	0	DNAH9	11738521	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.277000	0.51654	2.330000	0.79161	0.655000	0.94253	GCG		PASS	0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		42	33	42	33	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41245215	41245215	+	Missense_Mutation	SNP	C	C	T	rs431825390		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:41245215C>T	ENST00000357654.3	-	10	2451	c.2333G>A	c.(2332-2334)gGc>gAc	p.G778D	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.G778D|BRCA1_ENST00000471181.2_Missense_Mutation_p.G778D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.G482D|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.G731D|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.G778D	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	778			G -> C (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G778D(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCCTGAGTGCCATAATCAGT	0.418			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)	p.G778C(1)	lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(2332-2334)GGC>GAC	Homologous_recombination	breast cancer 1, early onset isoform 1							229.0	212.0	218.0					17																	41245215		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41245215C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2333G>A	17.37:g.41245215C>T	ENSP00000350283:p.Gly778Asp	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.G707D|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.G731D|BRCA1_uc002ict.2_Missense_Mutation_p.G778D|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.G778D|BRCA1_uc002ide.1_Missense_Mutation_p.G609D|BRCA1_uc010cyy.1_Missense_Mutation_p.G778D|BRCA1_uc010whs.1_Missense_Mutation_p.G778D|BRCA1_uc010cyz.2_Missense_Mutation_p.G731D|BRCA1_uc010cza.2_Missense_Mutation_p.G752D|BRCA1_uc010wht.1_Missense_Mutation_p.G482D	p.G778D	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2565	-		Breast(137;0.000717)	778		G -> C (in a breast cancer sample; somatic mutation).			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2333G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	1.797	-0.478085	0.04414	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.36	-1.11	0.09840	.	0.455288	0.20929	N	0.083122	T	0.36054	0.0953	N	0.13168	0.305	0.09310	N	1	B;B;B;B;B;B	0.27559	0.053;0.117;0.026;0.181;0.011;0.099	B;B;B;B;B;B	0.33960	0.064;0.085;0.085;0.08;0.173;0.108	T	0.38200	-0.9672	10	0.02654	T	1	.	8.063	0.30644	0.0:0.4166:0.0:0.5834	.	778;737;778;778;778;778	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	D	778;778;778;778;482;778;731	ENSP00000350283:G778D;ENSP00000326002:G778D;ENSP00000246907:G778D;ENSP00000310938:G482D;ENSP00000418960:G778D;ENSP00000418775:G731D	ENSP00000310938:G482D	G	-	2	0	BRCA1	38498741	0.053000	0.20554	0.002000	0.10522	0.793000	0.44817	0.401000	0.20948	-0.009000	0.14296	0.561000	0.74099	GGC		PASS	0.418	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		152	221	152	221	---	---	---	---
GRN	2896	broad.mit.edu	37	17	42429094	42429094	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:42429094C>T	ENST00000053867.3	+	10	1172	c.1110C>T	c.(1108-1110)agC>agT	p.S370S	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Silent_p.S213S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	370					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.S370S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATAATGTCAGCAGCTGTCCCT	0.612																																						uc002igp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1108-1110)AGC>AGT		granulin precursor							84.0	86.0	85.0					17																	42429094		2203	4299	6502	SO:0001819	synonymous_variant	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429094C>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1110C>T	17.37:g.42429094C>T						GRN_uc002igr.1_Silent_p.S164S	p.S370S	NM_002087	NP_002078	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	10	1329	+		Prostate(33;0.0181)	370					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	37	c.1110C>T	CCDS11483.1																																																																																				PASS	0.612	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		62	70	62	70	---	---	---	---
SCRN2	90507	broad.mit.edu	37	17	45915974	45915974	+	Silent	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:45915974G>A	ENST00000290216.9	-	6	986	c.861C>T	c.(859-861)gcC>gcT	p.A287A	SCRN2_ENST00000584123.1_Silent_p.A295A|SCRN2_ENST00000407215.3_Silent_p.A287A	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	287						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)	p.A287A(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						ACACCATGCTGGCCGTGGTGC	0.607																																						uc002imd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(859-861)GCC>GCT		secernin 2 isoform 1							109.0	95.0	100.0					17																	45915974		2203	4300	6503	SO:0001819	synonymous_variant	90507				proteolysis		dipeptidase activity	g.chr17:45915974G>A	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.861C>T	17.37:g.45915974G>A						SCRN2_uc002imc.2_Silent_p.A295A|SCRN2_uc002imf.2_Silent_p.A287A|SCRN2_uc002ime.2_RNA	p.A287A	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN			6	987	-			287					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	37	c.861C>T	CCDS11519.1																																																																																				PASS	0.607	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		46	74	46	74	---	---	---	---
CBX8	57332	broad.mit.edu	37	17	77768640	77768640	+	Missense_Mutation	SNP	G	G	C	rs570009194		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:77768640G>C	ENST00000269385.4	-	5	1081	c.964C>G	c.(964-966)Cgg>Ggg	p.R322G	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	322					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.R322G(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCCATGTCCCGGTACAGGCCC	0.701																																						uc002jxd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(964-966)CGG>GGG		chromobox homolog 8							13.0	17.0	16.0					17																	77768640		2154	4250	6404	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768640G>C	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.964C>G	17.37:g.77768640G>C	ENSP00000269385:p.Arg322Gly						p.R322G	NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1057	-			322					Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.964C>G	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	g	12.07	1.828105	0.32329	.	.	ENSG00000141570	ENST00000269385	T	0.46451	0.87	4.98	4.98	0.66077	.	1.697910	0.03156	N	0.168672	T	0.40932	0.1137	L	0.42245	1.32	0.39557	D	0.969072	B	0.13594	0.008	B	0.08055	0.003	T	0.19484	-1.0304	10	0.37606	T	0.19	-9.104	10.0423	0.42166	0.0:0.1482:0.6987:0.1531	.	322	Q9HC52	CBX8_HUMAN	G	322	ENSP00000269385:R322G	ENSP00000269385:R322G	R	-	1	2	CBX8	75383235	1.000000	0.71417	0.994000	0.49952	0.865000	0.49528	4.006000	0.57083	2.490000	0.84030	0.538000	0.68166	CGG		PASS	0.701	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		9	28	9	28	---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78071154	78071154	+	Silent	SNP	C	C	T	rs369736890		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr17:78071154C>T	ENST00000397545.4	+	19	3159	c.3132C>T	c.(3130-3132)ttC>ttT	p.F1044F		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1044					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.F1044F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCAGACTTCGACACACTCG	0.562																																						uc010dht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3130-3132)TTC>TTT		coiled-coil domain containing 40		C		0,4054		0,0,2027	51.0	58.0	56.0		3132	-9.2	0.0	17		56	1,8333		0,1,4166	no	coding-synonymous	CCDC40	NM_017950.3		0,1,6193	TT,TC,CC		0.012,0.0,0.0081		1044/1143	78071154	1,12387	2027	4167	6194	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78071154C>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3132C>T	17.37:g.78071154C>T						CCDC40_uc002jxm.3_Silent_p.F827F|CCDC40_uc002jxn.3_Silent_p.F440F	p.F1044F	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		19	3159	+	all_neural(118;0.167)		1044			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.3132C>T	CCDS42395.1																																																																																				PASS	0.562	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		12	107	12	107	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28712547	28712547	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr18:28712547G>T	ENST00000257198.5	-	14	2483	c.2222C>A	c.(2221-2223)cCt>cAt	p.P741H	DSC1_ENST00000257197.3_Missense_Mutation_p.P741H|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	741					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P741H(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTCTTCTCCAGGTCCTTCAGT	0.348																																						uc002kwn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(2221-2223)CCT>CAT		desmocollin 1 isoform Dsc1a preproprotein							207.0	200.0	202.0					18																	28712547		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712547G>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2222C>A	18.37:g.28712547G>T	ENSP00000257198:p.Pro741His					DSC1_uc002kwm.2_Missense_Mutation_p.P741H	p.P741H	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		14	2484	-			741			Cytoplasmic (Potential).		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2222C>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461401	0.84317	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.57595	0.39;0.39	5.84	5.84	0.93424	.	0.000000	0.52532	D	0.000063	T	0.76688	0.4022	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.78137	-0.2321	10	0.62326	D	0.03	.	19.745	0.96248	0.0:0.0:1.0:0.0	.	741;741	Q08554;Q9HB00	DSC1_HUMAN;.	H	741	ENSP00000257197:P741H;ENSP00000257198:P741H	ENSP00000257197:P741H	P	-	2	0	DSC1	26966545	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.245000	0.72398	2.765000	0.95021	0.655000	0.94253	CCT		PASS	0.348	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		69	158	69	158	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43458381	43458381	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr18:43458381G>T	ENST00000282041.5	-	34	5936	c.5902C>A	c.(5902-5904)Ctc>Atc	p.L1968I	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1968					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.L1968I(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGCTTAAAGAGCTGAATGATT	0.323																																						uc002lbm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5902-5904)CTC>ATC		hypothetical protein LOC57724							82.0	75.0	77.0					18																	43458381		1817	4064	5881	SO:0001583	missense	57724				autophagy			g.chr18:43458381G>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5902C>A	18.37:g.43458381G>T	ENSP00000282041:p.Leu1968Ile					KIAA1632_uc010xcq.1_Missense_Mutation_p.L522I|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.L843I	p.L1968I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			34	6002	-			1968					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.5902C>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740372	0.69304	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.12147	2.71	5.99	5.99	0.97316	.	.	.	.	.	T	0.19725	0.0474	L	0.59436	1.845	0.54753	D	0.999989	P	0.45715	0.865	B	0.39503	0.301	T	0.00692	-1.1607	9	0.62326	D	0.03	-11.2883	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1968	Q9HCE0	EPG5_HUMAN	I	1968;843	ENSP00000282041:L1968I	ENSP00000282041:L1968I	L	-	1	0	EPG5	41712379	1.000000	0.71417	0.993000	0.49108	0.850000	0.48378	4.416000	0.59815	2.840000	0.97914	0.655000	0.94253	CTC		PASS	0.323	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		35	82	35	82	---	---	---	---
HMHA1	23526	broad.mit.edu	37	19	1068656	1068656	+	Missense_Mutation	SNP	G	G	T	rs571895313		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:1068656G>T	ENST00000313093.2	+	2	565	c.334G>T	c.(334-336)Gtc>Ttc	p.V112F	HMHA1_ENST00000590214.1_Missense_Mutation_p.V139F|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000539243.2_Missense_Mutation_p.V128F|HMHA1_ENST00000586866.1_Missense_Mutation_p.V116F|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000543365.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	112					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.V112F(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCGGACGTCGTCGAGGA	0.692																																						uc002lqz.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(334-336)GTC>TTC		minor histocompatibility antigen HA-1							29.0	30.0	30.0					19																	1068656		2148	4232	6380	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068656G>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.334G>T	19.37:g.1068656G>T	ENSP00000316772:p.Val112Phe					HMHA1_uc010xgd.1_Missense_Mutation_p.V128F|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	p.V112F	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	565	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	112					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.334G>T	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	0.235	-1.018250	0.02078	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039	T;T	0.21031	2.03;2.04	3.35	-1.56	0.08532	.	0.861611	0.10099	N	0.716193	T	0.08179	0.0204	N	0.08118	0	0.09310	N	0.999991	B;B	0.30193	0.167;0.272	B;B	0.25759	0.045;0.063	T	0.26916	-1.0089	10	0.56958	D	0.05	-2.3896	2.8231	0.05477	0.3721:0.0:0.4271:0.2008	.	128;112	F6QP70;Q92619	.;HMHA1_HUMAN	F	128;112;112;106	ENSP00000439601:V128F;ENSP00000316772:V112F	ENSP00000316772:V112F	V	+	1	0	HMHA1	1019656	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.169000	0.16641	-0.170000	0.10816	0.555000	0.69702	GTC		PASS	0.692	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			11	40	11	40	---	---	---	---
FUT5	2527	broad.mit.edu	37	19	5867472	5867472	+	Missense_Mutation	SNP	C	C	G	rs141356302	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:5867472C>G	ENST00000588525.1	-	2	352	c.265G>C	c.(265-267)Gtg>Ctg	p.V89L	FUT5_ENST00000252675.5_Missense_Mutation_p.V89L	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	89					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.V89L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GGCAGAGCCACGGGTGTGTTA	0.662																																						uc002mdo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GTG>CTG		fucosyltransferase 5							51.0	51.0	51.0					19																	5867472		2203	4300	6503	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867472C>G		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.265G>C	19.37:g.5867472C>G	ENSP00000466880:p.Val89Leu					FUT5_uc010duo.2_Missense_Mutation_p.V89L	p.V89L	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	353	-			89			Lumenal (Potential).		A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.265G>C	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	C	1.364	-0.587848	0.03799	.	.	ENSG00000130383	ENST00000252675	T	0.25085	1.82	2.17	-0.227	0.13102	.	0.400647	0.19429	U	0.114496	T	0.11836	0.0288	N	0.17345	0.48	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.21415	-1.0246	10	0.27082	T	0.32	.	4.7875	0.13232	0.207:0.6427:0.0:0.1503	.	89	Q11128	FUT5_HUMAN	L	89	ENSP00000252675:V89L	ENSP00000252675:V89L	V	-	1	0	FUT5	5818472	0.000000	0.05858	0.030000	0.17652	0.001000	0.01503	-0.005000	0.12855	-0.128000	0.11641	-1.731000	0.00696	GTG		PASS	0.662	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		18	43	18	43	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6901981	6901981	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:6901981G>A	ENST00000312053.4	+	6	647	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.E152K|EMR1_ENST00000250572.8_Missense_Mutation_p.E204K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	204	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E204K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCCAGGATTTGAATCCAGCAG	0.473																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(610-612)GAA>AAA		egf-like module containing, mucin-like, hormone							197.0	200.0	199.0					19																	6901981		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6901981G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.610G>A	19.37:g.6901981G>A	ENSP00000311545:p.Glu204Lys					EMR1_uc010dvc.2_Missense_Mutation_p.E204K|EMR1_uc010dvb.2_Missense_Mutation_p.E152K|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Intron	p.E204K	NM_001974	NP_001965	Q14246	EMR1_HUMAN			6	648	+	all_hematologic(4;0.166)		204			Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.610G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	7.615	0.675632	0.14841	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572	D;D;D	0.87256	-2.23;-2.22;-2.23	3.97	1.26	0.21427	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.76205	0.3955	N	0.20328	0.56	0.09310	N	1	B;B;P	0.45044	0.228;0.27;0.849	B;B;P	0.47299	0.083;0.192;0.543	T	0.66508	-0.5906	9	0.06236	T	0.91	.	5.5673	0.17177	0.1366:0.2096:0.6537:0.0	.	204;152;204	Q14246-2;E9PD45;Q14246	.;.;EMR1_HUMAN	K	204;204;152;204	ENSP00000311545:E204K;ENSP00000370811:E152K;ENSP00000250572:E204K	ENSP00000250572:E204K	E	+	1	0	EMR1	6852981	0.000000	0.05858	0.041000	0.18516	0.090000	0.18270	0.113000	0.15499	0.646000	0.30693	0.558000	0.71614	GAA		PASS	0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			107	195	107	195	---	---	---	---
EVI5L	115704	broad.mit.edu	37	19	7914140	7914140	+	Splice_Site	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:7914140A>G	ENST00000270530.4	+	5	748		c.e5-1		EVI5L_ENST00000538904.2_Splice_Site	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like						negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.?(1)		breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GTTCCCTTCTAGGCATACTCG	0.652																																						uc002min.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e5-2		ecotropic viral integration site 5-like isoform							78.0	66.0	70.0					19																	7914140		2203	4300	6503	SO:0001630	splice_region_variant	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7914140A>G	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.553-1A>G	19.37:g.7914140A>G						EVI5L_uc010xjz.1_Splice_Site_p.A185_splice|EVI5L_uc002mio.1_5'Flank	p.A185_splice	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			5	707	+								B9A6I9	Splice_Site	SNP	ENST00000270530.4	37	c.553_splice	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	.	18.75	3.690327	0.68271	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0874	0.48095	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EVI5L	7820140	1.000000	0.71417	0.699000	0.30290	0.486000	0.33341	7.270000	0.78493	1.728000	0.51552	0.379000	0.24179	.		PASS	0.652	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245	Intron	25	54	25	54	---	---	---	---
OR2Z1	284383	broad.mit.edu	37	19	8842253	8842253	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:8842253T>C	ENST00000324060.2	+	1	938	c.863T>C	c.(862-864)cTt>cCt	p.L288P		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L288P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCAACCCCCTTATCTACAGT	0.517																																						uc010xkg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(862-864)CTT>CCT		olfactory receptor, family 2, subfamily Z,							136.0	118.0	124.0					19																	8842253		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842253T>C	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.863T>C	19.37:g.8842253T>C	ENSP00000316284:p.Leu288Pro						p.L288P	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	863	+			288			Helical; Name=7; (Potential).		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.863T>C	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560985	0.45590	.	.	ENSG00000181733	ENST00000324060	T	0.46451	0.87	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.802639	0.10972	N	0.613779	T	0.64583	0.2611	M	0.73753	2.245	0.52501	D	0.999956	D	0.89917	1.0	D	0.76071	0.987	T	0.63475	-0.6629	10	0.87932	D	0	.	12.1371	0.53977	0.0:0.0:0.0:1.0	.	288	Q8NG97	OR2Z1_HUMAN	P	288	ENSP00000316284:L288P	ENSP00000316284:L288P	L	+	2	0	OR2Z1	8703253	0.943000	0.32029	0.965000	0.40720	0.172000	0.22775	6.845000	0.75394	1.910000	0.55303	0.444000	0.29173	CTT		PASS	0.517	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			38	58	38	58	---	---	---	---
ZNF266	10781	broad.mit.edu	37	19	9524910	9524910	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:9524910T>C	ENST00000592904.1	-	5	2767	c.691A>G	c.(691-693)Atg>Gtg	p.M231V	ZNF266_ENST00000361451.2_Missense_Mutation_p.M231V|ZNF266_ENST00000590306.1_Missense_Mutation_p.M231V|ZNF266_ENST00000588933.1_Missense_Mutation_p.M231V|ZNF266_ENST00000592292.1_Missense_Mutation_p.M231V|ZNF266_ENST00000361151.1_Missense_Mutation_p.M231V|ZNF266_ENST00000588221.1_Missense_Mutation_p.M231V			Q14584	ZN266_HUMAN	zinc finger protein 266	231					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.M231V(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TGGGTTCCCATGTGAATATTA	0.428																																						uc002mll.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(691-693)ATG>GTG		zinc finger protein 266							103.0	94.0	97.0					19																	9524910		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9524910T>C	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.691A>G	19.37:g.9524910T>C	ENSP00000466714:p.Met231Val					ZNF266_uc002mlm.2_Missense_Mutation_p.M231V|ZNF266_uc002mln.2_Missense_Mutation_p.M231V|ZNF266_uc002mlo.2_Missense_Mutation_p.M231V|ZNF266_uc010dwp.2_Missense_Mutation_p.M231V|ZNF266_uc010dwq.2_Missense_Mutation_p.M231V	p.M231V	NM_198058	NP_932175	Q14584	ZN266_HUMAN			4	957	-			231			C2H2-type 3.		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.691A>G	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	T	3.993	-0.004129	0.07773	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.10573	2.86;2.86	2.91	-0.51	0.11973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	L	0.37466	1.105	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.41466	-0.9507	9	0.62326	D	0.03	.	0.2769	0.00239	0.2009:0.2565:0.2054:0.3372	.	231	Q14584	ZN266_HUMAN	V	231	ENSP00000354680:M231V;ENSP00000355047:M231V	ENSP00000355047:M231V	M	-	1	0	ZNF266	9385910	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.249000	0.08842	-0.184000	0.10567	0.454000	0.30748	ATG		PASS	0.428	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			32	56	32	56	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11096052	11096052	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:11096052C>T	ENST00000429416.3	+	4	607	c.326C>T	c.(325-327)cCg>cTg	p.P109L	SMARCA4_ENST00000413806.3_Missense_Mutation_p.P109L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P109L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P109L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P109L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P109L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P109L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P109L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P109L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	109	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P109L(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATGGGGCCCCCGCCCAGCCCC	0.587			"""F, N, Mis"""		NSCLC																																	uc002mqf.3				Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Missense(2)|Unknown(1)	p.?(1)	lung(3)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(325-327)CCG>CTG		SWI/SNF-related matrix-associated							39.0	39.0	39.0					19																	11096052		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11096052C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.326C>T	19.37:g.11096052C>T	ENSP00000395654:p.Pro109Leu					SMARCA4_uc010dxp.2_Missense_Mutation_p.P109L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P109L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P109L|SMARCA4_uc010dxq.2_Missense_Mutation_p.P109L|SMARCA4_uc010dxr.2_Missense_Mutation_p.P109L|SMARCA4_uc002mqj.3_Missense_Mutation_p.P109L|SMARCA4_uc010dxs.2_Missense_Mutation_p.P109L|SMARCA4_uc002mqe.2_Missense_Mutation_p.P109L	p.P109L	NM_003072	NP_003063	P51532	SMCA4_HUMAN			3	610	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	109			Necessary for interaction with SS18L1/CREST (By similarity).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.326C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159712	0.94727	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.89746	-2.56;-2.54;-2.56;-2.49;-2.48;-2.5;-2.49	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.92961	0.7760	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.74023	0.982;0.982;0.982;0.982;0.982;0.982;0.982	D	0.93752	0.7059	10	0.87932	D	0	-29.5029	16.4817	0.84159	0.0:1.0:0.0:0.0	.	109;109;109;109;109;109;109	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	L	109	ENSP00000395654:P109L;ENSP00000350720:P109L;ENSP00000343896:P109L;ENSP00000445036:P109L;ENSP00000392837:P109L;ENSP00000397783:P109L;ENSP00000414727:P109L	ENSP00000343896:P109L	P	+	2	0	SMARCA4	10957052	1.000000	0.71417	0.936000	0.37596	0.982000	0.71751	7.483000	0.81158	2.411000	0.81874	0.563000	0.77884	CCG		PASS	0.587	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		4	35	4	35	---	---	---	---
CCDC159	126075	broad.mit.edu	37	19	11460627	11460627	+	Silent	SNP	G	G	A	rs371000079		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:11460627G>A	ENST00000588790.1	+	5	516	c.69G>A	c.(67-69)gtG>gtA	p.V23V	CCDC159_ENST00000458408.1_Silent_p.V23V			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	138								p.V23V(1)|p.V138V(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGACCATTGTGATGATTCCCG	0.592																																						uc010xlw.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(316-318)GTG>GTA		coiled-coil domain-containing-like		G		0,3914		0,0,1957	54.0	55.0	55.0		69	-2.3	0.0	19		55	3,8301		0,3,4149	no	coding-synonymous	CCDC159	NM_001080503.2		0,3,6106	AA,AG,GG		0.0361,0.0,0.0246		23/298	11460627	3,12215	1957	4152	6109	SO:0001819	synonymous_variant	126075							g.chr19:11460627G>A	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.69G>A	19.37:g.11460627G>A						CCDC159_uc010xlr.1_Silent_p.V23V|CCDC159_uc010xls.1_Silent_p.V23V|CCDC159_uc010xlt.1_Silent_p.V23V|CCDC159_uc010xlu.1_Silent_p.V22V|CCDC159_uc010xlv.1_Silent_p.V22V	p.V106V	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN			4	397	+			138					B4DEG3|B4DWR8|B4E133|B7ZAM4	Silent	SNP	ENST00000588790.1	37	c.318G>A	CCDS45976.1																																																																																				PASS	0.592	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		5	41	5	41	---	---	---	---
CCDC151	115948	broad.mit.edu	37	19	11537702	11537702	+	Missense_Mutation	SNP	C	C	A	rs570654280		TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:11537702C>A	ENST00000356392.4	-	4	690	c.603G>T	c.(601-603)gaG>gaT	p.E201D	CCDC151_ENST00000586836.1_Missense_Mutation_p.E10D|CCDC151_ENST00000545100.1_Missense_Mutation_p.E147D|CCDC151_ENST00000591179.1_Missense_Mutation_p.E175D	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	201								p.E201D(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCTTGGCCACCTCCGTGTGTC	0.682																																						uc002mrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(601-603)GAG>GAT		coiled-coil domain containing 151							44.0	53.0	50.0					19																	11537702		2019	4176	6195	SO:0001583	missense	115948							g.chr19:11537702C>A		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.603G>T	19.37:g.11537702C>A	ENSP00000348757:p.Glu201Asp					CCDC151_uc002mrr.2_Missense_Mutation_p.E136D|CCDC151_uc010dxz.2_Missense_Mutation_p.E175D	p.E201D	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			4	746	-			201			Potential.		B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.603G>T	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465124	0.26335	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83335	-1.71;-1.71	4.86	2.56	0.30785	.	0.322313	0.32175	N	0.006475	D	0.83995	0.5375	L	0.50333	1.59	0.29875	N	0.826527	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.994	T	0.75448	-0.3314	10	0.30078	T	0.28	-22.416	3.2875	0.06937	0.1823:0.546:0.1764:0.0952	.	201;201;181	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	D	147;201;180	ENSP00000442987:E147D;ENSP00000348757:E201D	ENSP00000348757:E201D	E	-	3	2	CCDC151	11398702	0.837000	0.29446	0.549000	0.28204	0.184000	0.23303	1.267000	0.33050	0.386000	0.24997	0.561000	0.74099	GAG		PASS	0.682	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		38	69	38	69	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23543202	23543202	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:23543202C>A	ENST00000300619.7	-	4	2784	c.2579G>T	c.(2578-2580)gGc>gTc	p.G860V	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G828V|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	860					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G860V(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAAAGCTTTGCCACATTCCTC	0.348																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2578-2580)GGC>GTC		zinc finger protein 91							67.0	72.0	70.0					19																	23543202		2126	4270	6396	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543202C>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2579G>T	19.37:g.23543202C>A	ENSP00000300619:p.Gly860Val					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.G828V	p.G860V	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	2692	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	860			C2H2-type 26.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2579G>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763330	0.31228	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.59906	0.23;0.23	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78935	0.4362	H	0.96518	3.835	0.47065	D	0.999302	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77059	-0.2728	9	0.87932	D	0	.	5.0487	0.14497	0.0:0.7942:0.0:0.2058	.	828;860	Q05481-2;Q05481	.;ZNF91_HUMAN	V	860;828	ENSP00000300619:G860V;ENSP00000380272:G828V	ENSP00000300619:G860V	G	-	2	0	ZNF91	23335042	0.001000	0.12720	0.025000	0.17156	0.055000	0.15305	0.076000	0.14712	0.726000	0.32339	0.313000	0.20887	GGC		PASS	0.348	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		22	56	22	56	---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43414815	43414815	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:43414815T>C	ENST00000292125.2	-	3	667	c.623A>G	c.(622-624)aAg>aGg	p.K208R	PSG6_ENST00000402603.4_Missense_Mutation_p.K208R|PSG6_ENST00000187910.2_Missense_Mutation_p.K208R	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	208	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.K208R(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGCAATATACTTTGTGACACC	0.498																																						uc002ovj.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(622-624)AAG>AGG		pregnancy specific beta-1-glycoprotein 6 isoform							176.0	185.0	182.0					19																	43414815		2202	4297	6499	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43414815T>C		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.623A>G	19.37:g.43414815T>C	ENSP00000292125:p.Lys208Arg					PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.K215R|PSG6_uc002ovi.2_Missense_Mutation_p.K209R|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.K208R|PSG6_uc002ovg.1_Missense_Mutation_p.K208R	p.K208R	NM_002782	NP_002773	Q00889	PSG6_HUMAN			3	675	-		Prostate(69;0.00899)	208			Ig-like C2-type 1.		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.623A>G	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.150370	0.00328	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.12255	2.7;2.7;2.7	1.64	-3.28	0.05033	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03959	0.0111	N	0.02854	-0.475	0.09310	N	1	B;B;B	0.20052	0.001;0.005;0.041	B;B;B	0.26864	0.01;0.015;0.074	T	0.40664	-0.9551	9	0.02654	T	1	.	6.1457	0.20285	0.0:0.6832:0.0:0.3168	.	208;208;208	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	R	208	ENSP00000187910:K208R;ENSP00000385736:K208R;ENSP00000292125:K208R	ENSP00000187910:K208R	K	-	2	0	PSG6	48106655	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.297000	0.08276	-0.935000	0.03728	-1.224000	0.01588	AAG		PASS	0.498	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		3	280	3	280	---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43680259	43680259	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:43680259G>A	ENST00000366175.3	-	3	602	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	PSG5_ENST00000599812.1_Missense_Mutation_p.P251S|PSG5_ENST00000407356.1_Missense_Mutation_p.P158S|PSG5_ENST00000404580.1_Missense_Mutation_p.P158S|PSG5_ENST00000342951.6_Missense_Mutation_p.P158S|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	158	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P158S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTCTCCCTGGGTTTTGAGTTG	0.493																																						uc002ovu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(472-474)CCC>TCC		pregnancy specific beta-1-glycoprotein 5							250.0	233.0	239.0					19																	43680259		2202	4296	6498	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43680259G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.472C>T	19.37:g.43680259G>A	ENSP00000382334:p.Pro158Ser					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Missense_Mutation_p.P158S|PSG5_uc002ovv.2_Missense_Mutation_p.P251S|PSG5_uc002ovw.2_Intron	p.P158S	NM_002781	NP_002772	Q15238	PSG5_HUMAN			3	603	-		Prostate(69;0.00899)	158			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.472C>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	10.69	1.421360	0.25639	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	1.23	-0.454	0.12197	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36468	0.0968	M	0.90483	3.12	0.09310	N	1	D;P	0.71674	0.998;0.925	D;D	0.80764	0.994;0.945	T	0.09465	-1.0673	9	0.62326	D	0.03	.	4.4921	0.11819	0.0:0.4228:0.5772:0.0	.	251;158	Q15228;Q15238	.;PSG5_HUMAN	S	158	ENSP00000382334:P158S;ENSP00000386008:P158S;ENSP00000344413:P158S;ENSP00000385250:P158S	ENSP00000344413:P158S	P	-	1	0	PSG5	48372099	0.002000	0.14202	0.004000	0.12327	0.006000	0.05464	0.154000	0.16343	0.630000	0.30394	0.184000	0.17185	CCC		PASS	0.493	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		7	336	7	336	---	---	---	---
SULT2A1	6822	broad.mit.edu	37	19	48387031	48387031	+	Missense_Mutation	SNP	A	A	T	rs144058411	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:48387031A>T	ENST00000222002.3	-	2	287	c.148T>A	c.(148-150)Ttg>Atg	p.L50M		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	50					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.L50M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	ATCTCAGCCAACCAGTTTGTT	0.502																																						uc002phr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(148-150)TTG>ATG		bile-salt sulfotransferase 2A1							55.0	53.0	54.0					19																	48387031		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48387031A>T	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.148T>A	19.37:g.48387031A>T	ENSP00000222002:p.Leu50Met						p.L50M	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	2	288	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	50						Missense_Mutation	SNP	ENST00000222002.3	37	c.148T>A	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	a	0.054	-1.241041	0.01493	.	.	ENSG00000105398	ENST00000222002	D	0.85411	-1.98	3.56	-0.569	0.11756	Sulfotransferase domain (1);	0.224341	0.26334	N	0.024970	T	0.64349	0.2590	N	0.05608	-0.01	0.24761	N	0.99293	B	0.30179	0.271	B	0.39217	0.294	T	0.59883	-0.7370	10	0.02654	T	1	.	3.9432	0.09336	0.3166:0.0:0.1172:0.5662	.	50	Q06520	ST2A1_HUMAN	M	50	ENSP00000222002:L50M	ENSP00000222002:L50M	L	-	1	2	SULT2A1	53078843	0.998000	0.40836	0.888000	0.34837	0.164000	0.22412	0.261000	0.18442	0.027000	0.15297	-0.311000	0.09066	TTG		PASS	0.502	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		7	25	7	25	---	---	---	---
KLK7	5650	broad.mit.edu	37	19	51483083	51483083	+	Silent	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:51483083C>G	ENST00000391807.1	-	5	668	c.567G>C	c.(565-567)ctG>ctC	p.L189L	KLK7_ENST00000336317.4_Silent_p.L76L|KLK7_ENST00000595638.1_5'Flank|KLK7_ENST00000595820.1_Silent_p.L189L|KLK7_ENST00000597707.1_Silent_p.L117L|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	189	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L189L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGCCAGCGCACAGCATGGAAT	0.567																																						uc002puo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(565-567)CTG>CTC		stratum corneum chymotryptic enzyme							49.0	40.0	43.0					19																	51483083		2199	4296	6495	SO:0001819	synonymous_variant	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51483083C>G	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.567G>C	19.37:g.51483083C>G						KLK7_uc002pup.2_Silent_p.L189L|KLK7_uc010yco.1_Silent_p.L63L|KLK7_uc010eok.2_Silent_p.L117L	p.L189L	NM_139277	NP_644806	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	5	669	-		all_neural(266;0.026)	189			Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	37	c.567G>C	CCDS12812.1																																																																																				PASS	0.567	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		6	12	6	12	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53383976	53383976	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:53383976G>T	ENST00000595635.1	-	8	1904	c.1403C>A	c.(1402-1404)tCt>tAt	p.S468Y	ZNF320_ENST00000391781.2_Missense_Mutation_p.S468Y|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	468					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.S468Y(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACATTTGTAAGATTTCTGTCC	0.408																																						uc002qag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1402-1404)TCT>TAT		zinc finger protein 320							79.0	69.0	72.0					19																	53383976		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53383976G>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1403C>A	19.37:g.53383976G>T	ENSP00000473091:p.Ser468Tyr					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.S414Y|ZNF320_uc002qai.2_Missense_Mutation_p.S468Y	p.S468Y	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1594	-			468					Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1403C>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	15.61	2.884354	0.51908	.	.	ENSG00000182986	ENST00000391781	T	0.18338	2.22	1.75	0.572	0.17357	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24586	0.0596	L	0.59436	1.845	0.24460	N	0.994444	P	0.52170	0.951	P	0.51385	0.668	T	0.11446	-1.0587	9	0.87932	D	0	.	8.0629	0.30644	0.0:0.0:0.7555:0.2445	.	468	A2RRD8	ZN320_HUMAN	Y	468	ENSP00000375660:S468Y	ENSP00000375660:S468Y	S	-	2	0	ZNF320	58075788	0.007000	0.16637	0.006000	0.13384	0.538000	0.34931	0.975000	0.29449	0.057000	0.16193	0.194000	0.17425	TCT		PASS	0.408	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		8	73	8	73	---	---	---	---
ZNF677	342926	broad.mit.edu	37	19	53740505	53740505	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:53740505C>A	ENST00000598513.1	-	5	1625	c.1475G>T	c.(1474-1476)tGt>tTt	p.C492F	ZNF677_ENST00000333952.4_Missense_Mutation_p.C492F	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	492					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.C492F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGCTTTGCCACATTCAGTACA	0.363																																						uc002qbf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1474-1476)TGT>TTT		zinc finger protein 677							79.0	78.0	78.0					19																	53740505		2203	4299	6502	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740505C>A	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1475G>T	19.37:g.53740505C>A	ENSP00000469391:p.Cys492Phe					ZNF677_uc002qbg.1_Missense_Mutation_p.C492F	p.C492F	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1660	-			492			C2H2-type 9.			Missense_Mutation	SNP	ENST00000598513.1	37	c.1475G>T	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525804	0.27299	.	.	ENSG00000197928	ENST00000333952	D	0.85861	-2.04	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38058	N	0.001826	D	0.92450	0.7603	H	0.97131	3.945	0.32769	N	0.504024	D	0.56968	0.978	P	0.55577	0.779	D	0.94042	0.7310	10	0.87932	D	0	.	10.5214	0.44920	0.0:1.0:0.0:0.0	.	492	Q86XU0	ZN677_HUMAN	F	492	ENSP00000334394:C492F	ENSP00000334394:C492F	C	-	2	0	ZNF677	58432317	0.999000	0.42202	0.962000	0.40283	0.191000	0.23601	3.662000	0.54510	1.559000	0.49555	0.655000	0.94253	TGT		PASS	0.363	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		26	61	26	61	---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54417765	54417765	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:54417765G>C	ENST00000391767.1	+	3	420	c.208G>C	c.(208-210)Ggt>Cgt	p.G70R	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Missense_Mutation_p.G70R|CACNG7_ENST00000222212.2_Missense_Mutation_p.G70R			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	70					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G70R(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCGGGAGAAAGGTCGCTGTGT	0.552																																						uc002qcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(208-210)GGT>CGT		voltage-dependent calcium channel gamma-7							67.0	59.0	62.0					19																	54417765		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54417765G>C	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.208G>C	19.37:g.54417765G>C	ENSP00000375647:p.Gly70Arg					CACNG7_uc010era.1_Missense_Mutation_p.G70R	p.G70R	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	2	223	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		70					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.208G>C	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982442	0.74474	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.88975	-2.45;-2.45;-2.45	3.14	3.14	0.36123	.	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.73372	2.23	0.80722	D	1	P	0.41008	0.735	B	0.42798	0.398	D	0.89133	0.3511	10	0.51188	T	0.08	-8.4437	12.5577	0.56263	0.0:0.0:1.0:0.0	.	70	P62955	CCG7_HUMAN	R	70	ENSP00000375647:G70R;ENSP00000222212:G70R;ENSP00000375646:G70R	ENSP00000222212:G70R	G	+	1	0	CACNG7	59109577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.448000	0.73469	2.084000	0.62774	0.561000	0.74099	GGT		PASS	0.552	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			8	38	8	38	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56370090	56370090	+	Missense_Mutation	SNP	G	G	A	rs201242085	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:56370090G>A	ENST00000301295.6	+	3	1753	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	NLRP4_ENST00000346986.5_Missense_Mutation_p.R444H|NLRP4_ENST00000587891.1_Missense_Mutation_p.R369H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	444	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R444H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TACGGGGAGCGTGAGAGCTCC	0.532													G|||	7	0.00139776	0.0	0.0014	5008	,	,		18591	0.0		0.0	False		,,,				2504	0.0061					uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1330-1332)CGT>CAT		NLR family, pyrin domain containing 4							139.0	132.0	134.0					19																	56370090		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370090G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1331G>A	19.37:g.56370090G>A	ENSP00000301295:p.Arg444His					NLRP4_uc002qmf.2_Missense_Mutation_p.R369H|NLRP4_uc010etf.2_Missense_Mutation_p.R275H	p.R444H	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1753	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	444			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1331G>A	CCDS12936.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.35	1.326037	0.24080	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.84146	-1.81;-1.81	3.69	-1.56	0.08532	.	.	.	.	.	T	0.68952	0.3057	N	0.03050	-0.425	0.09310	N	1	B;D;D	0.69078	0.139;0.997;0.994	B;P;B	0.51453	0.031;0.67;0.389	T	0.63629	-0.6594	9	0.14656	T	0.56	.	7.235	0.26064	0.2213:0.5623:0.2164:0.0	.	444;369;444	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	H	444	ENSP00000301295:R444H;ENSP00000344787:R444H	ENSP00000301295:R444H	R	+	2	0	NLRP4	61061902	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.962000	0.01514	-0.267000	0.09325	0.467000	0.42956	CGT		PASS	0.532	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		44	110	44	110	---	---	---	---
ZNF264	9422	broad.mit.edu	37	19	57723617	57723617	+	Silent	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr19:57723617A>T	ENST00000263095.6	+	4	1566	c.1152A>T	c.(1150-1152)gcA>gcT	p.A384A	ZNF264_ENST00000536056.1_Silent_p.A384A	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	384					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.A384A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGGAGAGTGCAGCCCTGATTC	0.527																																						uc002qob.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1150-1152)GCA>GCT		zinc finger protein 264							75.0	75.0	75.0					19																	57723617		2203	4300	6503	SO:0001819	synonymous_variant	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723617A>T	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1152A>T	19.37:g.57723617A>T							p.A384A	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1565	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	384			C2H2-type 7.		A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	c.1152A>T	CCDS33127.1																																																																																				PASS	0.527	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			16	40	16	40	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37580822	37580822	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr20:37580822T>G	ENST00000217429.4	+	4	1548	c.1507T>G	c.(1507-1509)Tcc>Gcc	p.S503A		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	473					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S503A(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATCGAGATCTTCCAGTTTGAA	0.488																																						uc002xjg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1507-1509)TCC>GCC		hypothetical protein LOC81610							96.0	94.0	95.0					20																	37580822		1966	4138	6104	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580822T>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1507T>G	20.37:g.37580822T>G	ENSP00000217429:p.Ser503Ala						p.S503A	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			4	1548	+		Myeloproliferative disorder(115;0.00878)	473			Ser-rich.		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1507T>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570435	0.65765	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.17370	2.28	5.49	4.38	0.52667	.	0.385420	0.24930	N	0.034465	T	0.39358	0.1075	M	0.73598	2.24	0.33715	D	0.616297	D	0.64830	0.994	D	0.72625	0.978	T	0.54642	-0.8263	10	0.45353	T	0.12	.	11.3959	0.49841	0.0:0.0719:0.0:0.9281	.	473	Q9H4H8	FA83D_HUMAN	A	503;457	ENSP00000217429:S503A	ENSP00000217429:S503A	S	+	1	0	FAM83D	37014236	0.997000	0.39634	0.996000	0.52242	0.832000	0.47134	1.856000	0.39389	1.011000	0.39340	0.533000	0.62120	TCC		PASS	0.488	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			56	62	56	62	---	---	---	---
SEMG2	6407	broad.mit.edu	37	20	43851456	43851456	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr20:43851456C>G	ENST00000372769.3	+	2	1273	c.1183C>G	c.(1183-1185)Caa>Gaa	p.Q395E		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	395	4 X 60 AA tandem repeats, type I.|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.Q395E(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)				AATTCCTAGTCAAGCTCAAGA	0.398																																						uc010ggz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1183-1185)CAA>GAA		semenogelin II precursor							72.0	69.0	70.0					20																	43851456		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851456C>G		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.1183C>G	20.37:g.43851456C>G	ENSP00000361855:p.Gln395Glu					SEMG2_uc002xnk.2_Missense_Mutation_p.Q395E|SEMG2_uc002xnl.2_Intron	p.Q395E	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	1240	+		Myeloproliferative disorder(115;0.0122)	395			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.1183C>G	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288162	0.23478	.	.	ENSG00000124157	ENST00000372769	T	0.11277	2.79	1.05	1.05	0.20165	.	.	.	.	.	T	0.26521	0.0648	M	0.79475	2.455	0.09310	N	1	P;D	0.53885	0.932;0.963	D;D	0.68621	0.926;0.959	T	0.05162	-1.0902	9	0.40728	T	0.16	.	5.4377	0.16490	0.0:1.0:0.0:0.0	.	395;395	A8K6Z6;Q02383	.;SEMG2_HUMAN	E	395	ENSP00000361855:Q395E	ENSP00000361855:Q395E	Q	+	1	0	SEMG2	43284870	0.003000	0.15002	0.012000	0.15200	0.012000	0.07955	-0.259000	0.08721	0.862000	0.35528	0.411000	0.27672	CAA		PASS	0.398	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		6	63	6	63	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60901774	60901774	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr20:60901774T>C	ENST00000252999.3	-	40	5323	c.5257A>G	c.(5257-5259)Acg>Gcg	p.T1753A		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1753	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.T1753A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCCAGGCGTGGGGTATGCC	0.657																																						uc002ycq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5257-5259)ACG>GCG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						92.0	65.0	74.0					20																	60901774		2203	4300	6503	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60901774T>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5257A>G	20.37:g.60901774T>C	ENSP00000252999:p.Thr1753Ala						p.T1753A	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		40	5324	-	Breast(26;1.57e-08)		1753			Laminin IV type A.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.5257A>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.849804	0.00563	.	.	ENSG00000130702	ENST00000252999	T	0.34667	1.35	5.12	-4.38	0.03622	Laminin B type IV (2);Laminin B, subgroup (1);	0.936055	0.09071	N	0.852816	T	0.09291	0.0229	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23868	-1.0176	10	0.07030	T	0.85	.	1.5253	0.02524	0.2066:0.1627:0.3701:0.2606	.	1753	O15230	LAMA5_HUMAN	A	1753	ENSP00000252999:T1753A	ENSP00000252999:T1753A	T	-	1	0	LAMA5	60335169	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.901000	0.04093	-1.241000	0.02526	-0.375000	0.07067	ACG		PASS	0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		33	24	33	24	---	---	---	---
ARFGAP1	55738	broad.mit.edu	37	20	61907461	61907461	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr20:61907461G>A	ENST00000370283.4	+	3	219	c.79G>A	c.(79-81)Gcg>Acg	p.A27T	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.A27T|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.A27T|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000547204.1_Intron	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	27	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)	p.A27T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TGAGTGTGGCGCGTTCAATCC	0.612																																						uc002yem.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(79-81)GCG>ACG		ADP-ribosylation factor GTPase activating							148.0	135.0	139.0					20																	61907461		2203	4300	6503	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61907461G>A	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.79G>A	20.37:g.61907461G>A	ENSP00000359306:p.Ala27Thr					ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.A27T|ARFGAP1_uc002yen.2_Missense_Mutation_p.A27T	p.A27T	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			3	191	+	all_cancers(38;1.59e-09)		27			C4-type.|Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.79G>A	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386910	0.61956	.	.	ENSG00000101199	ENST00000370283;ENST00000523114;ENST00000370275;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	4.68	2.66	0.31614	.	0.110169	0.64402	N	0.000010	T	0.48822	0.1521	L	0.39147	1.195	0.80722	D	1	D;P;P	0.89917	1.0;0.952;0.94	D;B;B	0.77004	0.989;0.259;0.139	T	0.28681	-1.0036	10	0.24483	T	0.36	-5.765	9.202	0.37265	0.0773:0.0:0.7772:0.1455	.	27;27;27	B7ZBI2;Q8N6T3;Q8N6T3-2	.;ARFG1_HUMAN;.	T	27	ENSP00000359306:A27T;ENSP00000428355:A27T;ENSP00000359298:A27T;ENSP00000314615:A27T;ENSP00000430929:A27T;ENSP00000449515:A27T	ENSP00000314615:A27T	A	+	1	0	ARFGAP1	61377906	1.000000	0.71417	0.017000	0.16124	0.894000	0.52154	6.437000	0.73421	0.477000	0.27464	0.462000	0.41574	GCG		PASS	0.612	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		10	213	10	213	---	---	---	---
TFF3	7033	broad.mit.edu	37	21	43735446	43735446	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr21:43735446C>T	ENST00000518498.1	-	1	315	c.81G>A	c.(79-81)ctG>ctA	p.L27L	TFF3_ENST00000291525.10_Silent_p.L63L|TFF3_ENST00000489676.1_5'Flank			Q07654	TFF3_HUMAN	trefoil factor 3 (intestinal)	13					defense response (GO:0006952)|digestion (GO:0007586)|response to peptide hormone (GO:0043434)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.L63L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACAGCAAGGCCAGGACCAGCC	0.647																																						uc002zav.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(187-189)CTG>CTA		trefoil factor 3 precursor							74.0	62.0	66.0					21																	43735446		2203	4300	6503	SO:0001819	synonymous_variant	7033				defense response|digestion	apical lamina of hyaline layer		g.chr21:43735446C>T	AF432265	CCDS33565.1, CCDS33565.2	21q22.3	2006-05-16			ENSG00000160180	ENSG00000160180			11757	protein-coding gene	gene with protein product		600633				7718582, 9043862	Standard	NM_003226		Approved	HITF, ITF	uc002zav.3	Q07654	OTTHUMG00000086798	ENST00000518498.1:c.81G>A	21.37:g.43735446C>T							p.L63L	NM_003226	NP_003217	Q07654	TFF3_HUMAN			1	261	-			13					E9PBB5|Q96NX0|Q9UDA5	Silent	SNP	ENST00000518498.1	37	c.189G>A	CCDS33565.2	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628824	0.03610	.	.	ENSG00000160180	ENST00000398431	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	T	0.62233	0.2411	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60326	-0.7285	4	.	.	.	-12.548	11.9358	0.52872	0.0:1.0:0.0:0.0	.	.	.	.	S	1	.	.	G	-	1	0	TFF3	42608515	0.931000	0.31567	0.519000	0.27824	0.075000	0.17131	1.492000	0.35594	2.262000	0.75019	0.655000	0.94253	GGC		PASS	0.647	TFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195358.2	NM_003226		30	31	30	31	---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19394780	19394780	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:19394780G>A	ENST00000263208.5	-	4	485	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	HIRA_ENST00000541063.1_Missense_Mutation_p.R33W|HIRA_ENST00000340170.4_Missense_Mutation_p.R77W|HIRA_ENST00000546308.1_Missense_Mutation_p.R33W|HIRA_ENST00000464189.1_5'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	77					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R77W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTTGACCACCGCACACAGTTC	0.423																																						uc002zpf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)CGG>TGG		HIR histone cell cycle regulation defective							124.0	113.0	117.0					22																	19394780		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19394780G>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.229C>T	22.37:g.19394780G>A	ENSP00000263208:p.Arg77Trp					HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.R77W|HIRA_uc010gro.1_Missense_Mutation_p.R33W|HIRA_uc010grp.2_RNA	p.R77W	NM_003325	NP_003316	P54198	HIRA_HUMAN			4	449	-	Colorectal(54;0.0993)		77			WD 2.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.229C>T	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588215	0.66105	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	M	0.87456	2.885	0.80722	D	1	D;B	0.89917	1.0;0.397	D;B	0.83275	0.996;0.262	D	0.84052	0.0370	10	0.87932	D	0	-19.9784	18.0322	0.89288	0.0:0.0:1.0:0.0	.	77;77	P54198-2;P54198	.;HIRA_HUMAN	W	77;77;33;33	ENSP00000345350:R77W;ENSP00000263208:R77W;ENSP00000446073:R33W;ENSP00000441870:R33W	ENSP00000263208:R77W	R	-	1	2	HIRA	17774780	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.199000	0.95003	2.481000	0.83766	0.655000	0.94253	CGG		PASS	0.423	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		4	125	4	125	---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21988721	21988721	+	Silent	SNP	T	T	C			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:21988721T>C	ENST00000292779.3	+	3	644	c.483T>C	c.(481-483)caT>caC	p.H161H	CCDC116_ENST00000607942.1_Silent_p.H161H	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	161								p.H161H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCAACTGCCATAGCAGCCTCA	0.627																																						uc002zve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(481-483)CAT>CAC		coiled-coil domain containing 116							62.0	70.0	67.0					22																	21988721		2201	4300	6501	SO:0001819	synonymous_variant	164592							g.chr22:21988721T>C	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.483T>C	22.37:g.21988721T>C						CCDC116_uc011aih.1_Silent_p.H161H	p.H161H	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			3	576	+	Colorectal(54;0.105)		161					Q8N9Y9	Silent	SNP	ENST00000292779.3	37	c.483T>C	CCDS13791.1																																																																																				PASS	0.627	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		46	50	46	50	---	---	---	---
IGLV3-19	28797	broad.mit.edu	37	22	23063563	23063563	+	RNA	SNP	C	C	A	rs532332815	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:23063563C>A	ENST00000390309.2	+	0	310									immunoglobulin lambda variable 3-19																		ACACAGCTTCCTTGACCATCA	0.542													N|||	3	0.000599042	0.0	0.0	5008	,	,		16654	0.0		0.002	False		,,,				2504	0.001					uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							63.0	66.0	65.0					22																	23063563		1946	4143	6089			96610							g.chr22:23063563C>A	X56178		22q11.2	2012-02-08			ENSG00000211663	ENSG00000211663		"""Immunoglobulins / IGL locus"""	5903	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151226		22.37:g.23063563C>A														167		+									RNA	SNP	ENST00000390309.2	37	c.9762C>A																																																																																					PASS	0.542	IGLV3-19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321830.1	NG_000002		29	34	29	34	---	---	---	---
IGLL5	100423062	broad.mit.edu	37	22	23237706	23237706	+	Silent	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:23237706G>A	ENST00000526893.1	+	3	751	c.477G>A	c.(475-477)gcG>gcA	p.A159A	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000532223.2_Silent_p.A160A|IGLL5_ENST00000531372.1_3'UTR|IGLJ1_ENST00000390320.2_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	159	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)		p.A159A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCGTCAAGGCGGGAGTGGAGA	0.592																																						uc011aim.1																			1	Substitution - coding silent(1)		lung(1)		0								Parts of antibodies, mostly variable regions.							84.0	86.0	86.0					22																	23237706		2202	4295	6497	SO:0001819	synonymous_variant	96610							g.chr22:23237706G>A	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"""Immunoglobulin superfamily / C1-set domain containing"""	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.477G>A	22.37:g.23237706G>A						uc011aiw.1_Silent_p.A159A|uc010gtu.1_RNA|uc002zws.2_Intron								363		+									RNA	SNP	ENST00000526893.1	37	c.15109G>A	CCDS54506.1																																																																																				PASS	0.592	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		5	73	5	73	---	---	---	---
ADORA2A	135	broad.mit.edu	37	22	24837046	24837046	+	Silent	SNP	C	C	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:24837046C>G	ENST00000337539.7	+	3	1287	c.828C>G	c.(826-828)ctC>ctG	p.L276L	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	276					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.L276L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CCATCGTCCTCTCCCACACCA	0.587																																						uc002zzx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(826-828)CTC>CTG		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						103.0	95.0	97.0					22																	24837046		2203	4300	6503	SO:0001819	synonymous_variant	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24837046C>G	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.828C>G	22.37:g.24837046C>G						ADORA2A_uc002zzy.3_Silent_p.L276L|ADORA2A_uc011ajs.1_Silent_p.L137L|ADORA2A_uc010gup.2_Silent_p.L276L|ADORA2A_uc010guq.2_Silent_p.L276L|ADORA2A_uc003aab.2_Silent_p.L276L|ADORA2A_uc003aac.2_Silent_p.L137L|C22orf45_uc003aad.1_Intron	p.L276L	NM_000675	NP_000666	P29274	AA2AR_HUMAN			5	1591	+	Colorectal(2;0.196)		276			Helical; Name=7.		B2R7E0	Silent	SNP	ENST00000337539.7	37	c.828C>G	CCDS13826.1																																																																																				PASS	0.587	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		7	103	7	103	---	---	---	---
ADORA2A	135	broad.mit.edu	37	22	24837160	24837160	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:24837160C>A	ENST00000337539.7	+	3	1401	c.942C>A	c.(940-942)ttC>ttA	p.F314L	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	314					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.F314L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	AAGAACCTTTCAAGGCAGCTG	0.617																																						uc002zzx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)TTC>TTA		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						60.0	49.0	53.0					22																	24837160		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24837160C>A	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.942C>A	22.37:g.24837160C>A	ENSP00000336630:p.Phe314Leu					ADORA2A_uc002zzy.3_Missense_Mutation_p.F314L|ADORA2A_uc011ajs.1_Missense_Mutation_p.F175L|ADORA2A_uc010gup.2_Missense_Mutation_p.F314L|ADORA2A_uc010guq.2_Missense_Mutation_p.F314L|ADORA2A_uc003aab.2_Missense_Mutation_p.F314L|ADORA2A_uc003aac.2_Missense_Mutation_p.F175L|C22orf45_uc003aad.1_Intron	p.F314L	NM_000675	NP_000666	P29274	AA2AR_HUMAN			5	1705	+	Colorectal(2;0.196)		314			Cytoplasmic.		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.942C>A	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230036	0.22542	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.64085	-0.03;-0.08	4.95	4.95	0.65309	.	0.375085	0.27686	N	0.018272	T	0.49133	0.1539	L	0.39397	1.21	0.36703	D	0.880212	B	0.06786	0.001	B	0.01281	0.0	T	0.48547	-0.9026	10	0.09338	T	0.73	-34.9049	12.6331	0.56669	0.1653:0.8347:0.0:0.0	.	314	P29274	AA2AR_HUMAN	L	314	ENSP00000414802:F314L;ENSP00000336630:F314L	ENSP00000336630:F314L	F	+	3	2	ADORA2A	23167160	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.155000	0.31700	2.473000	0.83533	0.462000	0.41574	TTC		PASS	0.617	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		6	72	6	72	---	---	---	---
GGT1	2678	broad.mit.edu	37	22	24985841	24985841	+	Intron	SNP	A	A	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:24985841A>G	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'UTR|FAM211B_ENST00000318753.8_Missense_Mutation_p.I85T	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.I85T(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GTCATGGGAGATGGGGTCGAC	0.622																																						uc003aaq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)ATC>ACC		hypothetical protein LOC388886							57.0	62.0	60.0					22																	24985841		1957	4154	6111	SO:0001627	intron_variant	388886							g.chr22:24985841A>G	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+6065A>G	22.37:g.24985841A>G						GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_5'Flank|C22orf36_uc003aap.2_RNA	p.I85T	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN			2	283	-			85					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.254T>C	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362648	0.61403	.	.	ENSG00000178026	ENST00000318753	T	0.59083	0.29	4.36	3.29	0.37713	.	0.000000	0.64402	U	0.000001	T	0.69024	0.3065	M	0.73962	2.25	0.45354	D	0.998348	D	0.58268	0.982	P	0.60345	0.873	T	0.69304	-0.5180	10	0.54805	T	0.06	.	9.5658	0.39398	0.9108:0.0:0.0892:0.0	.	85	Q2VPJ9	LRC6X_HUMAN	T	85	ENSP00000320520:I85T	ENSP00000320520:I85T	I	-	2	0	C22orf36	23315841	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	5.164000	0.64954	0.756000	0.33013	0.448000	0.29417	ATC		PASS	0.622	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		18	48	18	48	---	---	---	---
ISX	91464	broad.mit.edu	37	22	35463100	35463100	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:35463100C>A	ENST00000308700.6	+	1	972	c.20C>A	c.(19-21)cCt>cAt	p.P7H	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Missense_Mutation_p.P7H	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	7					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P7H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GAGGTGGGCCCTGCTCTCTGC	0.597																																						uc003anj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(19-21)CCT>CAT		intestine-specific homeobox							39.0	40.0	40.0					22																	35463100		2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463100C>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.20C>A	22.37:g.35463100C>A	ENSP00000311492:p.Pro7His					ISX_uc011amg.1_Translation_Start_Site	p.P7H	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			1	971	+			7					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.20C>A	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.119846	0.56613	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.89552	-2.53;-2.53	3.75	3.75	0.43078	.	0.000000	0.38663	N	0.001607	D	0.88727	0.6515	L	0.29908	0.895	0.09310	N	0.999996	D	0.76494	0.999	D	0.64042	0.921	T	0.80200	-0.1481	10	0.42905	T	0.14	.	11.3672	0.49679	0.0:1.0:0.0:0.0	.	7	Q2M1V0	ISX_HUMAN	H	7	ENSP00000311492:P7H;ENSP00000386037:P7H	ENSP00000311492:P7H	P	+	2	0	ISX	33793100	0.000000	0.05858	0.180000	0.23079	0.032000	0.12392	0.344000	0.19962	2.383000	0.81215	0.655000	0.94253	CCT		PASS	0.597	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		28	35	28	35	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41716691	41716691	+	Silent	SNP	C	C	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:41716691C>T	ENST00000352645.4	+	2	284	c.27C>T	c.(25-27)gaC>gaT	p.D9D	ZC3H7B_ENST00000351589.4_Silent_p.D9D	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	9					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D9D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGAAGGCGGACATCGAGAAAG	0.607																																						uc003azw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(25-27)GAC>GAT		zinc finger CCCH-type containing 7B							150.0	114.0	126.0					22																	41716691		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41716691C>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.27C>T	22.37:g.41716691C>T						ZC3H7B_uc003azv.1_Silent_p.D9D|ZC3H7B_uc010gyl.1_Intron	p.D9D	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			2	243	+			9					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.27C>T	CCDS14013.1																																																																																				PASS	0.607	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		26	173	26	173	---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50278006	50278006	+	Silent	SNP	T	T	G			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr22:50278006T>G	ENST00000216268.5	+	2	1173	c.696T>G	c.(694-696)tcT>tcG	p.S232S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	232						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S232S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TAGTTTCTTCTGAAGAAATCT	0.527																																						uc003bix.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(694-696)TCT>TCG		zinc finger, BED-type containing 4							57.0	60.0	59.0					22																	50278006		2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278006T>G	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.696T>G	22.37:g.50278006T>G							p.S232S	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1166	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	232					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.696T>G	CCDS33677.1																																																																																				PASS	0.527	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		37	109	37	109	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83320047	83320047	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chrX:83320047A>T	ENST00000262752.2	-	21	2051	c.2044T>A	c.(2044-2046)Tgg>Agg	p.W682R	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W682R	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	682	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.W682R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGAGTTATCCATGAGTGCTTT	0.363																																						uc004eej.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(2044-2046)TGG>AGG		ribosomal protein S6 kinase polypeptide 6							195.0	167.0	177.0					X																	83320047		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83320047A>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2044T>A	X.37:g.83320047A>T	ENSP00000262752:p.Trp682Arg					RPS6KA6_uc011mqt.1_Missense_Mutation_p.W682R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.W579R	p.W682R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			21	2121	-			682			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.2044T>A	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977495	0.74360	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.69435	-0.4;-0.4	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.89411	0.3703	10	0.87932	D	0	.	13.8553	0.63522	1.0:0.0:0.0:0.0	.	682;682	B7ZL90;Q9UK32	.;KS6A6_HUMAN	R	682	ENSP00000262752:W682R;ENSP00000440830:W682R	ENSP00000262752:W682R	W	-	1	0	RPS6KA6	83206703	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	8.408000	0.90221	1.716000	0.51395	0.486000	0.48141	TGG		PASS	0.363	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		32	95	32	95	---	---	---	---
TCEAL2	140597	broad.mit.edu	37	X	101382216	101382216	+	Silent	SNP	C	C	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chrX:101382216C>A	ENST00000372780.1	+	3	633	c.414C>A	c.(412-414)gcC>gcA	p.A138A	TCEAL2_ENST00000329035.2_Silent_p.A138A	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A138A(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CCAGGAAAGCCAAAAGAAAAA	0.463																																						uc004eip.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(412-414)GCC>GCA		transcription elongation factor A (SII)-like 2							109.0	107.0	108.0					X																	101382216		2203	4300	6503	SO:0001819	synonymous_variant	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382216C>A	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.414C>A	X.37:g.101382216C>A							p.A138A	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN			3	633	+			138					B2R5C7	Silent	SNP	ENST00000372780.1	37	c.414C>A	CCDS14496.1																																																																																				PASS	0.463	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		50	35	50	35	---	---	---	---
NUP62CL	54830	broad.mit.edu	37	X	106410992	106410992	+	Silent	SNP	G	G	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chrX:106410992G>A	ENST00000372466.4	-	4	332	c.81C>T	c.(79-81)acC>acT	p.T27T	NUP62CL_ENST00000372461.3_Silent_p.T27T	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	27	Thr-rich.				protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.T27T(1)		lung(4)	4						tgaaagtggcggtggtagtcg	0.353																																						uc004ena.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(79-81)ACC>ACT		nucleoporin 62kDa C-terminal like							222.0	186.0	198.0					X																	106410992		2203	4300	6503	SO:0001819	synonymous_variant	54830				protein transport	nuclear pore	structural constituent of nuclear pore	g.chrX:106410992G>A	AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.81C>T	X.37:g.106410992G>A						NUP62CL_uc004enb.2_RNA	p.T27T	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN			4	340	-			27			Thr-rich.		D3DUX4|Q8WVL6|Q9NXP2	Silent	SNP	ENST00000372466.4	37	c.81C>T	CCDS14527.1																																																																																				PASS	0.353	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681		32	105	32	105	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153136600	153136600	+	Silent	SNP	G	G	T			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chrX:153136600G>T	ENST00000370060.1	-	6	624	c.435C>A	c.(433-435)ccC>ccA	p.P145P	L1CAM_ENST00000361699.4_Silent_p.P145P|L1CAM_ENST00000361981.3_Silent_p.P140P|L1CAM_ENST00000370055.1_Silent_p.P140P|L1CAM_ENST00000543994.1_Silent_p.P147P|L1CAM_ENST00000370057.3_Silent_p.P145P|L1CAM_ENST00000538883.1_Silent_p.P147P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	145	Ig-like C2-type 2.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.P145P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACCTCCACGGGCTTCACTG	0.617																																						uc004fjb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.(433-435)CCC>CCA		L1 cell adhesion molecule isoform 1 precursor							43.0	38.0	40.0					X																	153136600		2203	4299	6502	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153136600G>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.435C>A	X.37:g.153136600G>T						L1CAM_uc004fjc.2_Silent_p.P145P|L1CAM_uc010nuo.2_Silent_p.P140P|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.P140P	p.P145P	NM_000425	NP_000416	P32004	L1CAM_HUMAN			5	543	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		145			Extracellular (Potential).|Ig-like C2-type 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.435C>A	CCDS14733.1																																																																																				PASS	0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		39	15	39	15	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588718	204588718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr1:204588718delG	ENST00000367175.1	-	1	2615	c.403delC	c.(403-405)cacfs	p.H135fs	LRRN2_ENST00000367177.3_Frame_Shift_Del_p.H135fs|LRRN2_ENST00000367176.3_Frame_Shift_Del_p.H135fs|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	135					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCAAAGCTGTGGTCCTCCAGC	0.597																																						uc001hbe.1																			0				central_nervous_system(2)	2						c.(403-405)CACfs		leucine rich repeat neuronal 2 precursor							80.0	86.0	83.0					1																	204588718		2203	4300	6503	SO:0001589	frameshift_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588718delG	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.403delC	1.37:g.204588718delG	ENSP00000356143:p.His135fs					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Frame_Shift_Del_p.H135fs|LRRN2_uc009xbf.1_Frame_Shift_Del_p.H135fs|MDM4_uc001hbc.2_Intron	p.H135fs	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	791	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		135			LRR 3.|Extracellular (Potential).		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Frame_Shift_Del	DEL	ENST00000367175.1	37	c.403delC	CCDS1448.1																																																																																					0.597	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		152	116	152	116	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185803334	185803334	+	Frame_Shift_Del	DEL	C	C	-			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr2:185803334delC	ENST00000302277.6	+	4	3805	c.3211delC	c.(3211-3213)ccafs	p.P1071fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1071							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TACCTTTCCTCCAGCTGCCCT	0.468																																						uc002uph.2																			0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3211-3213)CCAfs		zinc finger protein 804A							93.0	87.0	89.0					2																	185803334		2203	4300	6503	SO:0001589	frameshift_variant	91752					intracellular	zinc ion binding	g.chr2:185803334delC	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3211delC	2.37:g.185803334delC	ENSP00000303252:p.Pro1071fs						p.P1071fs	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3805	+			1071					A7E253|Q6ZN26	Frame_Shift_Del	DEL	ENST00000302277.6	37	c.3211delC	CCDS2291.1																																																																																					0.468	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		100	48	100	48	---	---	---	---
RFTN1	23180	broad.mit.edu	37	3	16475533	16475534	+	Frame_Shift_Ins	INS	-	-	A			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr3:16475533_16475534insA	ENST00000334133.4	-	3	428_429	c.156_157insT	c.(154-159)cctgggfs	p.G53fs	RFTN1_ENST00000432519.1_Frame_Shift_Ins_p.G17fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	53					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GCTGAGGACCCAGGGAGCTCCG	0.668																																						uc003cay.2																			0				ovary(3)|central_nervous_system(1)	4						c.(154-159)CCTGGGfs		raft-linking protein																																				SO:0001589	frameshift_variant	23180					plasma membrane		g.chr3:16475533_16475534insA	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.157dupT	3.37:g.16475534_16475534dupA	ENSP00000334153:p.Gly53fs					RFTN1_uc010hes.2_Frame_Shift_Ins_p.P16fs	p.P52fs	NM_015150	NP_055965	Q14699	RFTN1_HUMAN			3	438_439	-			52_53					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Frame_Shift_Ins	INS	ENST00000334133.4	37	c.156_157insT	CCDS33712.1																																																																																					0.668	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		21	11	21	11	---	---	---	---
NEIL3	55247	broad.mit.edu	37	4	178272546	178272546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr4:178272546delT	ENST00000264596.3	+	7	1000	c.882delT	c.(880-882)actfs	p.T294fs	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	294					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AGCTACCGACTAGAAATACTA	0.368								Base excision repair (BER), DNA glycosylases																														uc003iut.2																			0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(880-882)ACTfs	BER_DNA_glycosylases	nei endonuclease VIII-like 3							89.0	86.0	87.0					4																	178272546		2203	4300	6503	SO:0001589	frameshift_variant	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178272546delT	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.882delT	4.37:g.178272546delT	ENSP00000264596:p.Thr294fs					NEIL3_uc010irs.2_Intron	p.T294fs	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	7	999	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	294					Q2PPJ3|Q8NG51|Q9NV95	Frame_Shift_Del	DEL	ENST00000264596.3	37	c.882delT	CCDS3828.1																																																																																					0.368	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		44	51	44	51	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99944959	99944959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr11:99944959delC	ENST00000524871.1	+	13	1803	c.1513delC	c.(1513-1515)cccfs	p.P505fs	CNTN5_ENST00000528682.1_Frame_Shift_Del_p.P505fs|CNTN5_ENST00000418526.2_Frame_Shift_Del_p.P431fs|CNTN5_ENST00000527185.1_Frame_Shift_Del_p.P505fs|CNTN5_ENST00000279463.3_Frame_Shift_Del_p.P505fs	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	505	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGAGTGCAAACCCCAAGGCTC	0.358																																						uc001pga.2																			0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1513-1515)CCCfs		contactin 5 isoform long							64.0	64.0	64.0					11																	99944959		1843	4085	5928	SO:0001589	frameshift_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99944959delC	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1513delC	11.37:g.99944959delC	ENSP00000435637:p.Pro505fs					CNTN5_uc009ywv.1_Frame_Shift_Del_p.P505fs|CNTN5_uc001pfz.2_Frame_Shift_Del_p.P505fs|CNTN5_uc001pgb.2_Frame_Shift_Del_p.P431fs	p.P505fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	13	1852	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	505			Ig-like C2-type 5.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Frame_Shift_Del	DEL	ENST00000524871.1	37	c.1513delC	CCDS53696.1																																																																																					0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		18	8	18	8	---	---	---	---
CEP170B	283638	broad.mit.edu	37	14	105352885	105352890	+	In_Frame_Del	DEL	GCAGGA	GCAGGA	-	rs60001925|rs150426191	byFrequency	TCGA-39-5037-01A-01D-1441-08	TCGA-39-5037-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	825bd82c-f8f8-4776-a7f5-713b3a574955	49c61aed-235e-47df-ad64-e31b0a84068f	g.chr14:105352885_105352890delGCAGGA	ENST00000414716.3	+	12	2537_2542	c.2309_2314delGCAGGA	c.(2308-2316)cgcaggagc>cgc	p.RS771del	CEP170B_ENST00000453495.1_In_Frame_Del_p.RS772del|CEP170B_ENST00000556508.1_In_Frame_Del_p.RS701del|CEP170B_ENST00000418279.1_In_Frame_Del_p.RS701del	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	771						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GACAGCAGACGCAGGAGCCCCCAGGA	0.694														358	0.0714856	0.0061	0.1196	5008	,	,		13278	0.1091		0.0775	False		,,,				2504	0.0808					uc010axb.2																			0				breast(1)	1						c.(2308-2316)CGCAGGAGC>CGC		hypothetical protein LOC283638 isoform 1			,	62,3458		5,52,1703					,	3.2	0.0		dbSNP_129	9	575,7107		59,457,3325	no	coding,coding	KIAA0284	NM_015005.2,NM_001112726.2	,	64,509,5028	A1A1,A1R,RR		7.485,1.7614,5.6865	,	,		637,10565				SO:0001651	inframe_deletion	283638					cytoplasm|microtubule		g.chr14:105352885_105352890delGCAGGA	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2309_2314delGCAGGA	14.37:g.105352885_105352890delGCAGGA	ENSP00000404151:p.Arg771_Ser772del					INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_In_Frame_Del_p.RS701del|KIAA0284_uc001yps.2_In_Frame_Del_p.RS677del|KIAA0284_uc001ypt.2_5'Flank	p.RS771del	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	12	2533_2538	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	771_772					Q2KHR7|Q86TI7	In_Frame_Del	DEL	ENST00000414716.3	37	c.2309_2314delGCAGGA	CCDS45175.1																																																																																					0.694	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		5	5	5	5	---	---	---	---
