#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
KAZN	23254	broad.mit.edu	37	1	14925537	14925537	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:14925537C>T	ENST00000376030.2	+	1	338	c.44C>T	c.(43-45)gCg>gTg	p.A15V	KAZN_ENST00000422387.2_Missense_Mutation_p.A15V|KAZN_ENST00000503743.1_Missense_Mutation_p.A15V	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	15					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.A15V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ATCGATGGGGCGGTCCAGTCG	0.667																																						uc001avm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)GCG>GTG		kazrin isoform E							34.0	39.0	37.0					1																	14925537		1975	4138	6113	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:14925537C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.44C>T	1.37:g.14925537C>T	ENSP00000365198:p.Ala15Val					KAZ_uc009vog.1_Missense_Mutation_p.A15V|KAZ_uc010obj.1_Missense_Mutation_p.A15V	p.A15V	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			1	325	+			15					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.44C>T	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684700	0.88639	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387	T;T;T	0.50001	0.76;0.76;0.76	3.98	3.03	0.35002	.	0.117893	0.29558	U	0.011806	T	0.48447	0.1500	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.989;0.998	P;P	0.52159	0.554;0.691	T	0.48559	-0.9025	10	0.87932	D	0	-10.5914	10.4264	0.44380	0.1975:0.8025:0.0:0.0	.	15;15	Q674X7-2;Q674X7	.;KAZRN_HUMAN	V	15	ENSP00000365198:A15V;ENSP00000426015:A15V;ENSP00000391728:A15V	ENSP00000365198:A15V	A	+	2	0	KAZN	14798124	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.431000	0.73395	0.603000	0.29913	0.313000	0.20887	GCG		PASS	0.667	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		22	19	22	19	---	---	---	---
PIGV	55650	broad.mit.edu	37	1	27121695	27121695	+	Silent	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:27121695G>T	ENST00000374145.1	+	3	1852	c.1170G>T	c.(1168-1170)ctG>ctT	p.L390L	PIGV_ENST00000078527.4_Silent_p.L390L|PIGV_ENST00000449950.2_Silent_p.L162L	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	390					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.L390L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CAGTGCTGCTGCTGTTTGGAG	0.527																																						uc001bmz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1168-1170)CTG>CTT		phosphatidylinositol glycan class V							152.0	145.0	147.0					1																	27121695		2203	4300	6503	SO:0001819	synonymous_variant	55650				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	g.chr1:27121695G>T	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.1170G>T	1.37:g.27121695G>T						PIGV_uc001bmy.2_Silent_p.L155L|PIGV_uc009vso.2_Silent_p.L390L|PIGV_uc010ofg.1_Silent_p.L155L|PIGV_uc001bna.2_Silent_p.L390L	p.L390L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	3	1501	+		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	390			Helical; (Potential).		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	ENST00000374145.1	37	c.1170G>T	CCDS287.1																																																																																				PASS	0.527	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		20	286	20	286	---	---	---	---
C8B	732	broad.mit.edu	37	1	57395227	57395227	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:57395227G>A	ENST00000371237.4	-	12	1692	c.1626C>T	c.(1624-1626)acC>acT	p.T542T	C8B_ENST00000543257.1_Silent_p.T490T|C8B_ENST00000535057.1_Silent_p.T480T	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	542					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.T542T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATCAATGGGGGTATCTATAA	0.438																																						uc001cyp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1624-1626)ACC>ACT		complement component 8, beta polypeptide							82.0	74.0	77.0					1																	57395227		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57395227G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1626C>T	1.37:g.57395227G>A						C8B_uc010oon.1_Silent_p.T480T|C8B_uc010ooo.1_Silent_p.T490T	p.T542T	NM_000066	NP_000057	P07358	CO8B_HUMAN			12	1693	-			542					A1L4K7	Silent	SNP	ENST00000371237.4	37	c.1626C>T	CCDS30730.1																																																																																				PASS	0.438	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			34	51	34	51	---	---	---	---
ZNF326	284695	broad.mit.edu	37	1	90470764	90470764	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:90470764A>G	ENST00000340281.4	+	4	313	c.170A>G	c.(169-171)tAt>tGt	p.Y57C	ZNF326_ENST00000361911.5_Missense_Mutation_p.Y57C|ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.3_Missense_Mutation_p.Y57C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	57	Gly-rich.|Mediates transcriptional activation. {ECO:0000250}.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.Y57C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AACCAGTCATATGGCATGGAC	0.388																																						uc001dnq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)TAT>TGT		zinc finger protein 326 isoform 1							116.0	120.0	119.0					1																	90470764		2203	4300	6503	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90470764A>G	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.170A>G	1.37:g.90470764A>G	ENSP00000340796:p.Tyr57Cys					ZNF326_uc001dnp.3_Missense_Mutation_p.Y57C|ZNF326_uc009wda.1_Missense_Mutation_p.Y57C|ZNF326_uc001dnr.2_Intron	p.Y57C	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	4	309	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	57			Mediates transcriptional activation (By similarity).|Gly-rich.		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.170A>G	CCDS727.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707075	0.68615	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000361911;ENST00000370447	T;T	0.52526	0.81;0.66	5.5	5.5	0.81552	.	0.173798	0.40144	N	0.001163	T	0.49881	0.1583	L	0.40543	1.245	0.42241	D	0.991933	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.52034	-0.8629	10	0.45353	T	0.12	-10.4976	14.1664	0.65480	1.0:0.0:0.0:0.0	.	57;57	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	C	57	ENSP00000340796:Y57C;ENSP00000359476:Y57C	ENSP00000340796:Y57C	Y	+	2	0	ZNF326	90243352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.046000	0.71029	2.076000	0.62316	0.383000	0.25322	TAT		PASS	0.388	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		79	51	79	51	---	---	---	---
MOV10	4343	broad.mit.edu	37	1	113231671	113231671	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:113231671C>A	ENST00000413052.2	+	3	642	c.252C>A	c.(250-252)gaC>gaA	p.D84E	MOV10_ENST00000369645.1_Missense_Mutation_p.D84E|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.D28E|MOV10_ENST00000357443.2_Missense_Mutation_p.D84E	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	84					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.D84E(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCTGGGCCGACGTGCGGTTCC	0.522																																						uc001eck.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(250-252)GAC>GAA		Mov10, Moloney leukemia virus 10, homolog							87.0	88.0	88.0					1																	113231671		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113231671C>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.252C>A	1.37:g.113231671C>A	ENSP00000399797:p.Asp84Glu					MOV10_uc001ecl.2_Missense_Mutation_p.D84E|MOV10_uc001ecn.2_Missense_Mutation_p.D84E|MOV10_uc001ecm.2_Missense_Mutation_p.D24E|MOV10_uc009wgj.1_Missense_Mutation_p.D24E	p.D84E	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	3	522	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	84					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.252C>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381715	0.24944	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	4.94	-1.68	0.08212	.	0.635730	0.16786	N	0.199597	T	0.57021	0.2025	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.20368	0.001;0.044;0.001	B;B;B	0.26416	0.001;0.069;0.001	T	0.59778	-0.7390	10	0.02654	T	1	-16.0471	9.3203	0.37959	0.0:0.3913:0.0:0.6087	.	28;84;84	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	E	84;84;84;28;84;57	ENSP00000399797:D84E;ENSP00000358659:D84E;ENSP00000358658:D28E;ENSP00000350028:D84E	ENSP00000285733:D84E	D	+	3	2	MOV10	113033194	0.000000	0.05858	0.110000	0.21437	0.973000	0.67179	-0.673000	0.05239	-0.239000	0.09710	-0.258000	0.10820	GAC		PASS	0.522	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		3	83	3	83	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144886121	144886121	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:144886121C>G	ENST00000369354.3	-	23	3302	c.3113G>C	c.(3112-3114)gGa>gCa	p.G1038A	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G1038A|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1104A|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.G1175A|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G1175A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1038					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.G1038A(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAGGAGAATCCTGCTTCCTC	0.542			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3112-3114)GGA>GCA		phosphodiesterase 4D interacting protein isoform							179.0	152.0	161.0					1																	144886121		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886121C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3113G>C	1.37:g.144886121C>G	ENSP00000358360:p.Gly1038Ala					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.G1104A|PDE4DIP_uc001elv.3_Missense_Mutation_p.G45A	p.G1038A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	23	3404	-			1038			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3113G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484301	0.84854	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.03035	4.23;4.07;4.08;4.15;4.12	5.56	5.56	0.83823	.	.	.	.	.	T	0.05044	0.0135	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.55159	-0.8184	9	0.09590	T	0.72	.	17.0325	0.86465	0.0:1.0:0.0:0.0	.	1104;1038	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	A	1104;1038;1038;1175;1175	ENSP00000327209:G1104A;ENSP00000358360:G1038A;ENSP00000358363:G1038A;ENSP00000435654:G1175A;ENSP00000358366:G1175A	ENSP00000327209:G1104A	G	-	2	0	PDE4DIP	143597478	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.701000	0.74624	2.634000	0.89283	0.561000	0.74099	GGA		PASS	0.542	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		23	184	23	184	---	---	---	---
GABPB2	126626	broad.mit.edu	37	1	151060740	151060740	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:151060740G>T	ENST00000368918.3	+	2	406	c.75G>T	c.(73-75)ttG>ttT	p.L25F	GABPB2_ENST00000368916.1_Missense_Mutation_p.L25F|GABPB2_ENST00000368917.1_Missense_Mutation_p.L25F	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	25					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)	p.L25F(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TGAGAACGTTGATGGCAAATG	0.413																																						uc001ewr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)TTG>TTT		GA repeat binding protein, beta 2							102.0	89.0	93.0					1																	151060740		2203	4300	6503	SO:0001583	missense	126626				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	g.chr1:151060740G>T		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.75G>T	1.37:g.151060740G>T	ENSP00000357914:p.Leu25Phe					GABPB2_uc010pcp.1_Missense_Mutation_p.L25F|GABPB2_uc001ews.2_Missense_Mutation_p.L25F	p.L25F	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN		all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)	2	406	+			25			ANK 1.		B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	37	c.75G>T	CCDS983.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758042	0.69648	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.65732	-0.17;-0.17;-0.17	5.41	3.53	0.40419	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.77486	2.375	0.42037	D	0.991057	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.72312	-0.4331	10	0.66056	D	0.02	-9.1469	8.6323	0.33926	0.2356:0.0:0.7644:0.0	.	25;25;25	B4DXA3;B2R924;Q8TAK5	.;.;GABP2_HUMAN	F	25	ENSP00000357914:L25F;ENSP00000357913:L25F;ENSP00000357912:L25F	ENSP00000357912:L25F	L	+	3	2	GABPB2	149327364	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	0.945000	0.29056	0.845000	0.35118	0.650000	0.86243	TTG		PASS	0.413	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		28	28	28	28	---	---	---	---
IVL	3713	broad.mit.edu	37	1	152883951	152883951	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:152883951C>A	ENST00000368764.3	+	2	1742	c.1678C>A	c.(1678-1680)Ccc>Acc	p.P560T	IVL_ENST00000392667.2_Missense_Mutation_p.P414T			P07476	INVO_HUMAN	involucrin	560					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.P560T(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCAGCCCTGCCCACAAAGGG	0.592																																						uc001fau.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1678-1680)CCC>ACC		involucrin							66.0	67.0	67.0					1																	152883951		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883951C>A	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1678C>A	1.37:g.152883951C>A	ENSP00000357753:p.Pro560Thr						p.P560T	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1724	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		560					Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1678C>A	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815338	0.50527	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.28666	1.6;2.25	4.58	1.2	0.21068	.	.	.	.	.	T	0.10723	0.0262	L	0.47716	1.5	0.09310	N	1	B	0.34290	0.447	B	0.32465	0.146	T	0.17198	-1.0377	9	0.56958	D	0.05	.	6.8587	0.24054	0.3235:0.3602:0.3163:0.0	.	560	P07476	INVO_HUMAN	T	560;414	ENSP00000357753:P560T;ENSP00000376435:P414T	ENSP00000357753:P560T	P	+	1	0	IVL	151150575	0.000000	0.05858	0.001000	0.08648	0.262000	0.26303	-0.886000	0.04157	0.559000	0.29153	0.563000	0.77884	CCC		PASS	0.592	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		116	138	116	138	---	---	---	---
ILF2	3608	broad.mit.edu	37	1	153637754	153637754	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:153637754C>T	ENST00000361891.4	-	8	644	c.519G>A	c.(517-519)gtG>gtA	p.V173V	ILF2_ENST00000480213.1_5'Flank	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	173	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)	p.V173V(1)		cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGAATCTTCACTGTAGCAT	0.358																																						uc001fcr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)GTG>GTA		interleukin enhancer binding factor 2							106.0	104.0	104.0					1																	153637754		2203	4300	6503	SO:0001819	synonymous_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153637754C>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.519G>A	1.37:g.153637754C>T						ILF2_uc010pdy.1_Silent_p.V135V|ILF2_uc009wok.2_Silent_p.V151V|ILF2_uc009wol.1_3'UTR	p.V173V	NM_004515	NP_004506	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		8	600	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		173			DZF.		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Silent	SNP	ENST00000361891.4	37	c.519G>A	CCDS1050.1																																																																																				PASS	0.358	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		6	198	6	198	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154317830	154317830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:154317830G>T	ENST00000368489.3	+	23	2602	c.2602G>T	c.(2602-2604)Gaa>Taa	p.E868*		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	854					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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.E868*(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGTGGGCAGGAAGGGATCCA	0.577											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fex.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2602-2604)GAA>TAA		ATPase, class I, type 8B, member 2 isoform a							184.0	171.0	176.0					1																	154317830		2203	4300	6503	SO:0001587	stop_gained	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154317830G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2602G>T	1.37:g.154317830G>T	ENSP00000357475:p.Glu868*		OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762		p.E868*	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		23	2602	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		854			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Nonsense_Mutation	SNP	ENST00000368489.3	37	c.2602G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	40	8.138720	0.98672	.	.	ENSG00000143515	ENST00000368489	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9212	0.88966	0.0:0.0:1.0:0.0	.	.	.	.	X	868	.	ENSP00000357475:E868X	E	+	1	0	ATP8B2	152584454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.797000	0.96272	0.655000	0.94253	GAA		PASS	0.577	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		559	287	559	287	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175092654	175092654	+	Silent	SNP	C	C	T	rs199534795	byFrequency	TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:175092654C>T	ENST00000239462.4	+	12	2882	c.2769C>T	c.(2767-2769)gaC>gaT	p.D923D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	923	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.D923D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTCTGCTGACGGAGAGACCA	0.602													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17461	0.0		0.001	False		,,,				2504	0.0					uc001gkl.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2767-2769)GAC>GAT		tenascin N precursor		C		0,4406		0,0,2203	92.0	78.0	83.0		2769	-5.4	0.2	1		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNN	NM_022093.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		923/1300	175092654	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092654C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2769C>T	1.37:g.175092654C>T							p.D923D	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	2882	+		Breast(1374;0.000962)	923			Fibronectin type-III 8.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2769C>T	CCDS30943.1																																																																																				PASS	0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		34	142	34	142	---	---	---	---
QSOX1	5768	broad.mit.edu	37	1	180135629	180135629	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:180135629G>T	ENST00000367602.3	+	2	343	c.269G>T	c.(268-270)tGg>tTg	p.W90L	QSOX1_ENST00000367600.5_Missense_Mutation_p.W90L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	90	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.W90L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTTTCAGCCTGGAGGCCGGCC	0.597																																						uc001gnz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(268-270)TGG>TTG		quiescin Q6 sulfhydryl oxidase 1 isoform a							72.0	69.0	70.0					1																	180135629		2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180135629G>T	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.269G>T	1.37:g.180135629G>T	ENSP00000356574:p.Trp90Leu					QSOX1_uc001gny.2_Missense_Mutation_p.W90L|QSOX1_uc001goa.2_Missense_Mutation_p.W90L	p.W90L	NM_002826	NP_002817	O00391	QSOX1_HUMAN			2	344	+			90			Thioredoxin.		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.269G>T	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079643	0.55753	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.14516	2.5;2.5	4.83	4.83	0.62350	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.01249	-1.1406	10	0.87932	D	0	-12.8455	13.7733	0.63038	0.0:0.0:1.0:0.0	.	90;90;90	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	L	90	ENSP00000356574:W90L;ENSP00000356572:W90L	ENSP00000356572:W90L	W	+	2	0	QSOX1	178402252	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	6.035000	0.70940	2.393000	0.81446	0.563000	0.77884	TGG		PASS	0.597	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		24	200	24	200	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390726	197390726	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:197390726A>G	ENST00000367400.3	+	6	1903	c.1768A>G	c.(1768-1770)Aaa>Gaa	p.K590E	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.K590E|CRB1_ENST00000544212.1_Missense_Mutation_p.K71E|CRB1_ENST00000367399.2_Missense_Mutation_p.K478E|CRB1_ENST00000535699.1_Missense_Mutation_p.K521E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	590	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K590E(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGTAAGGAGAAATGCATCGC	0.458																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1768-1770)AAA>GAA		crumbs homolog 1 precursor							118.0	113.0	115.0					1																	197390726		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390726A>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1768A>G	1.37:g.197390726A>G	ENSP00000356370:p.Lys590Glu					CRB1_uc010poz.1_Missense_Mutation_p.K521E|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.K478E|CRB1_uc010ppb.1_Missense_Mutation_p.K590E|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.K71E|CRB1_uc001gub.1_Missense_Mutation_p.K239E	p.K590E	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1903	+			590			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1768A>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	2.832	-0.242521	0.05906	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.84	-1.5	0.08691	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.70587	0.3241	M	0.76838	2.35	0.09310	N	1	B;B;B;B;B	0.19331	0.035;0.013;0.027;0.001;0.009	B;B;B;B;B	0.23018	0.043;0.006;0.019;0.003;0.015	T	0.57923	-0.7727	9	0.34782	T	0.22	.	1.1128	0.01707	0.4143:0.2318:0.2208:0.1331	.	590;521;478;239;590	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	E	521;590;590;478;71;239	ENSP00000438786:K521E;ENSP00000438091:K590E;ENSP00000356370:K590E;ENSP00000356369:K478E;ENSP00000444556:K71E	ENSP00000356369:K478E	K	+	1	0	CRB1	195657349	0.036000	0.19791	0.000000	0.03702	0.024000	0.10985	1.297000	0.33400	-0.530000	0.06349	-0.385000	0.06624	AAA		PASS	0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		4	415	4	415	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200567388	200567388	+	Silent	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:200567388C>A	ENST00000367350.4	-	14	2964	c.2526G>T	c.(2524-2526)ggG>ggT	p.G842G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	842	FHA.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.G842G(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CAATCAGCACCCCAGATAACT	0.353																																						uc010ppk.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|skin(2)	7						c.(2524-2526)GGG>GGT		kinesin family member 14							144.0	133.0	137.0					1																	200567388		2203	4300	6503	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200567388C>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2526G>T	1.37:g.200567388C>A						KIF14_uc010ppj.1_Silent_p.G351G	p.G842G	NM_014875	NP_055690	Q15058	KIF14_HUMAN			14	2965	-			842			FHA.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.2526G>T	CCDS30963.1																																																																																				PASS	0.353	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		18	39	18	39	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204429749	204429749	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:204429749G>A	ENST00000367187.3	-	7	1907	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	451	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R451C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCAAACTTGCGGCAGTATTGG	0.562																																						uc001haw.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(1351-1353)CGC>TGC		phosphoinositide-3-kinase, class 2 beta							153.0	120.0	131.0					1																	204429749		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204429749G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1351C>T	1.37:g.204429749G>A	ENSP00000356155:p.Arg451Cys					PIK3C2B_uc010pqv.1_Missense_Mutation_p.R451C|PIK3C2B_uc001hax.1_Missense_Mutation_p.R451C|PIK3C2B_uc009xbd.1_RNA	p.R451C	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		7	1830	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		451					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1351C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524363	0.64747	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61742	0.08;0.11	5.81	5.81	0.92471	Phosphoinositide 3-kinase, ras-binding (2);	0.297810	0.33023	N	0.005363	T	0.67767	0.2928	L	0.43923	1.385	0.48236	D	0.999613	D;D	0.89917	0.998;1.0	P;D	0.87578	0.827;0.998	T	0.66380	-0.5938	10	0.46703	T	0.11	.	12.5393	0.56161	0.0:0.0:0.8338:0.1662	.	451;451	F5GWN5;O00750	.;P3C2B_HUMAN	C	451	ENSP00000356155:R451C;ENSP00000400561:R451C	ENSP00000356155:R451C	R	-	1	0	PIK3C2B	202696372	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.537000	0.45702	2.746000	0.94184	0.655000	0.94253	CGC		PASS	0.562	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		19	107	19	107	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216219911	216219911	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:216219911C>A	ENST00000307340.3	-	32	6573	c.6187G>T	c.(6187-6189)Gta>Tta	p.V2063L	USH2A_ENST00000366943.2_Missense_Mutation_p.V2063L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2063	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2063L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATTTGGCTACTGGTGGCTGA	0.403										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6187-6189)GTA>TTA		usherin isoform B							80.0	76.0	77.0					1																	216219911		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216219911C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6187G>T	1.37:g.216219911C>A	ENSP00000305941:p.Val2063Leu	HNSCC(13;0.011)					p.V2063L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	32	6574	-			2063			Extracellular (Potential).|Fibronectin type-III 7.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6187G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802848	0.31869	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53206	0.63;0.63	5.48	2.46	0.29980	Fibronectin, type III (3);	1.352520	0.05295	N	0.521817	T	0.28830	0.0715	N	0.16790	0.44	0.25910	N	0.983249	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.24483	T	0.36	.	2.5887	0.04837	0.2117:0.4685:0.0:0.3198	.	2063	O75445	USH2A_HUMAN	L	2063	ENSP00000305941:V2063L;ENSP00000355910:V2063L	ENSP00000305941:V2063L	V	-	1	0	USH2A	214286534	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.754000	0.26390	1.455000	0.47813	0.655000	0.94253	GTA		PASS	0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		15	104	15	104	---	---	---	---
BROX	148362	broad.mit.edu	37	1	222904850	222904850	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:222904850G>A	ENST00000340934.5	+	12	1547	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	BROX_ENST00000537020.1_Intron|BROX_ENST00000539697.1_Missense_Mutation_p.D349N	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	381	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.D381N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						AAGACCCAAGGATGACAGTGT	0.353																																						uc001hnq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1141-1143)GAT>AAT		Bro1-domain-containing protein							102.0	101.0	101.0					1																	222904850		2203	4300	6503	SO:0001583	missense	148362					membrane		g.chr1:222904850G>A		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.1141G>A	1.37:g.222904850G>A	ENSP00000343742:p.Asp381Asn					C1orf58_uc010put.1_Missense_Mutation_p.D349N|C1orf58_uc010puu.1_Intron|C1orf58_uc010puv.1_Missense_Mutation_p.D349N|uc001hnr.1_Intron|uc001hns.1_5'Flank	p.D381N	NM_144695	NP_653296	Q5VW32	BROX_HUMAN		GBM - Glioblastoma multiforme(131;0.0667)	12	1536	+			381			BRO1.		B7Z9G5|Q96MG1	Missense_Mutation	SNP	ENST00000340934.5	37	c.1141G>A	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.026954	0.35797	.	.	ENSG00000162819	ENST00000340934;ENST00000539697	.	.	.	5.58	4.67	0.58626	BRO1 domain (1);	0.091286	0.85682	D	0.000000	T	0.41465	0.1160	N	0.20685	0.6	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.21759	-1.0236	9	0.17832	T	0.49	-6.1278	14.5442	0.68017	0.0703:0.0:0.9297:0.0	.	349;381	B7Z9G5;Q5VW32	.;BROX_HUMAN	N	381;349	.	ENSP00000343742:D381N	D	+	1	0	BROX	220971473	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.974000	0.76122	1.503000	0.48686	0.561000	0.74099	GAT		PASS	0.353	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695		37	147	37	147	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947189	237947189	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:237947189G>A	ENST00000366574.2	+	90	12494	c.12177G>A	c.(12175-12177)acG>acA	p.T4059T	RYR2_ENST00000542537.1_Silent_p.T4043T|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.T4065T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4059					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.T4057T(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)			AGCACTACACGCAGTCAGAAA	0.483																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12175-12177)ACG>ACA		cardiac muscle ryanodine receptor							39.0	39.0	39.0					1																	237947189		1987	4159	6146	SO:0001819	synonymous_variant	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.chr1:237947189G>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.12177G>A	1.37:g.237947189G>A						RYR2_uc010pya.1_Silent_p.T474T	p.T4059T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12297	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4059					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12177G>A	CCDS55691.1																																																																																				PASS	0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	43	9	43	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343413	248343413	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr1:248343413C>A	ENST00000359682.2	+	1	126	c.126C>A	c.(124-126)aaC>aaA	p.N42K		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N42K(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)			TCATGGGAAACTCTGTCATGG	0.522																																						uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(124-126)AAC>AAA		olfactory receptor, family 2, subfamily M,							297.0	283.0	287.0					1																	248343413		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343413C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.126C>A	1.37:g.248343413C>A	ENSP00000352710:p.Asn42Lys						p.N42K	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	126	+	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)		42			Helical; Name=1; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.126C>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	11.98	1.801494	0.31869	.	.	ENSG00000198601	ENST00000359682	T	0.75704	-0.96	2.03	-0.0908	0.13663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32852	U	0.005575	D	0.88145	0.6358	H	0.97758	4.07	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78295	-0.2259	10	0.87932	D	0	.	6.3626	0.21437	0.0:0.465:0.0:0.535	.	42	Q96R28	OR2M2_HUMAN	K	42	ENSP00000352710:N42K	ENSP00000352710:N42K	N	+	3	2	OR2M2	246410036	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.943000	0.03917	-0.160000	0.11002	0.454000	0.30748	AAC		PASS	0.522	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		12	829	12	829	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1653368	1653368	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:1653368G>A	ENST00000252804.4	-	17	2234	c.2184C>T	c.(2182-2184)cgC>cgT	p.R728R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	728					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R728R(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGTTGTTCACGCGCCGGTGGG	0.602																																						uc002qxa.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2182-2184)CGC>CGT		peroxidasin precursor							86.0	92.0	90.0					2																	1653368		2087	4206	6293	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653368G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2184C>T	2.37:g.1653368G>A							p.R728R	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2248	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	728					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2184C>T	CCDS46221.1																																																																																				PASS	0.602	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		10	236	10	236	---	---	---	---
MFSD2B	388931	broad.mit.edu	37	2	24245357	24245357	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:24245357C>T	ENST00000406420.3	+	9	965	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	MFSD2B_ENST00000338315.4_Missense_Mutation_p.H317Y	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	317					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.H317Y(2)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCTACACGACCACGTCCAGGG	0.607																																						uc002reo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(949-951)CAC>TAC		major facilitator superfamily domain containing							51.0	50.0	50.0					2																	24245357		2074	4212	6286	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24245357C>T		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.949C>T	2.37:g.24245357C>T	ENSP00000385527:p.His317Tyr						p.H317Y	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			9	963	+			317					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.949C>T	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	N	15.51	2.854797	0.51376	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.86956	-2.19;-2.19	4.65	3.77	0.43336	Major facilitator superfamily domain, general substrate transporter (1);	0.091594	0.85682	N	0.000000	T	0.81221	0.4777	L	0.52266	1.64	0.41888	D	0.990351	P	0.37548	0.599	B	0.37943	0.261	T	0.75926	-0.3145	10	0.11182	T	0.66	-23.426	10.5999	0.45360	0.0:0.9059:0.0:0.0941	.	317	A6NFX1	MFS2B_HUMAN	Y	317	ENSP00000385527:H317Y;ENSP00000342501:H317Y	ENSP00000342501:H317Y	H	+	1	0	MFSD2B	24098861	0.581000	0.26741	0.011000	0.14972	0.803000	0.45373	2.429000	0.44758	1.329000	0.45376	0.561000	0.74099	CAC		PASS	0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		23	39	23	39	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26739434	26739434	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:26739434T>G	ENST00000272371.2	-	5	487	c.361A>C	c.(361-363)Act>Cct	p.T121P	OTOF_ENST00000403946.3_Missense_Mutation_p.T121P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	121					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.T121P(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCCGTCAGTGGCCTGATAC	0.607																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(361-363)ACT>CCT		otoferlin isoform a							65.0	62.0	63.0					2																	26739434		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26739434T>G	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.361A>C	2.37:g.26739434T>G	ENSP00000272371:p.Thr121Pro					OTOF_uc010ylb.1_RNA	p.T121P	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			5	488	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		121			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.361A>C	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.928760	0.00493	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.69561	-0.41;-0.41	4.84	-1.78	0.07957	C2 calcium/lipid-binding domain, CaLB (1);	0.550775	0.19301	N	0.117658	T	0.28632	0.0709	N	0.01576	-0.805	0.09310	N	1	B	0.14438	0.01	B	0.15870	0.014	T	0.38929	-0.9638	10	0.02654	T	1	1.4335	9.7902	0.40702	0.0:0.4634:0.0:0.5366	.	121	Q9HC10	OTOF_HUMAN	P	121	ENSP00000272371:T121P;ENSP00000385255:T121P	ENSP00000272371:T121P	T	-	1	0	OTOF	26592938	0.027000	0.19231	0.039000	0.18376	0.209000	0.24338	-0.176000	0.09811	-0.198000	0.10333	0.533000	0.62120	ACT		PASS	0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			113	169	113	169	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31588405	31588405	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:31588405C>A	ENST00000379416.3	-	23	2510	c.2462G>T	c.(2461-2463)gGc>gTc	p.G821V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	821					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.G821V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CACAGGGCGGCCGGTCCTGGG	0.547																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2461-2463)GGC>GTC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						97.0	87.0	90.0					2																	31588405		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31588405C>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2462G>T	2.37:g.31588405C>A	ENSP00000368727:p.Gly821Val						p.G821V	NM_000379	NP_000370	P47989	XDH_HUMAN			23	2541	-	Acute lymphoblastic leukemia(172;0.155)		821					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2462G>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433838	0.62955	.	.	ENSG00000158125	ENST00000379416	T	0.56444	0.46	6.17	6.17	0.99709	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.189558	0.56097	D	0.000021	T	0.79661	0.4484	M	0.92026	3.265	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.82131	-0.0609	10	0.72032	D	0.01	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	821	P47989	XDH_HUMAN	V	821	ENSP00000368727:G821V	ENSP00000368727:G821V	G	-	2	0	XDH	31441909	0.997000	0.39634	0.900000	0.35374	0.124000	0.20399	4.206000	0.58473	2.941000	0.99782	0.655000	0.94253	GGC		PASS	0.547	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		92	154	92	154	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49190321	49190321	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:49190321C>A	ENST00000406846.2	-	10	1758	c.1639G>T	c.(1639-1641)Ggc>Tgc	p.G547C	FSHR_ENST00000346173.3_Missense_Mutation_p.G485C|FSHR_ENST00000304421.4_Missense_Mutation_p.G521C|FSHR_ENST00000541117.1_Missense_Mutation_p.G283C	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	547					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.G547C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ATATAGCAGCCACAGATGACC	0.537									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1639-1641)GGC>TGC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						132.0	105.0	114.0					2																	49190321		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190321C>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1639G>T	2.37:g.49190321C>A	ENSP00000384708:p.Gly547Cys					FSHR_uc002rwx.2_Missense_Mutation_p.G485C|FSHR_uc010fbn.2_Missense_Mutation_p.G521C	p.G547C	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1713	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	547			Helical; Name=5; (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1639G>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291653	0.23564	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.35	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.546663	0.20702	N	0.087252	T	0.29458	0.0734	L	0.57536	1.79	0.29783	N	0.833845	B;B;B	0.17268	0.012;0.021;0.012	B;B;B	0.24848	0.056;0.045;0.056	T	0.17379	-1.0371	9	.	.	.	.	4.6628	0.12650	0.1459:0.5068:0.0:0.3473	.	521;485;547	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	C	547;485;521;283	ENSP00000384708:G547C;ENSP00000333908:G485C;ENSP00000306780:G521C;ENSP00000444172:G283C	.	G	-	1	0	FSHR	49043825	0.583000	0.26757	1.000000	0.80357	0.969000	0.65631	0.656000	0.24948	0.488000	0.27723	0.655000	0.94253	GGC		PASS	0.537	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			32	57	32	57	---	---	---	---
GKN2	200504	broad.mit.edu	37	2	69173523	69173523	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:69173523C>A	ENST00000328895.4	-	5	493	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	GKN2_ENST00000481498.1_Missense_Mutation_p.D129Y	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	129	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)		p.D129Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CAATCCACGTCTTTGATCAGA	0.443																																						uc002sfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)GAC>TAC		trefoil factor interactions(z) 1 precursor							200.0	188.0	192.0					2																	69173523		2203	4300	6503	SO:0001583	missense	200504					extracellular region		g.chr2:69173523C>A	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.385G>T	2.37:g.69173523C>A	ENSP00000329292:p.Asp129Tyr					GKN2_uc002sfb.3_Missense_Mutation_p.D129Y	p.D129Y	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN			5	494	-			129			BRICHOS.		Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	c.385G>T	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858454	0.17178	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.78707	-1.2;-1.2	4.73	-3.66	0.04489	BRICHOS (2);	1.018850	0.07828	N	0.960866	T	0.67720	0.2923	L	0.36672	1.1	0.09310	N	1	P;P	0.45634	0.863;0.863	B;P	0.44597	0.254;0.454	T	0.61133	-0.7124	10	0.62326	D	0.03	-22.8235	6.3185	0.21204	0.0:0.1957:0.4844:0.3199	.	129;129	E5RHQ8;Q86XP6	.;GKN2_HUMAN	Y	129	ENSP00000329292:D129Y;ENSP00000428538:D129Y	ENSP00000329292:D129Y	D	-	1	0	GKN2	69027027	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.312000	0.02720	-1.097000	0.03042	0.555000	0.69702	GAC		PASS	0.443	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		8	376	8	376	---	---	---	---
IGKV1D-17	28900	broad.mit.edu	37	2	90121855	90121855	+	RNA	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:90121855C>T	ENST00000483379.1	+	0	254									immunoglobulin kappa variable 1D-17																		ATGTAACATCCAGATGACCCA	0.438																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							195.0	162.0	173.0					2																	90121855		1947	4140	6087			0							g.chr2:90121855C>T	X63392		2p11.2	2012-02-08			ENSG00000242766	ENSG00000242766		"""Immunoglobulins / IGK locus"""	5749	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151610		2.37:g.90121855C>T														16		+									RNA	SNP	ENST00000483379.1	37	c.1724C>T																																																																																					PASS	0.438	IGKV1D-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323282.1	NG_000833		133	339	133	339	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98797501	98797501	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:98797501G>T	ENST00000477737.1	+	9	1341	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	VWA3B_ENST00000435344.1_Missense_Mutation_p.E379D|VWA3B_ENST00000451075.2_Missense_Mutation_p.E229D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	379								p.E379D(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTCTGTTGAGATTGCATCGA	0.448																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(1135-1137)GAG>GAT		von Willebrand factor A domain containing 3B							80.0	82.0	81.0					2																	98797501		1948	4158	6106	SO:0001583	missense	200403							g.chr2:98797501G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1137G>T	2.37:g.98797501G>T	ENSP00000417955:p.Glu379Asp					VWA3B_uc010yvh.1_Missense_Mutation_p.E229D|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.E379D|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.E36D	p.E379D	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			9	1401	+			379					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1137G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437271	0.25900	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.24350	1.86;3.32;2.41	4.89	-0.348	0.12613	.	1.038480	0.07601	N	0.923607	T	0.15176	0.0366	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26708	0.004;0.097;0.157	B;B;B	0.24155	0.002;0.023;0.051	T	0.32161	-0.9917	10	0.25751	T	0.34	.	3.3192	0.07044	0.4311:0.0:0.3848:0.1842	.	229;379;379	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	D	379;379;229	ENSP00000401959:E379D;ENSP00000417955:E379D;ENSP00000389463:E229D	ENSP00000388158:E379D	E	+	3	2	VWA3B	98163933	0.001000	0.12720	0.000000	0.03702	0.041000	0.13682	0.547000	0.23299	0.014000	0.14944	0.591000	0.81541	GAG		PASS	0.448	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		39	96	39	96	---	---	---	---
TBC1D8	11138	broad.mit.edu	37	2	101656738	101656738	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:101656738G>A	ENST00000376840.4	-	6	936	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	TBC1D8_ENST00000409318.1_Missense_Mutation_p.R328C			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	313	GRAM 2.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.R313C(1)|p.R328C(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTGTGACAGCGACTGAACGGC	0.567																																						uc010fiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(937-939)CGC>TGC		TBC1 domain family, member 8							60.0	64.0	63.0					2																	101656738		2040	4185	6225	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101656738G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.937C>T	2.37:g.101656738G>A	ENSP00000366036:p.Arg313Cys					TBC1D8_uc010yvw.1_Missense_Mutation_p.R328C|TBC1D8_uc002tau.3_Missense_Mutation_p.R70C	p.R313C	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			6	1068	-			313			GRAM 2.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.937C>T	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267127	0.80469	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	D;D	0.87412	-2.25;-2.25	5.86	5.86	0.93980	GRAM (2);	0.074846	0.56097	D	0.000024	D	0.93019	0.7778	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.92952	0.6381	10	0.87932	D	0	-38.1663	20.1865	0.98220	0.0:0.0:1.0:0.0	.	328;313	B7Z6L4;O95759	.;TBCD8_HUMAN	C	313;328	ENSP00000366036:R313C;ENSP00000386856:R328C	ENSP00000366036:R313C	R	-	1	0	TBC1D8	101023170	1.000000	0.71417	0.993000	0.49108	0.451000	0.32288	5.474000	0.66781	2.775000	0.95449	0.655000	0.94253	CGC		PASS	0.567	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		35	169	35	169	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103148906	103148906	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:103148906G>A	ENST00000295269.4	+	12	2613	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	719					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.G719E(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTACACAGAGGAAGGAAGGCA	0.478																																						uc002tbz.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(2155-2157)GGA>GAA		solute carrier family 9 (sodium/hydrogen							91.0	82.0	85.0					2																	103148906		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103148906G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2156G>A	2.37:g.103148906G>A	ENSP00000295269:p.Gly719Glu						p.G719E	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			12	2613	+			719			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2156G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858696	0.32791	.	.	ENSG00000180251	ENST00000295269	T	0.50001	0.76	4.9	1.99	0.26369	.	0.694145	0.14178	N	0.336206	T	0.29588	0.0738	L	0.32530	0.975	0.09310	N	1	B	0.30793	0.295	B	0.31686	0.134	T	0.26503	-1.0101	10	0.02654	T	1	.	7.942	0.29963	0.085:0.3066:0.6084:0.0	.	719	Q6AI14	SL9A4_HUMAN	E	719	ENSP00000295269:G719E	ENSP00000295269:G719E	G	+	2	0	SLC9A4	102515338	0.986000	0.35501	0.015000	0.15790	0.027000	0.11550	1.839000	0.39220	0.183000	0.20059	-0.136000	0.14681	GGA		PASS	0.478	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		6	165	6	165	---	---	---	---
IL1A	3552	broad.mit.edu	37	2	113532838	113532838	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:113532838G>A	ENST00000263339.3	-	7	777	c.622C>T	c.(622-624)Cct>Tct	p.P208S		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	208					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)	p.P208S(1)		breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	GGTATCTCAGGCATCTCCTAT	0.428																																						uc002tig.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(622-624)CCT>TCT		interleukin 1, alpha proprotein							121.0	119.0	120.0					2																	113532838		2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113532838G>A	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.622C>T	2.37:g.113532838G>A	ENSP00000263339:p.Pro208Ser						p.P208S	NM_000575	NP_000566	P01583	IL1A_HUMAN			7	1582	-			208					Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.622C>T	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100368	0.37048	.	.	ENSG00000115008	ENST00000263339	T	0.20881	2.04	5.25	4.37	0.52481	.	0.222941	0.32301	N	0.006294	T	0.18800	0.0451	L	0.43646	1.37	0.39505	D	0.968267	P	0.44659	0.84	B	0.41374	0.355	T	0.03268	-1.1054	10	0.46703	T	0.11	-3.3844	9.7838	0.40664	0.0926:0.0:0.9074:0.0	.	208	P01583	IL1A_HUMAN	S	208	ENSP00000263339:P208S	ENSP00000263339:P208S	P	-	1	0	IL1A	113249309	0.986000	0.35501	0.999000	0.59377	0.044000	0.14063	1.890000	0.39728	1.584000	0.49913	0.655000	0.94253	CCT		PASS	0.428	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		6	148	6	148	---	---	---	---
RALB	5899	broad.mit.edu	37	2	121036296	121036296	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:121036296T>C	ENST00000272519.5	+	2	326	c.56T>C	c.(55-57)aTg>aCg	p.M19T	RALB_ENST00000470417.1_Intron|RALB_ENST00000420510.1_Missense_Mutation_p.M19T|RALB_ENST00000474855.2_Missense_Mutation_p.M41T|RALB_ENST00000404963.3_Missense_Mutation_p.M19T	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	19					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.M19T(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AAGGTGATCATGGTTGGCAGC	0.567																																						uc002tmk.2																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(55-57)ATG>ACG		v-ral simian leukemia viral oncogene homolog B							103.0	81.0	88.0					2																	121036296		2203	4300	6503	SO:0001583	missense	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121036296T>C		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.56T>C	2.37:g.121036296T>C	ENSP00000272519:p.Met19Thr					RALB_uc010yys.1_Missense_Mutation_p.M41T|RALB_uc002tml.2_Missense_Mutation_p.M19T|RALB_uc002tmm.2_Intron|RALB_uc010yyt.1_RNA	p.M19T	NM_002881	NP_002872	P11234	RALB_HUMAN			2	246	+		Prostate(154;0.122)	19					B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	c.56T>C	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	t	17.47	3.397407	0.62177	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383;ENST00000449649	T;T;T;T;T;T;T	0.80123	-0.46;-1.34;-1.34;-1.34;-1.34;-1.34;-0.46	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88066	0.6337	L	0.41079	1.255	0.80722	D	1	B;B;B	0.29936	0.262;0.027;0.111	P;B;P	0.60949	0.881;0.033;0.881	D	0.87769	0.2604	10	0.87932	D	0	.	16.2812	0.82687	0.0:0.0:0.0:1.0	.	41;19;19	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	T	41;41;19;19;19;19;19	ENSP00000402866:M41T;ENSP00000438764:M41T;ENSP00000272519:M19T;ENSP00000414224:M19T;ENSP00000384328:M19T;ENSP00000398162:M19T;ENSP00000407062:M19T	ENSP00000272519:M19T	M	+	2	0	RALB	120752766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.844000	0.86867	2.252000	0.74401	0.478000	0.44815	ATG		PASS	0.567	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		35	76	35	76	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136562337	136562337	+	Splice_Site	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:136562337C>T	ENST00000264162.2	-	10	4474	c.4464G>A	c.(4462-4464)caG>caA	p.Q1488Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1488	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.Q1488Q(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCCACCATACCTGGGGCTGGA	0.542																																						uc002tuu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(4462-4464)CAG>CAA		lactase-phlorizin hydrolase preproprotein							45.0	49.0	47.0					2																	136562337		2203	4300	6503	SO:0001630	splice_region_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136562337C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4464+1G>A	2.37:g.136562337C>T							p.Q1488Q	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	10	4475	-			1488			Extracellular (Potential).|4.|4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.4464G>A	CCDS2178.1																																																																																				PASS	0.542	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	Silent	43	60	43	60	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162751189	162751189	+	Splice_Site	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:162751189G>T	ENST00000446997.1	+	11	1288	c.1195G>T	c.(1195-1197)Gta>Tta	p.V399L	SLC4A10_ENST00000415876.2_Splice_Site_p.V369L|SLC4A10_ENST00000272716.5_Splice_Site_p.V369L|SLC4A10_ENST00000535165.1_Splice_Site_p.R369S|SLC4A10_ENST00000375514.5_Splice_Site_p.V380L|SLC4A10_ENST00000421911.1_Splice_Site_p.V399L|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	399					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.V369L(1)|p.V399L(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)	TCTTCTAAAGGTATTTCATGA	0.303																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1195-1197)GTA>TTA		solute carrier family 4, sodium bicarbonate							65.0	58.0	60.0					2																	162751189		1790	4067	5857	SO:0001630	splice_region_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162751189G>T		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.1195-1G>T	2.37:g.162751189G>T						SLC4A10_uc010fpa.1_Missense_Mutation_p.V411L|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.V369L|SLC4A10_uc010zcs.1_Missense_Mutation_p.V380L	p.V399L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			11	1379	+			399			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1195G>T	CCDS54411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.66|14.66	2.601476|2.601476	0.46423|0.46423	.|.	.|.	ENSG00000144290|ENSG00000144290	ENST00000535165|ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T|T;T;T;T;T	0.77750|0.68903	-1.12|-0.36;-0.36;-0.36;-0.36;-0.36	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	.|0.061138	.|0.64402	.|D	.|0.000002	T|T	0.65749|0.65749	0.2721|0.2721	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.31413	.|0.322;0.049;0.322;0.09	.|B;B;B;B	.|0.33690	.|0.168;0.142;0.168;0.138	T|T	0.61652|0.61652	-0.7019|-0.7019	6|9	.|.	.|.	.|.	.|.	19.6166|19.6166	0.95636|0.95636	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|380;399;369;399	.|F8W675;E7EW28;Q6U841-2;Q6U841	.|.;.;.;S4A10_HUMAN	S|L	369|380;369;369;368;399;399;398	ENSP00000437527:R369S|ENSP00000364664:V380L;ENSP00000395797:V369L;ENSP00000272716:V369L;ENSP00000393066:V399L;ENSP00000404486:V399L	.|.	R|V	+|+	3|1	2|0	SLC4A10|SLC4A10	162459435|162459435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	6.761000|6.761000	0.74945|0.74945	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	AGG|GTA		PASS	0.303	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	Missense_Mutation	5	7	5	7	---	---	---	---
SP3	6670	broad.mit.edu	37	2	174820742	174820742	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:174820742G>A	ENST00000310015.6	-	4	1028	c.498C>T	c.(496-498)tcC>tcT	p.S166S	SP3_ENST00000455789.2_Silent_p.S113S|SP3_ENST00000418194.2_Silent_p.S98S|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	166	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.S166S(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ATTGAACACTGGACACTGTAC	0.418																																						uc002uig.2																		EWSR1/SP3(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(496-498)TCC>TCT		Sp3 transcription factor isoform 1							236.0	225.0	229.0					2																	174820742		2203	4300	6503	SO:0001819	synonymous_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820742G>A	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.498C>T	2.37:g.174820742G>A						SP3_uc002uie.2_Silent_p.S98S|SP3_uc002uif.2_Silent_p.S113S|SP3_uc010zel.1_Silent_p.S163S	p.S166S	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	662	-			166			Transactivation domain (Gln-rich).		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	c.498C>T	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	G	3.643	-0.073115	0.07228	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.95	4.16	0.48862	.	.	.	.	.	T	0.61874	0.2382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58346	-0.7652	4	.	.	.	.	10.6235	0.45493	0.2205:0.0:0.7795:0.0	.	.	.	.	L	123	.	.	P	-	2	0	SP3	174528988	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.183000	0.50918	0.862000	0.35528	0.563000	0.77884	CCA		PASS	0.418	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		314	261	314	261	---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180815589	180815589	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:180815589T>C	ENST00000410053.3	-	18	2181	c.1882A>G	c.(1882-1884)Atc>Gtc	p.I628V	CWC22_ENST00000295749.6_Missense_Mutation_p.I628V	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	628					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.I628V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AAGAAGTTGATGGCAAACCGA	0.313																																						uc010frh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1882-1884)ATC>GTC		CWC22 spliceosome-associated protein homolog							53.0	52.0	53.0					2																	180815589		1805	4077	5882	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180815589T>C		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1882A>G	2.37:g.180815589T>C	ENSP00000387006:p.Ile628Val					CWC22_uc002uno.2_Missense_Mutation_p.I150V|CWC22_uc002unp.2_Missense_Mutation_p.I628V	p.I628V	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			18	2182	-			628					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.1882A>G	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711244	0.89112	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.34667	1.53;1.53;1.35	6.02	6.02	0.97574	.	0.042780	0.85682	D	0.000000	T	0.63177	0.2489	M	0.84082	2.675	0.80722	D	1	D	0.63046	0.992	D	0.66716	0.946	T	0.68526	-0.5385	10	0.87932	D	0	-6.4703	15.7232	0.77732	0.0:0.0:0.0:1.0	.	628	Q9HCG8	CWC22_HUMAN	V	628	ENSP00000387006:I628V;ENSP00000295749:I628V;ENSP00000384159:I628V	ENSP00000295749:I628V	I	-	1	0	CWC22	180523834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.304000	0.77564	0.528000	0.53228	ATC		PASS	0.313	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		5	4	5	4	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187694599	187694599	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:187694599T>C	ENST00000295131.2	-	8	989	c.950A>G	c.(949-951)tAc>tGc	p.Y317C		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	317					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y317C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTTGGTGTGTAAACTTGGCT	0.373																																						uc002upu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(949-951)TAC>TGC		zinc finger, SWIM domain containing 2							194.0	183.0	187.0					2																	187694599		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187694599T>C	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.950A>G	2.37:g.187694599T>C	ENSP00000295131:p.Tyr317Cys						p.Y317C	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	990	-			317					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.950A>G	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	T	6.298	0.423088	0.11928	.	.	ENSG00000163012	ENST00000295131	T	0.22539	1.95	5.74	-1.19	0.09585	.	0.821655	0.10793	N	0.633476	T	0.11452	0.0279	N	0.24115	0.695	0.21527	N	0.999652	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.38643	T	0.18	-0.0052	4.7256	0.12939	0.1737:0.4603:0.0:0.366	.	317	Q8NEG5	ZSWM2_HUMAN	C	317	ENSP00000295131:Y317C	ENSP00000295131:Y317C	Y	-	2	0	ZSWIM2	187402844	0.097000	0.21791	0.086000	0.20670	0.377000	0.30045	-0.145000	0.10265	-0.047000	0.13423	0.460000	0.39030	TAC		PASS	0.373	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		84	76	84	76	---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209028060	209028060	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:209028060G>T	ENST00000304502.4	-	2	139	c.120C>A	c.(118-120)agC>agA	p.S40R		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	40	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.S40S(1)|p.S40R(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TCCAGCAGCCGCTGTCTACTC	0.592																																						uc002vcq.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)		0						c.(118-120)AGC>AGA		crystallin, gamma A							45.0	51.0	49.0					2																	209028060		2203	4300	6503	SO:0001583	missense	1418				visual perception		structural constituent of eye lens	g.chr2:209028060G>T		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.120C>A	2.37:g.209028060G>T	ENSP00000302105:p.Ser40Arg						p.S40R	NM_014617	NP_055432	P11844	CRGA_HUMAN		Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	2	137	-			40			Beta/gamma crystallin 'Greek key' 1.		Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	c.120C>A	CCDS33367.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125908	0.56721	.	.	ENSG00000168582	ENST00000304502	T	0.75704	-0.96	4.64	-0.225	0.13111	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.083271	0.85682	D	0.000000	D	0.82632	0.5079	M	0.84326	2.69	0.44337	D	0.997228	D	0.76494	0.999	D	0.68765	0.96	T	0.80607	-0.1307	10	0.72032	D	0.01	.	7.7997	0.29168	0.5756:0.0:0.4244:0.0	.	40	P11844	CRGA_HUMAN	R	40	ENSP00000302105:S40R	ENSP00000302105:S40R	S	-	3	2	CRYGA	208736305	0.020000	0.18652	0.998000	0.56505	0.936000	0.57629	-0.793000	0.04589	0.028000	0.15324	-0.137000	0.14449	AGC		PASS	0.592	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		9	81	9	81	---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209103872	209103872	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:209103872C>A	ENST00000415913.1	-	9	1458	c.1077G>T	c.(1075-1077)ttG>ttT	p.L359F	IDH1_ENST00000446179.1_Missense_Mutation_p.L359F|IDH1_ENST00000345146.2_Missense_Mutation_p.L359F	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	359					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L359F(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		AGACTTCTTCCAAAGCATTTG	0.428			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		1	Substitution - Missense(1)		lung(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(1075-1077)TTG>TTT		isocitrate dehydrogenase 1 (NADP+), soluble							88.0	83.0	85.0					2																	209103872		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209103872C>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.1077G>T	2.37:g.209103872C>A	ENSP00000390265:p.Leu359Phe					IDH1_uc002vct.2_Missense_Mutation_p.L359F|IDH1_uc002vcu.2_Missense_Mutation_p.L359F	p.L359F	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	9	1323	-			359					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.1077G>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332105	0.81801	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.81163	-1.46;-1.46;-1.46	5.53	5.53	0.82687	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95458	0.8540	10	0.87932	D	0	-5.3904	13.0916	0.59169	0.0:0.9266:0.0:0.0734	.	359	O75874	IDHC_HUMAN	F	359	ENSP00000260985:L359F;ENSP00000410513:L359F;ENSP00000390265:L359F	ENSP00000260985:L359F	L	-	3	2	IDH1	208812117	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.681000	0.37618	2.775000	0.95449	0.585000	0.79938	TTG		PASS	0.428	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			4	113	4	113	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216288136	216288136	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:216288136T>A	ENST00000359671.1	-	9	1595	c.1330A>T	c.(1330-1332)Aag>Tag	p.K444*	FN1_ENST00000336916.4_Nonsense_Mutation_p.K444*|FN1_ENST00000432072.2_Nonsense_Mutation_p.K444*|FN1_ENST00000354785.4_Nonsense_Mutation_p.K444*|FN1_ENST00000443816.1_Nonsense_Mutation_p.K444*|FN1_ENST00000357867.4_Nonsense_Mutation_p.K444*|FN1_ENST00000345488.5_Nonsense_Mutation_p.K444*|FN1_ENST00000357009.2_Nonsense_Mutation_p.K444*|FN1_ENST00000426059.1_Nonsense_Mutation_p.K444*|FN1_ENST00000346544.3_Nonsense_Mutation_p.K444*|FN1_ENST00000421182.1_Nonsense_Mutation_p.K444*|FN1_ENST00000446046.1_Nonsense_Mutation_p.K444*|FN1_ENST00000356005.4_Nonsense_Mutation_p.K444*|FN1_ENST00000323926.6_Nonsense_Mutation_p.K444*			P02751	FINC_HUMAN	fibronectin 1	444	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				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.K444*(2)	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)	CCACACCACTTCATGTTGTCT	0.488																																						uc002vfa.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1330-1332)AAG>TAG		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						147.0	128.0	134.0					2																	216288136		2203	4300	6503	SO:0001587	stop_gained	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.chr2:216288136T>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.1330A>T	2.37:g.216288136T>A	ENSP00000352696:p.Lys444*					FN1_uc002vfb.2_Nonsense_Mutation_p.K444*|FN1_uc002vfc.2_Nonsense_Mutation_p.K444*|FN1_uc002vfd.2_Nonsense_Mutation_p.K444*|FN1_uc002vfe.2_Nonsense_Mutation_p.K444*|FN1_uc002vff.2_Nonsense_Mutation_p.K444*|FN1_uc002vfg.2_Nonsense_Mutation_p.K444*|FN1_uc002vfh.2_Nonsense_Mutation_p.K444*|FN1_uc002vfi.2_Nonsense_Mutation_p.K444*|FN1_uc002vfj.2_Nonsense_Mutation_p.K444*|FN1_uc002vfl.2_Nonsense_Mutation_p.K444*	p.K444*	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)	9	1596	-		Renal(323;0.127)	444			Fibronectin type-II 2.|Collagen-binding.		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	Nonsense_Mutation	SNP	ENST00000359671.1	37	c.1330A>T		.	.	.	.	.	.	.	.	.	.	T	42	9.488333	0.99184	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	.	.	.	5.91	5.91	0.95273	.	0.158958	0.42172	D	0.000749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	.	.	.	X	444	.	ENSP00000265313:K444X	K	-	1	0	FN1	215996381	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.967000	0.87967	2.261000	0.74972	0.533000	0.62120	AAG		PASS	0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		80	79	80	79	---	---	---	---
STK16	8576	broad.mit.edu	37	2	220111955	220111955	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:220111955G>T	ENST00000409638.3	+	4	599	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C	STK16_ENST00000409260.1_Missense_Mutation_p.G188C|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000396738.2_Missense_Mutation_p.G143C|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000409743.1_Missense_Mutation_p.G143C|STK16_ENST00000409516.3_Intron|GLB1L_ENST00000356283.3_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G143C(1)		skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATGCCAAGGGTTATGCCCA	0.562																																					Pancreas(34;887 922 17165 36961 39622)	uc002vko.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(427-429)GGT>TGT		serine/threonine kinase 16							66.0	67.0	67.0					2																	220111955		1919	4133	6052	SO:0001583	missense	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220111955G>T	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.427G>T	2.37:g.220111955G>T	ENSP00000386928:p.Gly143Cys					GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Missense_Mutation_p.G143C|STK16_uc010fwf.2_Missense_Mutation_p.G143C|STK16_uc002vkp.2_Missense_Mutation_p.G143C|STK16_uc002vkr.2_Missense_Mutation_p.G76C|STK16_uc002vkq.2_Missense_Mutation_p.G188C	p.G143C	NM_001008910	NP_001008910	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	584	+		Renal(207;0.0474)	143			Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	c.427G>T	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328627	0.81690	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	T;T;T;T	0.79247	1.64;1.64;-1.25;1.64	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88194	0.6371	M	0.73372	2.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.98;0.991	D	0.88223	0.2898	10	0.62326	D	0.03	-8.5267	19.8194	0.96586	0.0:0.0:1.0:0.0	.	143;143;188;143	B4DXY6;B8ZZI5;B8ZZN3;O75716	.;.;.;STK16_HUMAN	C	143;143;188;143	ENSP00000386928:G143C;ENSP00000379964:G143C;ENSP00000387156:G188C;ENSP00000386553:G143C	ENSP00000379964:G143C	G	+	1	0	STK16	219820199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.568000	0.98166	2.674000	0.91012	0.655000	0.94253	GGT		PASS	0.562	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			21	141	21	141	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225378357	225378357	+	Splice_Site	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:225378357T>C	ENST00000264414.4	-	5	878		c.e5-2		CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000432260.2_Splice_Site|CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATTGCGCCTCTGTCGAAAAAA	0.303																																						uc002vny.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.e5-1		cullin 3							42.0	42.0	42.0					2																	225378357		2202	4299	6501	SO:0001630	splice_region_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225378357T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.540-2A>G	2.37:g.225378357T>C						CUL3_uc010zls.1_Splice_Site_p.R114_splice|CUL3_uc010fwy.1_Splice_Site_p.R186_splice	p.R180_splice	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	5	924	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)						A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	ENST00000264414.4	37	c.540_splice	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106360	0.77096	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1652	0.81750	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL3	225086601	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.698000	0.84413	2.230000	0.72887	0.528000	0.53228	.		PASS	0.303	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Intron	7	43	7	43	---	---	---	---
ASB1	51665	broad.mit.edu	37	2	239344490	239344490	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:239344490A>C	ENST00000264607.4	+	3	577	c.330A>C	c.(328-330)aaA>aaC	p.K110N	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	110					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)		p.K110N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TGGACGTAAAAGGACAGACGG	0.627																																						uc002vyg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)AAA>AAC		ankyrin repeat and SOCS box-containing protein							67.0	62.0	64.0					2																	239344490		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344490A>C	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.330A>C	2.37:g.239344490A>C	ENSP00000264607:p.Lys110Asn						p.K110N	NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	416	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	110			ANK 3.		A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.330A>C	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.718405	0.68844	.	.	ENSG00000065802	ENST00000264607	T	0.51817	0.69	5.58	3.77	0.43336	Ankyrin repeat-containing domain (4);	0.043992	0.85682	D	0.000000	T	0.38852	0.1056	N	0.01874	-0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45614	-0.9249	10	0.38643	T	0.18	.	9.9328	0.41532	0.223:0.0:0.777:0.0	.	110	Q9Y576	ASB1_HUMAN	N	110	ENSP00000264607:K110N	ENSP00000264607:K110N	K	+	3	2	ASB1	239009229	1.000000	0.71417	0.994000	0.49952	0.699000	0.40488	2.580000	0.46068	0.702000	0.31825	-0.248000	0.11899	AAA		PASS	0.627	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		8	98	8	98	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242066525	242066525	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr2:242066525G>A	ENST00000405260.1	-	10	2503	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	PASK_ENST00000403638.3_Missense_Mutation_p.A602V|PASK_ENST00000358649.4_Missense_Mutation_p.A602V|PASK_ENST00000544142.1_Missense_Mutation_p.A416V|PASK_ENST00000539818.1_Missense_Mutation_p.A386V|PASK_ENST00000234040.4_Missense_Mutation_p.A602V	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	602					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.A602V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTGCCCCCCGCCAGCTGACC	0.672																																						uc002wao.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(1804-1806)GCG>GTG		PAS domain containing serine/threonine kinase							32.0	37.0	35.0					2																	242066525		2201	4298	6499	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066525G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1805C>T	2.37:g.242066525G>A	ENSP00000384016:p.Ala602Val					PASK_uc010zol.1_Missense_Mutation_p.A416V|PASK_uc010zom.1_Missense_Mutation_p.A567V|PASK_uc010fzl.1_Missense_Mutation_p.A602V|PASK_uc010zon.1_Missense_Mutation_p.A383V|PASK_uc002wap.2_Missense_Mutation_p.A145V|PASK_uc002waq.2_Missense_Mutation_p.A602V	p.A602V	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1897	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	602					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1805C>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	7.926	0.739590	0.15642	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.33;-0.36;0.6	4.63	1.68	0.24146	.	0.673874	0.13504	N	0.383030	T	0.50069	0.1594	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.21452	0.005;0.032;0.009;0.056;0.005	B;B;B;B;B	0.17433	0.004;0.006;0.008;0.018;0.004	T	0.40850	-0.9541	10	0.56958	D	0.05	.	5.8435	0.18647	0.085:0.135:0.6416:0.1385	.	567;416;602;602;602	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	V	602;416;602;602;386;602	ENSP00000234040:A602V;ENSP00000441374:A416V;ENSP00000384016:A602V;ENSP00000351475:A602V;ENSP00000443083:A386V;ENSP00000384438:A602V	ENSP00000234040:A602V	A	-	2	0	PASK	241715198	0.025000	0.19082	0.000000	0.03702	0.004000	0.04260	2.603000	0.46266	-0.005000	0.14395	-1.134000	0.01955	GCG		PASS	0.672	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		12	160	12	160	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1262456	1262456	+	Silent	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:1262456C>A	ENST00000446702.2	+	3	768	c.141C>A	c.(139-141)atC>atA	p.I47I	CNTN6_ENST00000350110.2_Silent_p.I47I|CNTN6_ENST00000539053.1_De_novo_Start_InFrame			Q9UQ52	CNTN6_HUMAN	contactin 6	47	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.I47I(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGAGGTCATCCTGAATTGTG	0.403																																						uc003boz.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(139-141)ATC>ATA		contactin 6 precursor							162.0	153.0	156.0					3																	1262456		2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1262456C>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.141C>A	3.37:g.1262456C>A						CNTN6_uc010hbo.2_Silent_p.I42I|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Silent_p.I47I	p.I47I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	3	408	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	47			Ig-like C2-type 1.		Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.141C>A	CCDS2557.1																																																																																				PASS	0.403	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		98	71	98	71	---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17279903	17279903	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:17279903G>C	ENST00000253692.7	-	17	3004	c.1340C>G	c.(1339-1341)gCc>gGc	p.A447G	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A399G|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A447G|TBC1D5_ENST00000446818.2_Missense_Mutation_p.A447G	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	447						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.A447G(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGCACCTTTGGCATTGGTCCT	0.383																																						uc003cbf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1339-1341)GCC>GGC		TBC1 domain family, member 5 isoform b							38.0	39.0	39.0					3																	17279903		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17279903G>C	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1340C>G	3.37:g.17279903G>C	ENSP00000253692:p.Ala447Gly					TBC1D5_uc010heu.2_Missense_Mutation_p.A34G|TBC1D5_uc010hev.2_Missense_Mutation_p.A447G|TBC1D5_uc003cbe.2_Missense_Mutation_p.A447G|TBC1D5_uc010hew.1_Missense_Mutation_p.A399G	p.A447G	NM_014744	NP_055559	Q92609	TBCD5_HUMAN			17	3005	-			447					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1340C>G	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918564	0.33908	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.47528	1.41;1.41;1.39;0.84	5.89	5.02	0.67125	.	0.560495	0.20995	N	0.081979	T	0.42854	0.1221	L	0.47716	1.5	0.43088	D	0.994759	B;B;B;B	0.31435	0.323;0.323;0.323;0.323	B;B;B;B	0.30316	0.079;0.079;0.114;0.114	T	0.41752	-0.9491	10	0.59425	D	0.04	-3.2706	13.514	0.61530	0.0721:0.0:0.9279:0.0	.	399;447;447;447	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	G	447;447;447;399	ENSP00000253692:A447G;ENSP00000398127:A447G;ENSP00000402935:A447G;ENSP00000411925:A399G	ENSP00000253692:A447G	A	-	2	0	TBC1D5	17254907	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.144000	0.71762	1.489000	0.48450	0.555000	0.69702	GCC		PASS	0.383	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		40	27	40	27	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19190249	19190249	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:19190249C>T	ENST00000328405.2	+	1	304	c.38C>T	c.(37-39)aCc>aTc	p.T13I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	13					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.T13I(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CCGCAAAACACCTTCCTGGAC	0.458																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(37-39)ACC>ATC		potassium voltage-gated channel, subfamily H,							157.0	143.0	148.0					3																	19190249		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19190249C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.38C>T	3.37:g.19190249C>T	ENSP00000328813:p.Thr13Ile					KCNH8_uc011awe.1_Missense_Mutation_p.T13I|KCNH8_uc010hex.1_5'UTR	p.T13I	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			1	233	+			13			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.38C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541667	0.96474	.	.	ENSG00000183960	ENST00000328405	D	0.99014	-5.33	5.36	5.36	0.76844	.	0.636526	0.11751	U	0.532988	D	0.99099	0.9690	M	0.71581	2.175	0.80722	D	1	P;P	0.51240	0.867;0.943	P;P	0.58620	0.703;0.842	D	0.99243	1.0885	9	.	.	.	.	19.4553	0.94884	0.0:1.0:0.0:0.0	.	13;13	B7Z398;Q96L42	.;KCNH8_HUMAN	I	13	ENSP00000328813:T13I	.	T	+	2	0	KCNH8	19165253	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.742000	0.85008	2.668000	0.90789	0.462000	0.41574	ACC		PASS	0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		102	56	102	56	---	---	---	---
SGOL1	151648	broad.mit.edu	37	3	20225133	20225133	+	Silent	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:20225133T>C	ENST00000263753.4	-	3	445	c.306A>G	c.(304-306)aaA>aaG	p.K102K	SGOL1_ENST00000452020.1_Silent_p.K102K|SGOL1_ENST00000412997.1_Silent_p.K102K|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000425061.1_Silent_p.K102K|SGOL1_ENST00000437051.1_Silent_p.K102K|SGOL1_ENST00000383774.1_Silent_p.K102K|SGOL1_ENST00000421451.1_Silent_p.K102K|SGOL1_ENST00000429446.3_Silent_p.K102K|SGOL1_ENST00000412868.1_Silent_p.K102K|SGOL1_ENST00000442720.1_Silent_p.K102K|SGOL1_ENST00000417364.1_Silent_p.K102K|SGOL1_ENST00000419233.2_Silent_p.K102K|SGOL1_ENST00000306698.2_Silent_p.K102K|SGOL1_ENST00000443724.1_Silent_p.K102K|SGOL1-AS1_ENST00000448208.1_RNA	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	102	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)	p.K102K(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GTGATGTAAGTTTTCCTTTCA	0.333																																						uc003cbs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(304-306)AAA>AAG		shugoshin-like 1 isoform A2							193.0	181.0	185.0					3																	20225133		2203	4300	6503	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20225133T>C	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.306A>G	3.37:g.20225133T>C						SGOL1_uc003cbr.2_Silent_p.K102K|SGOL1_uc010hfa.2_Silent_p.K102K|SGOL1_uc003cbt.2_Silent_p.K102K|SGOL1_uc003cbu.2_Silent_p.K102K|SGOL1_uc003cbv.2_Silent_p.K102K|SGOL1_uc003cbw.2_Silent_p.K102K|SGOL1_uc003cbx.2_Silent_p.K102K|SGOL1_uc003cby.2_Silent_p.K102K|SGOL1_uc003cbz.2_Silent_p.K102K|SGOL1_uc003cca.2_Silent_p.K102K|SGOL1_uc003ccb.2_Silent_p.K102K|SGOL1_uc003ccc.2_Silent_p.K102K	p.K102K	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN			3	493	-			102			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.306A>G	CCDS33716.1																																																																																				PASS	0.333	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		7	122	7	122	---	---	---	---
RARB	5915	broad.mit.edu	37	3	25542676	25542676	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:25542676T>C	ENST00000404969.1	+	3	331	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.F104L|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000458646.1_5'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	111					embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.F104L(1)|p.F111L(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTTGCAGGGCTTTTTCCGCAG	0.368																																						uc011awl.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|pancreas(1)	3						c.(331-333)TTT>CTT		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						86.0	89.0	88.0					3																	25542676		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25542676T>C	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.331T>C	3.37:g.25542676T>C	ENSP00000385865:p.Phe111Leu					RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Missense_Mutation_p.F104L	p.F111L	NM_016152	NP_057236	P10826	RARB_HUMAN			3	397	+			111			Nuclear receptor.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.331T>C		.	.	.	.	.	.	.	.	.	.	T	28.7	4.941397	0.92526	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.98822	-5.16;-5.16;-5.16	4.98	4.98	0.66077	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.99042	4.41	0.80722	D	1	D;D	0.56287	0.975;0.975	D;D	0.67382	0.919;0.951	D	0.97864	1.0282	10	0.87932	D	0	.	14.6792	0.69004	0.0:0.0:0.0:1.0	.	111;104	P10826;F1D8S6	RARB_HUMAN;.	L	111;111;111;104	ENSP00000373282:F111L;ENSP00000385865:F111L;ENSP00000332296:F104L	ENSP00000332296:F104L	F	+	1	0	RARB	25517680	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	8.040000	0.89188	1.854000	0.53819	0.528000	0.53228	TTT		PASS	0.368	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		3	154	3	154	---	---	---	---
LRRC3B	116135	broad.mit.edu	37	3	26751352	26751352	+	Silent	SNP	T	T	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:26751352T>A	ENST00000396641.2	+	2	781	c.189T>A	c.(187-189)ccT>ccA	p.P63P	LRRC3B_ENST00000417744.1_Silent_p.P63P|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Silent_p.P63P	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	63	LRRNT.					integral component of membrane (GO:0016021)		p.P63P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAGATCTTCCTCCTGAAACAG	0.433																																						uc003cdp.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(187-189)CCT>CCA		leucine rich repeat containing 3B precursor							109.0	105.0	106.0					3																	26751352		2203	4300	6503	SO:0001819	synonymous_variant	116135					integral to membrane		g.chr3:26751352T>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.189T>A	3.37:g.26751352T>A						LRRC3B_uc003cdq.2_Silent_p.P63P	p.P63P	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN			2	778	+			63			LRRNT.		Q5M8T0	Silent	SNP	ENST00000396641.2	37	c.189T>A	CCDS2644.1																																																																																				PASS	0.433	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		65	47	65	47	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38159350	38159350	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:38159350G>A	ENST00000308059.6	+	33	4560	c.4539G>A	c.(4537-4539)gaG>gaA	p.E1513E	DLEC1_ENST00000346219.3_Silent_p.E1513E|DLEC1_ENST00000452631.2_Silent_p.E1516E					deleted in lung and esophageal cancer 1									p.E1513E(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACACTACAGAGATCCCACACT	0.592											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cho.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4537-4539)GAG>GAA		deleted in lung and esophageal cancer 1 isoform							131.0	136.0	134.0					3																	38159350		2088	4225	6313	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38159350G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4539G>A	3.37:g.38159350G>A			OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	876	DLEC1_uc003chp.1_Silent_p.E1513E|DLEC1_uc010hgv.1_Silent_p.E1516E|DLEC1_uc003chr.1_Silent_p.E584E|DLEC1_uc003chs.1_Silent_p.E70E	p.E1513E	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	33	4560	+			1513						Silent	SNP	ENST00000308059.6	37	c.4539G>A	CCDS2672.2																																																																																				PASS	0.592	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		5	343	5	343	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55922517	55922517	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:55922517G>A	ENST00000288221.6	-	14	2719	c.2464C>T	c.(2464-2466)Cgc>Tgc	p.R822C		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	822						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.R822C(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GAGGCGAGGCGTGCTTTGGTG	0.522																																						uc003dhr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2464-2466)CGC>TGC		cytomatrix protein p110							227.0	235.0	232.0					3																	55922517		2100	4218	6318	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55922517G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2464C>T	3.37:g.55922517G>A	ENSP00000288221:p.Arg822Cys					ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Missense_Mutation_p.R301C	p.R822C	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	14	2720	-			822			Potential.		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.2464C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047587	0.55110	.	.	ENSG00000187672	ENST00000288221	T	0.51817	0.69	5.79	5.79	0.91817	.	0.056337	0.64402	D	0.000001	T	0.49457	0.1558	L	0.38175	1.15	0.51482	D	0.999929	D	0.65815	0.995	P	0.51355	0.667	T	0.46938	-0.9155	10	0.52906	T	0.07	-10.6646	14.8248	0.70104	0.0:0.0:0.8561:0.1439	.	822	O15083	ERC2_HUMAN	C	822	ENSP00000288221:R822C	ENSP00000288221:R822C	R	-	1	0	ERC2	55897557	1.000000	0.71417	0.966000	0.40874	0.957000	0.61999	6.591000	0.74090	2.728000	0.93425	0.561000	0.74099	CGC		PASS	0.522	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		32	382	32	382	---	---	---	---
PDE12	201626	broad.mit.edu	37	3	57542759	57542759	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:57542759C>T	ENST00000311180.8	+	1	756	c.653C>T	c.(652-654)cCc>cTc	p.P218L	PDE12_ENST00000487257.1_Missense_Mutation_p.P218L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	218					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.P218L(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TCATTGTCTCCCTCCTCACCT	0.597																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(652-654)CCC>CTC		phosphodiesterase 12							141.0	137.0	139.0					3																	57542759		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57542759C>T	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.653C>T	3.37:g.57542759C>T	ENSP00000309142:p.Pro218Leu					PDE12_uc003div.2_Missense_Mutation_p.P218L	p.P218L	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	779	+			218					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.653C>T	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	C	2.449	-0.326914	0.05350	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.22336	1.96;1.98	4.88	2.99	0.34606	.	0.820630	0.10733	N	0.640358	T	0.10766	0.0263	N	0.08118	0	0.22156	N	0.999329	B;B	0.12013	0.001;0.005	B;B	0.15484	0.005;0.013	T	0.34650	-0.9820	10	0.30078	T	0.28	-1.6022	7.8592	0.29499	0.1916:0.6373:0.171:0.0	.	218;218	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	L	218	ENSP00000420626:P218L;ENSP00000309142:P218L	ENSP00000309142:P218L	P	+	2	0	PDE12	57517799	0.965000	0.33210	0.325000	0.25375	0.017000	0.09413	0.000000	0.12993	0.509000	0.28195	0.561000	0.74099	CCC		PASS	0.597	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		88	236	88	236	---	---	---	---
SLMAP	7871	broad.mit.edu	37	3	57835536	57835536	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:57835536A>G	ENST00000428312.1	+	5	606	c.512A>G	c.(511-513)tAt>tGt	p.Y171C	SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.Y171C|SLMAP_ENST00000449503.2_Missense_Mutation_p.Y171C|SLMAP_ENST00000383718.3_Missense_Mutation_p.Y171C|SLMAP_ENST00000295951.3_Missense_Mutation_p.Y171C			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	171					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.Y171C(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTTTCTCAGTATCTACAGGTA	0.358																																						uc003dje.1																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)TAT>TGT		sarcolemma associated protein							146.0	142.0	144.0					3																	57835536		2203	4300	6503	SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57835536A>G	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.512A>G	3.37:g.57835536A>G	ENSP00000398661:p.Tyr171Cys					SLMAP_uc003djc.1_Missense_Mutation_p.Y171C|SLMAP_uc003djd.1_Missense_Mutation_p.Y171C|SLMAP_uc003djf.1_Missense_Mutation_p.Y171C	p.Y171C	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	5	717	+			171			Cytoplasmic (Potential).|Potential.		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.512A>G		.	.	.	.	.	.	.	.	.	.	A	22.2	4.261947	0.80358	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.99;0.999;0.997	T	0.74225	-0.3734	10	0.49607	T	0.09	-6.8844	15.6362	0.76953	1.0:0.0:0.0:0.0	.	171;171;171;171	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	C	171	ENSP00000295951:Y171C;ENSP00000295952:Y171C;ENSP00000373224:Y171C;ENSP00000398661:Y171C;ENSP00000412945:Y171C	ENSP00000295951:Y171C	Y	+	2	0	SLMAP	57810576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.652000	0.91083	2.090000	0.63153	0.460000	0.39030	TAT		PASS	0.358	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		51	48	51	48	---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101086710	101086710	+	Silent	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:101086710T>C	ENST00000394095.2	-	8	995	c.942A>G	c.(940-942)caA>caG	p.Q314Q	SENP7_ENST00000314261.7_Silent_p.Q248Q|SENP7_ENST00000348610.3_Silent_p.Q281Q|SENP7_ENST00000394094.2_Silent_p.Q249Q|SENP7_ENST00000394091.1_Silent_p.Q150Q|SENP7_ENST00000358203.3_Silent_p.Q150Q	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	314						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.Q248Q(1)|p.Q314Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGTACAATATTGAGAATCAG	0.323																																						uc003dut.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)	5						c.(940-942)CAA>CAG		sentrin/SUMO-specific protease 7 isoform 1							124.0	136.0	132.0					3																	101086710		2201	4299	6500	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101086710T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.942A>G	3.37:g.101086710T>C						SENP7_uc003duu.2_Silent_p.Q249Q|SENP7_uc003duv.2_Silent_p.Q281Q|SENP7_uc003duw.2_Silent_p.Q248Q|SENP7_uc003dux.2_Silent_p.Q150Q	p.Q314Q	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			8	1053	-			314					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.942A>G	CCDS2941.2																																																																																				PASS	0.323	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		22	23	22	23	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107491664	107491664	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:107491664G>A	ENST00000325805.8	+	11	1383	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.D366N|BBX_ENST00000402543.1_Missense_Mutation_p.D366N|BBX_ENST00000415149.2_Missense_Mutation_p.D366N			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	366					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D366N(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAATTTAAGAGATTCTAAGGA	0.318																																						uc010hpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1096-1098)GAT>AAT		HMG-BOX transcription factor BBX isoform 1							58.0	70.0	66.0					3																	107491664		2198	4294	6492	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107491664G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1096G>A	3.37:g.107491664G>A	ENSP00000319974:p.Asp366Asn					BBX_uc003dwk.3_Missense_Mutation_p.D366N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.D387N|BBX_uc003dwm.3_Missense_Mutation_p.D366N|BBX_uc003dwo.3_5'Flank	p.D366N	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1423	+			366			Potential.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1096G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948270	0.53186	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000402163;ENST00000406780	D;D;D;D;D	0.98550	-4.49;-4.49;-4.49;-4.99;-4.49	6.16	6.16	0.99307	.	0.609310	0.18693	N	0.133795	D	0.94860	0.8339	N	0.24115	0.695	0.28002	N	0.93525	B;P;P	0.37370	0.22;0.568;0.592	B;B;B	0.36418	0.093;0.201;0.224	D	0.91047	0.4875	10	0.56958	D	0.05	-1.5962	9.8046	0.40786	0.069:0.0:0.7906:0.1404	.	366;366;366	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	N	366;217;366;366;366;366	ENSP00000408358:D366N;ENSP00000385317:D366N;ENSP00000319974:D366N;ENSP00000385518:D366N;ENSP00000385530:D366N	ENSP00000319742:D217N	D	+	1	0	BBX	108974354	0.998000	0.40836	0.999000	0.59377	0.987000	0.75469	2.070000	0.41491	2.937000	0.99478	0.650000	0.86243	GAT		PASS	0.318	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		5	91	5	91	---	---	---	---
SPICE1	152185	broad.mit.edu	37	3	113172482	113172482	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:113172482G>C	ENST00000295872.4	-	14	2232	c.1973C>G	c.(1972-1974)aCa>aGa	p.T658R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	658					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.T658R(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TGACTCATTTGTTCTCAGCTG	0.423																																						uc003eag.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1972-1974)ACA>AGA		coiled-coil domain containing 52							150.0	152.0	151.0					3																	113172482		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172482G>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1973C>G	3.37:g.113172482G>C	ENSP00000295872:p.Thr658Arg					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.T554R	p.T658R	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			14	2264	-			658					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1973C>G	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274853	0.59649	.	.	ENSG00000163611	ENST00000295872	T	0.33438	1.41	5.64	5.64	0.86602	.	0.528893	0.19898	N	0.103582	T	0.42877	0.1222	M	0.63428	1.95	0.47905	D	0.999549	P;P	0.43701	0.815;0.815	P;P	0.48227	0.571;0.571	T	0.26883	-1.0090	10	0.56958	D	0.05	-3.9495	15.207	0.73186	0.0:0.0:1.0:0.0	.	554;658	B3KX77;Q8N0Z3	.;SPICE_HUMAN	R	658	ENSP00000295872:T658R	ENSP00000295872:T658R	T	-	2	0	SPICE1	114655172	0.999000	0.42202	0.947000	0.38551	0.507000	0.33981	5.127000	0.64727	2.654000	0.90174	0.563000	0.77884	ACA		PASS	0.423	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		84	175	84	175	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113514756	113514757	+	Missense_Mutation	DNP	AG	AG	CA	rs377421207		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:113514756_113514757AG>CA	ENST00000273398.3	+	11	1368_1369	c.1260_1261AG>CA	c.(1258-1263)ccAGtt>ccCAtt	p.V421I	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.V388I	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	421					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.V421I(2)|p.P420P(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TTTCTGATCCAGTTACATCTGC	0.381																																						uc003eao.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|skin(1)	3						c.(1258-1260)CCA>CCC|c.(1261-1263)GTT>ATT		ATPase, H+ transporting, lysosomal V1 subunit A																																				SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113514756A>C|g.chr3:113514757G>A	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	Exception_encountered	3.37:g.113514756_113514757delinsCA	ENSP00000273398:p.Val421Ile					ATP6V1A_uc011bik.1_Silent_p.P387P|ATP6V1A_uc011bik.1_Missense_Mutation_p.V388I	p.P420P|p.V421I	NM_001690	NP_001681	P38606	VATA_HUMAN			11	1326|1327	+			420|421					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent|Missense_Mutation	SNP	ENST00000273398.3	37	c.1260A>C|c.1261G>A	CCDS2976.1																																																																																				PASS	0.381	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		62|59	37|36	59	36	---	---	---	---
EAF2	55840	broad.mit.edu	37	3	121591526	121591526	+	Silent	SNP	A	A	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:121591526A>G	ENST00000273668.2	+	5	698	c.627A>G	c.(625-627)acA>acG	p.T209T	EAF2_ENST00000451944.2_Silent_p.T209T	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	209	Necessary for transactivation activity.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.T209T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CTTCTGATACAGGGAATTGTG	0.403																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	uc003een.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(625-627)ACA>ACG		ELL associated factor 2							113.0	106.0	108.0					3																	121591526		2203	4300	6503	SO:0001819	synonymous_variant	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121591526A>G	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.627A>G	3.37:g.121591526A>G						EAF2_uc003eeo.2_Silent_p.T79T	p.T209T	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	5	726	+			209			Necessary for transactivation activity.		Q9NZ82	Silent	SNP	ENST00000273668.2	37	c.627A>G	CCDS3006.1																																																																																				PASS	0.403	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		4	60	4	60	---	---	---	---
TF	7018	broad.mit.edu	37	3	133485154	133485154	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:133485154G>T	ENST00000402696.3	+	12	1848	c.1363G>T	c.(1363-1365)Gct>Tct	p.A455S	TF_ENST00000264998.3_Missense_Mutation_p.A328S	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	455	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.A455S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GAAGAAATCAGCTTCTGACCT	0.498																																						uc003epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1363-1365)GCT>TCT		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						222.0	215.0	217.0					3																	133485154		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133485154G>T		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1363G>T	3.37:g.133485154G>T	ENSP00000385834:p.Ala455Ser					TF_uc011blt.1_Missense_Mutation_p.A328S|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.A455S	p.A455S	NM_001063	NP_001054	P02787	TRFE_HUMAN			17	3091	+			455			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1363G>T	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821140	0.16678	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.03689	3.84;3.84	4.87	-3.98	0.04082	.	1.115770	0.06535	N	0.742137	T	0.01029	0.0034	N	0.00599	-1.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45789	-0.9237	10	0.36615	T	0.2	-3.1153	1.6995	0.02869	0.2261:0.0988:0.3713:0.3037	.	455	P02787	TRFE_HUMAN	S	455;328	ENSP00000385834:A455S;ENSP00000264998:A328S	ENSP00000264998:A328S	A	+	1	0	TF	134967844	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.154000	0.16343	-1.400000	0.02061	-2.930000	0.00088	GCT		PASS	0.498	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		182	387	182	387	---	---	---	---
MME	4311	broad.mit.edu	37	3	154832874	154832874	+	Silent	SNP	C	C	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:154832874C>G	ENST00000460393.1	+	4	408	c.288C>G	c.(286-288)gtC>gtG	p.V96V	MME_ENST00000492661.1_Silent_p.V96V|MME_ENST00000493237.1_Silent_p.V96V|MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Silent_p.V96V|MME_ENST00000462745.1_Silent_p.V96V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	96					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.V96V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AACGTAATGTCATTCCCGAGA	0.448																																						uc010hvr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(286-288)GTC>GTG		membrane metallo-endopeptidase	Candoxatril(DB00616)						136.0	126.0	129.0					3																	154832874		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154832874C>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.288C>G	3.37:g.154832874C>G						MME_uc003fab.1_Silent_p.V96V|MME_uc003fac.1_Silent_p.V96V|MME_uc003fad.1_Silent_p.V96V|MME_uc003fae.1_Silent_p.V96V	p.V96V	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		4	499	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	96			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.288C>G	CCDS3172.1																																																																																				PASS	0.448	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		12	302	12	302	---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167422680	167422680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:167422680C>A	ENST00000392750.2	-	4	517	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	PDCD10_ENST00000470131.1_Nonsense_Mutation_p.E34*|PDCD10_ENST00000461494.1_Nonsense_Mutation_p.E34*|PDCD10_ENST00000473645.2_Nonsense_Mutation_p.E34*|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000471885.1_Nonsense_Mutation_p.E34*|PDCD10_ENST00000497056.2_Nonsense_Mutation_p.E34*|PDCD10_ENST00000487947.2_Nonsense_Mutation_p.E34*	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	34					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E34*(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTTACTCGTTCTAGCTGCaat	0.328																																						uc003fex.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(100-102)GAA>TAA		programmed cell death 10							49.0	50.0	50.0					3																	167422680		2203	4300	6503	SO:0001587	stop_gained	11235	Familial_Cerebral_Cavernous_Angioma			angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167422680C>A	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.100G>T	3.37:g.167422680C>A	ENSP00000376506:p.Glu34*					PDCD10_uc003fez.2_Nonsense_Mutation_p.E34*|PDCD10_uc003fey.2_Nonsense_Mutation_p.E34*	p.E34*	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN			4	498	-			34					A8K515|D3DNN5|O14811	Nonsense_Mutation	SNP	ENST00000392750.2	37	c.100G>T	CCDS3202.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.115895|7.115895	0.98074|0.98074	.|.	.|.	ENSG00000114209|ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360|ENST00000479121	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79770	.|0.4503	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77787	.|-0.2457	.|3	0.66056|.	D|.	0.02|.	-19.6838|-19.6838	19.7905|19.7905	0.96454|0.96454	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	34|14	.|.	ENSP00000376506:E34X|.	E|R	-|-	1|2	0|0	PDCD10|PDCD10	168905374|168905374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.251000|7.251000	0.78297|0.78297	2.691000|2.691000	0.91804|0.91804	0.650000|0.650000	0.86243|0.86243	GAA|AGA		PASS	0.328	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		11	86	11	86	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173997009	173997009	+	Silent	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:173997009A>T	ENST00000457714.1	+	6	1647	c.1218A>T	c.(1216-1218)atA>atT	p.I406I	NLGN1_ENST00000545397.1_Silent_p.I406I|NLGN1_ENST00000361589.4_Silent_p.I406I|NLGN1_ENST00000401917.3_Silent_p.I446I|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	423					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.I406I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATGATGGTATATCAGCTAGTG	0.333																																						uc003fio.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1216-1218)ATA>ATT		neuroligin 1							119.0	126.0	124.0					3																	173997009		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997009A>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1218A>T	3.37:g.173997009A>T						NLGN1_uc010hww.1_Silent_p.I446I|NLGN1_uc003fip.1_Silent_p.I406I	p.I406I	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1641	+	Ovarian(172;0.0025)		423			Extracellular (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.1218A>T	CCDS3222.1																																																																																				PASS	0.333	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		7	409	7	409	---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179051102	179051102	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:179051102C>T	ENST00000326361.3	+	7	795	c.350C>T	c.(349-351)cCt>cTt	p.P117L	ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.P117L|ZNF639_ENST00000484866.1_Missense_Mutation_p.P117L	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	117					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P117L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGTGACTCACCTGAATCAGTC	0.358																																						uc003fjq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)CCT>CTT		zinc finger protein 639							51.0	50.0	50.0					3																	179051102		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051102C>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.350C>T	3.37:g.179051102C>T	ENSP00000325634:p.Pro117Leu					ZNF639_uc003fjr.1_Missense_Mutation_p.P117L	p.P117L	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	693	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		117					A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.350C>T	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633913	0.67130	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000481587;ENST00000326361;ENST00000466264;ENST00000484866;ENST00000494234	T;T;T;T	0.03745	3.82;3.82;4.39;3.82	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	L	0.34521	1.04	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.04840	-1.0923	10	0.37606	T	0.19	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	117	Q9UID6	ZN639_HUMAN	L	117	ENSP00000417740:P117L;ENSP00000325634:P117L;ENSP00000419650:P117L;ENSP00000418766:P117L	ENSP00000325634:P117L	P	+	2	0	ZNF639	180533796	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.618000	0.54188	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.358	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		41	109	41	109	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183491565	183491565	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:183491565G>A	ENST00000305135.5	+	17	2546	c.2351G>A	c.(2350-2352)cGa>cAa	p.R784Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	784					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.R784Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCATCCTGCGAGCTACGAAC	0.453																																						uc003fly.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2350-2352)CGA>CAA		YEATS domain containing 2							99.0	96.0	97.0					3																	183491565		1931	4153	6084	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183491565G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2351G>A	3.37:g.183491565G>A	ENSP00000306983:p.Arg784Gln					YEATS2_uc003flz.2_5'Flank	p.R784Q	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		17	2546	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		784					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.2351G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565334	0.96527	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.46063	0.88	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	T	0.56046	0.1959	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.57814	-0.7746	10	0.72032	D	0.01	-14.9674	19.8753	0.96867	0.0:0.0:1.0:0.0	.	784	Q9ULM3	YETS2_HUMAN	Q	784	ENSP00000306983:R784Q	ENSP00000306983:R784Q	R	+	2	0	YEATS2	184974259	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	9.476000	0.97823	2.711000	0.92665	0.655000	0.94253	CGA		PASS	0.453	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		7	379	7	379	---	---	---	---
IGF2BP2	10644	broad.mit.edu	37	3	185407394	185407394	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:185407394C>T	ENST00000382199.2	-	6	521	c.426G>A	c.(424-426)ggG>ggA	p.G142G	IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000457616.2_Silent_p.G148G|IGF2BP2_ENST00000421047.2_Silent_p.G85G|IGF2BP2_ENST00000346192.3_Silent_p.G142G	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	142	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.G142G(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CAAACTGATGCCCGCTTAGCT	0.582																																						uc003fpo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(424-426)GGG>GGA		insulin-like growth factor 2 mRNA binding							61.0	63.0	63.0					3																	185407394		2203	4300	6503	SO:0001819	synonymous_variant	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185407394C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.426G>A	3.37:g.185407394C>T						IGF2BP2_uc010hyi.2_Silent_p.G85G|IGF2BP2_uc010hyj.2_Silent_p.G79G|IGF2BP2_uc010hyk.2_Silent_p.G6G|IGF2BP2_uc010hyl.2_Silent_p.G79G|IGF2BP2_uc003fpp.2_Silent_p.G142G|IGF2BP2_uc003fpq.2_Silent_p.G147G	p.G142G	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		6	505	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		142			RRM 2.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	ENST00000382199.2	37	c.426G>A	CCDS3273.2																																																																																				PASS	0.582	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		6	684	6	684	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188124045	188124045	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:188124045C>T	ENST00000312675.4	+	3	383	c.137C>T	c.(136-138)gCc>gTc	p.A46V	LPP_ENST00000448637.1_Missense_Mutation_p.A46V|LPP_ENST00000543006.1_Missense_Mutation_p.A46V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	46	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.A46V(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AAAAAGTTTGCCCCGGTAGTT	0.512			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	1	Substitution - Missense(1)		lung(1)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(136-138)GCC>GTC		LIM domain containing preferred translocation							107.0	107.0	107.0					3																	188124045		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188124045C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.137C>T	3.37:g.188124045C>T	ENSP00000318089:p.Ala46Val					LPP_uc011bsg.1_Missense_Mutation_p.A46V|LPP_uc011bsi.1_Missense_Mutation_p.A46V|LPP_uc003frt.2_Missense_Mutation_p.A46V	p.A46V	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	3	383	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	46			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.137C>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935949	0.92458	.	.	ENSG00000145012	ENST00000448637;ENST00000416784;ENST00000430340;ENST00000414139;ENST00000454789;ENST00000426274;ENST00000420410;ENST00000443217;ENST00000312675;ENST00000543006;ENST00000457242	T;T;T;T	0.65549	1.55;0.37;-0.16;-0.16	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.993;1.0;0.994	D;D;P	0.85130	0.978;0.997;0.844	T	0.76911	-0.2784	10	0.45353	T	0.12	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	46;46;46	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	V	46	ENSP00000393602:A46V;ENSP00000410340:A46V;ENSP00000318089:A46V;ENSP00000438891:A46V	ENSP00000318089:A46V	A	+	2	0	LPP	189606739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.318000	0.79029	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.512	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		8	765	8	765	---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080189	194080189	+	Missense_Mutation	SNP	G	G	C	rs115511298	byFrequency	TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:194080189G>C	ENST00000347624.3	-	2	1669	c.1584C>G	c.(1582-1584)agC>agG	p.S528R	LRRC15_ENST00000439944.2_Missense_Mutation_p.S534R|LRRC15_ENST00000428839.1_Missense_Mutation_p.S534R	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	528					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.S528R(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGCCCCAAACGCTGCGGTCAT	0.587																																						uc003ftu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1582-1584)AGC>AGG		leucine rich repeat containing 15 isoform b							113.0	108.0	110.0					3																	194080189		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080189G>C	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1584C>G	3.37:g.194080189G>C	ENSP00000306276:p.Ser528Arg					LRRC15_uc003ftt.2_Missense_Mutation_p.S534R	p.S528R	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1670	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		528			Extracellular (Potential).		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1584C>G	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	0.863	-0.734482	0.03111	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56103	0.48;0.51;0.51	5.37	-3.72	0.04411	.	2.530780	0.01505	N	0.017691	T	0.29588	0.0738	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.08086	-1.0739	10	0.14656	T	0.56	.	3.668	0.08264	0.3899:0.1386:0.386:0.0856	.	528;534	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	R	528;534;534	ENSP00000306276:S528R;ENSP00000389128:S534R;ENSP00000413707:S534R	ENSP00000306276:S528R	S	-	3	2	LRRC15	195561484	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.059000	0.14322	-0.377000	0.07930	-1.326000	0.01283	AGC		PASS	0.587	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			80	230	80	230	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196094906	196094906	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:196094906G>A	ENST00000296328.4	-	8	901	c.827C>T	c.(826-828)gCc>gTc	p.A276V	UBXN7_ENST00000428095.1_Missense_Mutation_p.A114V|UBXN7_ENST00000535858.1_Missense_Mutation_p.A128V	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	276						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.A276V(2)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TACTGAACGGGCACATTTTTT	0.388																																						uc003fwm.3																			2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(2)|pancreas(1)	3						c.(826-828)GCC>GTC		UBX domain containing 7							151.0	139.0	143.0					3																	196094906		1852	4092	5944	SO:0001583	missense	26043						protein binding	g.chr3:196094906G>A	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.827C>T	3.37:g.196094906G>A	ENSP00000296328:p.Ala276Val					UBXN7_uc003fwn.3_Missense_Mutation_p.A128V|UBXN7_uc010iae.2_Missense_Mutation_p.A114V	p.A276V	NM_015562	NP_056377	O94888	UBXN7_HUMAN			8	902	-			276					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.827C>T	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408023	0.42715	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.29	4.38	0.52667	.	0.234110	0.43579	D	0.000544	T	0.36441	0.0967	N	0.12182	0.205	0.41237	D	0.986616	B	0.06786	0.001	B	0.06405	0.002	T	0.17077	-1.0381	9	0.29301	T	0.29	-8.3197	10.7778	0.46361	0.0763:0.144:0.7797:0.0	.	276	O94888	UBXN7_HUMAN	V	276;114;128	.	ENSP00000296328:A276V	A	-	2	0	UBXN7	197579303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.788000	0.55446	2.734000	0.93682	0.655000	0.94253	GCC		PASS	0.388	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		6	544	6	544	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229064	8229064	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:8229064G>T	ENST00000245105.3	+	12	1710	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V	SH3TC1_ENST00000539824.1_Missense_Mutation_p.G472V|SH3TC1_ENST00000514274.1_3'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	548								p.G548V(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGGCCCGGGGGGCGGCCAAG	0.697																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(1642-1644)GGG>GTG		SH3 domain and tetratricopeptide repeats 1							11.0	15.0	13.0					4																	8229064		2143	4230	6373	SO:0001583	missense	54436						binding	g.chr4:8229064G>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1643G>T	4.37:g.8229064G>T	ENSP00000245105:p.Gly548Val					SH3TC1_uc003gkw.3_Missense_Mutation_p.G472V|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	p.G548V	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			12	1744	+			548					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.1643G>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	2.032	-0.422240	0.04734	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.75704	-0.96;-0.94	4.51	-1.93	0.07594	.	0.383980	0.26907	N	0.021882	T	0.56514	0.1990	L	0.46157	1.445	0.34579	D	0.714287	B	0.22211	0.066	B	0.21151	0.033	T	0.36335	-0.9752	10	0.33141	T	0.24	-21.4586	1.7782	0.03026	0.2479:0.3556:0.2612:0.1352	.	548	Q8TE82	S3TC1_HUMAN	V	286;548;472;377	ENSP00000245105:G548V;ENSP00000441045:G472V	ENSP00000245105:G548V	G	+	2	0	SH3TC1	8279964	0.869000	0.29996	0.011000	0.14972	0.002000	0.02628	1.622000	0.36997	-0.251000	0.09542	0.561000	0.74099	GGG		PASS	0.697	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		17	30	17	30	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	16037384	16037384	+	Splice_Site	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:16037384G>T	ENST00000510224.1	-	4	525	c.277C>A	c.(277-279)Cca>Aca	p.P93T	PROM1_ENST00000539194.1_Splice_Site_p.P93T|PROM1_ENST00000505450.1_Intron|PROM1_ENST00000447510.2_Splice_Site_p.P93T|PROM1_ENST00000502943.1_Intron|PROM1_ENST00000543373.1_Intron|PROM1_ENST00000540805.1_Splice_Site_p.P93T|PROM1_ENST00000508167.1_Intron			O43490	PROM1_HUMAN	prominin 1	93					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.P93T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACAGTTTCTGGCTGTAGAAGT	0.408																																						uc003goo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						c.(277-279)CCA>ACA		prominin 1 isoform 1							183.0	164.0	170.0					4																	16037384		1883	4108	5991	SO:0001630	splice_region_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16037384G>T	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.277-1C>A	4.37:g.16037384G>T						PROM1_uc003gor.2_Missense_Mutation_p.P93T|PROM1_uc003gos.2_Intron|PROM1_uc003got.2_Missense_Mutation_p.P93T|PROM1_uc003gou.2_Intron|PROM1_uc003gop.2_Intron|PROM1_uc003goq.3_Intron|PROM1_uc010iec.1_Intron	p.P93T	NM_006017	NP_006008	O43490	PROM1_HUMAN			3	489	-			93			Extracellular (Potential).		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	c.277C>A	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806033	0.70682	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000510224	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.46	5.46	0.80206	.	0.513993	0.19368	N	0.115972	T	0.62502	0.2433	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.988;0.993	T	0.55444	-0.8140	10	0.15066	T	0.55	-4.0698	17.5021	0.87734	0.0:0.0:1.0:0.0	.	93;93;93	O43490-6;O43490-7;O43490	.;.;PROM1_HUMAN	T	93	ENSP00000415481:P93T;ENSP00000438045:P93T;ENSP00000443620:P93T;ENSP00000426809:P93T	ENSP00000415481:P93T	P	-	1	0	PROM1	15646482	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	6.876000	0.75556	2.573000	0.86826	0.655000	0.94253	CCA		PASS	0.408	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	Missense_Mutation	41	144	41	144	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22390725	22390725	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418																																						uc003gqm.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2707-2709)CGG>CGA		G protein-coupled receptor 125 precursor							206.0	217.0	213.0					4																	22390725		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390725C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2709G>A	4.37:g.22390725C>T						GPR125_uc010ieo.1_Silent_p.R759R|GPR125_uc003gql.1_Silent_p.R30R	p.R903R	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			18	2974	-		Breast(46;0.198)	903			Extracellular (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2709G>A	CCDS33964.1																																																																																				PASS	0.418	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	432	5	432	---	---	---	---
C4orf19	55286	broad.mit.edu	37	4	37592256	37592256	+	Silent	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:37592256C>A	ENST00000284437.6	+	3	757	c.579C>A	c.(577-579)ggC>ggA	p.G193G	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Silent_p.G193G|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	193								p.G193G(1)		large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCATTGGGGCCCAGCTGGAG	0.498																																						uc003gsw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(577-579)GGC>GGA		hypothetical protein LOC55286							60.0	62.0	62.0					4																	37592256		2203	4300	6503	SO:0001819	synonymous_variant	55286							g.chr4:37592256C>A	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.579C>A	4.37:g.37592256C>A						C4orf19_uc003gsy.3_Silent_p.G193G	p.G193G	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN			4	762	+			193					Q9NV03	Silent	SNP	ENST00000284437.6	37	c.579C>A	CCDS3442.1																																																																																				PASS	0.498	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		47	64	47	64	---	---	---	---
DCAF4L1	285429	broad.mit.edu	37	4	41984871	41984871	+	Silent	SNP	C	C	A	rs372930602		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:41984871C>A	ENST00000333141.5	+	1	1159	c.1062C>A	c.(1060-1062)tcC>tcA	p.S354S		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	354								p.S354S(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCATCCCTTCCCCGTACTCTG	0.637																																						uc003gwk.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1060-1062)TCC>TCA		WD repeat domain 21B							89.0	74.0	79.0					4																	41984871		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984871C>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.1062C>A	4.37:g.41984871C>A							p.S354S	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	1159	+			354					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.1062C>A	CCDS33978.1																																																																																				PASS	0.637	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		44	101	44	101	---	---	---	---
SHISA3	152573	broad.mit.edu	37	4	42403075	42403075	+	Silent	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:42403075G>T	ENST00000319234.4	+	2	542	c.324G>T	c.(322-324)gcG>gcT	p.A108A		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	108					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A108A(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TCTTCATTGCGTTCATCATCC	0.502																																						uc003gwp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(322-324)GCG>GCT		shisa homolog 3 precursor							216.0	216.0	216.0					4																	42403075		2203	4300	6503	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403075G>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.324G>T	4.37:g.42403075G>T							p.A108A	NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN			2	542	+			108			Helical; (Potential).		A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.324G>T	CCDS33979.1																																																																																				PASS	0.502	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		134	290	134	290	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	43022436	43022436	+	Splice_Site	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:43022436G>C	ENST00000399770.2	+	3	693	c.693G>C	c.(691-693)gaG>gaC	p.E231D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	231	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.E231D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CCAAAATTGAGGTAAATGTGC	0.333																																						uc003gwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(691-693)GAG>GAC		glutaredoxin, cysteine rich 1							77.0	74.0	75.0					4																	43022436		1836	4077	5913	SO:0001630	splice_region_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:43022436G>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.693+1G>C	4.37:g.43022436G>C							p.E231D	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			3	693	+			231			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.693G>C	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344452	0.82022	.	.	ENSG00000215203	ENST00000399770	T	0.38240	1.15	5.79	5.79	0.91817	Glutaredoxin (1);	0.000000	0.64402	U	0.000001	T	0.56031	0.1958	L	0.53249	1.67	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.42599	-0.9442	10	0.30854	T	0.27	-21.8807	19.0179	0.92901	0.0:0.0:1.0:0.0	.	231	A8MXD5	GRCR1_HUMAN	D	231	ENSP00000382670:E231D	ENSP00000382670:E231D	E	+	3	2	GRXCR1	42717193	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.406000	0.97321	2.741000	0.93983	0.484000	0.47621	GAG		PASS	0.333	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476	Missense_Mutation	11	48	11	48	---	---	---	---
ODAM	54959	broad.mit.edu	37	4	71063746	71063746	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:71063746T>G	ENST00000396094.2	+	4	295	c.247T>G	c.(247-249)Ttt>Gtt	p.F83V		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	83	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.F83V(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCTAGACCAGTTTGCTGGACT	0.483																																						uc003hfc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(247-249)TTT>GTT		odontogenic ameloblast-associated protein							194.0	191.0	192.0					4																	71063746		1878	4109	5987	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063746T>G	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.247T>G	4.37:g.71063746T>G	ENSP00000379401:p.Phe83Val						p.F83V	NM_017855	NP_060325	A1E959	ODAM_HUMAN			4	264	+			83			Gln-rich.		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.247T>G	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464341	0.26335	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.49720	0.77;0.77	4.79	2.28	0.28536	.	.	.	.	.	T	0.40119	0.1104	L	0.55481	1.735	0.09310	N	1	B	0.25563	0.129	B	0.26202	0.067	T	0.39143	-0.9628	9	0.59425	D	0.04	-3.0432	4.8446	0.13507	0.0:0.098:0.1887:0.7133	.	83	A1E959	ODAM_HUMAN	V	83;69;36	ENSP00000379401:F83V;ENSP00000426106:F36V	ENSP00000379401:F83V	F	+	1	0	ODAM	71098335	0.028000	0.19301	0.013000	0.15412	0.005000	0.04900	0.163000	0.16520	0.314000	0.23086	0.459000	0.35465	TTT		PASS	0.483	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		126	769	126	769	---	---	---	---
FGF5	2250	broad.mit.edu	37	4	81207593	81207593	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:81207593C>A	ENST00000312465.7	+	3	800	c.574C>A	c.(574-576)Ctg>Atg	p.L192M	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	192					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.L192M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GTATGTGGCCCTGAATAAAAG	0.478																																						uc003hmd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(574-576)CTG>ATG		fibroblast growth factor 5 isoform 1 precursor							86.0	97.0	93.0					4																	81207593		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207593C>A	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.574C>A	4.37:g.81207593C>A	ENSP00000311697:p.Leu192Met					FGF5_uc003hme.2_3'UTR	p.L192M	NM_004464	NP_004455	P12034	FGF5_HUMAN			3	811	+			192					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.574C>A	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385893	0.61956	.	.	ENSG00000138675	ENST00000312465	T	0.77358	-1.09	5.82	0.934	0.19477	.	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85314	0.1080	10	0.87932	D	0	.	10.1735	0.42924	0.0:0.5807:0.0:0.4193	.	192	P12034	FGF5_HUMAN	M	192	ENSP00000311697:L192M	ENSP00000311697:L192M	L	+	1	2	FGF5	81426617	0.914000	0.31030	0.996000	0.52242	0.855000	0.48748	1.602000	0.36783	0.333000	0.23563	-0.157000	0.13467	CTG		PASS	0.478	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			260	91	260	91	---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89591400	89591400	+	Silent	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:89591400G>T	ENST00000402738.1	+	16	2147	c.1908G>T	c.(1906-1908)ggG>ggT	p.G636G	HERC3_ENST00000543130.1_Silent_p.G80G|HERC3_ENST00000264345.3_Silent_p.G636G	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	636					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.G636G(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)		ATCAAGCAGGGATGGTAAGAA	0.353																																						uc003hrw.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(1906-1908)GGG>GGT		hect domain and RLD 3							100.0	95.0	97.0					4																	89591400		2203	4300	6503	SO:0001819	synonymous_variant	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89591400G>T	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.1908G>T	4.37:g.89591400G>T						HERC3_uc011cdn.1_Silent_p.G518G|HERC3_uc011cdo.1_Silent_p.G80G	p.G636G	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	16	2074	+			636					A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	c.1908G>T	CCDS34028.1																																																																																				PASS	0.353	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		26	55	26	55	---	---	---	---
SPATA4	132851	broad.mit.edu	37	4	177113858	177113858	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr4:177113858A>G	ENST00000280191.2	-	4	716	c.608T>C	c.(607-609)aTg>aCg	p.M203T	SPATA4_ENST00000515234.1_Missense_Mutation_p.M30T	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	203						cytoplasm (GO:0005737)		p.M203T(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ATTGGTCAGCATGTTGGGATT	0.368																																						uc003iuo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(607-609)ATG>ACG		spermatogenesis associated 4							91.0	93.0	92.0					4																	177113858		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177113858A>G	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.608T>C	4.37:g.177113858A>G	ENSP00000280191:p.Met203Thr						p.M203T	NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	4	717	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	203					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.608T>C	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	A	1.209	-0.630367	0.03610	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.20881	2.04	5.51	-4.11	0.03928	.	1.180050	0.05996	N	0.646832	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.31641	-0.9936	10	0.13108	T	0.6	-20.9345	0.4416	0.00487	0.2809:0.2231:0.14:0.356	.	203	Q8NEY3	SPAT4_HUMAN	T	203;30	ENSP00000280191:M203T	ENSP00000280191:M203T	M	-	2	0	SPATA4	177350852	0.000000	0.05858	0.043000	0.18650	0.377000	0.30045	-0.480000	0.06559	-0.804000	0.04410	-1.140000	0.01884	ATG		PASS	0.368	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		14	50	14	50	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7826899	7826899	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr5:7826899A>G	ENST00000338316.4	+	25	3280	c.3191A>G	c.(3190-3192)aAc>aGc	p.N1064S	ADCY2_ENST00000537121.1_Missense_Mutation_p.N884S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1064					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.N1064S(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAATAATCAACGTGAAAGGA	0.517																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(3190-3192)AAC>AGC		adenylate cyclase 2							115.0	99.0	104.0					5																	7826899		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7826899A>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3191A>G	5.37:g.7826899A>G	ENSP00000342952:p.Asn1064Ser					ADCY2_uc011cmo.1_Missense_Mutation_p.N884S|ADCY2_uc010itm.1_Missense_Mutation_p.N260S	p.N1064S	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			25	3258	+			1064			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.3191A>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670235	0.47677	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.80304	-1.36;-1.36	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	T	0.74779	0.3761	N	0.16743	0.435	0.46376	D	0.999014	P;B	0.43578	0.811;0.101	P;B	0.47981	0.563;0.09	T	0.75712	-0.3222	10	0.36615	T	0.2	.	15.5055	0.75735	1.0:0.0:0.0:0.0	.	884;1064	B7Z2C1;Q08462	.;ADCY2_HUMAN	S	1064;176;897;884	ENSP00000342952:N1064S;ENSP00000444803:N884S	ENSP00000342952:N1064S	N	+	2	0	ADCY2	7879899	1.000000	0.71417	0.991000	0.47740	0.786000	0.44442	7.245000	0.78237	2.061000	0.61500	0.482000	0.46254	AAC		PASS	0.517	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		127	140	127	140	---	---	---	---
OTULIN	90268	broad.mit.edu	37	5	14678872	14678872	+	Silent	SNP	G	G	T	rs376880523		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr5:14678872G>T	ENST00000284274.4	+	3	390	c.312G>T	c.(310-312)acG>acT	p.T104T		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		104					canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.T104T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AGAAAGCAACGTGTATGAAAA	0.328																																						uc003jfk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(310-312)ACG>ACT		hypothetical protein LOC90268							81.0	76.0	78.0					5																	14678872		1865	4089	5954	SO:0001819	synonymous_variant	90268							g.chr5:14678872G>T																												ENST00000284274.4:c.312G>T	5.37:g.14678872G>T							p.T104T	NM_138348	NP_612357	Q96BN8	F105B_HUMAN			3	464	+	Lung NSC(4;0.00696)		104					D3DTD3|Q8NAS0|Q96IA3	Silent	SNP	ENST00000284274.4	37	c.312G>T	CCDS43302.1																																																																																				PASS	0.328	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			27	62	27	62	---	---	---	---
GPBP1	65056	broad.mit.edu	37	5	56558513	56558513	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr5:56558513A>T	ENST00000506184.2	+	12	2461	c.1356A>T	c.(1354-1356)aaA>aaT	p.K452N	GPBP1_ENST00000454432.2_Missense_Mutation_p.K472N|GPBP1_ENST00000424459.3_Missense_Mutation_p.K472N|GPBP1_ENST00000538707.1_Missense_Mutation_p.K459N|GPBP1_ENST00000514387.2_Missense_Mutation_p.K281N|GPBP1_ENST00000264779.6_Missense_Mutation_p.K459N|GPBP1_ENST00000511209.1_Missense_Mutation_p.K444N			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	452					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K452N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GCACTTTCAAACCCACAACTG	0.388																																						uc003jrh.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1354-1356)AAA>AAT		GC-rich promoter binding protein 1 isoform 1							166.0	151.0	156.0					5																	56558513		2203	4300	6503	SO:0001583	missense	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56558513A>T		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1356A>T	5.37:g.56558513A>T	ENSP00000421202:p.Lys452Asn					GPBP1_uc010iwg.2_Missense_Mutation_p.K472N|GPBP1_uc003jri.3_Missense_Mutation_p.K281N|GPBP1_uc003jrj.3_Missense_Mutation_p.K444N|GPBP1_uc003jrk.3_Missense_Mutation_p.K459N|GPBP1_uc003jrl.3_RNA	p.K452N	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	12	2630	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	452					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	c.1356A>T	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135918	0.37728	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	6.07	2.37	0.29283	.	0.396859	0.33057	N	0.005336	T	0.33206	0.0855	L	0.46157	1.445	0.34828	D	0.739365	B;B;B;B	0.27416	0.178;0.0;0.0;0.0	B;B;B;B	0.28011	0.085;0.002;0.002;0.001	T	0.37663	-0.9696	10	0.52906	T	0.07	-6.0283	7.4488	0.27227	0.6586:0.273:0.0684:0.0	.	472;459;444;452	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	N	472;281;452;472;444;459;459	ENSP00000401596:K472N;ENSP00000421709:K281N;ENSP00000421202:K452N;ENSP00000403522:K472N;ENSP00000422337:K444N;ENSP00000264779:K459N;ENSP00000440090:K459N	ENSP00000264779:K459N	K	+	3	2	GPBP1	56594270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.286000	0.43496	0.498000	0.27948	0.533000	0.62120	AAA		PASS	0.388	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		84	61	84	61	---	---	---	---
APC	324	broad.mit.edu	37	5	112164609	112164609	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr5:112164609G>C	ENST00000457016.1	+	14	2063	c.1683G>C	c.(1681-1683)aaG>aaC	p.K561N	APC_ENST00000508376.2_Missense_Mutation_p.K561N|APC_ENST00000257430.4_Missense_Mutation_p.K561N|CTC-554D6.1_ENST00000520401.1_Missense_Mutation_p.R57T			P25054	APC_HUMAN	adenomatous polyposis coli	561	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T562fs*19(1)|p.K561N(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATAGTAAAAAGACGTTGCGAG	0.299		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		3	Substitution - Missense(1)|Unknown(1)|Insertion - Frameshift(1)	p.T562fs*19(1)|p.?(1)	large_intestine(1)|lung(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	GRCh37	CD011074	APC	D		c.(1681-1683)AAG>AAC		adenomatous polyposis coli							127.0	138.0	134.0					5																	112164609		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112164609G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1683G>C	5.37:g.112164609G>C	ENSP00000413133:p.Lys561Asn	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.K543N|APC_uc003kpz.3_Missense_Mutation_p.K561N|APC_uc003kpy.3_Missense_Mutation_p.K561N|APC_uc010jbz.2_Missense_Mutation_p.K278N|APC_uc010jca.2_Intron	p.K561N	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	14	2063	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	561			ARM 3.|Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1683G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633487	0.67015	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	L	0.54323	1.7	0.80722	D	1	P;P	0.47106	0.89;0.782	P;B	0.44477	0.451;0.371	T	0.66480	-0.5913	10	0.87932	D	0	-17.1947	12.9371	0.58320	0.0741:0.0:0.9259:0.0	.	563;561	Q4LE70;P25054	.;APC_HUMAN	N	561;543;561;561;561	ENSP00000413133:K561N;ENSP00000423224:K543N;ENSP00000257430:K561N;ENSP00000427089:K561N;ENSP00000423828:K561N	ENSP00000257430:K561N	K	+	3	2	APC	112192508	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.455000	0.73497	2.648000	0.89879	0.655000	0.94253	AAG		PASS	0.299	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		11	102	11	102	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112720749	112720749	+	Missense_Mutation	SNP	G	G	A	rs201988704	byFrequency	TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr5:112720749G>A	ENST00000408903.3	-	2	746	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.L111F(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTTGCAGAAAGATCTACTTCC	0.458																																						uc003kql.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(331-333)CTT>TTT		mutated in colorectal cancers isoform 1							159.0	152.0	154.0					5																	112720749		1909	4131	6040	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112720749G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.331C>T	5.37:g.112720749G>A	ENSP00000386227:p.Leu111Phe					MCC_uc003kqk.3_RNA	p.L111F	NM_001085377	NP_001078846	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	2	747	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	Error:Variant_position_missing_in_P23508_after_alignment					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.331C>T	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819826	0.71028	.	.	ENSG00000171444	ENST00000408903	T	0.36878	1.23	4.49	4.49	0.54785	.	0.135301	0.31415	N	0.007691	T	0.47060	0.1425	.	.	.	0.38226	D	0.940897	D	0.58620	0.983	P	0.50570	0.644	T	0.56038	-0.8045	9	0.52906	T	0.07	-0.7113	16.6524	0.85220	0.0:0.0:1.0:0.0	.	111	P23508-2	.	F	111	ENSP00000386227:L111F	ENSP00000386227:L111F	L	-	1	0	MCC	112748648	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	6.787000	0.75099	2.431000	0.82371	0.650000	0.86243	CTT		PASS	0.458	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		12	149	12	149	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175108	140175108	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr5:140175108G>A	ENST00000526136.1	+	1	559	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E187K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E187K	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E187K(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAAATGATGAACTAAGCGA	0.458																																						uc003lhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(559-561)GAA>AAA		protocadherin alpha 2 isoform 1 precursor							94.0	101.0	99.0					5																	140175108		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175108G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.559G>A	5.37:g.140175108G>A	ENSP00000431748:p.Glu187Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.E187K|PCDHA2_uc011czy.1_Missense_Mutation_p.E187K	p.E187K	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	665	+			187			Extracellular (Potential).|Cadherin 2.		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.559G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	7.555	0.663557	0.14710	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.19938	2.11;2.11;2.11	3.9	3.0	0.34707	Cadherin (4);Cadherin-like (1);	0.584437	0.13831	U	0.359725	T	0.25005	0.0607	L	0.50993	1.605	0.09310	N	0.999997	B;B;B	0.20164	0.042;0.029;0.042	B;B;B	0.32928	0.034;0.155;0.034	T	0.27365	-1.0076	10	0.48119	T	0.1	.	12.6035	0.56511	0.0:0.3186:0.6814:0.0	.	187;187;187	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	K	187	ENSP00000430584:E187K;ENSP00000367372:E187K;ENSP00000431748:E187K	ENSP00000367372:E187K	E	+	1	0	PCDHA2	140155292	0.978000	0.34361	0.015000	0.15790	0.373000	0.29922	3.545000	0.53648	0.945000	0.37605	0.557000	0.71058	GAA		PASS	0.458	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		15	178	15	178	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209869	140209869	+	Silent	SNP	G	G	T	rs536478075		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr5:140209869G>T	ENST00000529310.1	+	1	2307	c.2193G>T	c.(2191-2193)gcG>gcT	p.A731A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A731A(5)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGCGCGTGCACGGCGG	0.687																																						uc003lho.2																			5	Substitution - coding silent(5)	p.A731A(1)	haematopoietic_and_lymphoid_tissue(3)|lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2191-2193)GCG>GCT		protocadherin alpha 6 isoform 1 precursor							46.0	45.0	45.0					5																	140209869		2203	4298	6501	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209869G>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2193G>T	5.37:g.140209869G>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_uc011dab.1_Silent_p.A731A	p.A731A	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2220	+			731			Cytoplasmic (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2193G>T	CCDS47281.1																																																																																				PASS	0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		15	81	15	81	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141335730	141335730	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr5:141335730G>T	ENST00000231484.3	-	1	2897	c.1687C>A	c.(1687-1689)Cca>Aca	p.P563T	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P563T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACCTCTGGGGCATTATCA	0.587																																						uc003llx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1687-1689)CCA>ACA		protocadherin 12 precursor							61.0	57.0	58.0					5																	141335730		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335730G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1687C>A	5.37:g.141335730G>T	ENSP00000231484:p.Pro563Thr						p.P563T	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2898	-		all_hematologic(541;0.0999)	563			Extracellular (Potential).|Cadherin 5.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1687C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880013	0.72294	.	.	ENSG00000113555	ENST00000231484	T	0.66995	-0.24	5.16	5.16	0.70880	Cadherin (4);Cadherin conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93572	0.6905	10	0.87932	D	0	.	16.1952	0.82023	0.0:0.0:1.0:0.0	.	563	Q9NPG4	PCD12_HUMAN	T	563	ENSP00000231484:P563T	ENSP00000231484:P563T	P	-	1	0	PCDH12	141315914	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.826000	0.86716	2.685000	0.91497	0.655000	0.94253	CCA		PASS	0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		38	44	38	44	---	---	---	---
DUSP22	56940	broad.mit.edu	37	6	335143	335143	+	Silent	SNP	G	G	T	rs372273804		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:335143G>T	ENST00000344450.5	+	4	611	c.168G>T	c.(166-168)gcG>gcT	p.A56A	DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000419235.2_Silent_p.A56A|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605035.1_Intron	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	56					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A56A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCCCAGCAGCGGATTCACCAT	0.318																																						uc003msx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(166-168)GCG>GCT		dual specificity phosphatase 22							71.0	76.0	75.0					6																	335143		2203	4300	6503	SO:0001819	synonymous_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:335143G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.168G>T	6.37:g.335143G>T						DUSP22_uc011dhn.1_Silent_p.A56A|DUSP22_uc003msy.1_Silent_p.A13A	p.A56A	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	4	607	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	56					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	c.168G>T	CCDS4468.1																																																																																				PASS	0.318	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		5	130	5	130	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28294622	28294622	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:28294622C>T	ENST00000414429.1	-	8	1445	c.542G>A	c.(541-543)aGt>aAt	p.S181N	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S181N|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S181N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S181N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.S22N			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	181					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.S181N(1)									CTCAGGTATACTTTCACCATC	0.343																																						uc003nla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(541-543)AGT>AAT		zinc finger protein 323							44.0	47.0	46.0					6																	28294622		2200	4297	6497	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28294622C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.542G>A	6.37:g.28294622C>T	ENSP00000390076:p.Ser181Asn					ZNF323_uc003nld.2_Missense_Mutation_p.S181N|ZNF323_uc010jra.2_Missense_Mutation_p.S181N|ZNF323_uc003nlb.2_Missense_Mutation_p.S22N|ZNF323_uc010jrb.2_Missense_Mutation_p.S22N|ZNF323_uc003nlc.2_Missense_Mutation_p.S181N	p.S181N	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			4	942	-			181					Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.542G>A	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470800	0.26423	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431;ENST00000453745;ENST00000426434	T;T;T;T;T;T;T;T;T	0.49432	3.44;3.44;3.44;3.41;3.44;3.47;5.96;4.38;0.78	4.77	-2.23	0.06930	.	.	.	.	.	T	0.08980	0.0222	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.28839	-1.0031	9	0.16420	T	0.52	.	1.1804	0.01844	0.2549:0.2562:0.3436:0.1454	.	181	Q96LW9	ZN323_HUMAN	N	181;181;181;22;181;22;22;181;65	ENSP00000380050:S181N;ENSP00000413705:S181N;ENSP00000390076:S181N;ENSP00000402937:S22N;ENSP00000345339:S181N;ENSP00000391235:S22N;ENSP00000407529:S22N;ENSP00000389479:S181N;ENSP00000398680:S65N	ENSP00000345339:S181N	S	-	2	0	ZNF323	28402601	0.000000	0.05858	0.000000	0.03702	0.786000	0.44442	-2.404000	0.01045	-0.617000	0.05664	-0.499000	0.04595	AGT		PASS	0.343	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		34	105	34	105	---	---	---	---
NCR3	259197	broad.mit.edu	37	6	31556856	31556856	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:31556856G>A	ENST00000340027.5	-	4	857	c.594C>T	c.(592-594)gtC>gtT	p.V198V	NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	198					cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)		p.V198V(1)		cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						AGCCTCCTGGGACTGGGGGAA	0.597																																						uc003nuv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(592-594)GTC>GTT		natural cytotoxicity triggering receptor 3							30.0	28.0	29.0					6																	31556856		2203	4300	6503	SO:0001819	synonymous_variant	259197				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity	g.chr6:31556856G>A	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19077	protein-coding gene	gene with protein product		611550	"""lymphocyte antigen 117"""	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123	ENST00000340027.5:c.594C>T	6.37:g.31556856G>A						NCR3_uc003nuw.2_3'UTR	p.V198V	NM_147130	NP_667341	O14931	NCTR3_HUMAN			4	858	-			198			Cytoplasmic (Potential).		B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Silent	SNP	ENST00000340027.5	37	c.594C>T	CCDS34397.1																																																																																				PASS	0.597	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			16	85	16	85	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42214277	42214277	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:42214277C>A	ENST00000372922.4	-	14	3224	c.2662G>T	c.(2662-2664)Gac>Tac	p.D888Y	TRERF1_ENST00000354325.2_Missense_Mutation_p.D805Y|TRERF1_ENST00000340840.2_Missense_Mutation_p.D805Y|TRERF1_ENST00000372917.4_Missense_Mutation_p.D805Y|TRERF1_ENST00000541110.1_Missense_Mutation_p.D908Y	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	888	Interacts with CREBBP.|SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D888Y(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCCACTTGTCCGAACCTACA	0.373																																						uc003osd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2662-2664)GAC>TAC		transcriptional regulating factor 1							100.0	99.0	99.0					6																	42214277		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42214277C>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2662G>T	6.37:g.42214277C>A	ENSP00000362013:p.Asp888Tyr					TRERF1_uc011duq.1_Missense_Mutation_p.D805Y|TRERF1_uc003osb.2_Missense_Mutation_p.D644Y|TRERF1_uc003osc.2_Missense_Mutation_p.D644Y|TRERF1_uc003ose.2_Missense_Mutation_p.D908Y	p.D888Y	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		14	3225	-	Colorectal(47;0.196)		888			SANT.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.2662G>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986806	0.74589	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.15718	2.46;2.4;2.48;2.4;2.41	5.17	5.17	0.71159	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.56097	D	0.000027	T	0.41351	0.1155	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.999;0.972	T	0.46345	-0.9198	10	0.87932	D	0	-26.0168	17.8122	0.88619	0.0:1.0:0.0:0.0	.	805;908;888;644;644	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	Y	908;805;888;805;805	ENSP00000439689:D908Y;ENSP00000362008:D805Y;ENSP00000362013:D888Y;ENSP00000339438:D805Y;ENSP00000346285:D805Y	ENSP00000339438:D805Y	D	-	1	0	TRERF1	42322255	0.999000	0.42202	0.989000	0.46669	0.998000	0.95712	5.265000	0.65519	2.579000	0.87056	0.655000	0.94253	GAC		PASS	0.373	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		43	124	43	124	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	17					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A17V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGCTTTTTGCCCACATAGCA	0.348																																						uc010jzh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(49-51)GCC>GTC		meprin A alpha precursor							218.0	199.0	205.0					6																	46761185		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46761185C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.50C>T	6.37:g.46761185C>T	ENSP00000230588:p.Ala17Val					MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.A17V|MEP1A_uc011dwi.1_5'UTR	p.A17V	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		1	92	+			17					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.50C>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	3.305	-0.142020	0.06669	.	.	ENSG00000112818	ENST00000230588	T	0.24151	1.87	5.21	-0.00269	0.14028	.	0.705821	0.14141	N	0.338738	T	0.04272	0.0118	N	0.25890	0.77	0.09310	N	0.999995	B;B	0.12013	0.004;0.005	B;B	0.10450	0.005;0.002	T	0.45673	-0.9245	10	0.11794	T	0.64	-3.8338	7.5808	0.27963	0.0:0.4834:0.0:0.5166	.	17;17	B7ZL91;Q16819	.;MEP1A_HUMAN	V	17	ENSP00000230588:A17V	ENSP00000230588:A17V	A	+	2	0	MEP1A	46869144	0.004000	0.15560	0.783000	0.31826	0.135000	0.20990	-0.290000	0.08354	-0.016000	0.14127	0.655000	0.94253	GCC		PASS	0.348	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		7	816	7	816	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46803248	46803248	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:46803248C>T	ENST00000230588.4	+	13	2055	c.2046C>T	c.(2044-2046)gaC>gaT	p.D682D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	682	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D682D(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCCAAAATGACGGCATCTGTG	0.607																																						uc010jzh.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(2044-2046)GAC>GAT		meprin A alpha precursor							38.0	31.0	33.0					6																	46803248		2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46803248C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2046C>T	6.37:g.46803248C>T						MEP1A_uc011dwg.1_Silent_p.D404D|MEP1A_uc011dwh.1_Silent_p.D710D|MEP1A_uc011dwi.1_Silent_p.D582D	p.D682D	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		13	2088	+			682			EGF-like.|Extracellular (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.2046C>T	CCDS4918.1																																																																																				PASS	0.607	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		236	31	236	31	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51774096	51774096	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:51774096C>A	ENST00000371117.3	-	40	6942	c.6667G>T	c.(6667-6669)Gtg>Ttg	p.V2223L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2223L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2223					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.V2223L(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)					ATAGCTCCCACCAGAGTGAGT	0.502																																						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.(6667-6669)GTG>TTG		fibrocystin isoform 1							130.0	122.0	125.0					6																	51774096		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.chr6:51774096C>A	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.6667G>T	6.37:g.51774096C>A	ENSP00000360158:p.Val2223Leu					PKHD1_uc010jzn.1_Missense_Mutation_p.V248L|PKHD1_uc003pai.2_Missense_Mutation_p.V2223L	p.V2223L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			40	6943	-	Lung NSC(77;0.0605)		2223			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6667G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249298	0.22880	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87334	-2.04;-2.24	5.8	4.76	0.60689	Pectin lyase fold (1);	0.315336	0.26029	N	0.026765	T	0.64193	0.2576	L	0.33189	0.99	0.26786	N	0.969491	P;P;P	0.35844	0.524;0.519;0.524	B;B;B	0.31245	0.058;0.126;0.058	T	0.56878	-0.7906	10	0.10111	T	0.7	.	12.6	0.56491	0.0:0.9085:0.0:0.0915	.	2223;2223;2223	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	2223	ENSP00000360158:V2223L;ENSP00000341097:V2223L	ENSP00000341097:V2223L	V	-	1	0	PKHD1	51882055	0.967000	0.33354	0.995000	0.50966	0.679000	0.39708	1.330000	0.33781	2.730000	0.93505	0.563000	0.77884	GTG		PASS	0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		49	189	49	189	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51924782	51924782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:51924782G>A	ENST00000371117.3	-	15	1452	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	AL590391.1_ENST00000408630.2_RNA|PKHD1_ENST00000340994.4_Nonsense_Mutation_p.Q393*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	393					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.Q393*(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)					CTATCTGCCTGAATCCAGAAA	0.453																																						uc003pah.1																			2	Substitution - Nonsense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(1177-1179)CAG>TAG		fibrocystin isoform 1							110.0	97.0	101.0					6																	51924782		2203	4300	6503	SO:0001587	stop_gained	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.chr6:51924782G>A	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.1177C>T	6.37:g.51924782G>A	ENSP00000360158:p.Gln393*					PKHD1_uc003pai.2_Nonsense_Mutation_p.Q393*	p.Q393*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			15	1453	-	Lung NSC(77;0.0605)		393			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.1177C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	41	8.910572	0.99000	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	18.6552	0.91450	0.0:0.0:1.0:0.0	.	.	.	.	X	393	.	ENSP00000341097:Q393X	Q	-	1	0	PKHD1	52032741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.449000	0.73473	2.719000	0.93026	0.650000	0.86243	CAG		PASS	0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		29	72	29	72	---	---	---	---
BMP5	653	broad.mit.edu	37	6	55639028	55639028	+	Missense_Mutation	SNP	G	G	T	rs41271330	byFrequency	TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:55639028G>T	ENST00000370830.3	-	4	1544	c.846C>A	c.(844-846)aaC>aaA	p.N282K	BMP5_ENST00000446683.2_Missense_Mutation_p.N282K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	282					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.N282K(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAGATTTTACGTTGATACTGC	0.423																																						uc003pcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(844-846)AAC>AAA		bone morphogenetic protein 5 preproprotein							165.0	146.0	153.0					6																	55639028		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55639028G>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.846C>A	6.37:g.55639028G>T	ENSP00000359866:p.Asn282Lys					BMP5_uc011dxf.1_Missense_Mutation_p.N282K	p.N282K	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1558	-	Lung NSC(77;0.0462)		282					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.846C>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382369	0.24944	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.64260	-0.09;-0.09	5.74	-3.82	0.04281	Transforming growth factor-beta, N-terminal (1);	0.167852	0.64402	D	0.000006	T	0.40619	0.1124	L	0.46157	1.445	0.40144	D	0.976869	B;B	0.31730	0.337;0.201	B;B	0.39562	0.239;0.303	T	0.36359	-0.9751	10	0.34782	T	0.22	.	14.8506	0.70295	0.837:0.0:0.163:0.0	.	282;282	B4E0Y4;P22003	.;BMP5_HUMAN	K	282	ENSP00000359866:N282K;ENSP00000391818:N282K	ENSP00000359866:N282K	N	-	3	2	BMP5	55746987	0.991000	0.36638	0.747000	0.31113	0.138000	0.21146	0.326000	0.19646	-0.661000	0.05345	-0.137000	0.14449	AAC		PASS	0.423	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			42	146	42	146	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838774	100838774	+	Silent	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:100838774G>T	ENST00000369208.3	-	12	2546	c.1764C>A	c.(1762-1764)ccC>ccA	p.P588P	SIM1_ENST00000262901.4_Silent_p.P588P			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	588	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P588P(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTTGGTCTGAGGGGGCTTTCC	0.458																																						uc003pqj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1762-1764)CCC>CCA		single-minded homolog 1							78.0	77.0	78.0					6																	100838774		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838774G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1764C>A	6.37:g.100838774G>T						SIM1_uc010kcu.2_Silent_p.P588P	p.P588P	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1971	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	588			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1764C>A	CCDS5045.1																																																																																				PASS	0.458	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		45	155	45	155	---	---	---	---
MAN1A1	4121	broad.mit.edu	37	6	119525941	119525941	+	Missense_Mutation	SNP	G	G	C	rs140726044		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:119525941G>C	ENST00000368468.3	-	7	1540	c.1099C>G	c.(1099-1101)Ccc>Gcc	p.P367A		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	367					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.P367A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCAAAGATGGGGTTTCCTGAT	0.458																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1099-1101)CCC>GCC		mannosidase, alpha, class 1A, member 1							130.0	123.0	126.0					6																	119525941		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119525941G>C	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1099C>G	6.37:g.119525941G>C	ENSP00000357453:p.Pro367Ala						p.P367A	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	7	1541	-		all_epithelial(87;0.173)	367			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1099C>G	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503695	0.44558	.	.	ENSG00000111885	ENST00000368468	T	0.72282	-0.64	5.37	3.53	0.40419	.	0.176841	0.50627	D	0.000112	T	0.50718	0.1632	L	0.59912	1.85	0.80722	D	1	B	0.16603	0.018	B	0.20955	0.032	T	0.51068	-0.8752	10	0.45353	T	0.12	-13.7053	11.1897	0.48677	0.1549:0.0:0.8451:0.0	.	367	P33908	MA1A1_HUMAN	A	367	ENSP00000357453:P367A	ENSP00000357453:P367A	P	-	1	0	MAN1A1	119567640	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	5.681000	0.68175	0.584000	0.29591	0.591000	0.81541	CCC		PASS	0.458	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		96	136	96	136	---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210895	134210895	+	Silent	SNP	G	G	T	rs377208652		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:134210895G>T	ENST00000367882.4	+	1	620	c.360G>T	c.(358-360)acG>acT	p.T120T	RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|TCF21_ENST00000237316.3_Silent_p.T120T|RP3-323P13.2_ENST00000606544.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	120	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T120T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGCTGGACACGCTCAGGCTGG	0.617																																						uc003qei.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)ACG>ACT		transcription factor 21							89.0	87.0	88.0					6																	134210895		2199	4299	6498	SO:0001819	synonymous_variant	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210895G>T	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.360G>T	6.37:g.134210895G>T						uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.T120T	p.T120T	NM_003206	NP_003197	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	636	+	Colorectal(23;0.221)|Breast(56;0.247)		120			Helix-loop-helix motif.		E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	ENST00000367882.4	37	c.360G>T	CCDS5167.1																																																																																				PASS	0.617	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		130	182	130	182	---	---	---	---
MAP3K5	4217	broad.mit.edu	37	6	136926462	136926462	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:136926462G>C	ENST00000359015.4	-	19	2924	c.2564C>G	c.(2563-2565)cCa>cGa	p.P855R	MAP3K5_ENST00000355845.4_Missense_Mutation_p.P102R	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	855	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.P855R(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GTAGCCTCTTGGTCCTTTATC	0.403																																						uc003qhc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(2563-2565)CCA>CGA		mitogen-activated protein kinase kinase kinase							106.0	101.0	102.0					6																	136926462		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136926462G>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2564C>G	6.37:g.136926462G>C	ENSP00000351908:p.Pro855Arg					MAP3K5_uc011edj.1_Missense_Mutation_p.P102R|MAP3K5_uc011edk.1_Missense_Mutation_p.P700R	p.P855R	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	19	2925	-	Colorectal(23;0.24)		855			Protein kinase.		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.2564C>G	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540314	0.85917	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.63913	-0.07;-0.07	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.102265	0.64402	D	0.000002	T	0.67664	0.2917	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.97;1.0	T	0.64689	-0.6348	10	0.38643	T	0.18	.	19.3559	0.94414	0.0:0.0:1.0:0.0	.	935;855	Q59GL6;Q99683	.;M3K5_HUMAN	R	855;102;935	ENSP00000351908:P855R;ENSP00000348104:P102R	ENSP00000348104:P102R	P	-	2	0	MAP3K5	136968155	1.000000	0.71417	0.953000	0.39169	0.983000	0.72400	9.420000	0.97426	2.663000	0.90544	0.655000	0.94253	CCA		PASS	0.403	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			65	69	65	69	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143094104	143094104	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:143094104C>T	ENST00000367604.1	-	4	2411	c.1772G>A	c.(1771-1773)aGa>aAa	p.R591K	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R591K|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R591K			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	591					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.R591K(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGCTTGTCTTCTTAGCATGCG	0.527																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1771-1773)AGA>AAA		human immunodeficiency virus type I enhancer							91.0	90.0	90.0					6																	143094104		2019	4189	6208	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143094104C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1772G>A	6.37:g.143094104C>T	ENSP00000356576:p.Arg591Lys						p.R591K	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	2515	-			591					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.1772G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371881	0.24857	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.04758	3.56;3.56;3.56	5.48	5.48	0.80851	.	0.094927	0.64402	D	0.000002	T	0.01592	0.0051	L	0.37630	1.12	0.09310	N	0.999999	P	0.34864	0.473	B	0.28553	0.091	T	0.47911	-0.9080	10	0.07030	T	0.85	-7.615	19.3471	0.94367	0.0:1.0:0.0:0.0	.	591	P31629	ZEP2_HUMAN	K	591	ENSP00000356576:R591K;ENSP00000356575:R591K;ENSP00000012134:R591K	ENSP00000012134:R591K	R	-	2	0	HIVEP2	143135797	0.833000	0.29383	0.009000	0.14445	0.522000	0.34438	2.216000	0.42871	2.566000	0.86566	0.655000	0.94253	AGA		PASS	0.527	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			4	265	4	265	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158502168	158502168	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr6:158502168A>C	ENST00000355585.4	+	19	2670	c.2595A>C	c.(2593-2595)gaA>gaC	p.E865D	SYNJ2_ENST00000367122.2_Missense_Mutation_p.E865D|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E865D|SYNJ2_ENST00000367112.1_5'UTR	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	865					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.E865D(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGGAGGTGGAAGTTCAGGAAG	0.572																																						uc003qqx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2593-2595)GAA>GAC		synaptojanin 2							139.0	132.0	135.0					6																	158502168		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158502168A>C	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2595A>C	6.37:g.158502168A>C	ENSP00000347792:p.Glu865Asp					SYNJ2_uc003qqw.1_Missense_Mutation_p.E865D|SYNJ2_uc003qqy.1_Missense_Mutation_p.E578D|SYNJ2_uc003qqz.1_Missense_Mutation_p.E482D|SYNJ2_uc003qra.1_Missense_Mutation_p.E208D	p.E865D	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	19	2670	+			865			Catalytic (By similarity).		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.2595A>C	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718679	0.30503	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.95238	-3.65;-3.65;-3.65	5.37	-1.33	0.09172	Endonuclease/exonuclease/phosphatase (1);Domain of unknown function DUF1866 (1);Inositol polyphosphate-related phosphatase (1);	0.098651	0.44483	N	0.000453	D	0.87120	0.6098	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.82462	-0.0445	10	0.02654	T	1	.	5.6625	0.17676	0.5425:0.1356:0.3219:0.0	.	865;865	O15056;O15056-3	SYNJ2_HUMAN;.	D	865	ENSP00000356089:E865D;ENSP00000356088:E865D;ENSP00000347792:E865D	ENSP00000347792:E865D	E	+	3	2	SYNJ2	158422156	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	1.226000	0.32563	2.667000	0.90743	0.655000	0.94253	GAA		PASS	0.572	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			4	172	4	172	---	---	---	---
AGMO	392636	broad.mit.edu	37	7	15427122	15427122	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:15427122G>C	ENST00000342526.3	-	9	1035	c.866C>G	c.(865-867)cCt>cGt	p.P289R		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	289					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.P289R(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GAAGAATCCAGGTGTGGCCCA	0.358																																						uc003stb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)CCT>CGT		transmembrane protein 195							80.0	85.0	84.0					7																	15427122		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15427122G>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.866C>G	7.37:g.15427122G>C	ENSP00000341662:p.Pro289Arg						p.P289R	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			9	1036	-			289					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.866C>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574449	0.45902	.	.	ENSG00000187546	ENST00000342526	T	0.30714	1.52	5.52	5.52	0.82312	.	0.182885	0.48767	D	0.000173	T	0.25121	0.0610	L	0.33293	1	0.39901	D	0.973909	P	0.35124	0.485	B	0.32677	0.15	T	0.05649	-1.0872	10	0.13108	T	0.6	-24.4653	19.4557	0.94886	0.0:0.0:1.0:0.0	.	289	Q6ZNB7	ALKMO_HUMAN	R	289	ENSP00000341662:P289R	ENSP00000341662:P289R	P	-	2	0	AGMO	15393647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.499000	0.53310	2.599000	0.87857	0.655000	0.94253	CCT		PASS	0.358	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		6	213	6	213	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20698286	20698286	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:20698286C>G	ENST00000404938.2	+	14	2346	c.1694C>G	c.(1693-1695)gCt>gGt	p.A565G	ABCB5_ENST00000443026.2_Missense_Mutation_p.A120G|ABCB5_ENST00000406935.1_Missense_Mutation_p.A120G|ABCB5_ENST00000258738.6_Missense_Mutation_p.A120G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	565	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.A120G(2)|p.A565G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCTGTTCAAGCTGCACTGGAG	0.408																																						uc003suw.3																			3	Substitution - Missense(3)		lung(3)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(358-360)GCT>GGT		ATP-binding cassette, sub-family B, member 5							93.0	81.0	86.0					7																	20698286		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20698286C>G	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1694C>G	7.37:g.20698286C>G	ENSP00000384881:p.Ala565Gly					ABCB5_uc010kuh.2_Missense_Mutation_p.A565G|ABCB5_uc003suv.3_Missense_Mutation_p.A120G|ABCB5_uc011jyi.1_Missense_Mutation_p.A120G	p.A120G	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			5	905	+			120			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.359C>G	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537576	0.27475	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	T;D;D;T	0.90563	-1.38;-2.69;-2.69;-1.38	5.58	3.66	0.41972	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.208639	0.31542	N	0.007466	D	0.87873	0.6287	L	0.58925	1.835	0.30946	N	0.725326	B;B;P;B	0.39831	0.0;0.018;0.69;0.0	B;B;B;B	0.40741	0.0;0.065;0.339;0.001	D	0.86716	0.1939	10	0.46703	T	0.11	.	10.1247	0.42643	0.1399:0.7851:0.0:0.075	.	120;565;120;120	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	G	565;120;120;120	ENSP00000384881:A565G;ENSP00000406730:A120G;ENSP00000383899:A120G;ENSP00000258738:A120G	ENSP00000258738:A120G	A	+	2	0	ABCB5	20664811	0.994000	0.37717	1.000000	0.80357	0.479000	0.33129	3.002000	0.49496	2.788000	0.95919	0.650000	0.86243	GCT		PASS	0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		36	77	36	77	---	---	---	---
WIPF3	644150	broad.mit.edu	37	7	29928944	29928944	+	Silent	SNP	G	G	A	rs571269176		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:29928944G>A	ENST00000409290.1	+	6	1272	c.1272G>A	c.(1270-1272)acG>acA	p.T424T	WIPF3_ENST00000409123.1_Silent_p.T424T|WIPF3_ENST00000242140.5_Silent_p.T424T	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	424					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)		p.T424T(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CTAAATTCACGTTCCATTCTG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		21651	0.0		0.0	False		,,,				2504	0.001					uc003taj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1270-1272)ACG>ACA		WAS/WASL interacting protein family, member 3							140.0	129.0	132.0					7																	29928944		1924	4139	6063	SO:0001819	synonymous_variant	644150							g.chr7:29928944G>A	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1272G>A	7.37:g.29928944G>A							p.T424T	NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN			6	1272	+			424					B8ZZV2	Silent	SNP	ENST00000409290.1	37	c.1272G>A	CCDS56472.1																																																																																				PASS	0.438	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			30	79	30	79	---	---	---	---
TBX20	57057	broad.mit.edu	37	7	35289660	35289660	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:35289660C>A	ENST00000408931.3	-	2	809	c.283G>T	c.(283-285)Gag>Tag	p.E95*		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	95					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E95*(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCCATTTCCTCACTGGGGATG	0.582																																						uc011kas.1																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(283-285)GAG>TAG		T-box transcription factor TBX20							56.0	50.0	52.0					7																	35289660		2203	4300	6503	SO:0001587	stop_gained	57057					nucleus	DNA binding	g.chr7:35289660C>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.283G>T	7.37:g.35289660C>A	ENSP00000386170:p.Glu95*						p.E95*	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			2	294	-			95					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Nonsense_Mutation	SNP	ENST00000408931.3	37	c.283G>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	42	9.784466	0.99263	.	.	ENSG00000164532	ENST00000408931	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.6056	0.95580	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000386170:E95X	E	-	1	0	TBX20	35256185	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	7.783000	0.85696	2.625000	0.88918	0.655000	0.94253	GAG		PASS	0.582	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		31	74	31	74	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42005053	42005053	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:42005053C>A	ENST00000395925.3	-	15	3702	c.3618G>T	c.(3616-3618)agG>agT	p.R1206S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1206					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1206S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGGCCCGCTCCTCAAGGGGT	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3616-3618)AGG>AGT		GLI-Kruppel family member GLI3							45.0	55.0	52.0					7																	42005053		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005053C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3618G>T	7.37:g.42005053C>A	ENSP00000379258:p.Arg1206Ser					GLI3_uc011kbg.1_Missense_Mutation_p.R1147S	p.R1206S	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3709	-			1206					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3618G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763668	0.31228	.	.	ENSG00000106571	ENST00000395925	T	0.13901	2.55	5.7	5.7	0.88788	.	0.289195	0.40728	N	0.001037	T	0.08626	0.0214	N	0.22421	0.69	0.49213	D	0.999764	B	0.16396	0.017	B	0.13407	0.009	T	0.21109	-1.0255	10	0.09084	T	0.74	.	10.8685	0.46869	0.0:0.8865:0.0:0.1135	.	1206	P10071	GLI3_HUMAN	S	1206	ENSP00000379258:R1206S	ENSP00000379258:R1206S	R	-	3	2	GLI3	41971578	0.784000	0.28713	0.107000	0.21349	0.010000	0.07245	1.077000	0.30741	2.679000	0.91253	0.655000	0.94253	AGG		PASS	0.662	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		98	156	98	156	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92761600	92761600	+	Missense_Mutation	SNP	C	C	G	rs372780313		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:92761600C>G	ENST00000318238.4	-	5	4901	c.3685G>C	c.(3685-3687)Gtg>Ctg	p.V1229L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.V1229L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.V1229L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1229					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.V1229L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAAATTGCACCATATGTTTT	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		19300	0.0		0.001	False		,,,				2504	0.0					uc003umh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3685-3687)GTG>CTG		sterile alpha motif domain containing 9-like		C	LEU/VAL	0,4406		0,0,2203	86.0	80.0	82.0		3685	3.9	0.2	7		82	1,8597	1.2+/-3.3	0,1,4298	no	missense	SAMD9L	NM_152703.2	32	0,1,6501	GG,GC,CC		0.0116,0.0,0.0077	benign	1229/1585	92761600	1,13003	2203	4299	6502	SO:0001583	missense	219285							g.chr7:92761600C>G	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3685G>C	7.37:g.92761600C>G	ENSP00000326247:p.Val1229Leu					SAMD9L_uc003umj.1_Missense_Mutation_p.V1229L|SAMD9L_uc003umi.1_Missense_Mutation_p.V1229L|SAMD9L_uc010lfb.1_Missense_Mutation_p.V1229L|SAMD9L_uc003umk.1_Missense_Mutation_p.V1229L|SAMD9L_uc010lfc.1_Missense_Mutation_p.V1229L|SAMD9L_uc010lfd.1_Missense_Mutation_p.V1229L|SAMD9L_uc011khx.1_Intron	p.V1229L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4901	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1229					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3685G>C	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	0.687	-0.795884	0.02862	0.0	1.16E-4	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.21191	2.02;2.02;2.02	4.77	3.89	0.44902	.	0.959764	0.08608	N	0.920371	T	0.10981	0.0268	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.14578	0.011	T	0.40627	-0.9553	10	0.06099	T	0.92	-2.8428	4.3586	0.11190	0.0:0.589:0.1828:0.2283	.	1229	Q8IVG5	SAM9L_HUMAN	L	1229	ENSP00000326247:V1229L;ENSP00000405760:V1229L;ENSP00000408796:V1229L	ENSP00000326247:V1229L	V	-	1	0	SAMD9L	92599536	0.000000	0.05858	0.195000	0.23364	0.032000	0.12392	-0.498000	0.06420	1.373000	0.46208	0.467000	0.42956	GTG		PASS	0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		67	141	67	141	---	---	---	---
ZNF655	79027	broad.mit.edu	37	7	99170395	99170395	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:99170395C>T	ENST00000394163.2	+	3	847	c.664C>T	c.(664-666)Cat>Tat	p.H222Y	GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Missense_Mutation_p.H257Y|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.H257Y|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.H222Y	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	222					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H257Y(1)|p.H222Y(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAAAATTTTCCATCAGAGCTC	0.393																																						uc003urh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(664-666)CAT>TAT		zinc finger protein 655 isoform a							28.0	30.0	29.0					7																	99170395		2186	4292	6478	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170395C>T	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.664C>T	7.37:g.99170395C>T	ENSP00000377718:p.His222Tyr					ZNF655_uc010lga.2_Missense_Mutation_p.H257Y|ZNF655_uc010lgc.2_Missense_Mutation_p.H257Y|ZNF655_uc003urj.2_Missense_Mutation_p.H222Y|ZNF655_uc003urk.2_Missense_Mutation_p.H59Y|ZNF655_uc010lgd.2_Missense_Mutation_p.H59Y	p.H222Y	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1057	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		222			C2H2-type 1.		A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.664C>T	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035996	0.35893	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.34	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.293726	0.24783	N	0.035629	T	0.05090	0.0136	L	0.31157	0.91	0.32433	N	0.547753	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.12344	-1.0551	10	0.37606	T	0.19	-1.5895	2.1924	0.03903	0.1543:0.5255:0.1497:0.1705	.	257;222	Q8N720-3;Q8N720	.;ZN655_HUMAN	Y	222;257;257;222	ENSP00000252713:H222Y;ENSP00000419135:H257Y;ENSP00000393876:H257Y;ENSP00000377718:H222Y	ENSP00000252713:H222Y	H	+	1	0	ZNF655	99008331	0.000000	0.05858	0.999000	0.59377	0.864000	0.49448	0.269000	0.18589	0.913000	0.36797	0.650000	0.86243	CAT		PASS	0.393	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		9	36	9	36	---	---	---	---
ZSCAN25	221785	broad.mit.edu	37	7	99221744	99221744	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:99221744C>T	ENST00000394152.2	+	7	1073	c.746C>T	c.(745-747)cCa>cTa	p.P249L	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P249L|ZSCAN25_ENST00000262941.6_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	249					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.P249L(1)									CATGTGACCCCAGCCCAGATA	0.537																																						uc003url.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(745-747)CCA>CTA		zinc finger and SCAN domain containing 25							124.0	126.0	125.0					7																	99221744		2203	4300	6503	SO:0001583	missense	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99221744C>T	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.746C>T	7.37:g.99221744C>T	ENSP00000377708:p.Pro249Leu					ZNF498_uc003urm.1_Missense_Mutation_p.P85L|ZNF498_uc010lge.1_Missense_Mutation_p.P85L|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_Missense_Mutation_p.P33L	p.P249L	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			7	1073	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		249					A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.746C>T	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511971	0.64522	.	.	ENSG00000197037	ENST00000394152;ENST00000334715	T;T	0.00902	5.56;5.56	5.29	5.29	0.74685	Krueppel-associated box (1);	0.000000	0.49305	D	0.000159	T	0.03390	0.0098	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70385	-0.4886	10	0.21540	T	0.41	-8.7643	17.2525	0.87046	0.0:1.0:0.0:0.0	.	249	Q6NSZ9	ZN498_HUMAN	L	249	ENSP00000377708:P249L;ENSP00000334800:P249L	ENSP00000334800:P249L	P	+	2	0	ZNF498	99059680	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	0.128000	0.15810	2.865000	0.98341	0.655000	0.94253	CCA		PASS	0.537	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		158	276	158	276	---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100244174	100244174	+	Splice_Site	SNP	C	C	A	rs373802349		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:100244174C>A	ENST00000160382.5	-	12	1219	c.1113G>T	c.(1111-1113)ccG>ccT	p.P371P		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	371					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)	p.P371P(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGCTCCTACCGGTGGGGTCT	0.607																																						uc003uvy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1111-1113)CCG>CCT		actin-like 6B							48.0	53.0	51.0					7																	100244174		2203	4300	6503	SO:0001630	splice_region_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100244174C>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.1113+1G>T	7.37:g.100244174C>A						ACTL6B_uc003uvx.1_Silent_p.P162P|ACTL6B_uc003uvz.2_RNA	p.P371P	NM_016188	NP_057272	O94805	ACL6B_HUMAN			12	1220	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		371					A4D2D0|O75421	Silent	SNP	ENST00000160382.5	37	c.1113G>T	CCDS5702.1																																																																																				PASS	0.607	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188	Silent	4	186	4	186	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100361796	100361796	+	RNA	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:100361796C>A	ENST00000348028.3	+	0	4409				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1415H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGTGAAGCCCTGGAGGGAA	0.602																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4243-4245)CCC>CAC		zonadhesin isoform 3							16.0	17.0	17.0					7																	100361796		2104	4237	6341			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100361796C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361796C>A						ZAN_uc003uwk.2_Missense_Mutation_p.P1415H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Intron	p.P1415H	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		22	4409	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1415			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.4244C>A		.	.	.	.	.	.	.	.	.	.	C	14.38	2.519109	0.44866	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.76839	-1.05;-1.05;-1.05	4.01	4.01	0.46588	Uncharacterised domain, cysteine-rich (2);	0.226566	0.22886	N	0.054442	T	0.78811	0.4342	M	0.66506	2.035	0.80722	D	1	P;P	0.47409	0.872;0.895	B;P	0.46796	0.392;0.527	T	0.81618	-0.0851	10	0.62326	D	0.03	.	12.3545	0.55167	0.0:1.0:0.0:0.0	.	1415;1415	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	1415	ENSP00000445943:P1415H;ENSP00000445091:P1415H;ENSP00000444427:P1415H	ENSP00000423579:P1415H	P	+	2	0	ZAN	100199732	0.000000	0.05858	1.000000	0.80357	0.338000	0.28826	1.108000	0.31123	2.167000	0.68274	0.561000	0.74099	CCC		PASS	0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		18	26	18	26	---	---	---	---
LRWD1	222229	broad.mit.edu	37	7	102108810	102108810	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:102108810C>T	ENST00000292616.5	+	7	1057	c.905C>T	c.(904-906)cCg>cTg	p.P302L	MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	302					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.P302L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCCTTCGAGCCGGCCTGGGAG	0.652																																						uc003uzn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(904-906)CCG>CTG		leucine-rich repeats and WD repeat domain							20.0	22.0	21.0					7																	102108810		2199	4293	6492	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102108810C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.905C>T	7.37:g.102108810C>T	ENSP00000292616:p.Pro302Leu					LRWD1_uc003uzo.2_Missense_Mutation_p.P150L	p.P302L	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN			7	1043	+			302					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.905C>T	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613148	0.66672	.	.	ENSG00000161036	ENST00000292616	T	0.76839	-1.05	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.097411	0.64402	D	0.000001	D	0.87067	0.6085	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87778	0.2610	10	0.62326	D	0.03	-25.3878	17.5585	0.87900	0.0:1.0:0.0:0.0	.	302	Q9UFC0	LRWD1_HUMAN	L	302	ENSP00000292616:P302L	ENSP00000292616:P302L	P	+	2	0	LRWD1	101895815	1.000000	0.71417	0.918000	0.36340	0.098000	0.18820	5.101000	0.64566	2.619000	0.88677	0.561000	0.74099	CCG		PASS	0.652	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		4	23	4	23	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106513331	106513331	+	Silent	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:106513331C>A	ENST00000359195.3	+	4	2545	c.2235C>A	c.(2233-2235)gtC>gtA	p.V745V	PIK3CG_ENST00000496166.1_Silent_p.V745V|PIK3CG_ENST00000440650.2_Silent_p.V745V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	745					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V745V(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TACAAAAAGTCACCCTTGATA	0.458																																						uc003vdv.3																			1	Substitution - coding silent(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2233-2235)GTC>GTA		phosphoinositide-3-kinase, catalytic, gamma							115.0	113.0	114.0					7																	106513331		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513331C>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2235C>A	7.37:g.106513331C>A						PIK3CG_uc003vdu.2_Silent_p.V745V|PIK3CG_uc003vdw.2_Silent_p.V745V	p.V745V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			4	2320	+			745					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2235C>A	CCDS5739.1																																																																																				PASS	0.458	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			67	102	67	102	---	---	---	---
TAS2R38	5726	broad.mit.edu	37	7	141672606	141672606	+	Missense_Mutation	SNP	G	G	T	rs535708807		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:141672606G>T	ENST00000547270.1	-	1	967	c.884C>A	c.(883-885)gCc>gAc	p.A295D		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	295					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.A295D(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GATCAGGATGGCTGCATGCCC	0.542																																						uc003vwx.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(883-885)GCC>GAC		taste receptor, type 2, member 38							80.0	71.0	74.0					7																	141672606		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672606G>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.884C>A	7.37:g.141672606G>T	ENSP00000448219:p.Ala295Asp						p.A295D	NM_176817	NP_789787	P59533	T2R38_HUMAN			1	968	-	Melanoma(164;0.0171)		295			Helical; Name=7; (Potential).		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.884C>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677987	0.29783	.	.	ENSG00000257138	ENST00000547270	T	0.37411	1.2	5.01	-2.2	0.06994	.	1.658040	0.03133	N	0.165437	T	0.52677	0.1749	M	0.63428	1.95	0.09310	N	1	D	0.55385	0.971	P	0.59643	0.861	T	0.53767	-0.8392	10	0.54805	T	0.06	.	10.2644	0.43447	0.7497:0.0:0.2503:0.0	.	295	P59533	T2R38_HUMAN	D	295	ENSP00000448219:A295D	ENSP00000331291:A295D	A	-	2	0	TAS2R38	141319075	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	1.358000	0.34102	-0.283000	0.09115	-0.150000	0.13652	GCC		PASS	0.542	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		67	123	67	123	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149431068	149431068	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr7:149431068G>C	ENST00000485033.2	+	15	2842	c.2842G>C	c.(2842-2844)Gtg>Ctg	p.V948L	KRBA1_ENST00000319551.8_Missense_Mutation_p.V948L|KRBA1_ENST00000255992.10_Missense_Mutation_p.V1008L|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	1009	Pro-rich.							p.V1008L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGGGAGGAGTGCAGAGGGC	0.642																																						uc003wfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3025-3027)GTG>CTG		KRAB A domain containing 1							13.0	16.0	15.0					7																	149431068		1964	4150	6114	SO:0001583	missense	84626							g.chr7:149431068G>C	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2842G>C	7.37:g.149431068G>C	ENSP00000420112:p.Val948Leu					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.V616L	p.V1009L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3424	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1009					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.3025G>C		.	.	.	.	.	.	.	.	.	.	G	15.45	2.837873	0.50951	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.30981	1.51;1.51;1.51	4.6	0.00525	0.14061	.	1.125260	0.07124	N	0.844318	T	0.13543	0.0328	.	.	.	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.12156	0.007;0.004	T	0.31280	-0.9949	9	0.14656	T	0.56	-3.8292	1.8457	0.03158	0.2147:0.1671:0.463:0.1552	.	948;1009	E7ENE9;A5PL33	.;KRBA1_HUMAN	L	1008;948;948	ENSP00000255992:V1008L;ENSP00000317165:V948L;ENSP00000420112:V948L	ENSP00000255992:V1008L	V	+	1	0	KRBA1	149062001	0.000000	0.05858	0.000000	0.03702	0.810000	0.45777	-0.162000	0.10012	0.056000	0.16144	0.655000	0.94253	GTG		PASS	0.642	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		19	20	19	20	---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1882037	1882037	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:1882037A>T	ENST00000398564.1	+	26	3226	c.3226A>T	c.(3226-3228)Atg>Ttg	p.M1076L	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.M1047L|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.M1075L|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.M1051L|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.M1013L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1076					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M1076L(1)|p.M828L(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCTACTCATGATGGAAGACAC	0.443																																						uc003wpr.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(3151-3153)ATG>TTG		Rho guanine nucleotide exchange factor 10							155.0	147.0	150.0					8																	1882037		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1882037A>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3226A>T	8.37:g.1882037A>T	ENSP00000381571:p.Met1076Leu					ARHGEF10_uc003wps.2_Missense_Mutation_p.M1013L|ARHGEF10_uc010lre.2_Missense_Mutation_p.M702L	p.M1051L	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	26	3329	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1076					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.3151A>T		.	.	.	.	.	.	.	.	.	.	A	0.014	-1.598839	0.00857	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;0.09;0.09	5.11	-3.18	0.05186	.	0.430999	0.29266	N	0.012655	T	0.35128	0.0921	N	0.19112	0.55	0.48452	D	0.999652	B;B	0.19583	0.037;0.001	B;B	0.15484	0.013;0.003	T	0.42241	-0.9463	10	0.02654	T	1	-12.6675	10.9604	0.47383	0.5727:0.0:0.4273:0.0	.	1013;1051	O15013-7;O15013-5	.;.	L	1051;1013;1075;1076;1047;695	ENSP00000340297:M1051L;ENSP00000427909:M1013L;ENSP00000431012:M1075L;ENSP00000381571:M1076L;ENSP00000262112:M1047L;ENSP00000427768:M695L	ENSP00000262112:M1047L	M	+	1	0	ARHGEF10	1869444	1.000000	0.71417	0.023000	0.16930	0.087000	0.18053	1.347000	0.33975	-0.790000	0.04492	-0.290000	0.09829	ATG		PASS	0.443	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				121	68	121	68	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25232132	25232132	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:25232132G>T	ENST00000276440.7	+	37	3822	c.3778G>T	c.(3778-3780)Gct>Tct	p.A1260S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1260	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A1260S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTACACAGAAGCTGCCTACAC	0.468																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3778-3780)GCT>TCT		dedicator of cytokinesis 5							238.0	211.0	220.0					8																	25232132		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25232132G>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3778G>T	8.37:g.25232132G>T	ENSP00000276440:p.Ala1260Ser					DOCK5_uc003xeh.1_Missense_Mutation_p.A974S|PPP2R2A_uc003xek.2_Missense_Mutation_p.A49S|DOCK5_uc003xei.2_Missense_Mutation_p.A830S|DOCK5_uc003xej.2_RNA	p.A1260S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	37	3915	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1260			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3778G>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.641460|5.641460	0.96704|0.96704	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.35048|.	1.33|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87002|0.87002	0.6069|0.6069	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.998;0.976;1.0;0.99|.	D;D;D;D|.	0.91635|.	0.999;0.981;0.998;0.981|.	D|D	0.89101|0.89101	0.3489|0.3489	10|5	0.87932|.	D|.	0|.	.|.	20.181|20.181	0.98201|0.98201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	49;1250;1035;1260|.	Q6ZP32;D3DSS6;Q68DL4;Q9H7D0|.	.;.;.;DOCK5_HUMAN|.	S|I	1260|1031	ENSP00000276440:A1260S|.	ENSP00000276440:A1260S|.	A|S	+|+	1|2	0|0	DOCK5|DOCK5	25288049|25288049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.781000|9.781000	0.99029|0.99029	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCT|AGC		PASS	0.468	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		5	307	5	307	---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27646495	27646495	+	Splice_Site	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:27646495G>A	ENST00000305188.8	+	7	1501	c.1263G>A	c.(1261-1263)gtG>gtA	p.V421V	ESCO2_ENST00000397418.2_Splice_Site_p.V69V	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	421					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)	p.V421V(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCAAATATGTGGTGAGCCAAA	0.398									SC Phocomelia syndrome																													uc003xgg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1261-1263)GTG>GTA		establishment of cohesion 1 homolog 2							98.0	90.0	93.0					8																	27646495		2203	4300	6503	SO:0001630	splice_region_variant	157570	SC_Phocomelia_syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27646495G>A	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1263+1G>A	8.37:g.27646495G>A						ESCO2_uc010luy.1_RNA	p.V421V	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	7	1346	+		Ovarian(32;0.000953)	421					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.1263G>A	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	G	8.547	0.874711	0.17395	.	.	ENSG00000171320	ENST00000518262	.	.	.	5.54	-0.279	0.12890	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2418	4.601	0.12354	0.3491:0.0:0.4792:0.1717	.	.	.	.	X	126	.	.	W	+	2	0	ESCO2	27702414	1.000000	0.71417	0.443000	0.26883	0.719000	0.41307	2.033000	0.41136	0.300000	0.22699	0.655000	0.94253	TGG		PASS	0.398	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420	Silent	45	51	45	51	---	---	---	---
FUT10	84750	broad.mit.edu	37	8	33230216	33230216	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:33230216C>A	ENST00000327671.5	-	5	1950	c.1319G>T	c.(1318-1320)cGa>cTa	p.R440L	FUT10_ENST00000524021.1_Missense_Mutation_p.R412L|FUT10_ENST00000518672.1_Missense_Mutation_p.R412L	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	440					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.R440L(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CCACATCTCTCGCAAAGAGCT	0.488																																						uc003xje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1318-1320)CGA>CTA		fucosyltransferase 10							92.0	89.0	90.0					8																	33230216		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33230216C>A	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.1319G>T	8.37:g.33230216C>A	ENSP00000332757:p.Arg440Leu					FUT10_uc003xjc.2_Missense_Mutation_p.R447L|FUT10_uc003xjd.2_Missense_Mutation_p.R412L|FUT10_uc011lbi.1_Missense_Mutation_p.R490L	p.R440L	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	5	1675	-			440			Lumenal (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.1319G>T	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220340	0.39201	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021	T;T;T	0.38401	1.14;1.15;1.15	5.45	5.45	0.79879	.	0.354305	0.25094	N	0.033191	T	0.41003	0.1140	M	0.77616	2.38	0.80722	D	1	B;B;B	0.31968	0.349;0.158;0.23	B;B;B	0.27715	0.062;0.02;0.082	T	0.30238	-0.9985	10	0.30078	T	0.28	-7.4818	16.7655	0.85523	0.0:1.0:0.0:0.0	.	490;440;482	B4E056;Q6P4F1;E7EU36	.;FUT10_HUMAN;.	L	440;482;412;412	ENSP00000332757:R440L;ENSP00000430428:R412L;ENSP00000429870:R412L	ENSP00000332757:R440L	R	-	2	0	FUT10	33349758	0.998000	0.40836	0.998000	0.56505	0.422000	0.31414	3.300000	0.51834	2.566000	0.86566	0.591000	0.81541	CGA		PASS	0.488	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		45	44	45	44	---	---	---	---
SNAI2	6591	broad.mit.edu	37	8	49832654	49832654	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:49832654C>T	ENST00000396822.1	-	3	783	c.426G>A	c.(424-426)ggG>ggA	p.G142G	SNAI2_ENST00000020945.1_Silent_p.G142G			O43623	SNAI2_HUMAN	snail family zinc finger 2	142					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.G142G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GTTTGGCCAGCCCAGAAAAAG	0.448																																						uc003xqp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(424-426)GGG>GGA		snail 2							99.0	99.0	99.0					8																	49832654		2203	4300	6503	SO:0001819	synonymous_variant	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832654C>T	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.426G>A	8.37:g.49832654C>T							p.G142G	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	590	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	142			C2H2-type 1.		B2R6P6|Q53FC1	Silent	SNP	ENST00000396822.1	37	c.426G>A	CCDS6146.1																																																																																				PASS	0.448	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		180	295	180	295	---	---	---	---
ASPH	444	broad.mit.edu	37	8	62430122	62430122	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:62430122C>T	ENST00000379454.4	-	24	2278	c.2091G>A	c.(2089-2091)aaG>aaA	p.K697K	ASPH_ENST00000541428.1_Silent_p.K668K	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	697					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.K697K(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCAGCCTTCCTTGGGAATCA	0.527																																						uc003xuj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2089-2091)AAG>AAA		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						161.0	122.0	135.0					8																	62430122		2203	4300	6503	SO:0001819	synonymous_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62430122C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2091G>A	8.37:g.62430122C>T						ASPH_uc011leg.1_Silent_p.K668K	p.K697K	NM_004318	NP_004309	Q12797	ASPH_HUMAN			24	2360	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	697			Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	c.2091G>A	CCDS34898.1																																																																																				PASS	0.527	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		88	139	88	139	---	---	---	---
SGK3	23678	broad.mit.edu	37	8	67753278	67753278	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:67753278A>G	ENST00000396596.1	+	13	1125	c.911A>G	c.(910-912)gAt>gGt	p.D304G	SGK3_ENST00000345714.4_Missense_Mutation_p.D304G|SGK3_ENST00000522398.1_Missense_Mutation_p.D304G|SGK3_ENST00000521198.2_Missense_Mutation_p.D304G|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.D304G|SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000520976.1_Missense_Mutation_p.D304G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.D237G(1)|p.D304G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTCTTAACAGATTTTGGGCTT	0.303																																						uc003xwr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|lung(1)|breast(1)	4						c.(910-912)GAT>GGT		serum/glucocorticoid regulated kinase 3 isoform							148.0	134.0	139.0					8																	67753278		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67753278A>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.911A>G	8.37:g.67753278A>G	ENSP00000379842:p.Asp304Gly					SGK3_uc003xwp.2_Missense_Mutation_p.D298G|SGK3_uc003xwt.2_Missense_Mutation_p.D304G|SGK3_uc003xwu.2_Missense_Mutation_p.D304G	p.D304G	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		13	1210	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	304			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.911A>G	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451247	0.84209	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714	D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	6.01	6.01	0.97437	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	0.97888	0.9306	H	0.96333	3.805	0.50171	D	0.999851	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99120	1.0849	9	0.87932	D	0	.	16.5067	0.84274	1.0:0.0:0.0:0.0	.	304;304	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	G	304	ENSP00000429022:D304G;ENSP00000430463:D304G;ENSP00000430256:D304G;ENSP00000430691:D304G;ENSP00000379842:D304G;ENSP00000331816:D304G	ENSP00000262211:D304G	D	+	2	0	SGK3	67915832	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	9.296000	0.96104	2.298000	0.77334	0.528000	0.53228	GAT		PASS	0.303	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			13	80	13	80	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87229738	87229738	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:87229738C>A	ENST00000297524.3	-	3	1243	c.1140G>T	c.(1138-1140)agG>agT	p.R380S	SLC7A13_ENST00000520624.1_5'Flank|SLC7A13_ENST00000419776.2_Missense_Mutation_p.R371S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	380			R -> K (in dbSNP:rs4419794).			integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.R380S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GGTATCTCCGCCTTAGTATTC	0.294																																						uc003ydq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1138-1140)AGG>AGT		solute carrier family 7, (cationic amino acid							29.0	33.0	32.0					8																	87229738		2194	4292	6486	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229738C>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1140G>T	8.37:g.87229738C>A	ENSP00000297524:p.Arg380Ser					SLC7A13_uc003ydr.1_Missense_Mutation_p.R371S	p.R380S	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	1238	-			380			Cytoplasmic (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.1140G>T	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165334	0.06461	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89552	-2.53;-2.53	5.03	1.25	0.21368	.	0.592368	0.15885	N	0.239861	T	0.72914	0.3520	N	0.14661	0.345	0.18873	N	0.999989	B;B	0.16802	0.019;0.007	B;B	0.12156	0.007;0.002	T	0.56282	-0.8005	10	0.23302	T	0.38	.	1.0148	0.01505	0.1532:0.1806:0.1583:0.5079	.	371;380	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	S	380;371	ENSP00000297524:R380S;ENSP00000410982:R371S	ENSP00000297524:R380S	R	-	3	2	SLC7A13	87298854	0.947000	0.32204	0.008000	0.14137	0.005000	0.04900	0.732000	0.26072	0.103000	0.17682	-0.312000	0.09012	AGG		PASS	0.294	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		6	13	6	13	---	---	---	---
PTDSS1	9791	broad.mit.edu	37	8	97318741	97318741	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:97318741G>T	ENST00000517309.1	+	8	1290	c.964G>T	c.(964-966)Ggt>Tgt	p.G322C	PTDSS1_ENST00000455950.2_Missense_Mutation_p.G176C|Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000522072.1_Missense_Mutation_p.G119C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	322					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.G322C(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ATTAAGTTGGGGTAGAATTCT	0.418																																						uc003yht.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(964-966)GGT>TGT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						205.0	190.0	195.0					8																	97318741		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97318741G>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.964G>T	8.37:g.97318741G>T	ENSP00000430548:p.Gly322Cys					PTDSS1_uc003yhu.1_Missense_Mutation_p.G176C	p.G322C	NM_014754	NP_055569	P48651	PTSS1_HUMAN			8	1066	+	Breast(36;6.18e-05)		322			Helical; (Potential).		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.964G>T	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839766	0.32513	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.42900	1.0;1.0;0.96	5.91	3.5	0.40072	.	0.143801	0.64402	N	0.000003	T	0.31231	0.0790	N	0.21282	0.65	0.47778	D	0.999514	B	0.10296	0.003	B	0.23852	0.049	T	0.04115	-1.0976	10	0.38643	T	0.18	-7.1119	13.606	0.62048	0.0:0.0:0.547:0.453	.	322	P48651	PTSS1_HUMAN	C	322;176;119	ENSP00000430548:G322C;ENSP00000401248:G176C;ENSP00000430928:G119C	ENSP00000401248:G176C	G	+	1	0	PTDSS1	97387917	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.758000	0.47565	0.450000	0.26774	-0.274000	0.10170	GGT		PASS	0.418	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			13	412	13	412	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113301698	113301698	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:113301698G>A	ENST00000297405.5	-	57	9288	c.9044C>T	c.(9043-9045)tCt>tTt	p.S3015F	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2975F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2846F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2945F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3015	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2975F(1)|p.S3015F(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						GTGAACAGTAGACCCAAAAGT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(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.(9043-9045)TCT>TTT		CUB and Sushi multiple domains 3 isoform 1							86.0	76.0	80.0					8																	113301698		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301698G>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.9044C>T	8.37:g.113301698G>A	ENSP00000297405:p.Ser3015Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S2217F|CSMD3_uc003ynt.2_Missense_Mutation_p.S2975F|CSMD3_uc011lhx.1_Missense_Mutation_p.S2846F	p.S3015F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9203	-			3015			Sushi 21.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9044C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447710	0.96205	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.87091	0.6091	M	0.92649	3.33	0.58432	D	0.999998	D;D;P	0.76494	0.995;0.999;0.94	D;D;P	0.77004	0.915;0.989;0.683	D	0.87931	0.2710	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2846;3015;2975	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2975;3015;2285;2846;2945	ENSP00000345799:S2975F;ENSP00000297405:S3015F;ENSP00000341558:S2285F;ENSP00000412263:S2846F;ENSP00000343124:S2945F	ENSP00000297405:S3015F	S	-	2	0	CSMD3	113370874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	TCT		PASS	0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		52	68	52	68	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964048	123964048	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:123964048C>A	ENST00000314393.4	+	3	1133	c.298C>A	c.(298-300)Cag>Aag	p.Q100K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	100					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Q100K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTCGACATGCAGCATCCCAA	0.498																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(298-300)CAG>AAG		zinc fingers and homeoboxes 2							107.0	96.0	99.0					8																	123964048		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964048C>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.298C>A	8.37:g.123964048C>A	ENSP00000314709:p.Gln100Lys						p.Q100K	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	865	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		100			C2H2-type 1.			Missense_Mutation	SNP	ENST00000314393.4	37	c.298C>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255553	0.59321	.	.	ENSG00000178764	ENST00000314393	T	0.50277	0.75	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);	0.175182	0.50627	D	0.000112	T	0.45796	0.1360	L	0.51422	1.61	0.44092	D	0.996855	P	0.47762	0.9	B	0.38500	0.275	T	0.52449	-0.8574	10	0.62326	D	0.03	-16.4206	19.5336	0.95240	0.0:1.0:0.0:0.0	.	100	Q9Y6X8	ZHX2_HUMAN	K	100	ENSP00000314709:Q100K	ENSP00000314709:Q100K	Q	+	1	0	ZHX2	124033229	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.950000	0.70265	2.637000	0.89404	0.455000	0.32223	CAG		PASS	0.498	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		5	223	5	223	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964939	123964939	+	Missense_Mutation	SNP	G	G	A	rs542948205		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:123964939G>A	ENST00000314393.4	+	3	2024	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	397	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V397M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CACACTTGCCGTGGCAGGAGT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17618	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1189-1191)GTG>ATG		zinc fingers and homeoboxes 2							53.0	57.0	56.0					8																	123964939		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964939G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1189G>A	8.37:g.123964939G>A	ENSP00000314709:p.Val397Met						p.V397M	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1756	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		397			Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1189G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002264	0.35320	.	.	ENSG00000178764	ENST00000314393	T	0.30714	1.52	5.72	2.96	0.34315	.	0.436823	0.23433	N	0.048222	T	0.23926	0.0579	L	0.49778	1.585	0.36764	D	0.883443	P	0.34662	0.462	B	0.25140	0.058	T	0.14337	-1.0476	10	0.59425	D	0.04	-4.9005	9.4271	0.38586	0.2198:0.0:0.7802:0.0	.	397	Q9Y6X8	ZHX2_HUMAN	M	397	ENSP00000314709:V397M	ENSP00000314709:V397M	V	+	1	0	ZHX2	124034120	0.997000	0.39634	0.385000	0.26158	0.748000	0.42578	2.463000	0.45058	0.360000	0.24265	0.485000	0.47835	GTG		PASS	0.632	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		30	151	30	151	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	132051973	132051973	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:132051973G>A	ENST00000286355.5	-	1	2699	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	ADCY8_ENST00000377928.3_Silent_p.L203L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	203					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.L203L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCGAGGCCAGGCTCAAGTGT	0.587										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(607-609)CTG>TTG		adenylate cyclase 8							78.0	81.0	80.0					8																	132051973		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051973G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.607C>T	8.37:g.132051973G>A		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.L203L	p.L203L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	863	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		203			Helical; (Potential).			Silent	SNP	ENST00000286355.5	37	c.607C>T	CCDS6363.1																																																																																				PASS	0.587	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			69	126	69	126	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135613997	135613997	+	Silent	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:135613997C>A	ENST00000377838.3	-	6	2139	c.1965G>T	c.(1963-1965)ggG>ggT	p.G655G	ZFAT_ENST00000520727.1_Silent_p.G643G|ZFAT_ENST00000429442.2_Silent_p.G643G|ZFAT_ENST00000520214.1_Silent_p.G643G|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.G593G|ZFAT_ENST00000520356.1_Silent_p.G643G	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	655					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G643G(1)|p.G655G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCTGCCCTTCCCCTAGGGGGC	0.597																																						uc003yup.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1963-1965)GGG>GGT		zinc finger protein 406 isoform ZFAT-1							64.0	67.0	66.0					8																	135613997		1980	4167	6147	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135613997C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1965G>T	8.37:g.135613997C>A						ZFAT_uc003yun.2_Silent_p.G643G|ZFAT_uc003yuo.2_Silent_p.G643G|ZFAT_uc010meh.2_Silent_p.G643G|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.G643G|ZFAT_uc010mej.2_Silent_p.G593G|ZFAT_uc003yur.2_Silent_p.G643G	p.G655G	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	2140	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		655					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1965G>T	CCDS47924.1																																																																																				PASS	0.597	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		74	137	74	137	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139151265	139151265	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr8:139151265G>C	ENST00000395297.1	-	18	4035	c.3865C>G	c.(3865-3867)Cgc>Ggc	p.R1289G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289								p.R1289G(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)			AAACATTTGCGCAAATCAGCA	0.438										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3865-3867)CGC>GGC		hypothetical protein LOC51059							132.0	127.0	128.0					8																	139151265		1875	4118	5993	SO:0001583	missense	51059							g.chr8:139151265G>C	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.3865C>G	8.37:g.139151265G>C	ENSP00000378710:p.Arg1289Gly	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.R1190G|FAM135B_uc003yuz.2_RNA	p.R1289G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4036	-	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)		1289					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3865C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403248	0.83230	.	.	ENSG00000147724	ENST00000395297	T	0.43688	0.94	5.58	5.58	0.84498	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	M	0.80183	2.485	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.72154	-0.4376	10	0.87932	D	0	-20.3154	18.5599	0.91096	0.0:0.0:1.0:0.0	.	1289	Q49AJ0	F135B_HUMAN	G	1289	ENSP00000378710:R1289G	ENSP00000378710:R1289G	R	-	1	0	FAM135B	139220447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.897000	0.87356	2.644000	0.89710	0.655000	0.94253	CGC		PASS	0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		54	147	54	147	---	---	---	---
IFNA16	3449	broad.mit.edu	37	9	21217288	21217288	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr9:21217288G>C	ENST00000380216.1	-	1	22	c.17C>G	c.(16-18)tCt>tGt	p.S6C		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	6					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S6C(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CATCAGTAAAGAAAAGGACAG	0.488																																						uc003zor.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(16-18)TCT>TGT		interferon, alpha 16 precursor							48.0	50.0	49.0					9																	21217288		2203	4298	6501	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21217288G>C		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.17C>G	9.37:g.21217288G>C	ENSP00000369564:p.Ser6Cys					IFNA14_uc003zoo.1_Intron	p.S6C	NM_002173	NP_002164	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	23	-			6					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.17C>G	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	10.07	1.248979	0.22880	.	.	ENSG00000147885	ENST00000380216	T	0.03242	4.0	2.51	1.58	0.23477	.	1.722310	0.02917	N	0.137438	T	0.07593	0.0191	M	0.78916	2.43	0.09310	N	1	B	0.13145	0.007	B	0.18263	0.021	T	0.44937	-0.9295	10	0.87932	D	0	.	3.3704	0.07219	0.166:0.2779:0.5561:0.0	.	6	P05015	IFN16_HUMAN	C	6	ENSP00000369564:S6C	ENSP00000369564:S6C	S	-	2	0	IFNA16	21207288	0.000000	0.05858	0.001000	0.08648	0.475000	0.33008	0.569000	0.23638	1.410000	0.46936	0.184000	0.17185	TCT		PASS	0.488	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		32	78	32	78	---	---	---	---
FAM214B	80256	broad.mit.edu	37	9	35107389	35107389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr9:35107389C>A	ENST00000378561.1	-	2	3938	c.883G>T	c.(883-885)Gag>Tag	p.E295*	FAM214B_ENST00000378557.1_Nonsense_Mutation_p.E295*|FAM214B_ENST00000605244.1_Nonsense_Mutation_p.E295*|FAM214B_ENST00000603301.1_Nonsense_Mutation_p.E295*|FAM214B_ENST00000378554.2_Nonsense_Mutation_p.E295*|FAM214B_ENST00000488109.2_Nonsense_Mutation_p.E295*|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378566.1_5'UTR|FAM214B_ENST00000322813.5_Nonsense_Mutation_p.E295*			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	295						nucleus (GO:0005634)		p.E295*(1)									AAAACAGGCTCTTTGGGCCCA	0.493																																						uc003zwl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(883-885)GAG>TAG		hypothetical protein LOC80256							75.0	85.0	81.0					9																	35107389		2203	4300	6503	SO:0001587	stop_gained	80256					nucleus		g.chr9:35107389C>A	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.883G>T	9.37:g.35107389C>A	ENSP00000367823:p.Glu295*					KIAA1539_uc003zwm.2_Nonsense_Mutation_p.E295*|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Nonsense_Mutation_p.E295*|KIAA1539_uc003zwp.1_Nonsense_Mutation_p.E295*|KIAA1539_uc010mkk.1_RNA	p.E295*	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	1208	-	all_epithelial(49;0.217)		295					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Nonsense_Mutation	SNP	ENST00000378561.1	37	c.883G>T	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	35	5.474326	0.96291	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	5.13	5.13	0.70059	.	0.224266	0.35291	N	0.003312	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-24.7776	16.9449	0.86228	0.0:1.0:0.0:0.0	.	.	.	.	X	295	.	ENSP00000319897:E295X	E	-	1	0	KIAA1539	35097389	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.142000	0.50601	2.682000	0.91365	0.555000	0.69702	GAG		PASS	0.493	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		8	613	8	613	---	---	---	---
ALDH1B1	219	broad.mit.edu	37	9	38396346	38396346	+	Missense_Mutation	SNP	G	G	A	rs199527495		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr9:38396346G>A	ENST00000377698.3	+	2	754	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	201					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.A201T(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CCCGGCACTCGCCACAGGCAA	0.597																																						uc004aay.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(601-603)GCC>ACC		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)	G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	77.0	76.0	77.0		601	4.6	0.2	9		77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ALDH1B1	NM_000692.4	58	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	201/518	38396346	4,13002	2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396346G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.601G>A	9.37:g.38396346G>A	ENSP00000366927:p.Ala201Thr						p.A201T	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	713	+			201					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.601G>A	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017270	0.54576	6.81E-4	1.16E-4	ENSG00000137124	ENST00000377698	T	0.81078	-1.45	5.51	4.61	0.57282	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000010	D	0.91338	0.7268	H	0.95114	3.625	0.54753	D	0.999983	D	0.71674	0.998	P	0.62740	0.906	D	0.93032	0.6449	10	0.72032	D	0.01	.	12.306	0.54902	0.0827:0.0:0.9173:0.0	.	201	P30837	AL1B1_HUMAN	T	201	ENSP00000366927:A201T	ENSP00000366927:A201T	A	+	1	0	ALDH1B1	38386346	1.000000	0.71417	0.182000	0.23118	0.407000	0.30961	5.253000	0.65452	1.329000	0.45376	0.655000	0.94253	GCC		PASS	0.597	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			13	443	13	443	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90501261	90501261	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr9:90501261C>G	ENST00000325643.5	+	4	1925	c.1859C>G	c.(1858-1860)aCc>aGc	p.T620S		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	620					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T620S(1)									GGGGTTGTCACCAGCCCTGAG	0.642																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1858-1860)ACC>AGC		chromosome 9 open reading frame 79							44.0	51.0	49.0					9																	90501261		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90501261C>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1859C>G	9.37:g.90501261C>G	ENSP00000322640:p.Thr620Ser					C9orf79_uc004apo.1_Missense_Mutation_p.T432S	p.T620S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	1894	+			620					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.1859C>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	7.765	0.706206	0.15239	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.06768	3.26	2.27	-3.62	0.04543	.	2.641400	0.01474	N	0.016404	T	0.05364	0.0142	N	0.22421	0.69	0.09310	N	1	P;P	0.52692	0.955;0.892	B;B	0.43478	0.421;0.346	T	0.22871	-1.0204	10	0.22109	T	0.4	.	0.5199	0.00610	0.1894:0.3062:0.2206:0.2838	.	620;272	Q6ZUB1;Q8NA33	CI079_HUMAN;.	S	620;272	ENSP00000322640:T620S	ENSP00000322640:T620S	T	+	2	0	C9orf79	89691081	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	-0.159000	0.10056	-0.866000	0.04068	-0.507000	0.04495	ACC		PASS	0.642	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		5	193	5	193	---	---	---	---
SEC61B	10952	broad.mit.edu	37	9	101984110	101984110	+	5'Flank	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr9:101984110C>A	ENST00000223641.4	+	0	0				ALG2_ENST00000476832.1_Missense_Mutation_p.D23Y|SEC61B_ENST00000498603.1_5'Flank|ALG2_ENST00000319033.6_5'Flank	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.D23Y(1)		kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				ACGCCCAGGTCTGGGTGGAGG	0.711																																						uc004azf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(67-69)GAC>TAC		alpha-1,3-mannosyltransferase ALG2							13.0	16.0	15.0					9																	101984110		2177	4264	6441	SO:0001631	upstream_gene_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101984110C>A	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354		9.37:g.101984110C>A	Exception_encountered					ALG2_uc004azg.2_5'UTR|SEC61B_uc004azh.2_5'Flank	p.D23Y	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			1	137	-		Acute lymphoblastic leukemia(62;0.0559)	23					P38390|P38391|Q6IBC1	Missense_Mutation	SNP	ENST00000223641.4	37	c.67G>T	CCDS6741.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186546	0.78789	.	.	ENSG00000119523	ENST00000476832	T	0.79454	-1.27	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83304	-0.0026	10	0.10636	T	0.68	-29.2964	17.3357	0.87280	0.0:1.0:0.0:0.0	.	23	Q9H553	ALG2_HUMAN	Y	23	ENSP00000417764:D23Y	ENSP00000417764:D23Y	D	-	1	0	ALG2	101023931	1.000000	0.71417	0.987000	0.45799	0.405000	0.30901	6.808000	0.75206	2.432000	0.82394	0.655000	0.94253	GAC		PASS	0.711	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808		6	31	6	31	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114246723	114246723	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr9:114246723G>A	ENST00000259335.4	-	2	189	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	KIAA0368_ENST00000338205.5_5'Flank	NM_001080398.1	NP_001073867.1	Q5VYK3	ECM29_HUMAN	KIAA0368	0					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.R64W(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCCTCCCGCCGAACTTCTCGG	0.692																																						uc004bfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)CGG>TGG		KIAA0368 protein							7.0	10.0	9.0					9																	114246723		1785	4001	5786	SO:0001583	missense	23392							g.chr9:114246723G>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000259335.4:c.190C>T	9.37:g.114246723G>A	ENSP00000259335:p.Arg64Trp					KIAA0368_uc010muc.1_5'Flank	p.R64W	NM_001080398	NP_001073867					2	190	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000259335.4	37	c.190C>T	CCDS48006.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243475	0.58995	.	.	ENSG00000136813	ENST00000259335	T	0.52754	0.65	3.37	2.41	0.29592	.	.	.	.	.	T	0.55178	0.1904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57341	-0.7828	6	0.87932	D	0	.	8.4228	0.32712	0.0:0.3639:0.6361:0.0	.	.	.	.	W	64	ENSP00000259335:R64W	ENSP00000259335:R64W	R	-	1	2	KIAA0368	113286544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.642000	0.37207	0.886000	0.36113	0.591000	0.81541	CGG		PASS	0.692	KIAA0368-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014686		10	13	10	13	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715863	138715863	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr9:138715863T>A	ENST00000389532.4	-	10	1397	c.1333A>T	c.(1333-1335)Aat>Tat	p.N445Y	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.N167Y|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.N456Y	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	445					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.N445Y(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTCAAAGAATTCGATCGATGT	0.418																																						uc004cgr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1333-1335)AAT>TAT		calmodulin regulated spectrin-associated protein							55.0	50.0	51.0					9																	138715863		2203	4296	6499	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138715863T>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1333A>T	9.37:g.138715863T>A	ENSP00000374183:p.Asn445Tyr					CAMSAP1_uc004cgq.3_Missense_Mutation_p.N335Y|CAMSAP1_uc010nbg.2_Missense_Mutation_p.N167Y	p.N445Y	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1333	-			445					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1333A>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346295	0.61073	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.17370	2.32;2.28;2.3	5.26	4.12	0.48240	.	0.187632	0.56097	D	0.000037	T	0.30008	0.0751	M	0.74881	2.28	0.41228	D	0.98655	P;P	0.44281	0.831;0.826	B;P	0.49637	0.316;0.617	T	0.04386	-1.0955	10	0.87932	D	0	-3.1573	10.2002	0.43077	0.0:0.0:0.1798:0.8202	.	445;456	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Y	445;167;456	ENSP00000374183:N445Y;ENSP00000312463:N167Y;ENSP00000386420:N456Y	ENSP00000312463:N167Y	N	-	1	0	CAMSAP1	137855684	0.999000	0.42202	0.016000	0.15963	0.870000	0.49936	3.360000	0.52299	0.836000	0.34901	0.533000	0.62120	AAT		PASS	0.418	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		3	3	3	3	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17157571	17157572	+	Nonsense_Mutation	DNP	CG	CG	GT	rs199977353|rs41289313	byFrequency	TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr10:17157571_17157572CG>GT	ENST00000377833.4	-	7	683_684	c.618_619CG>AC	c.(616-621)taCGga>taACga	p.206_207YG>*R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	206	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.Y206*(1)|p.G207R(1)|p.Y206_G207>*(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)	CACTGGGGTCCGTACGTCTCAG	0.52																																						uc001ioo.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - deletion inframe(1)		lung(3)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(619-621)GGA>CGA|c.(616-618)TAC>TAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001587	stop_gained	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.chr10:17157571C>G|g.chr10:17157572G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.618_619delinsGT	10.37:g.17157571_17157572delinsGT	ENSP00000367064:p.Y206_G207delins*R						p.G207R|p.Y206*	NM_001081	NP_001072	O60494	CUBN_HUMAN			7	671|670	-			207|206			EGF-like 2; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000377833.4	37	c.619G>C|c.618C>A	CCDS7113.1																																																																																				PASS	0.520	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		80	71	80	71	---	---	---	---
LYZL1	84569	broad.mit.edu	37	10	29578106	29578106	+	Silent	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr10:29578106A>T	ENST00000375500.3	+	1	117	c.60A>T	c.(58-60)gcA>gcT	p.A20A		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.A20A(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TTTCTTCCGCAGACTCAACTG	0.522																																						uc001iul.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)GCA>GCT		lysozyme-like 1							47.0	41.0	43.0					10																	29578106		2203	4300	6503	SO:0001819	synonymous_variant	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29578106A>T		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.60A>T	10.37:g.29578106A>T							p.A20A	NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN			1	117	+		Breast(68;0.203)	Error:Variant_position_missing_in_Q6UWQ5_after_alignment					Q5T921|Q8WW16	Silent	SNP	ENST00000375500.3	37	c.60A>T	CCDS31174.1																																																																																				PASS	0.522	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		21	16	21	16	---	---	---	---
SGPL1	8879	broad.mit.edu	37	10	72619134	72619134	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr10:72619134G>C	ENST00000373202.3	+	7	693	c.493G>C	c.(493-495)Gga>Cga	p.G165R		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	165					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.G165R(1)		large_intestine(4)	4						GCAGGCTTATGGAGATTTTGC	0.408																																					Colon(151;1054 2458 6676 40971)	uc001jrm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)GGA>CGA		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						75.0	66.0	69.0					10																	72619134		2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72619134G>C	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.493G>C	10.37:g.72619134G>C	ENSP00000362298:p.Gly165Arg						p.G165R	NM_003901	NP_003892	O95470	SGPL1_HUMAN			7	715	+			165			Cytoplasmic (Potential).		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.493G>C	CCDS31216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.444483|4.444483	0.83993|0.83993	.|.	.|.	ENSG00000166224|ENSG00000166224	ENST00000373202;ENST00000299297|ENST00000409118	T;T|.	0.45276|.	0.9;0.91|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.093453|.	0.85682|.	D|.	0.000000|.	T|T	0.69169|0.69169	0.3081|0.3081	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	B|.	0.17852|.	0.024|.	B|.	0.19148|.	0.024|.	T|T	0.66152|0.66152	-0.5995|-0.5995	10|5	0.38643|.	T|.	0.18|.	-7.9517|-7.9517	15.5279|15.5279	0.75925|0.75925	0.0:0.1385:0.8615:0.0|0.0:0.1385:0.8615:0.0	.|.	165|.	O95470|.	SGPL1_HUMAN|.	R|I	165;148|78	ENSP00000362298:G165R;ENSP00000299297:G148R|.	ENSP00000299297:G148R|.	G|M	+|+	1|3	0|0	SGPL1|SGPL1	72289140|72289140	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.958000|0.958000	0.62258|0.62258	7.069000|7.069000	0.76755|0.76755	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GGA|ATG		PASS	0.408	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		30	17	30	17	---	---	---	---
ARL3	403	broad.mit.edu	37	10	104445666	104445666	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr10:104445666G>A	ENST00000260746.5	-	5	539	c.408C>T	c.(406-408)gcC>gcT	p.A136A		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	136					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)	p.A136A(1)		large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CAATTTCAGAGGCAGGGGCTG	0.502																																						uc001kwa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(406-408)GCC>GCT		ADP-ribosylation factor-like 3							106.0	99.0	101.0					10																	104445666		2203	4300	6503	SO:0001819	synonymous_variant	403				cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding	g.chr10:104445666G>A	U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.408C>T	10.37:g.104445666G>A							p.A136A	NM_004311	NP_004302	P36405	ARL3_HUMAN		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)	5	566	-		Colorectal(252;0.122)	136					B2R6C7|Q53X83|Q5JSM2	Silent	SNP	ENST00000260746.5	37	c.408C>T	CCDS7538.1																																																																																				PASS	0.502	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050088.2	NM_004311		6	163	6	163	---	---	---	---
OR51F2	119694	broad.mit.edu	37	11	4842815	4842815	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:4842815G>C	ENST00000322110.5	+	1	265	c.200G>C	c.(199-201)cGg>cCg	p.R67P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R67P(2)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTGAACGGAGCCTCCAT	0.478																																						uc010qyn.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(199-201)CGG>CCG		olfactory receptor, family 51, subfamily F,							238.0	232.0	234.0					11																	4842815		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842815G>C	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.200G>C	11.37:g.4842815G>C	ENSP00000323952:p.Arg67Pro						p.R67P	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	200	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	67			Cytoplasmic (Potential).		Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.200G>C	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.904594	0.00057	.	.	ENSG00000176925	ENST00000322110	T	0.02236	4.38	4.43	0.688	0.18027	GPCR, rhodopsin-like superfamily (1);	1.555310	0.04632	U	0.403880	T	0.01189	0.0039	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41484	-0.9506	10	0.02654	T	1	.	7.833	0.29353	0.6454:0.0:0.3546:0.0	.	67	Q8NH61	O51F2_HUMAN	P	67	ENSP00000323952:R67P	ENSP00000323952:R67P	R	+	2	0	OR51F2	4799391	0.000000	0.05858	0.436000	0.26797	0.134000	0.20937	-0.500000	0.06405	0.022000	0.15160	-0.340000	0.08031	CGG		PASS	0.478	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		10	402	10	402	---	---	---	---
OR51I2	390064	broad.mit.edu	37	11	5475618	5475618	+	Silent	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:5475618C>A	ENST00000341449.2	+	1	981	c.900C>A	c.(898-900)cgC>cgA	p.R300R	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	300					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R300R(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAATCCGCCGAGCCATTT	0.438																																						uc010qzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(898-900)CGC>CGA		olfactory receptor, family 51, subfamily I,							127.0	127.0	127.0					11																	5475618		2201	4297	6498	SO:0001819	synonymous_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475618C>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.900C>A	11.37:g.5475618C>A						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.R300R	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	900	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	300			Cytoplasmic (Potential).		Q6IF81	Silent	SNP	ENST00000341449.2	37	c.900C>A	CCDS31383.1																																																																																				PASS	0.438	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		84	81	84	81	---	---	---	---
ST5	6764	broad.mit.edu	37	11	8751700	8751700	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:8751700G>A	ENST00000534127.1	-	6	1522	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	ST5_ENST00000313726.6_Silent_p.S379S|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Silent_p.S379S|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	379	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S379S(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGGGATCGAGGGAACTCTTCG	0.602																																						uc001mgt.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1135-1137)TCC>TCT		suppression of tumorigenicity 5 isoform 1							136.0	134.0	135.0					11																	8751700		2201	4296	6497	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751700G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1137C>T	11.37:g.8751700G>A						ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Silent_p.S379S|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Silent_p.S379S	p.S379S	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	3	1323	-			379			Pro-rich.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.1137C>T	CCDS7791.1																																																																																				PASS	0.602	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		12	203	12	203	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003668	50003668	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:50003668T>C	ENST00000335238.4	-	1	403	c.370A>G	c.(370-372)Atc>Gtc	p.I124V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I124V(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGTTTGCAGATGGCCACATAG	0.493																																						uc010ria.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(370-372)ATC>GTC		olfactory receptor, family 4, subfamily C,							152.0	152.0	152.0					11																	50003668		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003668T>C	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.370A>G	11.37:g.50003668T>C	ENSP00000334418:p.Ile124Val						p.I124V	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	370	-			124			Cytoplasmic (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.370A>G	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	18.07	3.542621	0.65198	.	.	ENSG00000221954	ENST00000335238	T	0.50813	0.73	3.31	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.160723	0.28161	N	0.016375	T	0.61949	0.2388	M	0.80028	2.48	0.33245	D	0.557705	D	0.62365	0.991	P	0.57283	0.817	T	0.75077	-0.3445	10	0.87932	D	0	.	10.0552	0.42241	0.0:0.0:0.0:1.0	.	124	Q96R67	OR4CC_HUMAN	V	124	ENSP00000334418:I124V	ENSP00000334418:I124V	I	-	1	0	OR4C12	49960244	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.727000	0.54984	1.528000	0.49103	0.325000	0.21440	ATC		PASS	0.493	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		76	299	76	299	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55594695	55594695	+	Splice_Site	SNP	A	A	T	rs372791785		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:55594695A>T	ENST00000378397.1	+	1	1	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AATTGGAGACATGGGCAAGGA	0.393										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>TTG		olfactory receptor, family 5, subfamily L,							171.0	163.0	165.0					11																	55594695		2200	4296	6496	SO:0001630	splice_region_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594695A>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.1-1A>T	11.37:g.55594695A>T		HNSCC(27;0.073)					p.M1L	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	1	+		all_epithelial(135;0.208)	1			Extracellular (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.1A>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	15.60	2.882408	0.51908	.	.	ENSG00000205030	ENST00000378397	T	0.01295	5.04	5.31	4.17	0.49024	.	0.343327	0.25555	N	0.029872	T	0.06188	0.0160	.	.	.	.	.	.	D	0.59357	0.985	D	0.69307	0.963	T	0.19679	-1.0298	7	.	.	.	-52.5256	11.0007	0.47604	0.8603:0.0:0.0:0.1397	.	1	Q8NGL0	OR5L2_HUMAN	L	1	ENSP00000367650:M1L	.	M	+	1	0	OR5L2	55351271	0.980000	0.34600	0.286000	0.24833	0.025000	0.11179	2.644000	0.46613	0.970000	0.38263	0.509000	0.49947	ATG		PASS	0.393	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739	Missense_Mutation	11	371	11	371	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904489	55904489	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:55904489T>C	ENST00000301529.1	-	1	705	c.706A>G	c.(706-708)Aaa>Gaa	p.K236E		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236E(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)					GAAAAGGCTTTTTTCCTTCCT	0.393																																						uc010riz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(706-708)AAA>GAA		olfactory receptor, family 8, subfamily J,							109.0	101.0	104.0					11																	55904489		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904489T>C		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.706A>G	11.37:g.55904489T>C	ENSP00000301529:p.Lys236Glu						p.K236E	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	706	-	Esophageal squamous(21;0.00693)		236			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.706A>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165833	0.57476	.	.	ENSG00000167822	ENST00000301529	T	0.00364	7.81	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.081502	0.53938	D	0.000060	T	0.01870	0.0059	H	0.99104	4.43	0.32906	D	0.513925	P	0.52170	0.951	D	0.65573	0.936	T	0.01326	-1.1384	10	0.87932	D	0	.	11.5684	0.50820	0.0:0.0:0.0:1.0	.	236	Q8NGG0	OR8J3_HUMAN	E	236	ENSP00000301529:K236E	ENSP00000301529:K236E	K	-	1	0	OR8J3	55661065	1.000000	0.71417	0.976000	0.42696	0.460000	0.32559	4.777000	0.62361	1.272000	0.44329	0.247000	0.18012	AAA		PASS	0.393	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		11	70	11	70	---	---	---	---
OR5M10	390167	broad.mit.edu	37	11	56344385	56344385	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:56344385G>A	ENST00000526812.2	-	1	878	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S271S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CAATTATTTTGGACTCCTCTA	0.413																																						uc001niz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(811-813)TCC>TCT		olfactory receptor, family 5, subfamily M,							190.0	184.0	186.0					11																	56344385		1830	4084	5914	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344385G>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.813C>T	11.37:g.56344385G>A							p.S271S	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	813	-			271			Extracellular (Potential).		B9EIL9	Silent	SNP	ENST00000526812.2	37	c.813C>T	CCDS53630.1																																																																																				PASS	0.413	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		7	423	7	423	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380583	56380583	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:56380583G>A	ENST00000526538.1	-	1	395	c.396C>T	c.(394-396)taC>taT	p.Y132Y		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y132Y(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTGGAACTGTAATGCAAAG	0.458																																						uc001nja.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(394-396)TAC>TAT		olfactory receptor, family 5, subfamily M,							152.0	135.0	141.0					11																	56380583		1984	4182	6166	SO:0001819	synonymous_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380583G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.396C>T	11.37:g.56380583G>A							p.Y132Y	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	396	-			132			Cytoplasmic (Potential).		Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	c.396C>T	CCDS53631.1																																																																																				PASS	0.458	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		25	127	25	127	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64434732	64434732	+	Silent	SNP	A	A	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:64434732A>G	ENST00000377551.1	-	8	1999	c.1788T>C	c.(1786-1788)gaT>gaC	p.D596D	NRXN2_ENST00000265459.6_Silent_p.D596D|NRXN2_ENST00000377559.3_Silent_p.D565D|NRXN2_ENST00000409571.1_Silent_p.D589D			Q9P2S2	NRX2A_HUMAN	neurexin 2	596	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.D596D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTTTCGCCCATCCCTCTGGA	0.592																																						uc001oar.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1786-1788)GAT>GAC		neurexin 2 isoform alpha-1 precursor							77.0	60.0	66.0					11																	64434732		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64434732A>G		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1788T>C	11.37:g.64434732A>G						NRXN2_uc001oas.2_Silent_p.D565D|NRXN2_uc001oaq.2_Silent_p.D263D	p.D596D	NM_015080	NP_055895	P58401	NRX2B_HUMAN			10	2227	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.1788T>C	CCDS8077.1																																																																																				PASS	0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		30	129	30	129	---	---	---	---
MRGPRD	116512	broad.mit.edu	37	11	68748336	68748336	+	Silent	SNP	G	G	A	rs148272462		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:68748336G>A	ENST00000309106.3	-	1	119	c.120C>T	c.(118-120)tgC>tgT	p.C40C		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	40						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C40C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCCATCCCGCACAGGCAGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		22029	0.0		0.0	False		,,,				2504	0.001					uc010rqf.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(118-120)TGC>TGT		MAS-related GPR, member D		G		1,4399	2.1+/-5.4	0,1,2199	63.0	60.0	61.0		120	-10.3	0.0	11	dbSNP_134	61	0,8588		0,0,4294	no	coding-synonymous	MRGPRD	NM_198923.2		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		40/322	68748336	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748336G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.120C>T	11.37:g.68748336G>A							p.C40C	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	120	-			40			Helical; Name=1; (Potential).		Q8NGK7	Silent	SNP	ENST00000309106.3	37	c.120C>T	CCDS31625.1																																																																																				PASS	0.602	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		4	138	4	138	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71726893	71726893	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:71726893C>A	ENST00000393695.3	-	15	1987	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.Q552H|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.Q552H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGCTCCACCTGGTGGCGGA	0.602			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(1654-1656)CAG>CAT		nuclear mitotic apparatus protein 1							159.0	157.0	157.0					11																	71726893		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726893C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1656G>T	11.37:g.71726893C>A	ENSP00000377298:p.Gln552His		OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	NUMA1_uc009ysw.1_Missense_Mutation_p.Q115H|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.Q552H|NUMA1_uc001orn.2_Missense_Mutation_p.Q115H|NUMA1_uc009ysx.1_Missense_Mutation_p.Q552H|NUMA1_uc001oro.1_Missense_Mutation_p.Q552H	p.Q552H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	1828	-			552			Potential.			Missense_Mutation	SNP	ENST00000393695.3	37	c.1656G>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393472	0.62066	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.50277	2.48;2.52;1.32;0.75	5.82	4.85	0.62838	.	0.188311	0.39985	N	0.001208	T	0.56920	0.2018	L	0.44542	1.39	0.32230	N	0.574122	D;P;P;D	0.71674	0.998;0.891;0.713;0.998	D;P;B;D	0.80764	0.994;0.638;0.392;0.994	T	0.64193	-0.6465	10	0.72032	D	0.01	.	8.8952	0.35460	0.1499:0.7754:0.0:0.0747	.	558;36;552;552	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	H	552;552;115;552;552	ENSP00000351851:Q552H;ENSP00000377298:Q552H;ENSP00000444880:Q552H;ENSP00000442936:Q552H	ENSP00000351851:Q552H	Q	-	3	2	NUMA1	71404541	0.182000	0.23173	1.000000	0.80357	0.992000	0.81027	0.115000	0.15540	2.756000	0.94617	0.561000	0.74099	CAG		PASS	0.602	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			132	585	132	585	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73849786	73849786	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:73849786G>C	ENST00000334126.7	-	5	1160	c.934C>G	c.(934-936)Cct>Gct	p.P312A	C2CD3_ENST00000539061.1_Missense_Mutation_p.P312A|C2CD3_ENST00000313663.7_Missense_Mutation_p.P312A			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	312					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.P312A(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCTTGGTAGGGAGGTTGTTT	0.423																																						uc001ouu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(934-936)CCT>GCT		C2 calcium-dependent domain containing 3							133.0	122.0	126.0					11																	73849786		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73849786G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.934C>G	11.37:g.73849786G>C	ENSP00000334379:p.Pro312Ala					C2CD3_uc001ouv.2_Missense_Mutation_p.P312A	p.P312A	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			5	1161	-	Breast(11;4.16e-06)		312					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.934C>G		.	.	.	.	.	.	.	.	.	.	G	4.871	0.161925	0.09287	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.08720	3.07;3.06	5.77	4.81	0.61882	.	0.206551	0.41097	D	0.000948	T	0.09247	0.0228	L	0.50333	1.59	0.34215	D	0.674735	P;P	0.42078	0.714;0.77	B;B	0.40940	0.113;0.344	T	0.14924	-1.0455	10	0.13853	T	0.58	-12.8853	12.3687	0.55242	0.0:0.2575:0.7425:0.0	.	312;312	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	A	312	ENSP00000334379:P312A;ENSP00000323339:P312A	ENSP00000289350:P312A	P	-	1	0	C2CD3	73527434	1.000000	0.71417	0.972000	0.41901	0.031000	0.12232	2.669000	0.46825	2.730000	0.93505	0.655000	0.94253	CCT		PASS	0.423	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		82	79	82	79	---	---	---	---
GDPD4	220032	broad.mit.edu	37	11	76980007	76980007	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:76980007G>T	ENST00000376217.2	-	8	836	c.586C>A	c.(586-588)Ccc>Acc	p.P196T	GDPD4_ENST00000315938.4_Missense_Mutation_p.P196T|GDPD4_ENST00000527489.1_5'Flank			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	196					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.P196T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GTTGGCTTGGGCCCCAAATTC	0.458																																						uc001oyf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(586-588)CCC>ACC		glycerophosphodiester phosphodiesterase domain							144.0	141.0	142.0					11																	76980007		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76980007G>T	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.586C>A	11.37:g.76980007G>T	ENSP00000365390:p.Pro196Thr						p.P196T	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			8	837	-			196			Extracellular (Potential).		Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.586C>A		.	.	.	.	.	.	.	.	.	.	G	16.41	3.115936	0.56505	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.12879	2.64;2.64	5.07	5.07	0.68467	.	0.167439	0.53938	D	0.000051	T	0.39517	0.1081	M	0.79693	2.465	0.35834	D	0.825512	D	0.76494	0.999	D	0.70016	0.967	T	0.52682	-0.8543	10	0.87932	D	0	-6.63	15.4994	0.75684	0.0:0.0:1.0:0.0	.	196	Q6W3E5-2	.	T	196	ENSP00000365390:P196T;ENSP00000320815:P196T	ENSP00000320815:P196T	P	-	1	0	GDPD4	76657655	1.000000	0.71417	0.994000	0.49952	0.480000	0.33159	6.700000	0.74619	2.642000	0.89623	0.655000	0.94253	CCC		PASS	0.458	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		225	185	225	185	---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92881946	92881946	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:92881946G>C	ENST00000326402.4	-	11	1402	c.1272C>G	c.(1270-1272)agC>agG	p.S424R	SLC36A4_ENST00000529184.1_Missense_Mutation_p.S289R	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	424					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S424R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAATGTGCTGCTGCTCACAG	0.353																																						uc001pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1270-1272)AGC>AGG		solute carrier family 36 (proton/amino acid							62.0	67.0	65.0					11																	92881946		2200	4298	6498	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92881946G>C	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1272C>G	11.37:g.92881946G>C	ENSP00000317382:p.Ser424Arg					uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Missense_Mutation_p.S289R	p.S424R	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			11	1369	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	424			Helical; (Potential).		Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.1272C>G	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413630	0.62511	.	.	ENSG00000180773	ENST00000326402;ENST00000529184	T;T	0.02656	4.21;4.21	5.38	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.86740	2.835	0.47153	D	0.999331	D	0.89917	1.0	D	0.91635	0.999	T	0.00575	-1.1663	10	0.72032	D	0.01	-11.8002	10.5981	0.45349	0.2892:0.0:0.7108:0.0	.	424	Q6YBV0	S36A4_HUMAN	R	424;289	ENSP00000317382:S424R;ENSP00000436570:S289R	ENSP00000317382:S424R	S	-	3	2	SLC36A4	92521594	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.486000	0.53215	1.253000	0.44018	0.455000	0.32223	AGC		PASS	0.353	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			46	41	46	41	---	---	---	---
AMOTL1	154810	broad.mit.edu	37	11	94602404	94602404	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:94602404C>T	ENST00000433060.2	+	12	2671	c.2530C>T	c.(2530-2532)Cca>Tca	p.P844S	AMOTL1_ENST00000317829.8_Missense_Mutation_p.P794S|AMOTL1_ENST00000317837.9_Missense_Mutation_p.P431S	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	844					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.P845S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGCCTCTGCCCCACTGCTGCC	0.532																																						uc001pfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2530-2532)CCA>TCA		angiomotin like 1							28.0	37.0	34.0					11																	94602404		2148	4252	6400	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94602404C>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2530C>T	11.37:g.94602404C>T	ENSP00000387739:p.Pro844Ser					AMOTL1_uc001pfc.2_Missense_Mutation_p.P794S	p.P844S	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			12	2700	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	844					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.2530C>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	C	8.885	0.952582	0.18431	.	.	ENSG00000166025	ENST00000317829;ENST00000317837;ENST00000433060	T;T;T	0.45276	2.28;0.9;2.27	5.59	2.65	0.31530	.	0.172194	0.40908	D	0.000983	T	0.20740	0.0499	N	0.20766	0.605	0.22562	N	0.998987	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.14868	-1.0457	10	0.13853	T	0.58	-18.1521	4.3387	0.11099	0.1293:0.6135:0.1248:0.1324	.	794;844	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	S	794;431;844	ENSP00000320968:P794S;ENSP00000323474:P431S;ENSP00000387739:P844S	ENSP00000320968:P794S	P	+	1	0	AMOTL1	94242052	0.185000	0.23213	0.029000	0.17559	0.016000	0.09150	0.854000	0.27791	0.715000	0.32103	0.561000	0.74099	CCA		PASS	0.532	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		21	18	21	18	---	---	---	---
ATM	472	broad.mit.edu	37	11	108119810	108119810	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:108119810G>A	ENST00000452508.2	+	10	1405	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	ATM_ENST00000278616.4_Missense_Mutation_p.D406N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	406					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.D406N(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTCACAGAATGATTTTGATCT	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(1216-1218)GAT>AAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							133.0	127.0	129.0					11																	108119810		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108119810G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1216G>A	11.37:g.108119810G>A	ENSP00000388058:p.Asp406Asn	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.D406N	p.D406N	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	9	1601	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	406					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1216G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448447	0.84101	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02085	4.46;4.85;4.85	5.07	5.07	0.68467	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	M	0.66939	2.045	0.58432	D	0.999995	D	0.89917	1.0	D	0.70935	0.971	T	0.17961	-1.0352	10	0.27785	T	0.31	.	18.4131	0.90559	0.0:0.0:1.0:0.0	.	406	Q13315	ATM_HUMAN	N	406	ENSP00000435747:D406N;ENSP00000278616:D406N;ENSP00000388058:D406N	ENSP00000278616:D406N	D	+	1	0	ATM	107625020	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.758000	0.91663	2.499000	0.84300	0.563000	0.77884	GAT		PASS	0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		18	88	18	88	---	---	---	---
CLDN25	644672	broad.mit.edu	37	11	113650575	113650575	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:113650575G>T	ENST00000453129.2	+	1	107	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.G20C(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTCCCTCCTTGGCTGGGTCTG	0.547																																						uc009yyw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GGC>TGC		claudin 25							87.0	95.0	92.0					11																	113650575		2094	4231	6325	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650575G>T		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.58G>T	11.37:g.113650575G>T	ENSP00000396304:p.Gly20Cys						p.G20C	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	58	+			20			Helical; (Potential).			Missense_Mutation	SNP	ENST00000453129.2	37	c.58G>T	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658474	0.88154	.	.	ENSG00000228607	ENST00000453129	D	0.89810	-2.57	5.04	5.04	0.67666	.	.	.	.	.	D	0.96137	0.8741	H	0.95004	3.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97139	0.9823	9	0.87932	D	0	.	17.5374	0.87835	0.0:0.0:1.0:0.0	.	20	C9JDP6	CLD25_HUMAN	C	20	ENSP00000396304:G20C	ENSP00000396304:G20C	G	+	1	0	CLDN25	113155785	1.000000	0.71417	0.988000	0.46212	0.957000	0.61999	7.091000	0.76923	2.614000	0.88457	0.655000	0.94253	GGC		PASS	0.547	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		61	247	61	247	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119054075	119054075	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:119054075G>A	ENST00000409109.1	+	10	3442	c.2855G>A	c.(2854-2856)cGc>cAc	p.R952H	PDZD3_ENST00000392817.2_5'Flank|PDZD3_ENST00000355547.5_5'Flank|NLRX1_ENST00000409991.1_Missense_Mutation_p.R952H|PDZD3_ENST00000322712.4_5'Flank|PDZD3_ENST00000525131.1_5'Flank|NLRX1_ENST00000292199.2_Missense_Mutation_p.R952H|NLRX1_ENST00000409265.4_Intron|PDZD3_ENST00000531114.1_5'Flank|NLRX1_ENST00000525863.1_Intron	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	952	LRRCT.|Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.R952H(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AATCCTTGGCGCAAGGCCCAG	0.637																																						uc001pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2854-2856)CGC>CAC		NLR family member X1 isoform 1							45.0	47.0	46.0					11																	119054075		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119054075G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2855G>A	11.37:g.119054075G>A	ENSP00000387334:p.Arg952His					NLRX1_uc001pvv.2_Intron|NLRX1_uc001pvw.2_Missense_Mutation_p.R952H|NLRX1_uc001pvx.2_Missense_Mutation_p.R952H|PDZD3_uc001pvy.2_5'Flank|PDZD3_uc001pvz.2_5'Flank|PDZD3_uc010rzd.1_5'Flank|PDZD3_uc001pwa.2_5'Flank|PDZD3_uc001pwb.2_5'Flank	p.R952H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	3070	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	952			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2855G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329425	0.81690	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409109	T;T;T	0.73363	-0.74;-0.74;-0.74	5.48	4.56	0.56223	.	0.157867	0.44483	D	0.000453	T	0.79610	0.4475	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.80054	-0.1543	10	0.56958	D	0.05	.	11.302	0.49311	0.1469:0.0:0.8531:0.0	.	952	Q86UT6	NLRX1_HUMAN	H	952	ENSP00000386851:R952H;ENSP00000292199:R952H;ENSP00000387334:R952H	ENSP00000292199:R952H	R	+	2	0	NLRX1	118559285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.073000	0.41519	1.301000	0.44836	0.655000	0.94253	CGC		PASS	0.637	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		6	145	6	145	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125513737	125513737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr11:125513737G>T	ENST00000534070.1	+	9	1120	c.865G>T	c.(865-867)Gga>Tga	p.G289*	CHEK1_ENST00000427383.2_Nonsense_Mutation_p.G305*|CHEK1_ENST00000544373.1_Nonsense_Mutation_p.G289*|CHEK1_ENST00000524737.1_Nonsense_Mutation_p.G289*|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Nonsense_Mutation_p.G289*|CHEK1_ENST00000278916.3_Nonsense_Mutation_p.G289*|CHEK1_ENST00000438015.1_Nonsense_Mutation_p.G289*	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	289					cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.G289*(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTCTCCCAGTGGATTTTCTAA	0.388								Other conserved DNA damage response genes																														uc009zbo.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(3)|lung(2)|skin(1)	6						c.(865-867)GGA>TGA	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1							103.0	103.0	103.0					11																	125513737		2201	4299	6500	SO:0001587	stop_gained	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125513737G>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.865G>T	11.37:g.125513737G>T	ENSP00000435371:p.Gly289*					CHEK1_uc010sbh.1_Nonsense_Mutation_p.G305*|CHEK1_uc010sbi.1_Nonsense_Mutation_p.G289*|CHEK1_uc001qcf.3_Nonsense_Mutation_p.G289*|CHEK1_uc009zbp.2_Nonsense_Mutation_p.G289*|CHEK1_uc001qcg.3_Nonsense_Mutation_p.G289*|CHEK1_uc009zbq.2_Nonsense_Mutation_p.G289*|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_5'Flank	p.G289*	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	9	1757	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	289					A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Nonsense_Mutation	SNP	ENST00000534070.1	37	c.865G>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	44	10.924946	0.99489	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000278916	.	.	.	5.56	4.63	0.57726	.	0.251744	0.38959	N	0.001518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-10.8608	12.1066	0.53816	0.0827:0.0:0.9173:0.0	.	.	.	.	X	289;305;289;289;289;289;289	.	ENSP00000278916:G289X	G	+	1	0	CHEK1	125018947	0.945000	0.32115	1.000000	0.80357	0.955000	0.61496	2.483000	0.45233	2.636000	0.89361	0.655000	0.94253	GGA		PASS	0.388	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		22	39	22	39	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	280292	280292	+	Missense_Mutation	SNP	G	G	A	rs113137859		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:280292G>A	ENST00000538872.1	+	13	3197	c.3079G>A	c.(3079-3081)Gcg>Acg	p.A1027T	RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A724T|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A1027T|IQSEC3_ENST00000537151.1_3'UTR			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1027					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.A1027T(1)|p.A724T(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGGGAAGCCGCGCTCAGGGA	0.622																																						uc001qhw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(2170-2172)GCG>ACG		IQ motif and Sec7 domain 3		G	THR/ALA,THR/ALA	0,4406		0,0,2203	97.0	101.0	100.0		3079,2170	2.2	0.0	12	dbSNP_132	100	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	IQSEC3	NM_001170738.1,NM_015232.1	58,58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	1027/1183,724/760	280292	3,13003	2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:280292G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.3079G>A	12.37:g.280292G>A	ENSP00000437554:p.Ala1027Thr					IQSEC3_uc001qhu.1_Missense_Mutation_p.A724T	p.A724T	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	10	2176	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		1027					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2170G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	2.087	-0.409212	0.04799	0.0	3.49E-4	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.09911	5.77;5.77;2.93	4.16	2.18	0.27775	.	1.503800	0.03809	N	0.265562	T	0.09379	0.0231	L	0.44542	1.39	0.09310	N	1	B;B	0.31040	0.305;0.281	B;B	0.25291	0.017;0.059	T	0.35201	-0.9798	10	0.14656	T	0.56	.	5.168	0.15096	0.1225:0.2114:0.6661:0.0	.	1027;724	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	T	1027;1027;724	ENSP00000437554:A1027T;ENSP00000315662:A1027T;ENSP00000372292:A724T	ENSP00000315662:A1027T	A	+	1	0	IQSEC3	150553	0.001000	0.12720	0.003000	0.11579	0.146000	0.21551	0.665000	0.25083	0.940000	0.37473	0.561000	0.74099	GCG		PASS	0.622	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		9	183	9	183	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2224643	2224643	+	Silent	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:2224643C>A	ENST00000347598.4	+	2	303	c.303C>A	c.(301-303)ccC>ccA	p.P101P	CACNA1C_ENST00000399638.1_Silent_p.P101P|CACNA1C_ENST00000335762.5_Silent_p.P101P|CACNA1C_ENST00000327702.7_Silent_p.P101P|CACNA1C_ENST00000399603.1_Silent_p.P101P|CACNA1C_ENST00000399597.1_Silent_p.P101P|CACNA1C_ENST00000399621.1_Silent_p.P101P|CACNA1C_ENST00000344100.3_Silent_p.P101P|CACNA1C_ENST00000399617.1_Silent_p.P101P|CACNA1C_ENST00000399629.1_Silent_p.P101P|CACNA1C_ENST00000399634.1_Silent_p.P101P|CACNA1C_ENST00000480911.1_Silent_p.P101P|CACNA1C_ENST00000399591.1_Silent_p.P101P|CACNA1C_ENST00000399644.1_Silent_p.P101P|CACNA1C_ENST00000399649.1_Silent_p.P101P|CACNA1C_ENST00000399601.1_Silent_p.P101P|CACNA1C_ENST00000399637.1_Silent_p.P101P|CACNA1C_ENST00000399655.1_Silent_p.P101P|CACNA1C_ENST00000402845.3_Silent_p.P101P|CACNA1C_ENST00000399595.1_Silent_p.P101P|CACNA1C_ENST00000399641.1_Silent_p.P101P|CACNA1C_ENST00000399606.1_Silent_p.P101P|CACNA1C_ENST00000406454.3_Silent_p.P101P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	101					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P101P(3)|p.P131P(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CACGCCCGCCCCGAGCCCTGC	0.617																																						uc009zdu.1																			4	Substitution - coding silent(4)	p.A101E(1)	lung(4)	ovary(10)|central_nervous_system(1)	11						c.(301-303)CCC>CCA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						36.0	46.0	43.0					12																	2224643		2156	4273	6429	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2224643C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.303C>A	12.37:g.2224643C>A						CACNA1C_uc009zdv.1_Silent_p.P101P|CACNA1C_uc001qkb.2_Silent_p.P101P|CACNA1C_uc001qkc.2_Silent_p.P101P|CACNA1C_uc001qke.2_Silent_p.P101P|CACNA1C_uc001qkf.2_Silent_p.P101P|CACNA1C_uc001qjz.2_Silent_p.P101P|CACNA1C_uc001qkd.2_Silent_p.P101P|CACNA1C_uc001qkg.2_Silent_p.P101P|CACNA1C_uc009zdw.1_Silent_p.P101P|CACNA1C_uc001qkh.2_Silent_p.P101P|CACNA1C_uc001qkl.2_Silent_p.P101P|CACNA1C_uc001qkn.2_Silent_p.P101P|CACNA1C_uc001qko.2_Silent_p.P101P|CACNA1C_uc001qkp.2_Silent_p.P101P|CACNA1C_uc001qkr.2_Silent_p.P101P|CACNA1C_uc001qku.2_Silent_p.P101P|CACNA1C_uc001qkq.2_Silent_p.P101P|CACNA1C_uc001qks.2_Silent_p.P101P|CACNA1C_uc001qkt.2_Silent_p.P101P	p.P101P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	2	616	+			101			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.303C>A	CCDS44788.1																																																																																				PASS	0.617	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		55	17	55	17	---	---	---	---
CRACR2A	84766	broad.mit.edu	37	12	3763445	3763445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:3763445G>A	ENST00000252322.1	-	10	1447	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	EFCAB4B_ENST00000440314.2_Nonsense_Mutation_p.Q327*|EFCAB4B_ENST00000444507.1_Nonsense_Mutation_p.Q327*	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		327					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Q327*(2)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGAGCATCCTGGAGCTCCCAG	0.562																																						uc001qmj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(979-981)CAG>TAG		EF-hand calcium binding domain 4B isoform c							74.0	70.0	71.0					12																	3763445		2203	4300	6503	SO:0001587	stop_gained	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3763445G>A																												ENST00000252322.1:c.979C>T	12.37:g.3763445G>A	ENSP00000252322:p.Gln327*					EFCAB4B_uc010sen.1_Nonsense_Mutation_p.Q327*|EFCAB4B_uc010seo.1_Nonsense_Mutation_p.Q327*|EFCAB4B_uc001qmi.1_RNA	p.Q327*	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		10	1551	-			327			Potential.		B4E1X0|B9EK63	Nonsense_Mutation	SNP	ENST00000252322.1	37	c.979C>T	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155713	0.38021	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	.	.	.	4.27	3.37	0.38596	.	1.053770	0.07343	N	0.881106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-5.5809	10.6277	0.45516	0.0:0.4258:0.5742:0.0	.	.	.	.	X	327	.	ENSP00000252322:Q327X	Q	-	1	0	EFCAB4B	3633706	0.000000	0.05858	0.274000	0.24659	0.018000	0.09664	0.090000	0.15025	0.980000	0.38523	0.462000	0.41574	CAG		PASS	0.562	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			9	158	9	158	---	---	---	---
GPRC5A	9052	broad.mit.edu	37	12	13061273	13061273	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:13061273C>T	ENST00000014914.5	+	2	980	c.90C>T	c.(88-90)gtC>gtT	p.V30V	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	30					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V30V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGGCATCGTCCTAGAAACGG	0.552																																						uc001rba.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(88-90)GTC>GTT		G protein-coupled receptor, family C, group 5,	Tretinoin(DB00755)						86.0	81.0	83.0					12																	13061273		2203	4300	6503	SO:0001819	synonymous_variant	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061273C>T	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.90C>T	12.37:g.13061273C>T						GPRC5A_uc001raz.2_Silent_p.V30V	p.V30V	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	740	+		Prostate(47;0.141)	30			Extracellular (Potential).		B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.90C>T	CCDS8657.1																																																																																				PASS	0.552	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			144	62	144	62	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22676469	22676469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:22676469C>A	ENST00000333957.4	-	7	946	c.691G>T	c.(691-693)Gag>Tag	p.E231*	C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.E231*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.E33*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.E231*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.E231*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.E231*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.E231*	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	231					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.E231*(1)|p.E33*(1)									AACCCAGACTCGCCCTCCAGA	0.473																																						uc001rfq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(691-693)GAG>TAG		hypothetical protein LOC9847							146.0	131.0	136.0					12																	22676469		2203	4300	6503	SO:0001587	stop_gained	9847						protein binding	g.chr12:22676469C>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.691G>T	12.37:g.22676469C>A	ENSP00000334229:p.Glu231*					KIAA0528_uc010sir.1_Nonsense_Mutation_p.E33*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.E231*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.E231*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.E231*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.E231*|KIAA0528_uc009ziy.1_Nonsense_Mutation_p.E231*	p.E231*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			7	919	-			231					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Nonsense_Mutation	SNP	ENST00000333957.4	37	c.691G>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	37	6.055121	0.97241	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930;ENST00000544281	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.4728	18.8083	0.92047	0.0:1.0:0.0:0.0	.	.	.	.	X	231;231;231;231;231;231;33;30	.	ENSP00000334229:E231X	E	-	1	0	KIAA0528	22567736	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.801000	0.85960	2.426000	0.82243	0.591000	0.81541	GAG		PASS	0.473	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		86	55	86	55	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48390401	48390401	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:48390401G>A	ENST00000380518.3	-	8	703	c.539C>T	c.(538-540)gCt>gTt	p.A180V	COL2A1_ENST00000337299.6_Missense_Mutation_p.A111V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	180					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A180V(1)|p.A111V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CATCTGGGCAGCAAAGTTCTG	0.468																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(538-540)GCT>GTT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						196.0	196.0	196.0					12																	48390401		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48390401G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.539C>T	12.37:g.48390401G>A	ENSP00000369889:p.Ala180Val					COL2A1_uc001rqv.2_Missense_Mutation_p.A111V	p.A180V	NM_001844	NP_001835	P02458	CO2A1_HUMAN			8	720	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	180					A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.539C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240783	0.58995	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.90004	-2.6;-2.58	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	N	0.16368	0.405	0.58432	D	0.999997	B;B	0.34264	0.392;0.446	B;B	0.40165	0.215;0.321	D	0.84424	0.0573	10	0.66056	D	0.02	.	13.4616	0.61231	0.0:0.1584:0.8416:0.0	.	111;180	P02458-1;P02458	.;CO2A1_HUMAN	V	180;111;111	ENSP00000369889:A180V;ENSP00000338213:A111V	ENSP00000338213:A111V	A	-	2	0	COL2A1	46676668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.533000	0.81994	2.644000	0.89710	0.563000	0.77884	GCT		PASS	0.468	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		6	806	6	806	---	---	---	---
NUP107	57122	broad.mit.edu	37	12	69126449	69126449	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:69126449G>T	ENST00000229179.4	+	23	2363	c.2031G>T	c.(2029-2031)tgG>tgT	p.W677C	NUP107_ENST00000539906.1_Missense_Mutation_p.W648C|NUP107_ENST00000378905.2_Missense_Mutation_p.W438C|NUP107_ENST00000401003.3_3'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	677					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore 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 process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.W677C(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TAATTGACTGGTTGGTATTTG	0.318																																						uc001suf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2029-2031)TGG>TGT		nucleoporin 107kDa							64.0	71.0	69.0					12																	69126449		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69126449G>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2031G>T	12.37:g.69126449G>T	ENSP00000229179:p.Trp677Cys					NUP107_uc001sug.2_Missense_Mutation_p.W436C|NUP107_uc010stj.1_Missense_Mutation_p.W648C	p.W677C	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		23	2146	+	Breast(13;6.25e-06)		677					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.2031G>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728453	0.48833	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	4.98	4.07	0.47477	.	0.052350	0.85682	N	0.000000	T	0.80660	0.4665	M	0.85777	2.775	0.52501	D	0.999959	D;B;D	0.89917	1.0;0.034;1.0	D;B;D	0.97110	1.0;0.025;1.0	D	0.83873	0.0275	8	.	.	.	-8.6507	15.4223	0.75022	0.0:0.0:0.8593:0.1407	.	648;438;677	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	C	677;438;648	.	.	W	+	3	0	NUP107	67412716	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	8.814000	0.91968	1.394000	0.46624	-0.309000	0.09137	TGG		PASS	0.318	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		43	58	43	58	---	---	---	---
CNOT2	4848	broad.mit.edu	37	12	70731262	70731262	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:70731262A>C	ENST00000418359.3	+	10	1320	c.869A>C	c.(868-870)gAt>gCt	p.D290A	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.D290A	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	290					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.D290A(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCTATAAAGATCCAACATCA	0.353																																						uc001svv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)GAT>GCT		CCR4-NOT transcription complex, subunit 2							99.0	98.0	98.0					12																	70731262		2203	4299	6502	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70731262A>C	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.869A>C	12.37:g.70731262A>C	ENSP00000412091:p.Asp290Ala					CNOT2_uc009zro.2_Missense_Mutation_p.D290A|CNOT2_uc009zrp.2_Missense_Mutation_p.D270A|CNOT2_uc009zrq.2_Missense_Mutation_p.D290A|CNOT2_uc001svw.1_Missense_Mutation_p.D30A	p.D290A	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		9	1448	+	Renal(347;0.236)		290					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.869A>C	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.612194	0.46631	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000552483;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	L	0.43152	1.355	0.80722	D	1	B;B	0.17268	0.02;0.021	B;B	0.20384	0.029;0.02	T	0.58934	-0.7548	10	0.18276	T	0.48	-7.8571	16.3863	0.83505	1.0:0.0:0.0:0.0	.	290;290	Q9NZN8-4;Q9NZN8	.;CNOT2_HUMAN	A	290;290;290;153;229;144;281;290;100	ENSP00000450318:D290A;ENSP00000229195:D290A;ENSP00000412091:D290A;ENSP00000448490:D153A;ENSP00000447497:D229A;ENSP00000449659:D281A;ENSP00000449260:D290A;ENSP00000448499:D100A	ENSP00000229195:D290A	D	+	2	0	CNOT2	69017529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.264000	0.75181	0.528000	0.53228	GAT		PASS	0.353	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			12	57	12	57	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81545793	81545793	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:81545793C>T	ENST00000548058.1	+	7	1926	c.1016C>T	c.(1015-1017)gCt>gTt	p.A339V	ACSS3_ENST00000548324.1_Missense_Mutation_p.A21V|ACSS3_ENST00000261206.3_Missense_Mutation_p.A338V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	339						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.A339V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGTGGGCAGCTTCTGACTTA	0.343																																						uc001szl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1015-1017)GCT>GTT		acyl-CoA synthetase short-chain family member 3							103.0	102.0	102.0					12																	81545793		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81545793C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1016C>T	12.37:g.81545793C>T	ENSP00000449535:p.Ala339Val					ACSS3_uc001szm.1_Missense_Mutation_p.A338V|ACSS3_uc001szn.1_Missense_Mutation_p.A21V	p.A339V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			7	1107	+			339					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1016C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263884	0.95399	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.39406	1.08;1.08;1.08	5.74	5.74	0.90152	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	L	0.58583	1.82	0.80722	D	1	D;P	0.67145	0.996;0.928	D;P	0.64410	0.925;0.72	T	0.62937	-0.6748	10	0.87932	D	0	-12.2848	19.9187	0.97077	0.0:1.0:0.0:0.0	.	21;339	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	V	339;338;21	ENSP00000449535:A339V;ENSP00000261206:A338V;ENSP00000448965:A21V	ENSP00000261206:A338V	A	+	2	0	ACSS3	80069924	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.784000	0.85713	2.716000	0.92895	0.557000	0.71058	GCT		PASS	0.343	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		28	33	28	33	---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119617322	119617322	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:119617322G>T	ENST00000281938.2	+	1	876	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	69					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.V69L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCGGGCATGGTGCCCCGGGG	0.682																																						uc001txb.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(205-207)GTG>TTG		heat shock 22kDa protein 8							38.0	44.0	42.0					12																	119617322		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617322G>T	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.205G>T	12.37:g.119617322G>T	ENSP00000281938:p.Val69Leu					HSPB8_uc001txc.2_Missense_Mutation_p.V69L	p.V69L	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN			1	728	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		69					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.205G>T	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	G	3.445	-0.113315	0.06881	.	.	ENSG00000152137	ENST00000281938	D	0.86030	-2.06	4.42	3.5	0.40072	.	0.588982	0.15722	N	0.247858	T	0.76751	0.4031	L	0.47716	1.5	0.31545	N	0.659504	B	0.22003	0.063	B	0.14578	0.011	T	0.70676	-0.4806	9	.	.	.	.	6.162	0.20370	0.0789:0.1308:0.6559:0.1344	.	69	Q9UJY1	HSPB8_HUMAN	L	69	ENSP00000281938:V69L	.	V	+	1	0	HSPB8	118101705	1.000000	0.71417	0.997000	0.53966	0.448000	0.32197	2.228000	0.42981	2.294000	0.77228	0.563000	0.77884	GTG		PASS	0.682	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		78	75	78	75	---	---	---	---
ANAPC5	51433	broad.mit.edu	37	12	121773465	121773465	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:121773465A>G	ENST00000261819.3	-	7	942	c.821T>C	c.(820-822)cTc>cCc	p.L274P	ANAPC5_ENST00000441917.2_Missense_Mutation_p.L175P|ANAPC5_ENST00000344395.4_Missense_Mutation_p.L175P|ANAPC5_ENST00000541887.1_Missense_Mutation_p.L274P|ANAPC5_ENST00000536366.1_Missense_Mutation_p.L153P|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	274					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.L274P(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATAATGGAGGAGACTGTGTGT	0.413																																						uc001uag.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|kidney(1)	6						c.(820-822)CTC>CCC		anaphase-promoting complex subunit 5 isoform a							113.0	113.0	113.0					12																	121773465		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121773465A>G	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.821T>C	12.37:g.121773465A>G	ENSP00000261819:p.Leu274Pro					ANAPC5_uc001uae.2_5'UTR|ANAPC5_uc010szv.1_5'UTR|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.L175P|ANAPC5_uc001uai.1_5'UTR	p.L274P	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN			7	943	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		274					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.821T>C	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684800	0.88639	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.87456	2.885	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.68765	0.942;0.96	D	0.86513	0.1811	9	0.87932	D	0	.	15.8087	0.78538	1.0:0.0:0.0:0.0	.	175;274	E9PFB2;Q9UJX4	.;APC5_HUMAN	P	175;274;274;175;153;175	.	ENSP00000261819:L274P	L	-	2	0	ANAPC5	120257848	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.602000	0.90868	2.330000	0.79161	0.529000	0.55759	CTC		PASS	0.413	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			5	211	5	211	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122685401	122685401	+	Missense_Mutation	SNP	G	G	A	rs199768950		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:122685401G>A	ENST00000339777.4	+	10	1757	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T	B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.A392T|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	577								p.A577T(1)|p.A392T(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCCCTGCTCGCCGGGGAGCC	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15348	0.0		0.0	False		,,,				2504	0.0					uc009zxm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1729-1731)GCC>ACC		leucine rich repeat containing 43 isoform 1							27.0	34.0	32.0					12																	122685401		1975	4137	6112	SO:0001583	missense	254050							g.chr12:122685401G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1729G>A	12.37:g.122685401G>A	ENSP00000344233:p.Ala577Thr					LRRC43_uc001ubw.3_Missense_Mutation_p.A392T|LRRC43_uc009zxn.2_Missense_Mutation_p.A338T|B3GNT4_uc001ubx.2_5'Flank|B3GNT4_uc001uby.2_5'Flank	p.A577T	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	10	1754	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		577					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1729G>A	CCDS45001.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.467	1.094611	0.20471	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56776	0.44;0.87	5.31	0.765	0.18470	.	0.587151	0.17029	N	0.189783	T	0.44201	0.1282	L	0.56769	1.78	0.09310	N	1	P	0.38020	0.615	B	0.35182	0.197	T	0.32561	-0.9902	10	0.52906	T	0.07	-7.1462	8.9393	0.35720	0.0767:0.0:0.4838:0.4395	.	577	Q8N309	LRC43_HUMAN	T	577;448;392	ENSP00000344233:A577T;ENSP00000416628:A392T	ENSP00000289014:A448T	A	+	1	0	LRRC43	121251354	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.331000	0.19733	0.207000	0.20607	-0.283000	0.09986	GCC		PASS	0.672	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		7	125	7	125	---	---	---	---
AMER2	219287	broad.mit.edu	37	13	25745389	25745389	+	Silent	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr13:25745389C>A	ENST00000515384.1	-	1	1036	c.369G>T	c.(367-369)ccG>ccT	p.P123P	AMER2_ENST00000381853.3_Silent_p.P123P|AMER2_ENST00000357816.2_Silent_p.P123P|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	123	Gly-rich.				ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.P123P(2)									ccccgccgcGCGGCTCCTCCT	0.786																																						uc001uqb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|lung(1)	4						c.(367-369)CCG>CCT		hypothetical protein LOC219287 isoform 1							7.0	7.0	7.0					13																	25745389		2111	4076	6187	SO:0001819	synonymous_variant	219287							g.chr13:25745389C>A	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.369G>T	13.37:g.25745389C>A						FAM123A_uc001uqa.2_Silent_p.P123P|FAM123A_uc001uqc.2_Silent_p.P123P	p.P123P	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	469	-		Lung SC(185;0.0225)|Breast(139;0.0602)	123			Gly-rich.		Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.369G>T	CCDS53859.1																																																																																				PASS	0.786	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		9	3	9	3	---	---	---	---
KL	9365	broad.mit.edu	37	13	33635674	33635674	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr13:33635674G>C	ENST00000380099.3	+	4	2466	c.2458G>C	c.(2458-2460)Gat>Cat	p.D820H	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	820	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.D820H(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGAAAAAGAAGATCCAATAAA	0.438																																						uc001uus.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2458-2460)GAT>CAT		klotho precursor							74.0	75.0	75.0					13																	33635674		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635674G>C	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2458G>C	13.37:g.33635674G>C	ENSP00000369442:p.Asp820His					KL_uc001uur.1_3'UTR	p.D820H	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2466	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	820			Glycosyl hydrolase-1 2.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2458G>C	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287892	0.40494	.	.	ENSG00000133116	ENST00000380099	T	0.31247	1.5	5.91	5.06	0.68205	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.142477	0.64402	D	0.000008	T	0.51805	0.1696	M	0.76328	2.33	0.58432	D	0.999993	D	0.63046	0.992	D	0.67900	0.954	T	0.48980	-0.8986	10	0.48119	T	0.1	-24.4797	11.7565	0.51878	0.1336:0.0:0.8664:0.0	.	820	Q9UEF7	KLOT_HUMAN	H	820	ENSP00000369442:D820H	ENSP00000369442:D820H	D	+	1	0	KL	32533674	1.000000	0.71417	0.997000	0.53966	0.260000	0.26232	4.385000	0.59613	2.813000	0.96785	0.655000	0.94253	GAT		PASS	0.438	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			52	54	52	54	---	---	---	---
HTR2A	3356	broad.mit.edu	37	13	47409423	47409423	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr13:47409423C>T	ENST00000378688.4	-	3	1096	c.965G>A	c.(964-966)tGc>tAc	p.C322Y	HTR2A_ENST00000542664.1_Missense_Mutation_p.C322Y|HTR2A_ENST00000543956.1_Missense_Mutation_p.C238Y			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	322					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.C322Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGCACCTTGCATGCCTTTTG	0.512																																						uc001vbq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(964-966)TGC>TAC		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						174.0	135.0	148.0					13																	47409423		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409423C>T	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.965G>A	13.37:g.47409423C>T	ENSP00000367959:p.Cys322Tyr					HTR2A_uc001vbr.2_Missense_Mutation_p.C222Y|HTR2A_uc010acr.2_Missense_Mutation_p.C322Y	p.C322Y	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1099	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	322			Cytoplasmic (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.965G>A	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679901	0.68042	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.71817	-0.6;-0.6;-0.6	5.87	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.051688	0.85682	D	0.000000	T	0.58337	0.2115	N	0.08118	0	0.48975	D	0.999731	P;P	0.42961	0.795;0.723	P;P	0.46885	0.491;0.53	T	0.65113	-0.6247	10	0.72032	D	0.01	.	13.1454	0.59459	0.0:0.6837:0.3163:0.0	.	238;322	F5GWE8;P28223	.;5HT2A_HUMAN	Y	322;238;322	ENSP00000367959:C322Y;ENSP00000441861:C238Y;ENSP00000437737:C322Y	ENSP00000367959:C322Y	C	-	2	0	HTR2A	46307424	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.140000	0.77322	2.941000	0.99782	0.655000	0.94253	TGC		PASS	0.512	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		69	46	69	46	---	---	---	---
CDADC1	81602	broad.mit.edu	37	13	49852631	49852631	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr13:49852631C>A	ENST00000251108.6	+	7	1309	c.1196C>A	c.(1195-1197)gCg>gAg	p.A399E	CDADC1_ENST00000444959.1_Missense_Mutation_p.A201E	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	399							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.A399E(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATCATACATGCGGAACAGAAT	0.353																																						uc001vcu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1195-1197)GCG>GAG		cytidine and dCMP deaminase domain containing 1							235.0	205.0	215.0					13																	49852631		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49852631C>A	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1196C>A	13.37:g.49852631C>A	ENSP00000251108:p.Ala399Glu					CDADC1_uc010tgk.1_Missense_Mutation_p.A201E|CDADC1_uc001vcv.2_RNA	p.A399E	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	7	1272	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	399					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.1196C>A	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216175	0.79352	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.74947	-0.89;-0.89	5.62	4.78	0.61160	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	H	0.96333	3.805	0.58432	D	0.999992	D	0.76494	0.999	D	0.71184	0.972	D	0.92525	0.6028	10	0.87932	D	0	-8.5006	13.5488	0.61719	0.0:0.9251:0.0:0.0749	.	399	Q9BWV3	CDAC1_HUMAN	E	399;201	ENSP00000251108:A399E;ENSP00000407226:A201E	ENSP00000251108:A399E	A	+	2	0	CDADC1	48750632	1.000000	0.71417	0.374000	0.26016	0.842000	0.47809	7.101000	0.76997	1.370000	0.46153	0.650000	0.86243	GCG		PASS	0.353	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		137	119	137	119	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101756667	101756667	+	Silent	SNP	T	T	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr13:101756667T>A	ENST00000251127.6	-	25	2949	c.2868A>T	c.(2866-2868)gtA>gtT	p.V956V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	956					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.V956V(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATATGTCCATTACTCCACCGA	0.353																																						uc001vox.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2866-2868)GTA>GTT		voltage gated channel like 1							80.0	81.0	81.0					13																	101756667		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101756667T>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2868A>T	13.37:g.101756667T>A							p.V956V	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			25	3057	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		956			Helical; Name=S3 of repeat III; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.2868A>T	CCDS9498.1																																																																																				PASS	0.353	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		43	48	43	48	---	---	---	---
OR11H6	122748	broad.mit.edu	37	14	20692373	20692373	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr14:20692373G>A	ENST00000315519.2	+	1	583	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G169S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATGCTGGGTAGGCGGATTTCT	0.493																																						uc010tlc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(505-507)GGC>AGC		olfactory receptor, family 11, subfamily H,							94.0	93.0	93.0					14																	20692373		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692373G>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.505G>A	14.37:g.20692373G>A	ENSP00000319071:p.Gly169Ser						p.G169S	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	505	+	all_cancers(95;0.00108)		169			Helical; Name=4; (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.505G>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	G	0.139	-1.104582	0.01828	.	.	ENSG00000176219	ENST00000315519	T	0.37058	1.22	4.97	-0.0443	0.13855	GPCR, rhodopsin-like superfamily (1);	0.331970	0.26499	N	0.024040	T	0.14485	0.0350	N	0.11651	0.15	0.18873	N	0.999982	B	0.02656	0.0	B	0.11329	0.006	T	0.16012	-1.0417	10	0.21540	T	0.41	.	4.3929	0.11350	0.4802:0.0:0.366:0.1538	.	169	Q8NGC7	O11H6_HUMAN	S	169	ENSP00000319071:G169S	ENSP00000319071:G169S	G	+	1	0	OR11H6	19762213	0.000000	0.05858	0.998000	0.56505	0.079000	0.17450	-2.217000	0.01220	0.080000	0.16959	-0.417000	0.06048	GGC		PASS	0.493	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			166	324	166	324	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35280155	35280155	+	Silent	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr14:35280155T>C	ENST00000382422.2	-	4	951	c.624A>G	c.(622-624)aaA>aaG	p.K208K	BAZ1A_ENST00000360310.1_Silent_p.K208K|BAZ1A_ENST00000358716.4_Silent_p.K208K			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	208					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.K208K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTTGTGTTGCTTTAACAATAG	0.308																																						uc001wsk.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(622-624)AAA>AAG		bromodomain adjacent to zinc finger domain, 1A							142.0	135.0	137.0					14																	35280155		2203	4296	6499	SO:0001819	synonymous_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35280155T>C	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.624A>G	14.37:g.35280155T>C						BAZ1A_uc001wsl.2_Silent_p.K208K|BAZ1A_uc001wsm.1_Silent_p.K208K	p.K208K	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	5	1192	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		208					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	37	c.624A>G	CCDS9651.1																																																																																				PASS	0.308	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			43	18	43	18	---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39560828	39560828	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr14:39560828C>G	ENST00000307712.6	-	5	973	c.456G>C	c.(454-456)caG>caC	p.Q152H	SEC23A_ENST00000536508.1_Missense_Mutation_p.Q26H|SEC23A_ENST00000537403.1_5'Flank|SEC23A_ENST00000545328.2_Missense_Mutation_p.Q123H	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	152					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.Q152H(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTAATGACATCTGCATGGATT	0.383																																						uc001wup.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)	5						c.(454-456)CAG>CAC		SEC23-related protein A							121.0	115.0	117.0					14																	39560828		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39560828C>G	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.456G>C	14.37:g.39560828C>G	ENSP00000306881:p.Gln152His					SEC23A_uc010tqa.1_Missense_Mutation_p.Q14H|SEC23A_uc010tqb.1_Missense_Mutation_p.Q123H|SEC23A_uc010tqc.1_Missense_Mutation_p.Q14H	p.Q152H	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	5	679	-	Hepatocellular(127;0.213)		152					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.456G>C	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093867	0.20471	.	.	ENSG00000100934	ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645;ENST00000555017	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.46	3.64	0.41730	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.67382	0.91;0.917;0.951;0.95	D	0.83907	0.0293	10	0.13853	T	0.58	-7.9688	6.6798	0.23113	0.0:0.6021:0.0:0.3979	.	40;123;26;152	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	H	152;26;123;40;152	ENSP00000306881:Q152H;ENSP00000437715:Q26H;ENSP00000445393:Q123H;ENSP00000450819:Q152H	ENSP00000306881:Q152H	Q	-	3	2	SEC23A	38630579	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	2.098000	0.41757	0.668000	0.31126	0.563000	0.77884	CAG		PASS	0.383	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			4	170	4	170	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64687205	64687205	+	Missense_Mutation	SNP	C	C	A	rs201444715		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr14:64687205C>A	ENST00000344113.4	+	110	20054	c.19842C>A	c.(19840-19842)aaC>aaA	p.N6614K	SYNE2_ENST00000458046.2_Missense_Mutation_p.N271K|SYNE2_ENST00000555022.1_Missense_Mutation_p.N492K|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6637K|SYNE2_ENST00000555002.1_Missense_Mutation_p.N3271K|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2999K|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6530K|SYNE2_ENST00000554805.1_Missense_Mutation_p.N397K|SYNE2_ENST00000441438.2_Missense_Mutation_p.N145K|SYNE2_ENST00000357395.3_Missense_Mutation_p.N2999K|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6614					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.N6637K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTCTGTCAACGTGAGCAGCA	0.522																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(19840-19842)AAC>AAA		spectrin repeat containing, nuclear envelope 2							73.0	71.0	72.0					14																	64687205		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64687205C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19842C>A	14.37:g.64687205C>A	ENSP00000341781:p.Asn6614Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.N6637K|SYNE2_uc010apy.2_Missense_Mutation_p.N2999K|SYNE2_uc001xgn.2_Missense_Mutation_p.N1576K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.N584K|SYNE2_uc001xgq.2_Missense_Mutation_p.N979K|SYNE2_uc001xgr.2_Missense_Mutation_p.N397K|SYNE2_uc010tsi.1_Missense_Mutation_p.N271K|SYNE2_uc001xgs.2_Missense_Mutation_p.N271K|SYNE2_uc001xgt.2_Missense_Mutation_p.N145K	p.N6614K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	110	20072	+			6614			Cytoplasmic (Potential).|Spectrin 9.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.19842C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	4.914	0.169792	0.09339	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	6.17	0.239	0.15484	.	0.327612	0.25391	N	0.031019	T	0.66839	0.2830	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.998;0.998;0.998;0.989;0.991;1.0	D;D;D;D;D;P;D;D	0.76575	0.965;0.988;0.946;0.922;0.985;0.702;0.961;0.976	T	0.68096	-0.5499	10	0.87932	D	0	.	11.6518	0.51292	0.0:0.6129:0.0:0.3871	.	271;2999;145;271;1002;6530;6614;6637	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	K	6637;2999;6614;6530;6536;3271;2999;492;397;271;145	ENSP00000350719:N6637K;ENSP00000349969:N2999K;ENSP00000341781:N6614K;ENSP00000452570:N6530K;ENSP00000450831:N3271K;ENSP00000378249:N2999K;ENSP00000451009:N492K;ENSP00000450605:N397K;ENSP00000391937:N271K;ENSP00000396794:N145K	ENSP00000261678:N6536K	N	+	3	2	SYNE2	63756958	0.523000	0.26274	0.004000	0.12327	0.002000	0.02628	0.139000	0.16036	-0.218000	0.10018	-0.751000	0.03497	AAC		PASS	0.522	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		42	39	42	39	---	---	---	---
ITPK1	3705	broad.mit.edu	37	14	93424701	93424701	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr14:93424701A>C	ENST00000267615.6	-	8	688	c.515T>G	c.(514-516)gTg>gGg	p.V172G	ITPK1_ENST00000354313.3_Missense_Mutation_p.V172G|ITPK1_ENST00000555495.1_Missense_Mutation_p.V53G|ITPK1_ENST00000556603.2_Missense_Mutation_p.V172G|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.V172G(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTGGTTGAACACGATAGCCAT	0.562																																						uc001ybg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(514-516)GTG>GGG		inositol 1,3,4-triphosphate 5/6 kinase isoform							93.0	84.0	87.0					14																	93424701		2203	4300	6503	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93424701A>C	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.515T>G	14.37:g.93424701A>C	ENSP00000267615:p.Val172Gly					ITPK1_uc001ybe.2_Missense_Mutation_p.V172G|ITPK1_uc001ybf.2_Missense_Mutation_p.V53G|ITPK1_uc001ybh.2_Missense_Mutation_p.V172G	p.V172G	NM_014216	NP_055031	Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	8	804	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	172			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.515T>G	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450866	0.84209	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458;ENST00000554999;ENST00000556185;ENST00000555553	T	0.11495	2.77	5.22	5.22	0.72569	ATP-grasp fold (1);	0.173740	0.47852	D	0.000215	T	0.28699	0.0711	M	0.65677	2.01	0.80722	D	1	D;D	0.63880	0.993;0.982	P;P	0.61070	0.883;0.557	T	0.01869	-1.1257	10	0.87932	D	0	-4.0665	15.1357	0.72562	1.0:0.0:0.0:0.0	.	172;172	Q13572;Q13572-2	ITPK1_HUMAN;.	G	172;202;172;53;172;172;130;190;178	ENSP00000346272:V172G	ENSP00000267615:V172G	V	-	2	0	ITPK1	92494454	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.163000	0.94750	1.971000	0.57363	0.533000	0.62120	GTG		PASS	0.562	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		78	41	78	41	---	---	---	---
SERPINA5	5104	broad.mit.edu	37	14	95054287	95054287	+	Silent	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr14:95054287C>A	ENST00000554866.1	+	2	702	c.588C>A	c.(586-588)gtC>gtA	p.V196V	SERPINA5_ENST00000329597.7_Silent_p.V196V|SERPINA5_ENST00000554276.1_Silent_p.V196V|SERPINA5_ENST00000553780.1_Silent_p.V196V			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	196					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V196V(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCAATGCGGTCGTGATCATGG	0.453																																						uc001ydm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(586-588)GTC>GTA		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						153.0	140.0	144.0					14																	95054287		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054287C>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.588C>A	14.37:g.95054287C>A						SERPINA5_uc010ave.2_Silent_p.V196V|SERPINA5_uc001ydn.1_Silent_p.V196V	p.V196V	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	798	+			196					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.588C>A	CCDS9928.1																																																																																				PASS	0.453	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		5	399	5	399	---	---	---	---
MIR380	494329	broad.mit.edu	37	14	101491380	101491380	+	RNA	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr14:101491380T>C	ENST00000362112.2	-	0	61				MIR299_ENST00000385016.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR411_ENST00000362239.2_RNA|MIR379_ENST00000362218.3_RNA|MIR1197_ENST00000408818.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR758_ENST00000390227.1_RNA|MIR329-1_ENST00000385028.1_RNA	NR_029872.1				microRNA 380																		GAACATGCGCTATCTCTGTGT	0.493																																						hsa-mir-380|MI0000788																			0					0															100.0	90.0	93.0					14																	101491380		1568	3581	5149			494329							g.chr14:101491380T>C			14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101491380T>C						uc010awb.1_RNA|MIR1197_hsa-mir-1197|MI0006656_5'Flank|uc001yjy.1_5'Flank|MIR323_hsa-mir-323|MI0000807_5'Flank|MIR758_hsa-mir-758|MI0003757_5'Flank|MIR329-1_hsa-mir-329-1|MI0001725_5'Flank|MIR329-2_hsa-mir-329-2|MI0001726_5'Flank										+									RNA	SNP	ENST00000362112.2	37	c.27T>C																																																																																					PASS	0.493	MIR380-201	KNOWN	basic	miRNA	miRNA		NR_029872		16	4	16	4	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34151810	34151810	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr15:34151810C>A	ENST00000389232.4	+	100	14247	c.14177C>A	c.(14176-14178)gCa>gAa	p.A4726E	RYR3_ENST00000415757.3_Missense_Mutation_p.A4721E|RP11-3D4.3_ENST00000560404.1_RNA|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4726					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.A4725E(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)		GGAGTGAGAGCAGGAGGTGGC	0.413																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(14176-14178)GCA>GAA		ryanodine receptor 3							263.0	252.0	256.0					15																	34151810		2007	4174	6181	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34151810C>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.14177C>A	15.37:g.34151810C>A	ENSP00000373884:p.Ala4726Glu					RYR3_uc010bar.2_Missense_Mutation_p.A4721E	p.A4726E	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)	100	14247	+		all_lung(180;7.18e-09)	4726			Helical; Name=M9; (Potential).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.14177C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278911	0.95489	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.93189	-3.18	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96987	0.9016	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.974;1.0	D	0.97125	0.9814	10	0.87932	D	0	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	4721;4726	Q15413-2;Q15413	.;RYR3_HUMAN	E	4726;4722	ENSP00000373884:A4726E	ENSP00000354735:A4722E	A	+	2	0	RYR3	31939102	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.534000	0.82004	2.884000	0.98904	0.655000	0.94253	GCA		PASS	0.413	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	92	7	92	---	---	---	---
LTK	4058	broad.mit.edu	37	15	41800368	41800368	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr15:41800368T>C	ENST00000263800.6	-	9	1244	c.1148A>G	c.(1147-1149)cAc>cGc	p.H383R	LTK_ENST00000355166.5_Missense_Mutation_p.H322R|LTK_ENST00000561619.1_Missense_Mutation_p.H65R|LTK_ENST00000453182.2_Missense_Mutation_p.H322R	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	383					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.H322R(1)|p.H383R(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		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;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAAAGGGCAGTGACTGCAGTT	0.532										TSP Lung(18;0.14)																												uc001zoa.3																			2	Substitution - Missense(2)		lung(2)	lung(6)|central_nervous_system(1)	7						c.(1147-1149)CAC>CGC		leukocyte receptor tyrosine kinase isoform 1							158.0	134.0	142.0					15																	41800368		2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41800368T>C	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1148A>G	15.37:g.41800368T>C	ENSP00000263800:p.His383Arg	TSP Lung(18;0.14)				LTK_uc001zob.3_Missense_Mutation_p.H322R|LTK_uc010ucx.1_Missense_Mutation_p.H322R|LTK_uc010bcg.2_Missense_Mutation_p.H65R	p.H383R	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	9	1326	-		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)	383			Extracellular (Potential).		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1148A>G	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688019	0.68271	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.77750	-0.99;-0.76;-1.12	5.18	4.04	0.47022	.	0.000000	0.35772	U	0.002988	D	0.84813	0.5555	M	0.66939	2.045	0.27687	N	0.946232	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.991;0.933;1.0;0.999	T	0.77096	-0.2714	10	0.45353	T	0.12	.	10.3717	0.44058	0.1469:0.0:0.0:0.8531	.	322;322;322;383	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	R	383;322;383;322	ENSP00000347293:H322R;ENSP00000263800:H383R;ENSP00000392196:H322R	ENSP00000263800:H383R	H	-	2	0	LTK	39587660	1.000000	0.71417	0.979000	0.43373	0.745000	0.42441	5.108000	0.64609	0.794000	0.33899	0.459000	0.35465	CAC		PASS	0.532	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			76	89	76	89	---	---	---	---
HMGN2P46	283651	broad.mit.edu	37	15	45848083	45848083	+	lincRNA	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr15:45848083C>A	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							AATGGAGATGCCAAAACAGAC	0.453																																						uc010beg.1										T					ETV1		prostate		0					0								Homo sapiens cDNA FLJ39426 fis, clone PROST2000505.							53.0	49.0	51.0					15																	45848083		2195	4295	6490			283651							g.chr15:45848083C>A																													15.37:g.45848083C>A						C15orf21_uc010beh.1_RNA|C15orf21_uc010bei.1_RNA|C15orf21_uc010bej.1_RNA|C15orf21_uc001zvm.1_RNA|C15orf21_uc001zvn.1_RNA							all cancers(107;3.03e-17)|GBM - Glioblastoma multiforme(94;7.36e-07)	6		+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)							RNA	SNP	ENST00000557965.1	37	c.1078C>A																																																																																					PASS	0.453	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			17	116	17	116	---	---	---	---
LIPC	3990	broad.mit.edu	37	15	58853108	58853108	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr15:58853108C>A	ENST00000356113.6	+	9	1712	c.1097C>A	c.(1096-1098)aCa>aAa	p.T366K	LIPC_ENST00000414170.3_Missense_Mutation_p.T366K|LIPC_ENST00000299022.5_Missense_Mutation_p.T366K|LIPC_ENST00000433326.2_Missense_Mutation_p.T305K			P11150	LIPC_HUMAN	lipase, hepatic	366	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.T366K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAAACTGAGACACCAATACAA	0.393																																						uc010bga.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1096-1098)ACA>AAA		lipase C precursor							93.0	81.0	85.0					15																	58853108		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58853108C>A		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1097C>A	15.37:g.58853108C>A	ENSP00000348425:p.Thr366Lys					LIPC_uc010bfz.1_Missense_Mutation_p.T366K|LIPC_uc002afa.1_Missense_Mutation_p.T366K|LIPC_uc010bgb.1_Missense_Mutation_p.T264K|LIPC_uc010ugy.1_Missense_Mutation_p.T305K	p.T366K	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	9	1705	+		Colorectal(260;0.215)	366			PLAT.		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.1097C>A	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	0.126	-1.118861	0.01785	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.79	-0.921	0.10472	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.669226	0.13942	N	0.352150	T	0.25005	0.0607	N	0.02315	-0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.27905	-1.0060	10	0.02654	T	1	.	5.0348	0.14428	0.4839:0.3483:0.0602:0.1076	.	305;366	E7EUK6;P11150	.;LIPC_HUMAN	K	366;366;366;305	ENSP00000348425:T366K;ENSP00000395569:T366K;ENSP00000299022:T366K;ENSP00000395002:T305K	ENSP00000299022:T366K	T	+	2	0	LIPC	56640400	0.171000	0.23029	0.086000	0.20670	0.004000	0.04260	0.761000	0.26489	-0.403000	0.07622	-1.594000	0.00841	ACA		PASS	0.393	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			12	29	12	29	---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65625636	65625636	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr15:65625636G>A	ENST00000327987.4	-	6	1192	c.941C>T	c.(940-942)aCc>aTc	p.T314I	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	314	Ig-like C2-type 3.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.T314I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCACCCGGGTGCCAGGTCT	0.632																																						uc002aos.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(940-942)ACC>ATC		putative neuronal cell adhesion molecule							77.0	60.0	66.0					15																	65625636		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65625636G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.941C>T	15.37:g.65625636G>A	ENSP00000332773:p.Thr314Ile						p.T314I	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			6	1193	-			314			Extracellular (Potential).|Ig-like C2-type 3.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.941C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589606	0.66105	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.67523	-0.27	5.17	5.17	0.71159	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83985	0.0334	10	0.87932	D	0	-33.6843	18.69	0.91580	0.0:0.0:1.0:0.0	.	314	Q8IVU1	IGDC3_HUMAN	I	314;177	ENSP00000332773:T314I	ENSP00000332773:T314I	T	-	2	0	IGDCC3	63412689	1.000000	0.71417	0.997000	0.53966	0.091000	0.18340	9.505000	0.97989	2.419000	0.82065	0.655000	0.94253	ACC		PASS	0.632	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		52	50	52	50	---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85327839	85327839	+	Missense_Mutation	SNP	G	G	A	rs200137485		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr15:85327839G>A	ENST00000560079.2	+	4	2221	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	ZNF592_ENST00000299927.3_Missense_Mutation_p.V645I	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	645					cell death (GO:0008219)|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.V645I(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAAGGGGCTCGTCATGCAGTG	0.602																																						uc002bld.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|skin(2)	6						c.(1933-1935)GTC>ATC		zinc finger protein 592							106.0	78.0	87.0					15																	85327839		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327839G>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1933G>A	15.37:g.85327839G>A	ENSP00000452877:p.Val645Ile					ZNF592_uc010upb.1_RNA	p.V645I	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	2269	+			645					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1933G>A	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454524	0.43634	.	.	ENSG00000166716	ENST00000299927	T	0.30714	1.52	5.88	5.88	0.94601	.	0.112221	0.64402	D	0.000009	T	0.26376	0.0644	N	0.12569	0.235	0.45108	D	0.998129	D	0.55605	0.972	P	0.53224	0.721	T	0.02437	-1.1159	10	0.27785	T	0.31	-28.2826	11.0631	0.47959	0.0835:0.0:0.9165:0.0	.	645	Q92610	ZN592_HUMAN	I	645	ENSP00000299927:V645I	ENSP00000299927:V645I	V	+	1	0	ZNF592	83128843	1.000000	0.71417	0.970000	0.41538	0.992000	0.81027	4.532000	0.60608	2.774000	0.95407	0.655000	0.94253	GTC		PASS	0.602	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		5	92	5	92	---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1545579	1545579	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr16:1545579G>A	ENST00000262319.6	+	3	847	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	190					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.E190K(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCTGCTCGGCGAGGAGGTCGT	0.667																																						uc002cly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)GAG>AAG		TEL2, telomere maintenance 2, homolog							55.0	54.0	54.0					16																	1545579		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1545579G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.568G>A	16.37:g.1545579G>A	ENSP00000262319:p.Glu190Lys					TELO2_uc010uvg.1_Missense_Mutation_p.E190K	p.E190K	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			3	859	+		Hepatocellular(780;0.219)	190					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.568G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	0.283	-0.985087	0.02180	.	.	ENSG00000100726	ENST00000262319	D	0.84146	-1.81	5.33	2.24	0.28232	.	0.606981	0.17329	N	0.178207	T	0.71567	0.3355	L	0.33485	1.01	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.51872	-0.8650	10	0.06099	T	0.92	-8.2415	7.8494	0.29446	0.1488:0.1373:0.7138:0.0	.	190	Q9Y4R8	TELO2_HUMAN	K	190	ENSP00000262319:E190K	ENSP00000262319:E190K	E	+	1	0	TELO2	1485580	0.053000	0.20554	0.013000	0.15412	0.012000	0.07955	0.899000	0.28417	0.224000	0.20940	-0.793000	0.03317	GAG		PASS	0.667	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		4	176	4	176	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	10031933	10031933	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr16:10031933C>A	ENST00000396573.2	-	4	1199	c.890G>T	c.(889-891)gGc>gTc	p.G297V	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G297V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G140V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G297V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G297V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G297V|GRIN2A_ENST00000566670.1_5'Flank	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	297					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.G297V(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTTAGGATGCCAATGCCGTC	0.572																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(889-891)GGC>GTC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						89.0	68.0	75.0					16																	10031933		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10031933C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.890G>T	16.37:g.10031933C>A	ENSP00000379818:p.Gly297Val					GRIN2A_uc010uym.1_Missense_Mutation_p.G297V|GRIN2A_uc010uyn.1_Missense_Mutation_p.G140V|GRIN2A_uc002czr.3_Missense_Mutation_p.G297V	p.G297V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			3	1438	-			297			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.890G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	18.45	3.627473	0.66901	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	M	0.68317	2.08	0.80722	D	1	P;P;D	0.69078	0.887;0.908;0.997	P;P;P	0.61070	0.511;0.719;0.883	T	0.00243	-1.1884	9	.	.	.	.	18.0961	0.89490	0.0:1.0:0.0:0.0	.	140;297;297	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	297;297;140;297;297	ENSP00000379818:G297V;ENSP00000385872:G297V;ENSP00000441572:G140V;ENSP00000332549:G297V;ENSP00000379820:G297V	.	G	-	2	0	GRIN2A	9939434	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	3.837000	0.55820	2.582000	0.87167	0.561000	0.74099	GGC		PASS	0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			78	53	78	53	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20329723	20329723	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr16:20329723C>T	ENST00000381362.4	-	8	1122	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	GP2_ENST00000302555.5_Missense_Mutation_p.G346E|GP2_ENST00000381360.5_Missense_Mutation_p.G202E|GP2_ENST00000341642.5_Missense_Mutation_p.G199E|GP2_ENST00000573897.1_Intron	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	349	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.G346E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AATGAACTCTCCATTCCCGTC	0.473																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1045-1047)GGA>GAA		zymogen granule membrane glycoprotein 2 isoform							252.0	215.0	227.0					16																	20329723		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20329723C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1046G>A	16.37:g.20329723C>T	ENSP00000370767:p.Gly349Glu					GP2_uc002dgw.2_Missense_Mutation_p.G346E|GP2_uc002dgx.2_Missense_Mutation_p.G202E|GP2_uc002dgy.2_Missense_Mutation_p.G199E	p.G349E	NM_001007240	NP_001007241	P55259	GP2_HUMAN			8	1129	-			349			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1046G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847126	0.71603	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.8	5.8	0.92144	Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.94528	0.8238	M	0.93462	3.42	0.50813	D	0.999899	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95405	0.8493	9	0.87932	D	0	-20.1184	17.5568	0.87892	0.0:1.0:0.0:0.0	.	199;327;346;349	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	E	346;349;202;199;327	ENSP00000304044:G346E;ENSP00000370767:G349E;ENSP00000370765:G202E;ENSP00000343861:G199E	ENSP00000304044:G346E	G	-	2	0	GP2	20237224	0.976000	0.34144	0.997000	0.53966	0.256000	0.26092	1.457000	0.35212	2.741000	0.93983	0.650000	0.86243	GGA		PASS	0.473	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		175	162	175	162	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20570631	20570631	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr16:20570631C>T	ENST00000329697.6	-	3	484	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	ACSM2B_ENST00000414188.2_Missense_Mutation_p.G106R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G27R|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G106R|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G106R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	106					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.G106R(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACACGATCCCCACGCTGCAGG	0.562																																						uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(316-318)GGG>AGG		acyl-CoA synthetase medium-chain family member							62.0	49.0	53.0					16																	20570631		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570631C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.316G>A	16.37:g.20570631C>T	ENSP00000327453:p.Gly106Arg					ACSM2B_uc002dhk.3_Missense_Mutation_p.G106R|ACSM2B_uc010bwf.1_Missense_Mutation_p.G106R	p.G106R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			4	526	-			106					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.316G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896015	0.52121	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.62105	0.05;0.05	3.51	3.51	0.40186	AMP-dependent synthetase/ligase (1);	0.000000	0.45126	D	0.000388	T	0.79417	0.4442	M	0.84082	2.675	0.41578	D	0.988724	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83861	0.0268	10	0.87932	D	0	-21.2539	13.969	0.64228	0.0:1.0:0.0:0.0	.	106;106	A8K051;Q68CK6	.;ACS2B_HUMAN	R	106	ENSP00000327453:G106R;ENSP00000390378:G106R	ENSP00000327453:G106R	G	-	1	0	ACSM2B	20478132	0.978000	0.34361	0.867000	0.34043	0.033000	0.12548	4.045000	0.57368	1.794000	0.52575	0.609000	0.83330	GGG		PASS	0.562	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		4	86	4	86	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24918057	24918057	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr16:24918057C>A	ENST00000569071.1	+	9	953	c.688C>A	c.(688-690)Caa>Aaa	p.Q230K	SLC5A11_ENST00000424767.2_Silent_p.P327P|SLC5A11_ENST00000565769.1_Silent_p.P298P|SLC5A11_ENST00000567758.1_Silent_p.P327P|SLC5A11_ENST00000449109.2_Missense_Mutation_p.Q230K|SLC5A11_ENST00000568579.1_Silent_p.P292P|SLC5A11_ENST00000545376.1_Silent_p.P292P|SLC5A11_ENST00000347898.3_Silent_p.P362P|SLC5A11_ENST00000539472.1_Silent_p.P298P					solute carrier family 5 (sodium/inositol cotransporter), member 11									p.P362P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TCGCGTATCCCAAACTCGTGC	0.557											OREG0023688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1084-1086)CCC>CCA		solute carrier family 5 (sodium/glucose							99.0	81.0	87.0					16																	24918057		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24918057C>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000569071.1:c.688C>A	16.37:g.24918057C>A	ENSP00000456376:p.Gln230Lys		OREG0023688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	775	SLC5A11_uc002dms.2_Silent_p.P298P|SLC5A11_uc010vcd.1_Silent_p.P327P|SLC5A11_uc002dmt.2_Missense_Mutation_p.Q230K|SLC5A11_uc010vce.1_Silent_p.P292P|SLC5A11_uc010bxt.2_Silent_p.P298P|SLC5A11_uc002dmv.2_5'Flank	p.P362P	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	11	1318	+			362			Extracellular (Potential).			Silent	SNP	ENST00000569071.1	37	c.1086C>A	CCDS58440.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687998	0.29962	.	.	ENSG00000158865	ENST00000449109	D	0.83419	-1.72	5.73	3.62	0.41486	.	.	.	.	.	T	0.77883	0.4197	.	.	.	0.80722	D	1	B	0.25719	0.132	B	0.24155	0.051	T	0.77446	-0.2585	8	0.87932	D	0	.	12.3697	0.55248	0.3051:0.6949:0.0:0.0	.	230	Q05BF1	.	K	230	ENSP00000389606:Q230K	ENSP00000389606:Q230K	Q	+	1	0	SLC5A11	24825558	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.141000	0.31528	1.385000	0.46445	0.563000	0.77884	CAA		PASS	0.557	SLC5A11-006	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435852.1	NM_052944		4	113	4	113	---	---	---	---
FUK	197258	broad.mit.edu	37	16	70504960	70504960	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr16:70504960G>A	ENST00000288078.6	+	12	1387	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	FUK_ENST00000571514.1_5'UTR|FUK_ENST00000378912.2_Silent_p.Q417Q	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	385						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.Q385Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCGTCCTGCAGCACTGCCACC	0.687																																						uc002eyy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1153-1155)CAG>CAA		fucokinase							15.0	20.0	18.0					16																	70504960		2118	4253	6371	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70504960G>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1155G>A	16.37:g.70504960G>A						FUK_uc010cft.2_Silent_p.Q417Q|FUK_uc002eyz.2_5'UTR	p.Q385Q	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			12	1213	+		Ovarian(137;0.0694)	385					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.1155G>A	CCDS10891.2																																																																																				PASS	0.687	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		3	17	3	17	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74487200	74487200	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr16:74487200G>A	ENST00000422840.2	-	26	3404	c.3405C>T	c.(3403-3405)gcC>gcT	p.A1135A	GLG1_ENST00000205061.5_Silent_p.A1135A|GLG1_ENST00000447066.2_Silent_p.A1124A	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1135					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.A1135A(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTACTTGCATGGCAAGATCAG	0.488																																						uc002fcy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(3403-3405)GCC>GCT		golgi apparatus protein 1 isoform 3							128.0	108.0	115.0					16																	74487200		2198	4300	6498	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74487200G>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3405C>T	16.37:g.74487200G>A						GLG1_uc002fcx.2_Silent_p.A1135A|GLG1_uc002fcw.3_Silent_p.A1124A|GLG1_uc002fcz.3_Silent_p.A552A	p.A1135A	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			26	3455	-			1135			Extracellular (Potential).		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.3405C>T	CCDS45527.1																																																																																				PASS	0.488	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		6	137	6	137	---	---	---	---
MLKL	197259	broad.mit.edu	37	16	74725174	74725174	+	Splice_Site	SNP	C	C	T	rs144019045		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr16:74725174C>T	ENST00000308807.7	-	4	1186		c.e4+1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						aaacaacttacgcaatgcTGC	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18916	0.0		0.0	False		,,,				2504	0.0					uc002fdb.2																			1	Unknown(1)		lung(1)	stomach(2)	2						c.e4+1		mixed lineage kinase domain-like isoform 1		C	,	1,4395	2.1+/-5.4	0,1,2197	226.0	230.0	228.0		,	4.2	0.9	16	dbSNP_134	228	1,8599	1.2+/-3.3	0,1,4299	no	intron,splice-5	MLKL	NM_001142497.1,NM_152649.2	,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,	,	74725174	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74725174C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.722+1G>A	16.37:g.74725174C>T						MLKL_uc002fdc.2_Intron	p.A241_splice	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN			4	1163	-									Splice_Site	SNP	ENST00000308807.7	37	c.722_splice	CCDS32487.1																																																																																				PASS	0.438	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	Intron	16	617	16	617	---	---	---	---
FAM57A	79850	broad.mit.edu	37	17	641210	641210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:641210C>T	ENST00000308278.8	+	3	567	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FAM57A_ENST00000301324.8_Nonsense_Mutation_p.R111*|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	111	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R111*(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CCTCACTCTTCGAAACTTCCT	0.517																																						uc002frp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(331-333)CGA>TGA		family with sequence similarity 57, member A							184.0	157.0	166.0					17																	641210		2203	4300	6503	SO:0001587	stop_gained	79850					integral to membrane|plasma membrane		g.chr17:641210C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.331C>T	17.37:g.641210C>T	ENSP00000312017:p.Arg111*					FAM57A_uc002frq.2_Nonsense_Mutation_p.R111*|FAM57A_uc002frr.2_Nonsense_Mutation_p.R21*	p.R111*	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	372	+			111			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Nonsense_Mutation	SNP	ENST00000308278.8	37	c.331C>T	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320912	0.41096	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	.	.	.	5.89	3.77	0.43336	.	0.598453	0.16703	N	0.203051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0097	8.7043	0.34345	0.4003:0.5227:0.0:0.077	.	.	.	.	X	111;111;184	.	ENSP00000301324:R111X	R	+	1	2	FAM57A	587960	0.013000	0.17824	0.117000	0.21633	0.019000	0.09904	1.155000	0.31700	1.465000	0.48006	-0.304000	0.09214	CGA		PASS	0.517	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		9	390	9	390	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1792101	1792101	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:1792101T>C	ENST00000254719.5	+	14	1617	c.1507T>C	c.(1507-1509)Tgc>Cgc	p.C503R		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	503					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)	p.C503R(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CTGTGAGAAGTGCGACACCGA	0.493								Nucleotide excision repair (NER)																														uc002fto.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1507-1509)TGC>CGC	NER	replication protein A1							138.0	113.0	122.0					17																	1792101		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1792101T>C	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1507T>C	17.37:g.1792101T>C	ENSP00000254719:p.Cys503Arg						p.C503R	NM_002945	NP_002936	P27694	RFA1_HUMAN			14	1622	+			503			C4-type (Potential).		A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.1507T>C	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697832	0.88830	.	.	ENSG00000132383	ENST00000254719	T	0.70516	-0.49	6.17	6.17	0.99709	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.89525	0.6740	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92566	0.6062	10	0.87932	D	0	-17.192	16.8222	0.85835	0.0:0.0:0.0:1.0	.	503	P27694	RFA1_HUMAN	R	503	ENSP00000254719:C503R	ENSP00000254719:C503R	C	+	1	0	RPA1	1738851	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TGC		PASS	0.493	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		64	102	64	102	---	---	---	---
METTL16	79066	broad.mit.edu	37	17	2323574	2323574	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:2323574G>C	ENST00000263092.6	-	10	1506	c.1379C>G	c.(1378-1380)cCg>cGg	p.P460R	METTL16_ENST00000538844.1_Missense_Mutation_p.P242R|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	460							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.P460R(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CGTGGGTTCCGGGTTTTCCTC	0.632																																						uc002fut.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1378-1380)CCG>CGG		methyltransferase 10 domain containing							96.0	102.0	100.0					17																	2323574		1884	4111	5995	SO:0001583	missense	79066						methyltransferase activity	g.chr17:2323574G>C	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1379C>G	17.37:g.2323574G>C	ENSP00000263092:p.Pro460Arg					METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Missense_Mutation_p.P242R	p.P460R	NM_024086	NP_076991	Q86W50	MET16_HUMAN			10	1527	-			460					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	c.1379C>G	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894300	0.33442	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.42513	1.0;0.97	5.87	3.78	0.43462	.	0.664722	0.16299	N	0.220531	T	0.35799	0.0944	L	0.44542	1.39	0.09310	N	1	P	0.52692	0.955	B	0.43331	0.416	T	0.23368	-1.0190	10	0.66056	D	0.02	-1.4093	8.4828	0.33054	0.0862:0.0:0.7328:0.181	.	460	Q86W50	MET16_HUMAN	R	460;140;242	ENSP00000263092:P460R;ENSP00000443633:P242R	ENSP00000263092:P460R	P	-	2	0	METTL16	2270324	0.011000	0.17503	0.782000	0.31804	0.911000	0.54048	1.235000	0.32671	1.486000	0.48398	0.650000	0.86243	CCG		PASS	0.632	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		193	308	193	308	---	---	---	---
TRPV3	162514	broad.mit.edu	37	17	3419752	3419752	+	Splice_Site	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:3419752G>A	ENST00000576742.1	-	16	2518	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	TRPV3_ENST00000301365.4_Splice_Site_p.R733W|SPATA22_ENST00000541913.1_5'Flank|TRPV3_ENST00000572519.1_Splice_Site_p.R733W	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	733					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.R733W(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CTTTGTTACCGCAAACACAGT	0.537																																						uc002fvt.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(4)	4						c.(2197-2199)CGG>TGG		transient receptor potential cation channel,	Menthol(DB00825)						113.0	102.0	106.0					17																	3419752		2203	4300	6503	SO:0001630	splice_region_variant	162514					integral to membrane	calcium channel activity	g.chr17:3419752G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.2198+1C>T	17.37:g.3419752G>A						SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.R717W|TRPV3_uc010vri.1_Missense_Mutation_p.R688W|TRPV3_uc010vrj.1_Missense_Mutation_p.R717W|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.R717W|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.R733W|TRPV3_uc002fvu.2_Missense_Mutation_p.R733W	p.R733W	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			16	2519	-			733			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.2197C>T	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	g	16.48	3.135361	0.56828	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.91464	-2.85	5.55	-2.37	0.06643	.	0.000000	0.64402	D	0.000002	D	0.93956	0.8065	M	0.71871	2.18	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0;1.0;1.0	D;P;D;D;D;D;D	0.91635	0.997;0.854;0.998;0.909;0.999;0.998;0.999	D	0.93220	0.6608	10	0.87932	D	0	-11.9485	17.7174	0.88341	0.0:0.0:0.1932:0.8068	.	717;717;733;717;733;733;733	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	W	733;733;717	ENSP00000301365:R733W	ENSP00000301365:R733W	R	-	1	2	TRPV3	3366502	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	0.603000	0.24149	-0.156000	0.11079	0.650000	0.86243	CGG		PASS	0.537	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068	Missense_Mutation	4	174	4	174	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656|rs397516437		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)GGC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	113.0	126.0					17																	7577547		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.chr17:7577547C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val	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.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V	p.G245V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	928	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		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.734G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		PASS	0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		82	56	82	56	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7837842	7837842	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:7837842G>A	ENST00000563694.1	+	3	1340	c.415G>A	c.(415-417)Gat>Aat	p.D139N	CNTROB_ENST00000380255.3_Missense_Mutation_p.D139N|TRAPPC1_ENST00000303731.4_5'Flank|CNTROB_ENST00000565740.1_Missense_Mutation_p.D139N|TRAPPC1_ENST00000540486.1_5'Flank|CNTROB_ENST00000380262.3_Missense_Mutation_p.D139N	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	139					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.D139N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTTTGACAGTGATAGCACAGC	0.512																																						uc002gjq.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(415-417)GAT>AAT		centrobin, centrosomal BRCA2 interacting protein							112.0	90.0	97.0					17																	7837842		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7837842G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.415G>A	17.37:g.7837842G>A	ENSP00000456335:p.Asp139Asn					TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.D139N|CNTROB_uc002gjr.2_Missense_Mutation_p.D41N|CNTROB_uc010vum.1_5'Flank	p.D139N	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			4	1334	+		Prostate(122;0.173)	139					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.415G>A	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029759	0.93518	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.49432	1.3;0.78	5.03	5.03	0.67393	.	0.087206	0.46442	D	0.000297	T	0.43166	0.1235	N	0.17082	0.46	0.38124	D	0.937949	P;P;P	0.50272	0.933;0.933;0.59	P;P;B	0.51324	0.548;0.666;0.35	T	0.41161	-0.9524	10	0.34782	T	0.22	-8.4952	15.3868	0.74708	0.0:0.0:1.0:0.0	.	139;139;139	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	N	139	ENSP00000369614:D139N;ENSP00000369605:D139N	ENSP00000369605:D139N	D	+	1	0	CNTROB	7778567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.913000	0.63341	2.614000	0.88457	0.563000	0.77884	GAT		PASS	0.512	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		17	163	17	163	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7840481	7840481	+	Splice_Site	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:7840481G>A	ENST00000563694.1	+	7	1753		c.e7-1		CNTROB_ENST00000380255.3_Splice_Site|CNTROB_ENST00000565740.1_Splice_Site|CNTROB_ENST00000380262.3_Splice_Site	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein						centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTTCCTGAAAGACAGTAACCC	0.468																																						uc002gjq.2																			1	Unknown(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.e8-1		centrobin, centrosomal BRCA2 interacting protein							152.0	154.0	153.0					17																	7840481		2203	4300	6503	SO:0001630	splice_region_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7840481G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.829-1G>A	17.37:g.7840481G>A						CNTROB_uc002gjp.2_Splice_Site_p.T277_splice|CNTROB_uc002gjr.2_Splice_Site_p.T179_splice|CNTROB_uc010vum.1_5'Flank	p.T277_splice	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			8	1748	+		Prostate(122;0.173)						A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Splice_Site	SNP	ENST00000563694.1	37	c.829_splice	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856947	0.71834	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1087	0.81244	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTROB	7781206	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.940000	0.63533	2.880000	0.98712	0.655000	0.94253	.		PASS	0.468	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051	Intron	40	654	40	654	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16004652	16004652	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:16004652C>A	ENST00000268712.3	-	20	2859	c.2602G>T	c.(2602-2604)Gcc>Tcc	p.A868S	NCOR1_ENST00000395848.1_Missense_Mutation_p.A775S|RNU6-314P_ENST00000516574.1_RNA|NCOR1_ENST00000583226.1_5'Flank|NCOR1_ENST00000395851.1_Missense_Mutation_p.A884S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	868					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A868S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCCTTTGGGCATTTATTTGC	0.498																																						uc002gpo.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(2602-2604)GCC>TCC		nuclear receptor co-repressor 1							188.0	174.0	179.0					17																	16004652		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16004652C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2602G>T	17.37:g.16004652C>A	ENSP00000268712:p.Ala868Ser					NCOR1_uc002gpn.2_Missense_Mutation_p.A884S|NCOR1_uc002gpp.1_Missense_Mutation_p.A775S|NCOR1_uc002gpr.2_Missense_Mutation_p.A775S	p.A868S	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	20	2842	-			868					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.2602G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947925	0.18356	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.29917	3.47;1.55;1.55	5.15	-5.11	0.02901	.	1.592570	0.03129	N	0.164969	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.14144	-1.0483	10	0.14656	T	0.56	.	3.9628	0.09418	0.0951:0.2045:0.1873:0.5131	.	775;868;884	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	S	868;884;775;775	ENSP00000268712:A868S;ENSP00000379192:A884S;ENSP00000379189:A775S	ENSP00000268712:A868S	A	-	1	0	NCOR1	15945377	0.000000	0.05858	0.000000	0.03702	0.770000	0.43624	-1.197000	0.03038	-0.974000	0.03550	-0.781000	0.03364	GCC		PASS	0.498	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		51	247	51	247	---	---	---	---
PSMD3	5709	broad.mit.edu	37	17	38152592	38152592	+	Splice_Site	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:38152592G>A	ENST00000264639.4	+	10	1650		c.e10+1		PSMD3_ENST00000541736.1_Splice_Site	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GTCTGTCAAGGTGAGAAGCCC	0.552																																					Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1																			1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)	2						c.e10+1		proteasome 26S non-ATPase subunit 3							139.0	134.0	136.0					17																	38152592		2203	4300	6503	SO:0001630	splice_region_variant	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38152592G>A	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1476+1G>A	17.37:g.38152592G>A						PSMD3_uc010wen.1_Splice_Site|PSMD3_uc010weo.1_Splice_Site_p.K393_splice	p.K492_splice	NM_002809	NP_002800	O43242	PSMD3_HUMAN			10	1640	+	Colorectal(19;0.000442)							B3KMW9|B4DT72|Q96EI2|Q9BQA4	Splice_Site	SNP	ENST00000264639.4	37	c.1476_splice	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257063	0.80246	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736;ENST00000540504	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5256	0.90971	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMD3	35406118	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.832000	0.99423	2.455000	0.83008	0.561000	0.74099	.		PASS	0.552	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809	Intron	12	394	12	394	---	---	---	---
KRT9	3857	broad.mit.edu	37	17	39727856	39727856	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:39727856C>A	ENST00000246662.4	-	1	454	c.389G>T	c.(388-390)gGg>gTg	p.G130V	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	130	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G130V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ccccccaaacccactcccata	0.547																																						uc002hxe.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(388-390)GGG>GTG		keratin 9							134.0	156.0	149.0					17																	39727856		2203	4298	6501	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39727856C>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.389G>T	17.37:g.39727856C>A	ENSP00000246662:p.Gly130Val					JUP_uc010wfs.1_Intron	p.G130V	NM_000226	NP_000217	P35527	K1C9_HUMAN			1	455	-		Breast(137;0.000307)	130			Head.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.389G>T	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368067	0.24771	.	.	ENSG00000171403	ENST00000246662	D	0.87412	-2.25	2.97	2.97	0.34412	.	.	.	.	.	D	0.84365	0.5456	N	0.08118	0	0.28326	N	0.922025	D	0.76494	0.999	D	0.71184	0.972	T	0.76107	-0.3080	9	0.51188	T	0.08	.	9.522	0.39140	0.0:1.0:0.0:0.0	.	130	P35527	K1C9_HUMAN	V	130	ENSP00000246662:G130V	ENSP00000246662:G130V	G	-	2	0	KRT9	36981382	0.986000	0.35501	0.009000	0.14445	0.012000	0.07955	4.852000	0.62904	1.640000	0.50565	0.573000	0.79308	GGG		PASS	0.547	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		18	43	18	43	---	---	---	---
KLHL11	55175	broad.mit.edu	37	17	40021156	40021156	+	Silent	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:40021156G>T	ENST00000319121.3	-	1	528	c.468C>A	c.(466-468)gcC>gcA	p.A156A	ACLY_ENST00000588779.1_5'Flank	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	156	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.A156A(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ACTCGATTACGGCTTCCACTG	0.687																																						uc002hyf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)GCC>GCA		kelch-like 11 precursor							30.0	29.0	30.0					17																	40021156		2202	4295	6497	SO:0001819	synonymous_variant	55175					extracellular region		g.chr17:40021156G>T		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.468C>A	17.37:g.40021156G>T							p.A156A	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			1	474	-		Breast(137;0.00156)	156			BTB.			Silent	SNP	ENST00000319121.3	37	c.468C>A	CCDS11411.1																																																																																				PASS	0.687	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		38	37	38	37	---	---	---	---
HSD17B1	3292	broad.mit.edu	37	17	40705530	40705530	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:40705530C>T	ENST00000585807.1	+	3	4059	c.339C>T	c.(337-339)gaC>gaT	p.D113D	RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.D113D	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	113					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.D113D(1)		NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	CTGTGCTGGACGTGAATGTAG	0.672																																						uc002hzw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(337-339)GAC>GAT		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						58.0	55.0	56.0					17																	40705530		2203	4300	6503	SO:0001819	synonymous_variant	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40705530C>T		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.339C>T	17.37:g.40705530C>T						HSD17B1_uc002hzx.2_Silent_p.D113D|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Silent_p.T17T|HSD17B1_uc010cyi.2_Silent_p.D144D	p.D113D	NM_000413	NP_000404	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	3	1307	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	113					B3KXS1|Q2M2L8	Silent	SNP	ENST00000585807.1	37	c.339C>T	CCDS11428.1																																																																																				PASS	0.672	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		6	137	6	137	---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42328845	42328845	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:42328845C>T	ENST00000262418.6	-	18	2578	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	808	Membrane (anion exchange).		R -> C (in SPH4; Jablonec). {ECO:0000269|PubMed:7530501}.|R -> H (in SPH4; Nara). {ECO:0000269|PubMed:10745622}.		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.R808H(1)|p.R808P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAGCAAGATGCGGTCAAAGAG	0.587																																						uc002igf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3	GRCh37	CM973089	SLC4A1	M		c.(2422-2424)CGC>CAC		solute carrier family 4, anion exchanger, member							131.0	117.0	122.0					17																	42328845		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42328845C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2423G>A	17.37:g.42328845C>T	ENSP00000262418:p.Arg808His						p.R808H	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	18	2572	-		Breast(137;0.014)|Prostate(33;0.0181)	808		R -> H (in SPH4; Nara).|R -> C (in SPH4; Jablonec).	Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.2423G>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311650	0.95655	.	.	ENSG00000004939	ENST00000262418	D	0.86562	-2.14	5.22	5.22	0.72569	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96200	0.8761	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97607	1.0127	10	0.87932	D	0	.	18.7637	0.91864	0.0:1.0:0.0:0.0	.	808	P02730	B3AT_HUMAN	H	808	ENSP00000262418:R808H	ENSP00000262418:R808H	R	-	2	0	SLC4A1	39684371	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.701000	0.84566	2.579000	0.87056	0.561000	0.74099	CGC		PASS	0.587	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		4	209	4	209	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56051849	56051849	+	Silent	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:56051849T>C	ENST00000581208.1	-	6	1591	c.1551A>G	c.(1549-1551)acA>acG	p.T517T	VEZF1_ENST00000584396.1_Silent_p.T508T	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	517					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T517T(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AAGGCGGTGATGTAGGCAAAG	0.383																																						uc002ivf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1549-1551)ACA>ACG		zinc finger protein 161							103.0	92.0	96.0					17																	56051849		2203	4300	6503	SO:0001819	synonymous_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56051849T>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1551A>G	17.37:g.56051849T>C							p.T517T	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			6	1694	-			517						Silent	SNP	ENST00000581208.1	37	c.1551A>G	CCDS32687.1																																																																																				PASS	0.383	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			70	127	70	127	---	---	---	---
GH1	2688	broad.mit.edu	37	17	61995723	61995723	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:61995723C>A	ENST00000323322.5	-	2	196	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	GH1_ENST00000351388.4_Missense_Mutation_p.D52Y|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.D52Y|GH1_ENST00000342364.4_Missense_Mutation_p.D52Y	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	52					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.D52Y(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TGGTAGGTGTCAAAGGCCAGC	0.572																																						uc002jdj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)GAC>TAC		growth hormone 1 isoform 1							163.0	174.0	170.0					17																	61995723		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995723C>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.154G>T	17.37:g.61995723C>A	ENSP00000312673:p.Asp52Tyr					GH1_uc002jdi.2_Missense_Mutation_p.D52Y|GH1_uc002jdk.2_Missense_Mutation_p.D52Y|GH1_uc002jdl.2_Missense_Mutation_p.D52Y|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.D52Y	p.D52Y	NM_000515	NP_000506	P01241	SOMA_HUMAN			2	216	-			52					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.154G>T	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	c	14.13	2.443380	0.43429	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;T;D;D	0.91407	-2.84;0.81;-2.84;-2.84	2.86	1.87	0.25490	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.333408	0.36101	N	0.002781	D	0.95076	0.8405	M	0.92649	3.33	0.37624	D	0.9214	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;P;D;D;D	0.83275	0.991;0.803;0.995;0.996;0.996	D	0.93677	0.6995	10	0.87932	D	0	.	5.7533	0.18158	0.0:0.8407:0.0:0.1593	.	52;52;52;52;52	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	Y	52	ENSP00000312673:D52Y;ENSP00000408486:D52Y;ENSP00000343791:D52Y;ENSP00000339278:D52Y	ENSP00000312673:D52Y	D	-	1	0	GH1	59349455	0.996000	0.38824	0.998000	0.56505	0.826000	0.46750	4.196000	0.58407	0.521000	0.28445	0.298000	0.19748	GAC		PASS	0.572	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		75	618	75	618	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62045698	62045698	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:62045698C>A	ENST00000435607.1	-	6	797	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W	SCN4A_ENST00000578147.1_Missense_Mutation_p.G241W	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	241					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G241W(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCAGGGCCCCCACGATCGTC	0.607																																						uc002jds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(721-723)GGG>TGG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						72.0	72.0	72.0					17																	62045698		2101	4267	6368	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045698C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.721G>T	17.37:g.62045698C>A	ENSP00000396320:p.Gly241Trp						p.G241W	NM_000334	NP_000325	P35499	SCN4A_HUMAN			6	798	-			241			I.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.721G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004084	0.74932	.	.	ENSG00000007314	ENST00000435607	D	0.98531	-4.98	5.08	5.08	0.68730	Ion transport (1);	0.105917	0.64402	D	0.000006	D	0.98902	0.9628	M	0.82132	2.575	0.48762	D	0.999701	D	0.89917	1.0	D	0.97110	1.0	D	0.99809	1.1040	10	0.87932	D	0	.	17.6345	0.88118	0.0:1.0:0.0:0.0	.	241	P35499	SCN4A_HUMAN	W	241	ENSP00000396320:G241W	ENSP00000396320:G241W	G	-	1	0	SCN4A	59399430	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.651000	0.83577	2.648000	0.89879	0.561000	0.74099	GGG		PASS	0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		48	78	48	78	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5428395	5428395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr18:5428395G>A	ENST00000341928.2	-	9	1322	c.982C>T	c.(982-984)Cga>Tga	p.R328*	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.R328*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R328*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R328*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.R328*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	328	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R328*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGTTTATTCGCAGCCGGTCG	0.418																																						uc002kmt.1																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	ovary(5)	5						c.(982-984)CGA>TGA		erythrocyte membrane protein band 4.1-like 3							143.0	146.0	145.0					18																	5428395		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428395G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.982C>T	18.37:g.5428395G>A	ENSP00000343158:p.Arg328*					EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R328*|EPB41L3_uc002kmu.1_Nonsense_Mutation_p.R328*|EPB41L3_uc010dkq.1_Nonsense_Mutation_p.R219*|EPB41L3_uc010dks.1_Nonsense_Mutation_p.R350*	p.R328*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			9	1068	-			328			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.982C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	40	8.478804	0.98829	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	5.31	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8071	0.63238	0.0:0.0:0.5071:0.4929	.	.	.	.	X	328;219;328;219;328;328	.	ENSP00000343158:R328X	R	-	1	2	EPB41L3	5418395	1.000000	0.71417	0.796000	0.32109	0.981000	0.71138	2.898000	0.48672	0.529000	0.28599	0.655000	0.94253	CGA		PASS	0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		156	260	156	260	---	---	---	---
MIB1	57534	broad.mit.edu	37	18	19345762	19345762	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr18:19345762A>T	ENST00000261537.6	+	2	523	c.259A>T	c.(259-261)Acc>Tcc	p.T87S	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	87					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T87S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CATGTGTGATACCTGCCGCCA	0.373																																						uc002ktq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(259-261)ACC>TCC		mindbomb homolog 1							130.0	118.0	122.0					18																	19345762		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19345762A>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.259A>T	18.37:g.19345762A>T	ENSP00000261537:p.Thr87Ser					MIB1_uc002ktp.2_5'UTR	p.T87S	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		2	259	+			87			ZZ-type.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.259A>T	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980587	0.53827	.	.	ENSG00000101752	ENST00000261537	D	0.86627	-2.15	5.79	5.79	0.91817	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	T	0.81059	0.4744	N	0.01668	-0.77	0.80722	D	1	P	0.44776	0.843	P	0.61722	0.893	T	0.79923	-0.1598	10	0.09843	T	0.71	-8.5777	16.1113	0.81266	1.0:0.0:0.0:0.0	.	87	Q86YT6	MIB1_HUMAN	S	87	ENSP00000261537:T87S	ENSP00000261537:T87S	T	+	1	0	MIB1	17599760	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.008000	0.93601	2.213000	0.71641	0.482000	0.46254	ACC		PASS	0.373	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		50	107	50	107	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21523757	21523757	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr18:21523757A>T	ENST00000313654.9	+	69	9273	c.9032A>T	c.(9031-9033)cAg>cTg	p.Q3011L	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2955L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q1346L|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1402L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3011	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.Q3011L(1)|p.Q1402L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AACAGGTCACAGTTTGCTGTG	0.502																																						uc002kuq.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(9031-9033)CAG>CTG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						134.0	119.0	124.0					18																	21523757		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21523757A>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9032A>T	18.37:g.21523757A>T	ENSP00000324532:p.Gln3011Leu					LAMA3_uc002kur.2_Missense_Mutation_p.Q2955L|LAMA3_uc002kus.3_Missense_Mutation_p.Q1402L|LAMA3_uc002kut.3_Missense_Mutation_p.Q1346L	p.Q3011L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			69	9118	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		3011			Laminin G-like 4.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.9032A>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	9.450	1.090383	0.20471	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.63417	-0.04;-0.04;-0.04	5.07	-0.992	0.10232	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.46983	0.1421	L	0.54323	1.7	0.33006	D	0.526832	B;B;B;P	0.36465	0.309;0.363;0.411;0.554	B;B;B;B	0.30646	0.058;0.079;0.118;0.081	T	0.48352	-0.9043	9	0.35671	T	0.21	.	5.0489	0.14497	0.6252:0.0:0.2531:0.1217	.	1346;1402;2955;3011	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	L	3011;2955;1402	ENSP00000324532:Q3011L;ENSP00000382432:Q2955L;ENSP00000269217:Q1402L	ENSP00000269217:Q1402L	Q	+	2	0	LAMA3	19777755	0.974000	0.33945	0.063000	0.19743	0.032000	0.12392	1.126000	0.31344	-0.314000	0.08716	-0.256000	0.11100	CAG		PASS	0.502	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		104	159	104	159	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30825250	30825250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr18:30825250C>A	ENST00000383096.3	-	15	1734	c.1552G>T	c.(1552-1554)Gaa>Taa	p.E518*	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.E518*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.E518*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.E518*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.E518*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.E518*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.E518*			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	518								p.E518*(2)									TCTTCCATTTCATCTGTCTTG	0.333																																						uc002kxn.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1552-1554)GAA>TAA		hypothetical protein LOC374864 isoform 1							263.0	201.0	222.0					18																	30825250		2203	4300	6503	SO:0001587	stop_gained	374864							g.chr18:30825250C>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1552G>T	18.37:g.30825250C>A	ENSP00000372576:p.Glu518*					C18orf34_uc010dme.1_Nonsense_Mutation_p.E32*|C18orf34_uc010xbr.1_Nonsense_Mutation_p.E518*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.E518*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.E518*	p.E518*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			14	1694	-			518					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Nonsense_Mutation	SNP	ENST00000383096.3	37	c.1552G>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	39	7.372080	0.98241	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-22.2994	13.7399	0.62840	0.0:1.0:0.0:0.0	.	.	.	.	X	518	.	ENSP00000300227:E518X	E	-	1	0	C18orf34	29079248	0.027000	0.19231	0.090000	0.20809	0.293000	0.27360	1.848000	0.39309	2.699000	0.92147	0.563000	0.77884	GAA		PASS	0.333	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		15	30	15	30	---	---	---	---
ONECUT2	9480	broad.mit.edu	37	18	55143669	55143669	+	Splice_Site	SNP	C	C	T	rs572113702		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr18:55143669C>T	ENST00000491143.2	+	2	1261	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	410					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A410V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCCCTTCAAGCGTGCAAACGC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21017	0.0		0.0	False		,,,				2504	0.001					uc002lgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1228-1230)GCG>GTG		one cut domain, family member 2							31.0	35.0	34.0					18																	55143669		2039	4206	6245	SO:0001630	splice_region_variant	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143669C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1229-1C>T	18.37:g.55143669C>T							p.A410V	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	2	1261	+		Colorectal(73;0.234)	410			CUT.			Missense_Mutation	SNP	ENST00000491143.2	37	c.1229C>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052034	0.75960	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	6.03	5.16	0.70880	Homeodomain-related (1);Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.068929	0.56097	N	0.000033	T	0.60314	0.2259	M	0.68317	2.08	0.80722	D	1	B	0.19583	0.037	B	0.14023	0.01	T	0.56811	-0.7917	8	.	.	.	.	14.9683	0.71213	0.0:0.9313:0.0:0.0687	.	410	O95948	ONEC2_HUMAN	V	391;410	.	.	A	+	2	0	ONECUT2	53294667	1.000000	0.71417	0.984000	0.44739	0.978000	0.69477	7.487000	0.81328	1.558000	0.49541	0.655000	0.94253	GCG		PASS	0.483	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3		Missense_Mutation	28	56	28	56	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56274624	56274624	+	Missense_Mutation	SNP	C	C	T	rs565612566		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr18:56274624C>T	ENST00000361673.3	-	3	370	c.157G>A	c.(157-159)Gat>Aat	p.D53N		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	53	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D53N(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCACTCCCATCGATGGCCTGA	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		20844	0.0		0.001	False		,,,				2504	0.0					uc002lhj.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(157-159)GAT>AAT		heart alpha-kinase							85.0	82.0	83.0					18																	56274624		1885	4117	6002	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274624C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.157G>A	18.37:g.56274624C>T	ENSP00000354991:p.Asp53Asn						p.D53N	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			3	371	-			53			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.157G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831385	0.32329	.	.	ENSG00000198796	ENST00000361673	T	0.64991	-0.13	5.9	2.8	0.32819	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58595	0.2133	L	0.53671	1.685	0.09310	N	1	D	0.61697	0.99	P	0.48524	0.58	T	0.47724	-0.9095	9	0.37606	T	0.19	-0.3293	5.7107	0.17933	0.0:0.6043:0.0:0.3957	.	53	Q86TB3	ALPK2_HUMAN	N	53	ENSP00000354991:D53N	ENSP00000354991:D53N	D	-	1	0	ALPK2	54425604	0.002000	0.14202	0.088000	0.20740	0.003000	0.03518	1.043000	0.30316	0.850000	0.35239	-0.191000	0.12829	GAT		PASS	0.373	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		30	65	30	65	---	---	---	---
POLR2E	5434	broad.mit.edu	37	19	1094003	1094003	+	Silent	SNP	A	A	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:1094003A>C	ENST00000215587.7	-	2	415	c.132T>G	c.(130-132)tcT>tcG	p.S44S	POLR2E_ENST00000586746.1_Silent_p.S44S|POLR2E_ENST00000585838.1_5'Flank			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	44			S -> F (in dbSNP:rs12459404). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2753903, ECO:0000269|PubMed:7828586, ECO:0000269|Ref.6}.		7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S44S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		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)		GCTTGTCCCCAGATTGGGCTT	0.617																																						uc002lre.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(130-132)TTT>TTG		DNA directed RNA polymerase II polypeptide E							43.0	38.0	40.0					19																	1094003		2203	4300	6503	SO:0001819	synonymous_variant	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1094003A>C		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.132T>G	19.37:g.1094003A>C						POLR2E_uc010xgf.1_Intron	p.F44L	NM_002695	NP_002686	P19388	RPAB1_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	209	-		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)	44					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	c.132T>G	CCDS12056.1																																																																																				PASS	0.617	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		8	77	8	77	---	---	---	---
PIAS4	51588	broad.mit.edu	37	19	4012993	4012993	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:4012993C>G	ENST00000262971.2	+	2	215	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	34	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186, ECO:0000305}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L34V(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGAGTGGACTGAAGCACGA	0.562																																						uc002lzg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(100-102)CTG>GTG		protein inhibitor of activated STAT, 4							106.0	100.0	102.0					19																	4012993		2203	4300	6503	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4012993C>G	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.100C>G	19.37:g.4012993C>G	ENSP00000262971:p.Leu34Val						p.L34V	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	110	+			34			SAP.		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.100C>G	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818570	0.71028	.	.	ENSG00000105229	ENST00000262971	T	0.31247	1.5	5.14	5.14	0.70334	DNA-binding SAP (3);	0.000000	0.64402	D	0.000001	T	0.24236	0.0587	N	0.22421	0.69	0.48975	D	0.999735	P	0.41546	0.754	B	0.42188	0.379	T	0.03750	-1.1007	10	0.72032	D	0.01	-17.0239	11.1247	0.48310	0.0:0.915:0.0:0.085	.	34	Q8N2W9	PIAS4_HUMAN	V	34	ENSP00000262971:L34V	ENSP00000262971:L34V	L	+	1	2	PIAS4	3963993	0.997000	0.39634	0.998000	0.56505	0.978000	0.69477	2.593000	0.46180	2.394000	0.81467	0.561000	0.74099	CTG		PASS	0.562	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		118	192	118	192	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063009	9063009	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:9063009G>T	ENST00000397910.4	-	3	24640	c.24437C>A	c.(24436-24438)cCc>cAc	p.P8146H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8148	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P8146H(4)|p.P3779H(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCACCAGTGGGCACTCCAGA	0.547																																						uc002mkp.2																			6	Substitution - Missense(6)		lung(6)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24436-24438)CCC>CAC		mucin 16							120.0	117.0	118.0					19																	9063009		2022	4190	6212	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063009G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24437C>A	19.37:g.9063009G>T	ENSP00000381008:p.Pro8146His						p.P8146H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24641	-			8148			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24437C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.115	0.206758	0.09704	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	3.31	1.1	0.20463	.	.	.	.	.	T	0.05868	0.0153	L	0.27053	0.805	.	.	.	D	0.59767	0.986	P	0.59012	0.85	T	0.33548	-0.9864	8	0.87932	D	0	.	3.9711	0.09454	0.1274:0.0:0.6393:0.2333	.	8146	B5ME49	.	H	8146	ENSP00000381008:P8146H	ENSP00000381008:P8146H	P	-	2	0	MUC16	8924009	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.635000	0.05471	0.396000	0.25283	0.508000	0.49915	CCC		PASS	0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	269	12	269	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10071107	10071107	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:10071107G>A	ENST00000264828.3	-	67	5303	c.5218C>T	c.(5218-5220)Ccc>Tcc	p.P1740S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1740	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.P1740S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AAGCAGACGGGGCCCAGTTCA	0.572																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(5218-5220)CCC>TCC		collagen, type V, alpha 3 preproprotein							59.0	61.0	60.0					19																	10071107		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071107G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5218C>T	19.37:g.10071107G>A	ENSP00000264828:p.Pro1740Ser						p.P1740S	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		67	5304	-			1740			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.5218C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053562	0.55218	.	.	ENSG00000080573	ENST00000264828	T	0.76578	-1.03	4.32	3.28	0.37604	Fibrillar collagen, C-terminal (4);	0.493765	0.17545	N	0.170387	T	0.73040	0.3536	M	0.65498	2.005	0.29044	N	0.8849	B	0.21225	0.053	B	0.20384	0.029	T	0.66110	-0.6005	10	0.38643	T	0.18	.	9.0768	0.36527	0.1121:0.0:0.8879:0.0	.	1740	P25940	CO5A3_HUMAN	S	1740	ENSP00000264828:P1740S	ENSP00000264828:P1740S	P	-	1	0	COL5A3	9932107	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	5.210000	0.65214	0.996000	0.38943	0.462000	0.41574	CCC		PASS	0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		38	101	38	101	---	---	---	---
RDH8	50700	broad.mit.edu	37	19	10131387	10131387	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:10131387G>T	ENST00000171214.1	+	4	694	c.445G>T	c.(445-447)Gtc>Ttc	p.V149F	RDH8_ENST00000591589.1_Missense_Mutation_p.V169F	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	149					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.V149F(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTCACAGGTGTCATCTTCAA	0.552																																						uc002mmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(445-447)GTC>TTC		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						77.0	65.0	69.0					19																	10131387		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10131387G>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.445G>T	19.37:g.10131387G>T	ENSP00000171214:p.Val149Phe						p.V149F	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		4	694	+			149			Helical; (Potential).		Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.445G>T		.	.	.	.	.	.	.	.	.	.	G	19.12	3.765303	0.69878	.	.	ENSG00000080511	ENST00000171214	D	0.87412	-2.25	5.23	4.13	0.48395	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.060780	0.64402	D	0.000004	D	0.85754	0.5770	N	0.17474	0.49	0.80722	D	1	D	0.53885	0.963	D	0.65573	0.936	T	0.82739	-0.0308	10	0.23302	T	0.38	.	12.976	0.58538	0.0:0.1639:0.8361:0.0	.	149	Q9NYR8	RDH8_HUMAN	F	149	ENSP00000171214:V149F	ENSP00000171214:V149F	V	+	1	0	RDH8	9992387	0.981000	0.34729	0.955000	0.39395	0.491000	0.33493	1.802000	0.38853	2.440000	0.82611	0.655000	0.94253	GTC		PASS	0.552	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				10	14	10	14	---	---	---	---
OR10H3	26532	broad.mit.edu	37	19	15852965	15852965	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:15852965A>T	ENST00000305892.1	+	1	763	c.763A>T	c.(763-765)Agt>Tgt	p.S255C		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S255C(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGCACTATAGTTTTGCCTC	0.512																																						uc010xoq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)AGT>TGT		olfactory receptor, family 10, subfamily H,							184.0	155.0	165.0					19																	15852965		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852965A>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.763A>T	19.37:g.15852965A>T	ENSP00000307130:p.Ser255Cys						p.S255C	NM_013938	NP_039226	O60404	O10H3_HUMAN			1	763	+			255			Helical; Name=6; (Potential).		Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.763A>T	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	9.925	1.213162	0.22289	.	.	ENSG00000171936	ENST00000305892	T	0.37235	1.21	2.37	-2.28	0.06826	GPCR, rhodopsin-like superfamily (1);	0.171339	0.27424	U	0.019422	T	0.33469	0.0864	N	0.20483	0.58	0.23070	N	0.99834	D	0.67145	0.996	D	0.64687	0.928	T	0.26815	-1.0092	10	0.87932	D	0	.	6.637	0.22889	0.6366:0.0:0.3634:0.0	.	255	O60404	O10H3_HUMAN	C	255	ENSP00000307130:S255C	ENSP00000307130:S255C	S	+	1	0	OR10H3	15713965	0.000000	0.05858	0.145000	0.22337	0.091000	0.18340	-0.349000	0.07731	-0.520000	0.06435	0.172000	0.16884	AGT		PASS	0.512	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			7	401	7	401	---	---	---	---
OR10H1	26539	broad.mit.edu	37	19	15918197	15918197	+	Silent	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:15918197G>T	ENST00000334920.2	-	1	739	c.651C>A	c.(649-651)ctC>ctA	p.L217L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L217L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGCATAGGAGAGGAGGATGA	0.577																																						uc002nbq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(649-651)CTC>CTA		olfactory receptor, family 10, subfamily H,							90.0	74.0	80.0					19																	15918197		2202	4279	6481	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918197G>T	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.651C>A	19.37:g.15918197G>T							p.L217L	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	740	-			217			Helical; Name=5; (Potential).		Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.651C>A	CCDS12335.1																																																																																				PASS	0.577	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			88	135	88	135	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17169361	17169361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:17169361G>A	ENST00000253669.5	-	8	833	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	HAUS8_ENST00000593360.1_Nonsense_Mutation_p.Q154*|HAUS8_ENST00000448593.2_Nonsense_Mutation_p.Q214*			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	215					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.Q215*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CAACTGACCTGGGCATCCAGG	0.532																																						uc002nfe.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(643-645)CAG>TAG		sarcoma antigen NY-SAR-48 isoform a							58.0	53.0	55.0					19																	17169361		2203	4300	6503	SO:0001587	stop_gained	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17169361G>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.643C>T	19.37:g.17169361G>A	ENSP00000253669:p.Gln215*					HAUS8_uc002nff.2_Nonsense_Mutation_p.Q214*|HAUS8_uc002nfg.1_Nonsense_Mutation_p.Q154*|HAUS8_uc002nfh.1_Nonsense_Mutation_p.Q215*	p.Q215*	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN			8	754	-			215					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Nonsense_Mutation	SNP	ENST00000253669.5	37	c.643C>T	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787766	0.70337	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	.	.	.	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-37.4584	13.1515	0.59492	0.0:0.0:1.0:0.0	.	.	.	.	X	215;214	.	ENSP00000253669:Q215X	Q	-	1	0	HAUS8	17030361	1.000000	0.71417	0.732000	0.30844	0.140000	0.21249	5.251000	0.65438	2.234000	0.73211	0.561000	0.74099	CAG		PASS	0.532	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		41	94	41	94	---	---	---	---
FAM129C	199786	broad.mit.edu	37	19	17648193	17648193	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:17648193A>T	ENST00000335393.4	+	6	667	c.529A>T	c.(529-531)Act>Tct	p.T177S	FAM129C_ENST00000352727.3_Missense_Mutation_p.T177S|FAM129C_ENST00000599164.1_Missense_Mutation_p.T146S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000595684.1_Missense_Mutation_p.T177S|FAM129C_ENST00000332386.5_Missense_Mutation_p.T177S|FAM129C_ENST00000601861.1_Missense_Mutation_p.T146S|FAM129C_ENST00000300971.2_Missense_Mutation_p.T177S|FAM129C_ENST00000600871.1_Missense_Mutation_p.T123S|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599124.1_Missense_Mutation_p.T146S	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	177								p.T177S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						AGGAGACCATACTCAGGAAGA	0.552																																						uc010xpr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(529-531)ACT>TCT		B-cell novel protein 1 isoform a							160.0	150.0	153.0					19																	17648193		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17648193A>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.529A>T	19.37:g.17648193A>T	ENSP00000335040:p.Thr177Ser					FAM129C_uc010xpq.1_Missense_Mutation_p.T177S|FAM129C_uc010xps.1_Missense_Mutation_p.T146S|FAM129C_uc010xpt.1_RNA|FAM129C_uc002ngy.3_5'Flank|FAM129C_uc010xpu.1_5'Flank|FAM129C_uc002ngz.3_5'Flank|FAM129C_uc010eaw.2_5'Flank|FAM129C_uc002nhb.2_5'Flank	p.T177S	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			6	667	+			177					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.529A>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	a	8.464	0.855883	0.17106	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	4.42	-6.72	0.01755	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	1.662150	0.03719	N	0.251576	T	0.11410	0.0278	L	0.50919	1.6	0.09310	N	0.999999	B;B	0.33807	0.426;0.4	B;B	0.33960	0.124;0.173	T	0.28618	-1.0038	10	0.12766	T	0.61	0.2546	2.3015	0.04163	0.1996:0.1279:0.4967:0.1758	.	177;177	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	S	177;177;177;177;123	ENSP00000335040:T177S;ENSP00000333447:T177S;ENSP00000341067:T177S;ENSP00000300971:T177S	ENSP00000300971:T177S	T	+	1	0	FAM129C	17509193	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-0.090000	0.11163	-0.827000	0.04278	0.392000	0.25879	ACT		PASS	0.552	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		151	287	151	287	---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18888149	18888149	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:18888149C>T	ENST00000321949.8	+	14	1888	c.1862C>T	c.(1861-1863)gCc>gTc	p.A621V	CRTC1_ENST00000601916.1_Missense_Mutation_p.A379V|CRTC1_ENST00000338797.6_Missense_Mutation_p.A637V|CRTC1_ENST00000594658.1_Missense_Mutation_p.A580V	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.A621V(1)|p.A637V(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ATGGTTCTGGCCGACCCAGCC	0.687																																						uc002nkb.3																		CRTC1/MAML2(516)	2	Substitution - Missense(2)		lung(2)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						c.(1861-1863)GCC>GTC		mucoepidermoid carcinoma translocated 1 isoform							170.0	181.0	177.0					19																	18888149		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18888149C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1862C>T	19.37:g.18888149C>T	ENSP00000323332:p.Ala621Val					CRTC1_uc010ebv.2_Missense_Mutation_p.A637V|CRTC1_uc010ebw.2_Missense_Mutation_p.A457V|CRTC1_uc002nkc.3_Missense_Mutation_p.A319V	p.A621V	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN			14	1950	+			621						Missense_Mutation	SNP	ENST00000321949.8	37	c.1862C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136564	0.77662	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.13420	2.59;2.59	3.67	3.67	0.42095	Transducer of regulated CREB activity, C-terminal (1);	0.352416	0.29417	N	0.012203	T	0.17831	0.0428	L	0.42245	1.32	0.43156	D	0.994931	P;P	0.44521	0.837;0.494	P;B	0.47430	0.547;0.41	T	0.03630	-1.1018	9	.	.	.	-6.7309	14.5495	0.68057	0.0:1.0:0.0:0.0	.	637;621	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	V	637;621	ENSP00000345001:A637V;ENSP00000323332:A621V	.	A	+	2	0	CRTC1	18749149	1.000000	0.71417	0.995000	0.50966	0.903000	0.53119	7.323000	0.79105	1.898000	0.54952	0.467000	0.42956	GCC		PASS	0.687	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		6	706	6	706	---	---	---	---
PRODH2	58510	broad.mit.edu	37	19	36303539	36303539	+	Missense_Mutation	SNP	G	G	T	rs150476704		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:36303539G>T	ENST00000301175.3	-	2	414	c.397C>A	c.(397-399)Ctg>Atg	p.L133M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	133					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.L133M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCACCAACAGCCCGTGAGTG	0.657																																						uc002obx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(397-399)CTG>ATG		kidney and liver proline oxidase 1							31.0	31.0	31.0					19																	36303539		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303539G>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.397C>A	19.37:g.36303539G>T	ENSP00000301175:p.Leu133Met						p.L133M	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	415	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		133						Missense_Mutation	SNP	ENST00000301175.3	37	c.397C>A	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470506	0.26423	.	.	ENSG00000250799	ENST00000301175	T	0.78816	-1.21	5.72	3.27	0.37495	.	.	.	.	.	T	0.71160	0.3307	N	0.11064	0.09	0.32190	N	0.579219	D	0.71674	0.998	D	0.64042	0.921	T	0.71199	-0.4663	9	0.44086	T	0.13	.	5.8771	0.18834	0.1803:0.0:0.6617:0.158	.	133	Q9UF12	PROD2_HUMAN	M	133	ENSP00000301175:L133M	ENSP00000301175:L133M	L	-	1	2	PRODH2	40995379	0.243000	0.23878	0.999000	0.59377	0.088000	0.18126	0.678000	0.25277	1.425000	0.47237	-0.216000	0.12614	CTG		PASS	0.657	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		18	119	18	119	---	---	---	---
ZNF382	84911	broad.mit.edu	37	19	37118098	37118098	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:37118098G>T	ENST00000292928.2	+	5	1412	c.1299G>T	c.(1297-1299)gaG>gaT	p.E433D	CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.E432D|ZNF382_ENST00000423582.1_Missense_Mutation_p.E384D|ZNF382_ENST00000439428.1_Missense_Mutation_p.E432D	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	433	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E433D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACACAGGAGAGAAACCCTATA	0.448																																						uc002oek.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)GAG>GAT		zinc finger protein 382							65.0	66.0	66.0					19																	37118098		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118098G>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1299G>T	19.37:g.37118098G>T	ENSP00000292928:p.Glu433Asp					ZNF382_uc010efa.2_Missense_Mutation_p.E384D|ZNF382_uc010efb.2_Missense_Mutation_p.E432D|ZNF382_uc002oel.2_Missense_Mutation_p.E432D	p.E433D	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1412	+	Esophageal squamous(110;0.198)		433			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1299G>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624546	0.66901	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.27	4.27	0.50696	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000520	T	0.22044	0.0531	L	0.35487	1.065	0.32053	N	0.596674	B;B;B	0.31625	0.284;0.284;0.332	B;B;B	0.38106	0.173;0.173;0.265	T	0.23297	-1.0192	10	0.72032	D	0.01	.	8.2048	0.31446	0.1086:0.0:0.8914:0.0	.	432;432;433	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	D	384;433;432;432	ENSP00000389722:E384D;ENSP00000292928:E433D;ENSP00000407593:E432D;ENSP00000410113:E432D	ENSP00000292928:E433D	E	+	3	2	ZNF382	41809938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.977000	0.29475	2.375000	0.81037	0.591000	0.81541	GAG		PASS	0.448	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		42	255	42	255	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330739	39330739	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:39330739C>T	ENST00000221419.5	-	8	1596	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	HNRNPL_ENST00000600873.1_Silent_p.E277E|AC104534.3_ENST00000594769.1_Missense_Mutation_p.R27K	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	410	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.E410E(1)|p.E277E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGCTCACCTTCTCCACATTGC	0.577																																						uc010xul.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1228-1230)GAG>GAA		heterogeneous nuclear ribonucleoprotein L							47.0	52.0	50.0					19																	39330739		2187	4274	6461	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330739C>T	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1230G>A	19.37:g.39330739C>T						HNRNPL_uc010ege.1_Silent_p.E66E|HNRNPL_uc002ojj.1_Silent_p.E66E|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.E66E|HNRNPL_uc002ojl.2_Silent_p.E66E|HNRNPL_uc010xum.1_Silent_p.E277E|HNRNPL_uc002ojp.1_Silent_p.E66E|HNRNPL_uc010xun.1_3'UTR	p.E410E	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1241	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		410			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.1230G>A	CCDS33015.1																																																																																				PASS	0.577	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			11	318	11	318	---	---	---	---
CYP2S1	29785	broad.mit.edu	37	19	41703718	41703718	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:41703718G>A	ENST00000310054.4	+	3	594	c.378G>A	c.(376-378)caG>caA	p.Q126Q	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	126					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.Q126Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGTGGAGGCAGCTGAGGAAGT	0.607																																						uc002opw.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(376-378)CAG>CAA		cytochrome P450, family 2, subfamily S,							82.0	80.0	81.0					19																	41703718		2203	4300	6503	SO:0001819	synonymous_variant	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41703718G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.378G>A	19.37:g.41703718G>A						CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron	p.Q126Q	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN			3	433	+			126					Q9BZ66	Silent	SNP	ENST00000310054.4	37	c.378G>A	CCDS12573.1																																																																																				PASS	0.607	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			11	337	11	337	---	---	---	---
CD177	57126	broad.mit.edu	37	19	43864424	43864424	+	RNA	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:43864424G>T	ENST00000607109.1	-	0	918				CD177_ENST00000607517.1_RNA|CD177_ENST00000378009.4_RNA														p.*249L(1)									CAGATTTTCTGACCTGTCATC	0.552																																						uc002owi.2																			1	Nonstop extension(1)		lung(1)	central_nervous_system(1)	1						c.(625-627)CTG>CTT		CD177 molecule precursor							55.0	59.0	58.0					19																	43864424		1960	4138	6098			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43864424G>T																													19.37:g.43864424G>T						CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	p.L209L	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			6	669	+		Prostate(69;0.00682)	209			UPAR/Ly6 1.			Silent	SNP	ENST00000607109.1	37	c.627G>T		.	.	.	.	.	.	.	.	.	.	N	0.386	-0.926068	0.02377	.	.	ENSG00000204936	ENST00000378009	.	.	.	3.18	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4494	0.32862	0.0:0.2401:0.7599:0.0	.	.	.	.	L	249	.	.	X	+	2	2	CD177	48556264	0.019000	0.18553	0.013000	0.15412	0.002000	0.02628	2.870000	0.48451	0.926000	0.37118	-0.477000	0.04895	TGA		PASS	0.552	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			18	70	18	70	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46320221	46320221	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:46320221G>A	ENST00000245934.7	-	24	3337	c.3093C>T	c.(3091-3093)taC>taT	p.Y1031Y	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1031					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.Y1031Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACACCTTGGGGTACTTCCACA	0.632											OREG0025562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pdn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3091-3093)TAC>TAT		symplekin							24.0	22.0	23.0					19																	46320221		2191	4276	6467	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46320221G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3093C>T	19.37:g.46320221G>A			OREG0025562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	RSPH6A_uc002pdm.2_5'Flank	p.Y1031Y	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	24	3338	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	1031					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.3093C>T	CCDS12676.2																																																																																				PASS	0.632	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	12	6	12	---	---	---	---
SIGLEC11	114132	broad.mit.edu	37	19	50461997	50461997	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:50461997C>G	ENST00000447370.2	-	7	1356	c.1266G>C	c.(1264-1266)gaG>gaC	p.E422D	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.E422D	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	422	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E410D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGGGTGGCAGCTCCAGGACCC	0.667																																						uc010ybh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1264-1266)GAG>GAC		sialic acid binding Ig-like lectin 11 isoform 1							59.0	59.0	59.0					19																	50461997		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461997C>G	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1266G>C	19.37:g.50461997C>G	ENSP00000412361:p.Glu422Asp					SIGLEC11_uc010ybi.1_Missense_Mutation_p.E422D	p.E422D	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1357	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	422			Ig-like C2-type 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000447370.2	37	c.1266G>C	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.425351|3.425351	0.62733|0.62733	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.21543|.	2.0|.	3.1|3.1	-2.83|-2.83	0.05769|0.05769	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);|.	0.405610|.	0.21602|.	N|.	0.071927|.	T|T	0.45256|0.45256	0.1333|0.1333	M|M	0.78223|0.78223	2.4|2.4	0.20403|0.20403	N|N	0.99991|0.99991	P;P|.	0.52170|.	0.951;0.549|.	P;P|.	0.55112|.	0.769;0.531|.	T|T	0.49113|0.49113	-0.8973|-0.8973	10|5	0.44086|.	T|.	0.13|.	.|.	4.0635|4.0635	0.09849|0.09849	0.0:0.3705:0.3902:0.2393|0.0:0.3705:0.3902:0.2393	.|.	422;422|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	D|T	422|412	ENSP00000412361:E422D|.	ENSP00000412361:E422D|.	E|S	-|-	3|2	2|0	SIGLEC11|SIGLEC11	55153809|55153809	0.001000|0.001000	0.12720|0.12720	0.013000|0.013000	0.15412|0.15412	0.324000|0.324000	0.28378|0.28378	-1.292000|-1.292000	0.02772|0.02772	-0.172000|-0.172000	0.10779|0.10779	0.556000|0.556000	0.70494|0.70494	GAG|AGC		PASS	0.667	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		118	70	118	70	---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57293332	57293332	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:57293332A>T	ENST00000391708.3	-	10	1177	c.635T>A	c.(634-636)cTg>cAg	p.L212Q	AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.L212Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.L212Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.L212Q|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.L212Q|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	212	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L212Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CAGGGAGACCAGGTTCCGGTA	0.517																																						uc002qnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(634-636)CTG>CAG		zinc finger, imprinted 2							117.0	113.0	114.0					19																	57293332		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57293332A>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.635T>A	19.37:g.57293332A>T	ENSP00000375589:p.Leu212Gln					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.L8Q|ZIM2_uc010ygr.1_Missense_Mutation_p.L8Q|ZIM2_uc002qnq.2_Missense_Mutation_p.L212Q|ZIM2_uc010etp.2_Missense_Mutation_p.L212Q|ZIM2_uc010ygs.1_Missense_Mutation_p.L212Q	p.L212Q	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	9	1017	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	212			KRAB.		Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.635T>A	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308513	0.60305	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.03920	3.76;3.76	5.21	5.21	0.72293	Krueppel-associated box (4);	.	.	.	.	T	0.32315	0.0825	H	0.97131	3.945	.	.	.	D	0.89917	1.0	D	0.97110	1.0	T	0.58509	-0.7624	8	0.87932	D	0	.	11.6799	0.51451	1.0:0.0:0.0:0.0	.	212	Q9NZV7	ZIM2_HUMAN	Q	212	ENSP00000375589:L212Q;ENSP00000221722:L212Q	ENSP00000221722:L212Q	L	-	2	0	ZIM2	61985144	1.000000	0.71417	0.997000	0.53966	0.638000	0.38207	4.892000	0.63193	2.326000	0.78906	0.533000	0.62120	CTG		PASS	0.517	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			95	81	95	81	---	---	---	---
CHMP2A	27243	broad.mit.edu	37	19	59063771	59063771	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr19:59063771C>T	ENST00000600118.1	-	2	628	c.203G>A	c.(202-204)cGc>cAc	p.R68H	CHMP2A_ENST00000312547.2_Missense_Mutation_p.R68H|CHMP2A_ENST00000601220.1_Missense_Mutation_p.R68H			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	68	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)	p.R68H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GCGCCGGGTGCGCACCAAGTC	0.507																																						uc002qti.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)CGC>CAC		chromatin modifying protein 2A							105.0	97.0	100.0					19																	59063771		2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063771C>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.203G>A	19.37:g.59063771C>T	ENSP00000469240:p.Arg68His					CHMP2A_uc002qtj.2_Missense_Mutation_p.R68H|CHMP2A_uc002qtk.2_Missense_Mutation_p.R68H	p.R68H	NM_198426	NP_940818	O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	2	629	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	68			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.203G>A	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482697	0.63962	.	.	ENSG00000130724	ENST00000312547	T	0.73789	-0.78	5.21	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90312	0.4338	10	0.62326	D	0.03	.	11.877	0.52552	0.0:0.9143:0.0:0.0857	.	68	O43633	CHM2A_HUMAN	H	68	ENSP00000310440:R68H	ENSP00000310440:R68H	R	-	2	0	CHMP2A	63755583	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	7.020000	0.76419	1.353000	0.45828	-0.136000	0.14681	CGC		PASS	0.507	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		7	203	7	203	---	---	---	---
ANGPT4	51378	broad.mit.edu	37	20	865720	865720	+	Splice_Site	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr20:865720C>A	ENST00000381922.3	-	4	938		c.e4+1		ANGPT4_ENST00000546022.1_Splice_Site	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.?(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CGCTCACTCACCCGGGGCCGA	0.667																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e4+1		angiopoietin 4 precursor							19.0	22.0	21.0					20																	865720		2199	4297	6496	SO:0001630	splice_region_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:865720C>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.835+1G>T	20.37:g.865720C>A						ANGPT4_uc010zpn.1_Splice_Site_p.A273_splice	p.A279_splice	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			4	938	-								B4E3J9|Q5TFF4|Q9H4Z4	Splice_Site	SNP	ENST00000381922.3	37	c.835_splice	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648729	0.29336	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.211	0.65764	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANGPT4	813720	1.000000	0.71417	0.987000	0.45799	0.094000	0.18550	2.296000	0.43584	2.460000	0.83146	0.462000	0.41574	.		PASS	0.667	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	Intron	41	59	41	59	---	---	---	---
HSPA12B	116835	broad.mit.edu	37	20	3730636	3730636	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr20:3730636G>C	ENST00000254963.2	+	11	1208	c.1063G>C	c.(1063-1065)Ggc>Cgc	p.G355R	HSPA12B_ENST00000542646.1_Missense_Mutation_p.G189R	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	355							ATP binding (GO:0005524)	p.G355R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TGGCGCGGTGGGCGTGGACCT	0.716																																						uc002wjd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1063-1065)GGC>CGC		heat shock 70kD protein 12B							7.0	8.0	8.0					20																	3730636		2175	4270	6445	SO:0001583	missense	116835						ATP binding	g.chr20:3730636G>C	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1063G>C	20.37:g.3730636G>C	ENSP00000254963:p.Gly355Arg					HSPA12B_uc010zqi.1_Missense_Mutation_p.G354R|HSPA12B_uc002wje.2_Missense_Mutation_p.G268R|HSPA12B_uc010zqj.1_Missense_Mutation_p.G189R	p.G355R	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN			11	1166	+			355					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.1063G>C	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447836	0.84101	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.09073	3.02;3.02;3.02	5.18	5.18	0.71444	.	0.159477	0.53938	D	0.000041	T	0.18341	0.0440	L	0.33753	1.03	0.80722	D	1	P;D	0.71674	0.575;0.998	B;D	0.74674	0.288;0.984	T	0.03240	-1.1057	10	0.25106	T	0.35	.	16.57	0.84609	0.0:0.0:1.0:0.0	.	354;355	B7ZLP2;Q96MM6	.;HS12B_HUMAN	R	355;189;269	ENSP00000254963:G355R;ENSP00000441506:G189R;ENSP00000382608:G269R	ENSP00000254963:G355R	G	+	1	0	HSPA12B	3678636	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.466000	0.97665	2.597000	0.87782	0.551000	0.68910	GGC		PASS	0.716	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		8	18	8	18	---	---	---	---
BPIFA1	51297	broad.mit.edu	37	20	31827670	31827670	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr20:31827670C>A	ENST00000354297.4	+	4	453	c.382C>A	c.(382-384)Cgt>Agt	p.R128S	BPIFA1_ENST00000375413.4_Missense_Mutation_p.R128S|BPIFA1_ENST00000375422.2_Missense_Mutation_p.R128S	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	128					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.R128S(1)									TGATGGCCACCGTCTCTATGT	0.562																																						uc002wyv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)CGT>AGT		palate, lung and nasal epithelium associated							166.0	153.0	157.0					20																	31827670		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31827670C>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.382C>A	20.37:g.31827670C>A	ENSP00000346251:p.Arg128Ser					PLUNC_uc002wyt.3_Missense_Mutation_p.R128S|PLUNC_uc002wyu.3_Missense_Mutation_p.R128S	p.R128S	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			4	452	+			128					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.382C>A	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422994	0.83559	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.05649	3.41;3.41;3.41	5.44	5.44	0.79542	.	0.095490	0.47093	D	0.000247	T	0.19886	0.0478	M	0.72118	2.19	0.34276	D	0.681597	D	0.63880	0.993	D	0.64144	0.922	T	0.09185	-1.0686	10	0.19147	T	0.46	-4.5861	14.6416	0.68729	0.0:1.0:0.0:0.0	.	128	Q9NP55	BPIA1_HUMAN	S	128;128;128;114	ENSP00000364571:R128S;ENSP00000346251:R128S;ENSP00000364562:R128S	ENSP00000346251:R128S	R	+	1	0	BPIFA1	31291331	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	3.291000	0.51764	2.837000	0.97791	0.655000	0.94253	CGT		PASS	0.562	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		6	717	6	717	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33586326	33586326	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr20:33586326G>A	ENST00000262873.7	+	32	4105	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1296						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1338H(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGCTGAGTCGCCTGCTAGAG	0.642																																						uc002xbi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(4012-4014)CGC>CAC		myosin, heavy polypeptide 7B, cardiac muscle,							40.0	46.0	44.0					20																	33586326		2100	4219	6319	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586326G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4013G>A	20.37:g.33586326G>A	ENSP00000262873:p.Arg1338His						p.R1338H	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		32	4105	+			1296			Potential.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.4013G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347741	0.82022	.	.	ENSG00000078814	ENST00000262873	T	0.81163	-1.46	4.73	4.73	0.59995	Myosin tail (1);	0.000000	0.38436	N	0.001681	D	0.88883	0.6558	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.89715	0.3915	10	0.59425	D	0.04	.	17.9019	0.88906	0.0:0.0:1.0:0.0	.	1296	A7E2Y1	MYH7B_HUMAN	H	1338	ENSP00000262873:R1338H	ENSP00000262873:R1338H	R	+	2	0	MYH7B	33049987	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.587000	0.98229	2.467000	0.83353	0.655000	0.94253	CGC		PASS	0.642	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		7	174	7	174	---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42252561	42252561	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr20:42252561G>A	ENST00000373030.3	+	10	929	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	IFT52_ENST00000373039.4_Missense_Mutation_p.A267T	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	267					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.A267T(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCCTACACAGCCACCCTATC	0.493																																						uc002xkw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(799-801)GCC>ACC		intraflagellar transport 52 homolog							152.0	133.0	140.0					20																	42252561		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42252561G>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.799G>A	20.37:g.42252561G>A	ENSP00000362121:p.Ala267Thr					IFT52_uc002xky.2_Missense_Mutation_p.A267T|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.A243T|IFT52_uc002xkz.2_Missense_Mutation_p.A267T	p.A267T	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		10	921	+		Myeloproliferative disorder(115;0.00452)	267					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.799G>A	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608548	0.46527	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.58	5.58	0.84498	.	0.355089	0.34460	N	0.003959	T	0.45054	0.1323	L	0.33293	1	0.40694	D	0.982421	B	0.16166	0.016	B	0.15870	0.014	T	0.32214	-0.9915	9	0.24483	T	0.36	-15.9586	12.1325	0.53950	0.0798:0.0:0.9202:0.0	.	267	Q9Y366	IFT52_HUMAN	T	267	.	ENSP00000362121:A267T	A	+	1	0	IFT52	41685975	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	5.293000	0.65680	2.813000	0.96785	0.655000	0.94253	GCC		PASS	0.493	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		125	180	125	180	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47297836	47297836	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr20:47297836T>G	ENST00000371941.3	-	11	1394	c.1372A>C	c.(1372-1374)Agc>Cgc	p.S458R	PREX1_ENST00000396220.1_Missense_Mutation_p.S458R	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	458	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S458R(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCCGTCTTGCTGATTTCACCA	0.542																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(1372-1374)AGC>CGC		phosphatidylinositol-3,4,							232.0	207.0	215.0					20																	47297836		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47297836T>G	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1372A>C	20.37:g.47297836T>G	ENSP00000361009:p.Ser458Arg						p.S458R	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		11	1395	-			458			DEP 1.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1372A>C	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	t	14.52	2.559227	0.45590	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.21932	1.98;1.98	4.41	4.41	0.53225	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.084915	0.48767	N	0.000169	T	0.19087	0.0458	L	0.37507	1.11	0.48975	D	0.999734	B	0.12630	0.006	B	0.18263	0.021	T	0.03335	-1.1047	10	0.56958	D	0.05	.	13.7239	0.62745	0.0:0.0:0.0:1.0	.	458	Q8TCU6	PREX1_HUMAN	R	458	ENSP00000361009:S458R;ENSP00000379522:S458R	ENSP00000361009:S458R	S	-	1	0	PREX1	46731243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.969000	0.56816	1.636000	0.50526	0.468000	0.43344	AGC		PASS	0.542	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		225	485	225	485	---	---	---	---
LSM14B	149986	broad.mit.edu	37	20	60699680	60699680	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr20:60699680C>T	ENST00000279068.6	+	2	295	c.135C>T	c.(133-135)tcC>tcT	p.S45S	LSM14B_ENST00000253001.4_Silent_p.S45S|LSM14B_ENST00000370915.1_Silent_p.S45S	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	45					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.S45S(2)		endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AAGTGAGGTCCTTTGGCACTG	0.502											OREG0026104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010gjy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(133-135)TCC>TCT		LSM14 homolog B							77.0	80.0	79.0					20																	60699680		1991	4175	6166	SO:0001819	synonymous_variant	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60699680C>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.135C>T	20.37:g.60699680C>T			OREG0026104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1048	LSM14B_uc002ybt.2_Silent_p.S45S|LSM14B_uc010gjx.1_Silent_p.S45S|LSM14B_uc002ybv.2_Silent_p.S45S|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	p.S45S	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		2	341	+	Breast(26;3.97e-09)		45					Q6PFW8|Q96LH8	Silent	SNP	ENST00000279068.6	37	c.135C>T	CCDS46626.1																																																																																				PASS	0.502	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		9	155	9	155	---	---	---	---
OGFR	11054	broad.mit.edu	37	20	61444505	61444505	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr20:61444505G>A	ENST00000290291.6	+	7	1563	c.1538G>A	c.(1537-1539)gGt>gAt	p.G513D	OGFR_ENST00000370461.1_Missense_Mutation_p.G461D	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	513					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)	p.G513D(1)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CCCAAAGAAGGTACCCCTGGG	0.701																																						uc002ydj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1537-1539)GGT>GAT		opioid growth factor receptor							17.0	22.0	20.0					20																	61444505		2167	4264	6431	SO:0001583	missense	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444505G>A	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1538G>A	20.37:g.61444505G>A	ENSP00000290291:p.Gly513Asp					OGFR_uc002ydk.2_Missense_Mutation_p.G496D|OGFR_uc002ydl.2_Missense_Mutation_p.G461D|uc011aam.1_Silent_p.Y46Y	p.G513D	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN			7	1573	+	Breast(26;3.65e-08)		513					O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	c.1538G>A	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941593	0.53079	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.39787	1.59;1.06	3.6	-2.57	0.06248	.	2.254170	0.02905	N	0.135865	T	0.25082	0.0609	N	0.19112	0.55	0.09310	N	1	B;B;B	0.28636	0.218;0.115;0.115	B;B;B	0.28638	0.092;0.068;0.068	T	0.10660	-1.0620	10	0.11794	T	0.64	-0.0777	6.7442	0.23453	0.1778:0.4138:0.4084:0.0	.	513;496;513	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	D	513;513;368;461	ENSP00000290291:G513D;ENSP00000359491:G461D	ENSP00000290291:G513D	G	+	2	0	OGFR	60914950	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.082000	0.11304	-0.360000	0.08138	-0.305000	0.09177	GGT		PASS	0.701	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			4	18	4	18	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32624423	32624423	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr21:32624423C>A	ENST00000286827.3	-	6	1517	c.1046G>T	c.(1045-1047)cGa>cTa	p.R349L	TIAM1_ENST00000541036.1_Missense_Mutation_p.R349L|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	349					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R349L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCATTAGATCGCCTGGACAG	0.617																																						uc002yow.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(1045-1047)CGA>CTA		T-cell lymphoma invasion and metastasis 1							168.0	177.0	174.0					21																	32624423		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32624423C>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1046G>T	21.37:g.32624423C>A	ENSP00000286827:p.Arg349Leu					TIAM1_uc011adk.1_Missense_Mutation_p.R349L|TIAM1_uc011adl.1_Missense_Mutation_p.R349L|TIAM1_uc002yox.1_5'UTR	p.R349L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			6	1518	-			349					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1046G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370430	0.82573	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.44083	0.96;0.93	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.44542	1.39	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.995	T	0.50224	-0.8853	10	0.27082	T	0.32	.	17.9186	0.88959	0.0:1.0:0.0:0.0	.	349;349;349	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	349;190;349	ENSP00000286827:R349L;ENSP00000441570:R349L	ENSP00000286827:R349L	R	-	2	0	TIAM1	31546294	1.000000	0.71417	0.976000	0.42696	0.938000	0.57974	4.375000	0.59549	2.442000	0.82660	0.655000	0.94253	CGA		PASS	0.617	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		28	455	28	455	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43236175	43236175	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr21:43236175C>T	ENST00000269844.3	-	26	3486	c.3376G>A	c.(3376-3378)Gcg>Acg	p.A1126T	PRDM15_ENST00000398548.1_Missense_Mutation_p.A797T|PRDM15_ENST00000447207.2_Missense_Mutation_p.A760T|PRDM15_ENST00000538201.1_Missense_Mutation_p.A780T|PRDM15_ENST00000422911.1_Missense_Mutation_p.A817T	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1126					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.A1126T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGGCGCAGCGCGTGCTTGGTC	0.637																																						uc002yzq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3376-3378)GCG>ACG		PR domain containing 15 isoform 1							149.0	105.0	120.0					21																	43236175		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43236175C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3376G>A	21.37:g.43236175C>T	ENSP00000269844:p.Ala1126Thr					PRDM15_uc002yzo.2_Missense_Mutation_p.A797T|PRDM15_uc002yzp.2_Missense_Mutation_p.A817T|PRDM15_uc002yzr.1_Missense_Mutation_p.A817T	p.A1126T	NM_022115	NP_071398	P57071	PRD15_HUMAN			26	3487	-			1126			C2H2-type 12.		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.3376G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	28.4	4.913602	0.92178	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28764	0.0713	N	0.12637	0.245	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.97	T	0.21415	-1.0246	9	0.38643	T	0.18	-20.9575	16.4307	0.83841	0.0:1.0:0.0:0.0	.	1126;817;797	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	T	817;797;780;760;1126	ENSP00000408592:A817T;ENSP00000381556:A797T;ENSP00000444044:A780T;ENSP00000390245:A760T;ENSP00000269844:A1126T	ENSP00000269844:A1126T	A	-	1	0	PRDM15	42109244	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	7.413000	0.80104	2.106000	0.64143	0.645000	0.84053	GCG		PASS	0.637	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		4	104	4	104	---	---	---	---
RSPH14	27156	broad.mit.edu	37	22	23476328	23476328	+	Silent	SNP	G	G	A	rs532637699		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr22:23476328G>A	ENST00000216036.4	-	4	502	c.306C>T	c.(304-306)taC>taT	p.Y102Y	Metazoa_SRP_ENST00000606537.1_RNA|AC000029.1_ENST00000408142.1_RNA	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		102								p.Y102Y(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTAGAAAGGCGTATCTAGGGA	0.557													G|||	0	0.0	0.0	0.0	5008	,	,		16999	0.0		0.0	False		,,,				2504	0.0					uc002zwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(304-306)TAC>TAT		rhabdoid tumor deletion region protein 1							149.0	109.0	123.0					22																	23476328		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23476328G>A																												ENST00000216036.4:c.306C>T	22.37:g.23476328G>A						RTDR1_uc010gtv.1_Silent_p.Y102Y	p.Y102Y	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	4	464	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		102						Silent	SNP	ENST00000216036.4	37	c.306C>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	G	4.565	0.104914	0.08731	.	.	ENSG00000100218	ENST00000439064	.	.	.	5.07	-10.1	0.00402	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.32205	N	0.577233	.	.	.	.	.	.	T	0.08411	-1.0723	4	.	.	.	-0.0295	1.6367	0.02743	0.1348:0.2288:0.302:0.3344	.	.	.	.	C	27	.	.	R	-	1	0	RTDR1	21806328	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.517000	0.02248	-3.948000	0.00088	-0.323000	0.08544	CGC		PASS	0.557	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			73	105	73	105	---	---	---	---
CRYBB3	1417	broad.mit.edu	37	22	25601324	25601324	+	Silent	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr22:25601324C>T	ENST00000215855.2	+	5	545	c.465C>T	c.(463-465)aaC>aaT	p.N155N	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	155	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.N155N(1)		large_intestine(2)|lung(2)|prostate(1)	5						GTGCCATCAACGGGACGTAAG	0.547																																						uc003abo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)AAC>AAT		crystallin, beta B3							83.0	66.0	71.0					22																	25601324		2203	4300	6503	SO:0001819	synonymous_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25601324C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.465C>T	22.37:g.25601324C>T							p.N155N	NM_004076	NP_004067	P26998	CRBB3_HUMAN			5	537	+			155			Beta/gamma crystallin 'Greek key' 3.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Silent	SNP	ENST00000215855.2	37	c.465C>T	CCDS13830.1																																																																																				PASS	0.547	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		5	82	5	82	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26747016	26747016	+	Splice_Site	SNP	A	A	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr22:26747016A>C	ENST00000248933.6	+	12	2502		c.e12-1		SEZ6L_ENST00000343706.4_Splice_Site|SEZ6L_ENST00000529632.2_Splice_Site|SEZ6L_ENST00000402979.1_Splice_Site|SEZ6L_ENST00000404234.3_Splice_Site|SEZ6L_ENST00000411842.2_Splice_Site|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000403121.1_Splice_Site			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CATCCCGTGTAGTTATGTACT	0.522																																						uc003acb.2																			1	Unknown(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.e12-2		seizure related 6 homolog (mouse)-like							81.0	71.0	74.0					22																	26747016		2203	4300	6503	SO:0001630	splice_region_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26747016A>C	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2408-1A>C	22.37:g.26747016A>C						SEZ6L_uc003acc.2_Splice_Site_p.I803_splice|SEZ6L_uc011akc.1_Splice_Site_p.I803_splice|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Splice_Site_p.I803_splice|SEZ6L_uc003ace.2_Splice_Site_p.I803_splice|SEZ6L_uc003acf.1_Splice_Site_p.I576_splice|SEZ6L_uc010gvc.1_Splice_Site_p.I576_splice|SEZ6L_uc011ake.1_Splice_Site	p.I803_splice	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			12	2564	+								A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Splice_Site	SNP	ENST00000248933.6	37	c.2408_splice	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	a	11.85	1.762183	0.31228	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0392	0.58889	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEZ6L	25077016	1.000000	0.71417	0.892000	0.35008	0.195000	0.23768	8.105000	0.89553	1.881000	0.54492	0.441000	0.28932	.		PASS	0.522	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		Intron	71	144	71	144	---	---	---	---
SLC5A1	6523	broad.mit.edu	37	22	32445945	32445945	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr22:32445945A>C	ENST00000266088.4	+	2	401	c.151A>C	c.(151-153)Aat>Cat	p.N51H		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	51			N -> S (in dbSNP:rs17683011).		carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.N51H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GTTTTCCACCAATCGTGGGAC	0.473																																						uc003amc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(151-153)AAT>CAT		solute carrier family 5 (sodium/glucose							254.0	235.0	242.0					22																	32445945		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32445945A>C		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.151A>C	22.37:g.32445945A>C	ENSP00000266088:p.Asn51His						p.N51H	NM_000343	NP_000334	P13866	SC5A1_HUMAN			2	383	+			51			Cytoplasmic (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.151A>C	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860136	0.51482	.	.	ENSG00000100170	ENST00000266088	D	0.86497	-2.13	5.55	4.52	0.55395	.	0.131624	0.64402	D	0.000002	D	0.92662	0.7668	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.91904	0.5534	10	0.59425	D	0.04	.	8.3195	0.32121	0.9101:0.0:0.0899:0.0	.	51	P13866	SC5A1_HUMAN	H	51	ENSP00000266088:N51H	ENSP00000266088:N51H	N	+	1	0	SLC5A1	30775945	1.000000	0.71417	0.877000	0.34402	0.596000	0.36781	5.698000	0.68302	0.935000	0.37341	0.450000	0.29827	AAT		PASS	0.473	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		366	484	366	484	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40074003	40074003	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr22:40074003G>A	ENST00000402142.3	+	31	4945	c.4945G>A	c.(4945-4947)Gag>Aag	p.E1649K	CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1614K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1649K|CACNA1I_ENST00000336649.4_Missense_Mutation_p.E1655K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1614K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1614K	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1649					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.E1614K(1)|p.E1649K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCAACGACGAGAACCCGTG	0.657																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(4945-4947)GAG>AAG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						26.0	27.0	27.0					22																	40074003		2064	4192	6256	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40074003G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4945G>A	22.37:g.40074003G>A	ENSP00000385019:p.Glu1649Lys					CACNA1I_uc003ayd.2_Missense_Mutation_p.E1614K|CACNA1I_uc003aye.2_Missense_Mutation_p.E1564K|CACNA1I_uc003ayf.2_Missense_Mutation_p.E1529K	p.E1649K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			31	4945	+	Melanoma(58;0.0749)		1649			Extracellular (Potential).|IV.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.4945G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979912	0.53827	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	4.65	4.65	0.58169	Ion transport (1);	0.128433	0.53938	D	0.000055	D	0.97331	0.9127	L	0.33245	0.995	0.53688	D	0.99997	D;D;D;D	0.71674	0.977;0.975;0.995;0.998	B;B;P;P	0.57620	0.415;0.4;0.749;0.824	D	0.96512	0.9379	10	0.27082	T	0.32	.	16.0788	0.80985	0.0:0.0:1.0:0.0	.	1614;1649;1614;1649	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	K	1649;1614;1649;1614;1655;1614	ENSP00000385019:E1649K;ENSP00000384093:E1614K;ENSP00000383887:E1649K;ENSP00000385680:E1614K;ENSP00000337829:E1655K;ENSP00000383028:E1614K	ENSP00000337829:E1655K	E	+	1	0	CACNA1I	38403949	1.000000	0.71417	0.985000	0.45067	0.420000	0.31355	5.356000	0.66052	2.291000	0.77112	0.448000	0.29417	GAG		PASS	0.657	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		4	6	4	6	---	---	---	---
PNPLA5	150379	broad.mit.edu	37	22	44285214	44285214	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr22:44285214G>T	ENST00000597664.1	-	4	826	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	PNPLA5_ENST00000216177.4_Missense_Mutation_p.L233I|PNPLA5_ENST00000381198.2_Missense_Mutation_p.L119I|PNPLA5_ENST00000593866.1_Missense_Mutation_p.L119I			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	233					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.L233I(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTACCTCGAGGCTGGGGGGT	0.577																																						uc003beg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)CTC>ATC		patatin-like phospholipase domain containing 5							53.0	57.0	56.0					22																	44285214		2203	4300	6503	SO:0001583	missense	150379				lipid catabolic process		hydrolase activity	g.chr22:44285214G>T	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.697C>A	22.37:g.44285214G>T	ENSP00000471069:p.Leu233Ile					PNPLA5_uc011aqc.1_Missense_Mutation_p.L93I|PNPLA5_uc003beh.2_Missense_Mutation_p.L119I	p.L233I	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN			4	794	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	233					B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37	c.697C>A		.	.	.	.	.	.	.	.	.	.	G	7.202	0.593758	0.13875	.	.	ENSG00000100341	ENST00000216177;ENST00000381198	T;T	0.79033	-1.23;0.87	4.87	0.232	0.15381	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.693493	0.12851	N	0.433906	T	0.60766	0.2294	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.44817	-0.9303	10	0.33141	T	0.24	-0.8965	6.233	0.20747	0.2337:0.1337:0.6326:0.0	.	119;233	Q7Z6Z6-2;Q7Z6Z6	.;PLPL5_HUMAN	I	233;119	ENSP00000216177:L233I;ENSP00000370595:L119I	ENSP00000216177:L233I	L	-	1	0	PNPLA5	42616547	0.047000	0.20315	0.000000	0.03702	0.007000	0.05969	1.114000	0.31196	-0.040000	0.13580	0.491000	0.48974	CTC		PASS	0.577	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		102	154	102	154	---	---	---	---
GLRA2	2742	broad.mit.edu	37	X	14550411	14550411	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:14550411A>T	ENST00000218075.4	+	2	649	c.119A>T	c.(118-120)cAg>cTg	p.Q40L	GLRA2_ENST00000355020.4_Missense_Mutation_p.Q40L|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	40					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.Q40L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	CAACCTTCACAGACCCTATCT	0.403																																						uc010nep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(118-120)CAG>CTG		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						136.0	124.0	128.0					X																	14550411		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14550411A>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.119A>T	X.37:g.14550411A>T	ENSP00000218075:p.Gln40Leu					GLRA2_uc010neq.2_Missense_Mutation_p.Q40L|GLRA2_uc004cwe.3_Missense_Mutation_p.Q40L|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.Q18L	p.Q40L	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			3	451	+	Hepatocellular(33;0.128)		40			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.119A>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792166	0.50102	.	.	ENSG00000101958	ENST00000218075;ENST00000355020;ENST00000415367	T;T;T	0.79653	-1.29;-1.29;0.44	4.87	4.87	0.63330	.	0.218698	0.41097	D	0.000954	T	0.62245	0.2412	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.57734	-0.7760	10	0.27082	T	0.32	.	11.4889	0.50369	1.0:0.0:0.0:0.0	.	24;40;40	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	L	40;40;24	ENSP00000218075:Q40L;ENSP00000347123:Q40L;ENSP00000391606:Q24L	ENSP00000218075:Q40L	Q	+	2	0	GLRA2	14460332	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.925000	0.56484	1.711000	0.51337	0.481000	0.45027	CAG		PASS	0.403	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			69	33	69	33	---	---	---	---
RAI2	10742	broad.mit.edu	37	X	17820021	17820021	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:17820021G>T	ENST00000545871.1	-	3	570	c.110C>A	c.(109-111)gCc>gAc	p.A37D	RAI2_ENST00000451717.1_Missense_Mutation_p.A37D|RAI2_ENST00000331511.1_Missense_Mutation_p.A37D|RAI2_ENST00000415486.3_Missense_Mutation_p.A37D|RAI2_ENST00000360011.1_Missense_Mutation_p.A37D	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	37					embryo development (GO:0009790)			p.A37D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GATGTTCCAGGCCTCGGTGGT	0.577																																						uc004cyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(109-111)GCC>GAC		retinoic acid induced 2							137.0	128.0	131.0					X																	17820021		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17820021G>T	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.110C>A	X.37:g.17820021G>T	ENSP00000444210:p.Ala37Asp					RAI2_uc004cyg.2_Missense_Mutation_p.A37D|RAI2_uc010nfa.2_Missense_Mutation_p.A37D|RAI2_uc004cyh.3_Missense_Mutation_p.A37D|RAI2_uc011miy.1_Missense_Mutation_p.A37D	p.A37D	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			3	680	-	Hepatocellular(33;0.183)		37					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.110C>A	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086684	0.55861	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.46451	1.19;1.19;1.19;1.19;0.87	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000013	T	0.51227	0.1662	N	0.24115	0.695	0.58432	D	0.999993	D;D	0.67145	0.996;0.996	D;D	0.63793	0.918;0.918	T	0.56565	-0.7958	10	0.87932	D	0	-23.7189	18.707	0.91643	0.0:0.0:1.0:0.0	.	37;37	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	D	37	ENSP00000333456:A37D;ENSP00000353106:A37D;ENSP00000444210:A37D;ENSP00000401323:A37D;ENSP00000392578:A37D	ENSP00000333456:A37D	A	-	2	0	RAI2	17729942	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.132000	0.94455	2.362000	0.80069	0.529000	0.55759	GCC		PASS	0.577	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		236	111	236	111	---	---	---	---
MAP7D2	256714	broad.mit.edu	37	X	20030581	20030581	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:20030581T>C	ENST00000379651.3	-	14	1853	c.1835A>G	c.(1834-1836)gAc>gGc	p.D612G	MAP7D2_ENST00000379643.5_Missense_Mutation_p.D653G|MAP7D2_ENST00000543767.1_Missense_Mutation_p.D497G|MAP7D2_ENST00000443379.3_Missense_Mutation_p.D567G|MAP7D2_ENST00000452324.3_Missense_Mutation_p.D560G	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	612					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.D653G(1)|p.D612G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGAGAAAATGTCTTGGGGATA	0.458																																						uc004czr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1834-1836)GAC>GGC		MAP7 domain containing 2							146.0	131.0	136.0					X																	20030581		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20030581T>C	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1835A>G	X.37:g.20030581T>C	ENSP00000368972:p.Asp612Gly					MAP7D2_uc004czq.1_Missense_Mutation_p.D497G|MAP7D2_uc011mji.1_Missense_Mutation_p.D560G|MAP7D2_uc010nfo.1_Missense_Mutation_p.D653G|MAP7D2_uc011mjj.1_Missense_Mutation_p.D567G	p.D612G	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			14	1854	-			612					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1835A>G	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850172	0.71719	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.28666	1.93;3.58;3.58;1.6;1.94	5.27	5.27	0.74061	.	0.145698	0.47455	D	0.000240	T	0.50565	0.1623	L	0.56769	1.78	0.41765	D	0.989737	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.997	D;D;D;D;D	0.73380	0.954;0.98;0.98;0.933;0.948	T	0.49418	-0.8942	10	0.42905	T	0.14	-18.9828	14.3584	0.66752	0.0:0.0:0.0:1.0	.	567;560;653;612;497	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	G	612;653;497;567;295;560	ENSP00000368972:D612G;ENSP00000368964:D653G;ENSP00000440691:D497G;ENSP00000388239:D567G;ENSP00000413301:D560G	ENSP00000368964:D653G	D	-	2	0	MAP7D2	19940502	0.999000	0.42202	0.370000	0.25965	0.945000	0.59286	5.390000	0.66261	1.769000	0.52152	0.427000	0.28365	GAC		PASS	0.458	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		107	51	107	51	---	---	---	---
MAP7D2	256714	broad.mit.edu	37	X	20034289	20034289	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:20034289G>A	ENST00000379651.3	-	10	1462	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R523W|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R367W|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R437W|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R430W	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	482					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.R482W(1)|p.R523W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tcagccttccgcttggcctcc	0.473																																						uc004czr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1444-1446)CGG>TGG		MAP7 domain containing 2							164.0	155.0	158.0					X																	20034289		2201	4295	6496	SO:0001583	missense	256714							g.chrX:20034289G>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1444C>T	X.37:g.20034289G>A	ENSP00000368972:p.Arg482Trp					MAP7D2_uc004czq.1_Missense_Mutation_p.R367W|MAP7D2_uc011mji.1_Missense_Mutation_p.R430W|MAP7D2_uc010nfo.1_Missense_Mutation_p.R523W|MAP7D2_uc011mjj.1_Missense_Mutation_p.R437W	p.R482W	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			10	1463	-			482					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1444C>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868490	0.32977	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	4.77	-4.32	0.03688	.	1.401660	0.04503	N	0.381481	T	0.34279	0.0892	M	0.71036	2.16	0.09310	N	1	B;B;B;B;B	0.19935	0.04;0.033;0.033;0.04;0.033	B;B;B;B;B	0.14023	0.01;0.006;0.01;0.01;0.006	T	0.43750	-0.9372	10	0.87932	D	0	0.2081	4.9293	0.13909	0.0857:0.1127:0.1785:0.623	.	437;430;523;482;367	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	W	482;523;367;437;165;430	ENSP00000368972:R482W;ENSP00000368964:R523W;ENSP00000440691:R367W;ENSP00000388239:R437W;ENSP00000413301:R430W	ENSP00000368964:R523W	R	-	1	2	MAP7D2	19944210	0.026000	0.19158	0.001000	0.08648	0.794000	0.44872	-0.040000	0.12104	-0.797000	0.04450	0.540000	0.68198	CGG		PASS	0.473	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		11	8	11	8	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53659447	53659447	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:53659447C>T	ENST00000342160.3	-	8	1094	c.637G>A	c.(637-639)Gag>Aag	p.E213K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E213K|HUWE1_ENST00000218328.8_Missense_Mutation_p.E213K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	213					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E213K(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCCTTTTCTCAATTTTGACC	0.388																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(637-639)GAG>AAG		HECT, UBA and WWE domain containing 1							127.0	108.0	114.0					X																	53659447		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53659447C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.637G>A	X.37:g.53659447C>T	ENSP00000340648:p.Glu213Lys						p.E213K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			9	1039	-			213					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.637G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598946	0.66332	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.47528	1.15;1.15;0.84	5.54	5.54	0.83059	E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.129108	0.50627	D	0.000112	T	0.45617	0.1351	L	0.52573	1.65	0.58432	D	0.999999	B	0.24823	0.112	B	0.28991	0.097	T	0.32798	-0.9893	10	0.20046	T	0.44	.	17.1528	0.86782	0.0:1.0:0.0:0.0	.	213	Q7Z6Z7	HUWE1_HUMAN	K	213	ENSP00000340648:E213K;ENSP00000262854:E213K;ENSP00000218328:E213K	ENSP00000218328:E213K	E	-	1	0	HUWE1	53676172	1.000000	0.71417	0.981000	0.43875	0.898000	0.52572	7.308000	0.78929	2.315000	0.78130	0.594000	0.82650	GAG		PASS	0.388	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		41	18	41	18	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83319290	83319290	+	Silent	SNP	G	G	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:83319290G>A	ENST00000262752.2	-	22	2240	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L	RPS6KA6_ENST00000543399.1_Silent_p.L745L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	745					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.L745L(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						AAATCTTACAGGCCAGTTGAT	0.448																																						uc004eej.1																			1	Substitution - coding silent(1)		lung(1)	lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(2233-2235)CTG>TTG		ribosomal protein S6 kinase polypeptide 6							90.0	71.0	78.0					X																	83319290		2203	4300	6503	SO:0001819	synonymous_variant	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:83319290G>A	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.2233C>T	X.37:g.83319290G>A						RPS6KA6_uc011mqt.1_Silent_p.L745L|RPS6KA6_uc011mqu.1_Silent_p.L642L	p.L745L	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			22	2310	-			745					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.2233C>T	CCDS14451.1																																																																																				PASS	0.448	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		5	17	5	17	---	---	---	---
NGFRAP1	27018	broad.mit.edu	37	X	102632595	102632596	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:102632595_102632596GG>CC	ENST00000372645.3	+	3	503_504	c.176_177GG>CC	c.(175-177)gGG>gCC	p.G59A	NGFRAP1_ENST00000372635.1_Missense_Mutation_p.G59A|NGFRAP1_ENST00000372634.1_Missense_Mutation_p.G49A|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.G59A|NGFRAP1_ENST00000361298.4_Missense_Mutation_p.G49A			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)	p.G59A(2)|p.G59G(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATCAATGATGGGATGGGTGGAG	0.505																																						uc004eki.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(175-177)GGG>GCG|c.(175-177)GGG>GGC		nerve growth factor receptor (TNFRSF16)																																				SO:0001583	missense	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632595G>C|g.chrX:102632596G>C	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	Exception_encountered	X.37:g.102632595_102632596delinsCC	ENSP00000361728:p.Gly59Ala					NGFRAP1_uc004ekh.2_Missense_Mutation_p.G49A|NGFRAP1_uc004ekj.1_Missense_Mutation_p.G59A|NGFRAP1_uc004ekh.2_Silent_p.G49G|NGFRAP1_uc004ekj.1_Silent_p.G59G	p.G59A|p.G59G	NM_206915	NP_996798	Q00994	BEX3_HUMAN			3	558|559	+			59					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Missense_Mutation|Silent	SNP	ENST00000372645.3	37	c.176G>C|c.177G>C	CCDS14508.1																																																																																				PASS	0.505	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		213|216	119|120	213	119	---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129042041	129042041	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:129042041C>A	ENST00000394422.3	+	3	136	c.108C>A	c.(106-108)gaC>gaA	p.D36E	UTP14A_ENST00000371051.5_Missense_Mutation_p.T4K|UTP14A_ENST00000425117.2_Missense_Mutation_p.D36E|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	36					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.D36E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CTTAGGGGGACAATGATGGAG	0.398																																						uc004euz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(106-108)GAC>GAA		UTP14, U3 small nucleolar ribonucleoprotein,							101.0	91.0	94.0					X																	129042041		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129042041C>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.108C>A	X.37:g.129042041C>A	ENSP00000377944:p.Asp36Glu					UTP14A_uc011mup.1_Missense_Mutation_p.D36E|UTP14A_uc011muq.1_Missense_Mutation_p.T4K	p.D36E	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			3	136	+			36					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.108C>A	CCDS14615.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.969703|2.969703	0.53614|0.53614	.|.	.|.	ENSG00000156697|ENSG00000156697	ENST00000425117;ENST00000394422|ENST00000371051	T;T|T	0.17691|0.17528	2.26;2.26|2.27	5.0|5.0	-0.00706|-0.00706	0.14011|0.14011	.|.	0.370692|.	0.31859|.	N|.	0.006958|.	T|T	0.14874|0.14874	0.0359|0.0359	L|L	0.55481|0.55481	1.735|1.735	0.19945|0.19945	N|N	0.999945|0.999945	D;D|B	0.61080|0.06786	0.989;0.989|0.001	P;P|B	0.59643|0.10450	0.861;0.793|0.005	T|T	0.31223|0.31223	-0.9951|-0.9951	10|9	0.41790|0.87932	T|D	0.15|0	-3.6247|-3.6247	3.8422|3.8422	0.08918|0.08918	0.286:0.4583:0.0:0.2557|0.286:0.4583:0.0:0.2557	.|.	36;36|4	E9PEL7;Q9BVJ6|F8WD00	.;UT14A_HUMAN|.	E|K	36|4	ENSP00000388669:D36E;ENSP00000377944:D36E|ENSP00000360090:T4K	ENSP00000377944:D36E|ENSP00000360090:T4K	D|T	+|+	3|2	2|0	UTP14A|UTP14A	128869722|128869722	0.005000|0.005000	0.15991|0.15991	0.082000|0.082000	0.20525|0.20525	0.738000|0.738000	0.42128|0.42128	-0.196000|-0.196000	0.09532|0.09532	-0.540000|-0.540000	0.06265|0.06265	0.422000|0.422000	0.28245|0.28245	GAC|ACA		PASS	0.398	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		3	119	3	119	---	---	---	---
STK26	51765	broad.mit.edu	37	X	131206391	131206391	+	Splice_Site	SNP	T	T	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:131206391T>C	ENST00000354719.6	+	9	1242		c.e9+2		MST4_ENST00000496850.1_Splice_Site|MST4_ENST00000481105.1_Splice_Site|MST4_ENST00000394334.2_Splice_Site|MST4_ENST00000394335.2_Splice_Site														p.?(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AATGGGGCAGTATGTATATGG	0.388																																						uc004ewk.1																			1	Unknown(1)		lung(1)	ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9						c.e9+2		serine/threonine protein kinase MST4 isoform 1							95.0	73.0	80.0					X																	131206391		2203	4300	6503	SO:0001630	splice_region_variant	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131206391T>C																												ENST00000354719.6:c.1026+2T>C	X.37:g.131206391T>C						MST4_uc004ewl.1_Splice_Site_p.A265_splice|MST4_uc011mux.1_Splice_Site_p.A364_splice|MST4_uc010nrj.1_Splice_Site_p.A342_splice|MST4_uc004ewm.1_Splice_Site_p.A280_splice	p.A342_splice	NM_016542	NP_057626	Q9P289	MST4_HUMAN			9	1327	+	Acute lymphoblastic leukemia(192;0.000127)								Splice_Site	SNP	ENST00000354719.6	37	c.1026_splice		.	.	.	.	.	.	.	.	.	.	T	24.0	4.480519	0.84747	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9739	0.71254	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	AL109749.1	131034072	1.000000	0.71417	0.949000	0.38748	0.953000	0.61014	6.976000	0.76135	1.918000	0.55548	0.486000	0.48141	.		PASS	0.388	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2		Intron	34	13	34	13	---	---	---	---
FGF13	2258	broad.mit.edu	37	X	137791014	137791014	+	Silent	SNP	G	G	C			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:137791014G>C	ENST00000315930.6	-	2	925	c.264C>G	c.(262-264)acC>acG	p.T88T	FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000541469.1_Silent_p.T42T|FGF13_ENST00000305414.4_Silent_p.T35T|FGF13_ENST00000370603.3_Silent_p.T98T|FGF13_ENST00000441825.2_Silent_p.T69T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	88	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.T88T(1)|p.T35T(1)|p.T98T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCCATCAATGGTTCCATCCG	0.408																																						uc004fam.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(262-264)ACC>ACG		fibroblast growth factor 13 isoform 1							193.0	169.0	177.0					X																	137791014		2203	4300	6503	SO:0001819	synonymous_variant	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137791014G>C	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.264C>G	X.37:g.137791014G>C						FGF13_uc004fan.2_Silent_p.T35T|FGF13_uc011mwi.1_Silent_p.T69T|FGF13_uc004faq.2_Silent_p.T98T|FGF13_uc004far.2_Silent_p.T69T|FGF13_uc011mwj.1_Silent_p.T98T|FGF13_uc011mwk.1_Silent_p.T42T	p.T88T	NM_004114	NP_004105	Q92913	FGF13_HUMAN			2	926	-	Acute lymphoblastic leukemia(192;0.000127)		88					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000315930.6	37	c.264C>G	CCDS14665.1																																																																																				PASS	0.408	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		130	54	130	54	---	---	---	---
CDR1	1038	broad.mit.edu	37	X	139865876	139865876	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:139865876C>G	ENST00000370532.2	-	1	847	c.656G>C	c.(655-657)gGa>gCa	p.G219A		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	219								p.G219A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCACCAAATCCAGGTCTTCC	0.438																																						uc004fbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)GGA>GCA		cerebellar degeneration-related protein 1,							120.0	114.0	116.0					X																	139865876		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139865876C>G		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.656G>C	X.37:g.139865876C>G	ENSP00000359563:p.Gly219Ala					uc004fbf.1_RNA	p.G219A	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	848	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	219					Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.656G>C	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656800	0.67586	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.58	2.78	0.32641	.	.	.	.	.	T	0.23886	0.0578	N	0.08118	0	0.21020	N	0.999807	D	0.64830	0.994	P	0.58577	0.841	T	0.06320	-1.0833	7	.	.	.	.	3.9602	0.09407	0.192:0.5966:0.0:0.2115	.	219	P51861	CDR1_HUMAN	A	219	.	.	G	-	2	0	CDR1	139693542	0.001000	0.12720	0.724000	0.30704	0.376000	0.30014	0.295000	0.19065	0.429000	0.26202	0.422000	0.28245	GGA		PASS	0.438	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		7	229	7	229	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140996561	140996561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chrX:140996561C>A	ENST00000285879.4	+	4	3657	c.3371C>A	c.(3370-3372)tCg>tAg	p.S1124*	MAGEC1_ENST00000406005.2_Nonsense_Mutation_p.S191*	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1124								p.S1124*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGATGATTCGACTGCCACA	0.483										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(3370-3372)TCG>TAG		melanoma antigen family C, 1							91.0	78.0	82.0					X																	140996561		2203	4300	6503	SO:0001587	stop_gained	9947						protein binding	g.chrX:140996561C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3371C>A	X.37:g.140996561C>A	ENSP00000285879:p.Ser1124*	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Nonsense_Mutation_p.S191*	p.S1124*	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3657	+	Acute lymphoblastic leukemia(192;6.56e-05)		1124					A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	37	c.3371C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	16.01	3.001619	0.54254	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	.	.	.	1.06	1.06	0.20224	.	.	.	.	.	.	.	.	.	.	.	0.22629	N	0.998917	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1278	0.14894	0.0:1.0:0.0:0.0	.	.	.	.	X	1124;191	.	ENSP00000285879:S1124X	S	+	2	0	MAGEC1	140824227	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.159000	0.16442	0.811000	0.34303	0.279000	0.19357	TCG		PASS	0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		131	45	131	45	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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.S2026_T2027insS(3)		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)		TGTCACCAGTGGATGCTGAGGA	0.579																																						uc011bto.1																			3	Insertion - In frame(3)		large_intestine(2)|breast(1)		0						c.(6076-6078)TCC>TCATCC		mucin 4 isoform a			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	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.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.2026_2026S>SS	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	6537_6538	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																					0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	3	4	3	---	---	---	---
PMCH	5367	broad.mit.edu	37	12	102591380	102591381	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr12:102591380_102591381insT	ENST00000329406.4	-	1	242_243	c.168_169insA	c.(166-171)aaatcafs	p.S57fs		NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	57					cell differentiation (GO:0030154)|feeding behavior (GO:0007631)|multicellular organismal development (GO:0007275)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						GCAATAACTGATTTTTCTGCAG	0.366																																						uc001tjl.2																			0					0						c.(166-171)AAATCAfs		pro-melanin-concentrating hormone																																				SO:0001589	frameshift_variant	5367				cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity	g.chr12:102591380_102591381insT	M57703	CCDS31885.1	12q23.2	2013-02-26			ENSG00000183395	ENSG00000183395		"""Endogenous ligands"""	9109	protein-coding gene	gene with protein product		176795				2149166	Standard	NM_002674		Approved	MCH	uc001tjl.3	P20382	OTTHUMG00000170479	ENST00000329406.4:c.169dupA	12.37:g.102591385_102591385dupT	ENSP00000332225:p.Ser57fs						p.K56fs	NM_002674	NP_002665	P20382	MCH_HUMAN			1	234_235	-			56_57					Q16044|Q8WVG0	Frame_Shift_Ins	INS	ENST00000329406.4	37	c.168_169insA	CCDS31885.1																																																																																					0.366	PMCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409337.1	NM_002674		39	27	39	27	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9837542	9837542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:9837542delC	ENST00000432992.2	-	9	986	c.826delG	c.(826-828)gccfs	p.A276fs	GAS7_ENST00000579158.1_Frame_Shift_Del_p.A212fs|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Frame_Shift_Del_p.A216fs|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Frame_Shift_Del_p.A212fs|GAS7_ENST00000323816.4_Frame_Shift_Del_p.A216fs|GAS7_ENST00000542249.1_Frame_Shift_Del_p.A212fs|GAS7_ENST00000580865.1_Frame_Shift_Del_p.A136fs	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	276	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TTCACCTGGGCCCACGCCTCT	0.587			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				lung(1)|pancreas(1)	2						c.(826-828)GCCfs		growth arrest-specific 7 isoform c							88.0	64.0	72.0					17																	9837542		2203	4300	6503	SO:0001589	frameshift_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9837542delC	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.826delG	17.37:g.9837542delC	ENSP00000407552:p.Ala276fs					GAS7_uc010vvc.1_Frame_Shift_Del_p.A90fs|GAS7_uc002gmh.1_Frame_Shift_Del_p.A136fs|GAS7_uc010vvd.1_Frame_Shift_Del_p.A228fs|GAS7_uc002gmi.2_Frame_Shift_Del_p.A212fs|GAS7_uc002gmj.1_Frame_Shift_Del_p.A216fs|GAS7_uc010coh.1_Frame_Shift_Del_p.A216fs	p.A276fs	NM_201433	NP_958839	O60861	GAS7_HUMAN			9	987	-			276			FCH.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Frame_Shift_Del	DEL	ENST00000432992.2	37	c.826delG	CCDS11152.1																																																																																					0.587	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		57	29	57	29	---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs377391469|rs142406301		TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr17:73626918_73626919insTG	ENST00000317905.5	-	12	1745		c.e12-1		RECQL5_ENST00000423245.2_Splice_Site|RECQL5_ENST00000443199.2_Splice_Site|SMIM5_ENST00000375215.3_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function																														uc010dgl.2																			1	Unknown(1)		upper_aerodigestive_tract(1)	kidney(3)	3						c.e12-1	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1																																				SO:0001630	splice_region_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73626918_73626919insTG	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1586-1->CA	17.37:g.73626921_73626922dupTG						RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	p.D529_splice	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		12	1742	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)							Q9H0B1|Q9P1W7|Q9UNC8	Splice_Site	INS	ENST00000317905.5	37	c.1586_splice	CCDS42380.1																																																																																					0.644	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	Intron	9	7	9	7	---	---	---	---
ZNF271	10778	broad.mit.edu	37	18	32886765	32886765	+	RNA	DEL	G	G	-			TCGA-66-2800-01A-01D-1267-08	TCGA-66-2800-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	803ec3a5-4347-41c3-a7b6-7eb00427a48c	ec60a2b3-76d2-4c72-b3dd-6bf632664b6a	g.chr18:32886765delG	ENST00000399070.3	+	0	1159					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						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.V59V(1)		large_intestine(3)|lung(9)	12						TAATGAGTGTGGGAAAGCTTT	0.388																																						uc002kyq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)GTGfs		SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA;							70.0	72.0	71.0					18																	32886765		2203	4300	6503			10778							g.chr18:32886765delG	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886765delG						ZNF271_uc002kyp.3_Frame_Shift_Del_p.V59fs|ZNF271_uc002kyr.3_Frame_Shift_Del_p.V59fs	p.V59fs	NR_024565						3	1169	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	Frame_Shift_Del	DEL	ENST00000399070.3	37	c.177delG																																																																																						0.388	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		77	36	77	36	---	---	---	---
