#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
CAMTA1	23261	broad.mit.edu	37	1	7724016	7724016	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:7724016T>A	ENST00000303635.7	+	9	1616	c.1409T>A	c.(1408-1410)cTc>cAc	p.L470H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.L470H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L470H(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCACCACCCTCGACGGTGGC	0.597			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1408-1410)CTC>CAC		calmodulin-binding transcription activator 1							72.0	80.0	78.0					1																	7724016		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724016T>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1409T>A	1.37:g.7724016T>A	ENSP00000306522:p.Leu470His						p.L470H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1616	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	470					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1409T>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	t	17.42	3.384455	0.61845	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.62639	0.01;0.01	5.02	5.02	0.67125	.	0.161698	0.40640	N	0.001043	T	0.74390	0.3710	L	0.55481	1.735	0.52501	D	0.999954	D	0.89917	1.0	D	0.85130	0.997	T	0.74559	-0.3625	10	0.42905	T	0.14	-16.8594	14.7783	0.69746	0.0:0.0:0.0:1.0	.	470	Q9Y6Y1	CMTA1_HUMAN	H	470	ENSP00000306522:L470H;ENSP00000402561:L470H	ENSP00000306522:L470H	L	+	2	0	CAMTA1	7646603	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	6.196000	0.72094	1.904000	0.55121	0.444000	0.29173	CTC		PASS	0.597	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		35	104	35	104	---	---	---	---
FBXO2	26232	broad.mit.edu	37	1	11708778	11708778	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:11708778G>A	ENST00000354287.4	-	6	1205	c.864C>T	c.(862-864)acC>acT	p.T288T	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	288	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)	p.T288T(1)		kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGCTGTTGGTCACCCGGG	0.652																																						uc001asj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(862-864)ACC>ACT		F-box only protein 2							37.0	40.0	39.0					1																	11708778		2203	4300	6503	SO:0001819	synonymous_variant	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11708778G>A	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.864C>T	1.37:g.11708778G>A						FBXO2_uc009vna.2_Silent_p.T291T	p.T288T	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	6	1206	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	288			FBA.		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Silent	SNP	ENST00000354287.4	37	c.864C>T	CCDS130.1																																																																																				PASS	0.652	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168		35	50	35	50	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12387911	12387911	+	Splice_Site	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:12387911C>A	ENST00000358136.3	+	36	8327	c.8197C>A	c.(8197-8199)Cgt>Agt	p.R2733S	VPS13D_ENST00000356315.4_Splice_Site_p.R2733S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R2733S(2)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACCTTTTCCCGTGAGTGTTG	0.403																																						uc001atv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8197-8199)CGT>AGT		vacuolar protein sorting 13D isoform 1							143.0	126.0	131.0					1																	12387911		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12387911C>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8197+1C>A	1.37:g.12387911C>A						VPS13D_uc001atw.2_Missense_Mutation_p.R2733S|VPS13D_uc001atx.2_Missense_Mutation_p.R1921S|VPS13D_uc001aty.1_Missense_Mutation_p.R471S	p.R2733S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	36	8338	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2733						Missense_Mutation	SNP	ENST00000358136.3	37	c.8197C>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076252	0.55646	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.44482	0.92;0.92	5.51	5.51	0.81932	.	0.048977	0.85682	D	0.000000	T	0.45418	0.1341	M	0.63428	1.95	0.80722	D	1	P;B;B	0.51653	0.947;0.14;0.139	P;B;B	0.48227	0.571;0.085;0.039	T	0.30592	-0.9973	10	0.09338	T	0.73	.	14.9424	0.71003	0.0:0.9292:0.0:0.0708	.	640;2733;2733	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	S	2733	ENSP00000348666:R2733S;ENSP00000350854:R2733S	ENSP00000348666:R2733S	R	+	1	0	VPS13D	12310498	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.783000	0.55409	2.750000	0.94351	0.655000	0.94253	CGT		PASS	0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Missense_Mutation	31	75	31	75	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34076665	34076665	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:34076665G>T	ENST00000373380.1	-	20	3158	c.2938C>A	c.(2938-2940)Cca>Aca	p.P980T	CSMD2_ENST00000373388.2_Missense_Mutation_p.P206T|CSMD2_ENST00000373381.4_Missense_Mutation_p.P2107T|CSMD2_ENST00000373377.1_Missense_Mutation_p.P206T			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2067	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2067T(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGAATCCTGGCCGATTCTGG	0.562																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(6199-6201)CCA>ACA		CUB and Sushi multiple domains 2							109.0	93.0	98.0					1																	34076665		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34076665G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2938C>A	1.37:g.34076665G>T	ENSP00000362478:p.Pro980Thr					CSMD2_uc001bxm.1_Missense_Mutation_p.P2107T|CSMD2_uc001bxo.1_Missense_Mutation_p.P980T	p.P2067T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			41	6228	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2067			CUB 12.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6199C>A		.	.	.	.	.	.	.	.	.	.	G	26.1	4.700876	0.88924	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.26	5.26	0.73747	CUB (5);	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	N	0.25286	0.73	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.996	D;D;D	0.91635	0.999;0.911;0.955	T	0.04811	-1.0925	10	0.18276	T	0.48	.	17.8662	0.88795	0.0:0.0:1.0:0.0	.	980;2067;2107	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	T	2107;980;206;206	ENSP00000362479:P2107T;ENSP00000362478:P980T;ENSP00000362475:P206T;ENSP00000362486:P206T	ENSP00000241312:P2067T	P	-	1	0	CSMD2	33849252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.470000	0.83445	0.561000	0.74099	CCA		PASS	0.562	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		26	74	26	74	---	---	---	---
ATPAF1	64756	broad.mit.edu	37	1	47110897	47110897	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:47110897T>A	ENST00000371937.4	-	7	724	c.620A>T	c.(619-621)tAt>tTt	p.Y207F	ATPAF1_ENST00000542495.1_Missense_Mutation_p.Y56F|ATPAF1_ENST00000576409.1_Missense_Mutation_p.Y230F|ATPAF1_ENST00000532925.1_Missense_Mutation_p.Y119F|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000329231.4_Intron	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	207					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)		p.Y207F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					AAAAAACTCATAACCTTCCCT	0.403																																					Melanoma(138;107 1777 21672 30337 52312)	uc001cqh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(619-621)TAT>TTT		ATP synthase mitochondrial F1 complex assembly							172.0	163.0	166.0					1																	47110897		2203	4300	6503	SO:0001583	missense	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47110897T>A	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.620A>T	1.37:g.47110897T>A	ENSP00000361005:p.Tyr207Phe					ATPAF1_uc001cqg.2_Intron|ATPAF1_uc009vyk.2_Missense_Mutation_p.Y56F|ATPAF1_uc010omg.1_Missense_Mutation_p.Y119F|ATPAF1_uc001cqi.2_Intron	p.Y207F	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN			7	725	-	Acute lymphoblastic leukemia(166;0.155)		207					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37	c.620A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.418101|4.418101	0.83449|0.83449	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000534216|ENST00000371937;ENST00000492233;ENST00000542495;ENST00000532925	.|T	.|0.50813	.|0.73	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61924|0.61924	0.2386|0.2386	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.988	T|T	0.57277|0.57277	-0.7839|-0.7839	5|10	.|0.28530	.|T	.|0.3	-7.1952|-7.1952	16.1678|16.1678	0.81782|0.81782	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|119;207	.|B7Z7I6;Q5TC12	.|.;ATPF1_HUMAN	L|F	62|207;11;56;119	.|ENSP00000361005:Y207F	.|ENSP00000361005:Y207F	M|Y	-|-	1|2	0|0	ATPAF1|ATPAF1	46883484|46883484	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.218000|7.218000	0.77991|0.77991	2.218000|2.218000	0.71995|0.71995	0.528000|0.528000	0.53228|0.53228	ATG|TAT		PASS	0.403	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		90	291	90	291	---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52729506	52729506	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:52729506C>G	ENST00000371591.1	+	4	2371	c.2240C>G	c.(2239-2241)gCt>gGt	p.A747G	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.A747G|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.A747G	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	747					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.A747G(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGAAAGGAAGCTAGAGTGTGT	0.408																																						uc001cto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(2239-2241)GCT>GGT		zinc finger, FYVE domain containing 9 isoform 3							87.0	87.0	87.0					1																	52729506		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52729506C>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2240C>G	1.37:g.52729506C>G	ENSP00000360647:p.Ala747Gly					ZFYVE9_uc001ctn.2_Missense_Mutation_p.A747G|ZFYVE9_uc001ctp.2_Missense_Mutation_p.A747G	p.A747G	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			5	2412	+			747			FYVE-type.		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.2240C>G	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914696	0.92178	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.072669	0.52532	D	0.000069	T	0.58004	0.2092	L	0.41027	1.25	0.80722	D	1	B;P;D	0.89917	0.291;0.95;1.0	B;P;D	0.85130	0.144;0.835;0.997	T	0.57734	-0.7760	10	0.54805	T	0.06	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	747;747;747	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	G	747	ENSP00000349737:A747G;ENSP00000355358:A747G;ENSP00000287727:A747G;ENSP00000360647:A747G	ENSP00000287727:A747G	A	+	2	0	ZFYVE9	52502094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.683000	0.91414	0.655000	0.94253	GCT		PASS	0.408	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		6	10	6	10	---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53282232	53282232	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:53282232G>T	ENST00000294353.6	+	13	2120	c.1975G>T	c.(1975-1977)Ggc>Tgc	p.G659C	ZYG11B_ENST00000443756.2_Missense_Mutation_p.G589C|ZYG11B_ENST00000545132.1_3'UTR	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	659								p.G659S(1)|p.G659C(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CCCATTACTTGGCTGTTTCAC	0.378																																						uc001cuj.2																			2	Substitution - Missense(2)	p.G659S(1)	upper_aerodigestive_tract(1)|lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1975-1977)GGC>TGC		zyg-11 homolog B							151.0	151.0	151.0					1																	53282232		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53282232G>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1975G>T	1.37:g.53282232G>T	ENSP00000294353:p.Gly659Cys					ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.G580C|ZYG11B_uc009vzh.2_Missense_Mutation_p.G81C	p.G659C	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			13	2170	+			659					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.1975G>T	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941462	0.92526	.	.	ENSG00000162378	ENST00000443756;ENST00000294353	T;T	0.35789	1.29;1.29	5.13	5.13	0.70059	Armadillo-like helical (1);Armadillo-type fold (1);	0.095616	0.64402	D	0.000001	T	0.52191	0.1719	L	0.40543	1.245	0.80722	D	1	D;D	0.64830	0.994;0.986	D;P	0.66979	0.948;0.792	T	0.51988	-0.8635	10	0.56958	D	0.05	.	18.934	0.92577	0.0:0.0:1.0:0.0	.	589;659	B4DK95;Q9C0D3	.;ZY11B_HUMAN	C	589;659	ENSP00000400522:G589C;ENSP00000294353:G659C	ENSP00000294353:G659C	G	+	1	0	ZYG11B	53054820	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.263000	0.95617	2.538000	0.85594	0.555000	0.69702	GGC		PASS	0.378	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		130	145	130	145	---	---	---	---
MYSM1	114803	broad.mit.edu	37	1	59133586	59133586	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:59133586T>A	ENST00000472487.1	-	15	1814	c.1775A>T	c.(1774-1776)cAt>cTt	p.H592L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	592	MPN.				chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.H592L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CATAGAAACATGAGCATGCTA	0.343																																						uc009wab.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1774-1776)CAT>CTT		Myb-like, SWIRM and MPN domains 1							111.0	107.0	108.0					1																	59133586		1881	4122	6003	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59133586T>A	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1775A>T	1.37:g.59133586T>A	ENSP00000418734:p.His592Leu					MYSM1_uc009waa.1_5'UTR|MYSM1_uc001czc.2_RNA	p.H592L	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			15	1798	-	all_cancers(7;9.36e-06)		592			MPN.		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1775A>T	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195685	0.78902	.	.	ENSG00000162601	ENST00000472487	T	0.50548	0.74	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	L	0.47190	1.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.65175	-0.6232	10	0.87932	D	0	-14.57	14.2524	0.66028	0.0:0.0:0.0:1.0	.	592	Q5VVJ2	MYSM1_HUMAN	L	592	ENSP00000418734:H592L	ENSP00000418734:H592L	H	-	2	0	MYSM1	58906174	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.344000	0.79328	2.147000	0.66899	0.528000	0.53228	CAT		PASS	0.343	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		43	128	43	128	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66062217	66062217	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:66062217C>T	ENST00000349533.6	+	7	975	c.790C>T	c.(790-792)Cca>Tca	p.P264S	LEPR_ENST00000371059.3_Missense_Mutation_p.P264S|LEPR_ENST00000371060.3_Missense_Mutation_p.P264S|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.P264S|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.P264S	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.P264S(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACCATTGGTACCATTTCCACT	0.333																																						uc001dci.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(790-792)CCA>TCA		leptin receptor isoform 1							67.0	68.0	68.0					1																	66062217		2201	4298	6499	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66062217C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.790C>T	1.37:g.66062217C>T	ENSP00000330393:p.Pro264Ser					LEPR_uc001dcg.2_Missense_Mutation_p.P264S|LEPR_uc001dch.2_Missense_Mutation_p.P264S|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.P264S|LEPR_uc001dck.2_Missense_Mutation_p.P264S	p.P264S	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	7	992	+			264			Extracellular (Potential).|Fibronectin type-III 1.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.790C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	9.900	1.206534	0.22205	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.51	4.59	0.56863	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.394568	0.30219	N	0.010132	T	0.35566	0.0936	M	0.65320	2	0.36180	D	0.849386	B;B;B	0.26400	0.148;0.051;0.05	B;B;B	0.34991	0.193;0.102;0.076	T	0.29941	-0.9995	10	0.33940	T	0.23	-4.9201	9.3508	0.38138	0.0:0.6521:0.2754:0.0725	.	264;264;264	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	S	264	ENSP00000340884:P264S;ENSP00000330393:P264S;ENSP00000360099:P264S;ENSP00000360098:P264S;ENSP00000360097:P264S	ENSP00000340884:P264S	P	+	1	0	LEPR	65834805	0.004000	0.15560	0.827000	0.32855	0.403000	0.30841	0.905000	0.28504	1.332000	0.45431	-0.226000	0.12346	CCA		PASS	0.333	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		46	52	46	52	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835185	74835185	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:74835185G>T	ENST00000370899.3	+	18	1923	c.1886G>T	c.(1885-1887)tGc>tTc	p.C629F	TNNI3K_ENST00000326637.3_Missense_Mutation_p.C528F|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.C629F|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.C642F|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.C629F	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.C528F(1)									GTGGGTGCTTGCTTGAATGAT	0.468																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1582-1584)TGC>TTC		TNNI3 interacting kinase isoform b							252.0	220.0	231.0					1																	74835185		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74835185G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1886G>T	1.37:g.74835185G>T	ENSP00000359936:p.Cys629Phe					TNNI3K_uc001dgc.1_Missense_Mutation_p.C629F|TNNI3K_uc001dgd.2_Missense_Mutation_p.C629F|TNNI3K_uc001dge.1_Missense_Mutation_p.C629F	p.C528F	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			16	1634	+			528			Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.1583G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398236|4.398236	0.83120|0.83120	.|.	.|.	ENSG00000116783|ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000526236;ENST00000525480|ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	.|D;D;D;D;D;D	.|0.84442	.|-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89501|0.89501	0.6733|0.6733	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.994	.|D;D;D;P	.|0.72338	.|0.977;0.961;0.961;0.808	D|D	0.90471|0.90471	0.4453|0.4453	5|10	.|0.87932	.|D	.|0	.|.	18.8831|18.8831	0.92364|0.92364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|528;629;629;629	.|Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	.|TNI3K_HUMAN;.;.;.	S|F	75;48|629;629;629;629;528;52	.|ENSP00000359936:C629F;ENSP00000359932:C629F;ENSP00000450895:C629F;ENSP00000359928:C629F;ENSP00000322251:C528F;ENSP00000434975:C52F	.|ENSP00000322251:C528F	A|C	+|+	1|2	0|0	AC093158.1|RP11-653A5.2;AC093158.1	74607773|74607773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.488000|7.488000	0.81441|0.81441	2.449000|2.449000	0.82847|0.82847	0.561000|0.561000	0.74099|0.74099	GCT|TGC		PASS	0.468	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			177	206	177	206	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74836041	74836041	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:74836041C>G	ENST00000370899.3	+	19	2077	c.2040C>G	c.(2038-2040)aaC>aaG	p.N680K	TNNI3K_ENST00000326637.3_Missense_Mutation_p.N579K|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.N680K|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.N693K|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.N680K	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.N579K(1)									ACCTTCACAACCTGACACAGC	0.343																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1735-1737)AAC>AAG		TNNI3 interacting kinase isoform b							108.0	105.0	106.0					1																	74836041		2203	4299	6502	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74836041C>G			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2040C>G	1.37:g.74836041C>G	ENSP00000359936:p.Asn680Lys					TNNI3K_uc001dgc.1_Missense_Mutation_p.N680K|TNNI3K_uc001dgd.2_Missense_Mutation_p.N680K|TNNI3K_uc001dge.1_Missense_Mutation_p.N680K	p.N579K	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			17	1788	+			579			Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.1737C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.961129|2.961129	0.53400|0.53400	.|.	.|.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783|ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020|ENST00000526236;ENST00000525480	T;T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38;1.38|.	5.76|5.76	4.85|4.85	0.62838|0.62838	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.044956|.	0.85682|.	D|.	0.000000|.	T|T	0.24547|0.24547	0.0595|0.0595	N|N	0.12471|0.12471	0.22|0.22	0.40340|0.40340	D|D	0.979023|0.979023	B;B;P;P|.	0.36837|.	0.09;0.417;0.571;0.557|.	B;B;B;B|.	0.31101|.	0.055;0.085;0.121;0.124|.	T|T	0.06144|0.06144	-1.0843|-1.0843	10|5	0.52906|.	T|.	0.07|.	.|.	11.0086|11.0086	0.47649|0.47649	0.0:0.8333:0.0:0.1667|0.0:0.8333:0.0:0.1667	.|.	579;680;680;680|.	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3|.	TNI3K_HUMAN;.;.;.|.	K|S	680;680;680;680;579;103|126;99	ENSP00000359936:N680K;ENSP00000359932:N680K;ENSP00000450895:N680K;ENSP00000359928:N680K;ENSP00000322251:N579K;ENSP00000434975:N103K|.	ENSP00000322251:N579K|.	N|T	+|+	3|2	2|0	RP11-653A5.2;AC093158.1|AC093158.1	74608629|74608629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.676000|0.676000	0.25247|0.25247	2.724000|2.724000	0.93272|0.93272	0.650000|0.650000	0.86243|0.86243	AAC|ACC		PASS	0.343	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			72	97	72	97	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74929212	74929212	+	Missense_Mutation	SNP	G	G	T	rs202055411		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:74929212G>T	ENST00000370899.3	+	23	2439	c.2402G>T	c.(2401-2403)cGa>cTa	p.R801L	TNNI3K_ENST00000326637.3_Missense_Mutation_p.R700L|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R814L|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R801L	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.R700L(1)									CTGCTGATACGAGGGTGGAAC	0.438																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2098-2100)CGA>CTA		TNNI3 interacting kinase isoform b							150.0	135.0	140.0					1																	74929212		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74929212G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2402G>T	1.37:g.74929212G>T	ENSP00000359936:p.Arg801Leu					TNNI3K_uc001dgd.2_Missense_Mutation_p.R801L|TNNI3K_uc001dge.1_Missense_Mutation_p.R801L	p.R700L	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			21	2150	+			700			Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.2099G>T		.	.	.	.	.	.	.	.	.	.	G	16.72	3.201205	0.58234	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.62	3.7	0.42460	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059575	0.64402	D	0.000005	T	0.65606	0.2707	L	0.37800	1.135	0.48040	D	0.999574	P;P;P	0.44877	0.845;0.813;0.813	B;B;B	0.41619	0.361;0.246;0.246	T	0.67352	-0.5692	10	0.52906	T	0.07	.	11.0631	0.47959	0.1567:0.0:0.8433:0.0	.	700;801;801	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	L	801;801;801;700	ENSP00000359936:R801L;ENSP00000450895:R801L;ENSP00000359928:R801L;ENSP00000322251:R700L	ENSP00000322251:R700L	R	+	2	0	RP11-653A5.2;AC093158.1	74701800	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.080000	0.64437	0.677000	0.31305	0.655000	0.94253	CGA		PASS	0.438	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			98	245	98	245	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78207376	78207376	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:78207376C>T	ENST00000370793.1	-	3	446	c.100G>A	c.(100-102)Gct>Act	p.A34T	USP33_ENST00000370794.3_Missense_Mutation_p.A3T|USP33_ENST00000370792.3_Missense_Mutation_p.A34T|USP33_ENST00000528150.1_5'UTR|USP33_ENST00000357428.1_Missense_Mutation_p.A34T	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	34					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A34T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTTCGAAAAGCTGACATTTTG	0.303																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(100-102)GCT>ACT		ubiquitin specific protease 33 isoform 1							41.0	43.0	42.0					1																	78207376		2203	4288	6491	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78207376C>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.100G>A	1.37:g.78207376C>T	ENSP00000359829:p.Ala34Thr					USP33_uc001dhu.2_Missense_Mutation_p.A3T|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.A34T	p.A34T	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			3	447	-			34					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.100G>A	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684242	0.14907	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536;ENST00000530709;ENST00000524778	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.61	-4.34	0.03666	.	0.789365	0.12112	N	0.498463	T	0.03608	0.0103	N	0.08118	0	0.23537	N	0.99747	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.003	T	0.33523	-0.9865	10	0.08381	T	0.77	.	1.1837	0.01850	0.3895:0.2187:0.0905:0.3013	.	34;34	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	T	3;34;34;34;34;34;3	ENSP00000359830:A3T;ENSP00000359829:A34T;ENSP00000350009:A34T;ENSP00000359828:A34T;ENSP00000434441:A34T;ENSP00000433283:A34T;ENSP00000436441:A3T	ENSP00000350009:A34T	A	-	1	0	USP33	77979964	0.090000	0.21635	0.800000	0.32199	0.668000	0.39293	-0.522000	0.06237	-1.047000	0.03242	-0.259000	0.10710	GCT		PASS	0.303	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		11	42	11	42	---	---	---	---
CCBL2	56267	broad.mit.edu	37	1	89418830	89418830	+	Silent	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:89418830G>C	ENST00000260508.4	-	10	1207	c.870C>G	c.(868-870)ggC>ggG	p.G290G	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Silent_p.G256G|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	290					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.G256G(1)|p.G290G(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CAATGGACCAGCCAAGCTGGG	0.308																																						uc001dmp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(868-870)GGC>GGG		kynurenine aminotransferase III isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						84.0	84.0	84.0					1																	89418830		2203	4300	6503	SO:0001819	synonymous_variant	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89418830G>C	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.870C>G	1.37:g.89418830G>C						CCBL2_uc001dmq.2_Silent_p.G256G|CCBL2_uc001dmr.2_Silent_p.G126G	p.G290G	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	10	1247	-		Lung NSC(277;0.123)	290					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Silent	SNP	ENST00000260508.4	37	c.870C>G	CCDS30766.1																																																																																				PASS	0.308	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		47	27	47	27	---	---	---	---
BARHL2	343472	broad.mit.edu	37	1	91182202	91182202	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:91182202G>T	ENST00000370445.4	-	1	592	c.551C>A	c.(550-552)cCa>cAa	p.P184Q		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	184					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.P184Q(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCGAGCTTTGGCCTGAAGCT	0.617																																					GBM(199;3561 4100 22440)	uc001dns.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)CCA>CAA		BarH-like homeobox 2							74.0	62.0	66.0					1																	91182202		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91182202G>T	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.551C>A	1.37:g.91182202G>T	ENSP00000359474:p.Pro184Gln						p.P184Q	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	593	-		all_lung(203;0.0263)|Lung SC(238;0.128)	184					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.551C>A	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980531	0.74474	.	.	ENSG00000143032	ENST00000370445	D	0.92048	-2.96	5.71	5.71	0.89125	.	0.100779	0.64402	D	0.000001	D	0.89280	0.6670	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89229	0.3576	10	0.27082	T	0.32	.	18.4286	0.90617	0.0:0.0:1.0:0.0	.	184	Q9NY43	BARH2_HUMAN	Q	184	ENSP00000359474:P184Q	ENSP00000359474:P184Q	P	-	2	0	BARHL2	90954790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.047000	0.71038	2.688000	0.91661	0.655000	0.94253	CCA		PASS	0.617	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			14	49	14	49	---	---	---	---
GSTM5	2949	broad.mit.edu	37	1	110260013	110260013	+	Silent	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:110260013T>C	ENST00000256593.3	+	8	680	c.622T>C	c.(622-624)Ttg>Ctg	p.L208L	GSTM5_ENST00000369812.5_Silent_p.L227L|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369813.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	208					glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)	p.L208L(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCGAGGTCTTTTGTTTGGAAA	0.552																																						uc001dyn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)	6						c.(622-624)TTG>CTG		glutathione S-transferase mu 5	Glutathione(DB00143)						107.0	98.0	101.0					1																	110260013		2203	4300	6503	SO:0001819	synonymous_variant	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110260013T>C	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.622T>C	1.37:g.110260013T>C						GSTM5_uc010ovu.1_3'UTR	p.L208L	NM_000851	NP_000842	P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	8	693	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	208					A8K0V8|Q6PD78	Silent	SNP	ENST00000256593.3	37	c.622T>C	CCDS811.1																																																																																				PASS	0.552	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		119	108	119	108	---	---	---	---
RHOC	389	broad.mit.edu	37	1	113245681	113245681	+	Missense_Mutation	SNP	A	A	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:113245681A>C	ENST00000285735.2	-	4	1426	c.217T>G	c.(217-219)Tcc>Gcc	p.S73A	RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369637.1_Missense_Mutation_p.S73A|RHOC_ENST00000369632.2_Missense_Mutation_p.S73A|RHOC_ENST00000369636.2_Missense_Mutation_p.S73A|RHOC_ENST00000339083.7_Missense_Mutation_p.S73A|RHOC_ENST00000369638.2_Missense_Mutation_p.S73A|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.L236R|RHOC_ENST00000369642.3_Missense_Mutation_p.S73A|RHOC_ENST00000369633.2_Missense_Mutation_p.S73A			P08134	RHOC_HUMAN	ras homolog family member C	73					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)	p.S73A(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCGGGTAGGAGAGAGGCCGC	0.612																																						uc001ecp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(217-219)TCC>GCC		ras homolog gene family, member C precursor							102.0	94.0	97.0					1																	113245681		2203	4300	6503	SO:0001583	missense	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113245681A>C	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"""ras homolog gene family, member C"""	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.217T>G	1.37:g.113245681A>C	ENSP00000285735:p.Ser73Ala					RHOC_uc001ecq.1_Missense_Mutation_p.S73A|RHOC_uc001ecr.1_Missense_Mutation_p.S73A|RHOC_uc009wgk.1_Missense_Mutation_p.S73A	p.S73A	NM_001042679	NP_001036144	P08134	RHOC_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	517	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	73					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.217T>G	CCDS854.1	.	.	.	.	.	.	.	.	.	.	A	34	5.293702	0.95546	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369636;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717;ENST00000436685;ENST00000414971	T;T;T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.46758	D	0.000273	T	0.72112	0.3420	L	0.55017	1.72	0.80722	D	1	B	0.28178	0.202	P	0.52554	0.702	T	0.76310	-0.3006	10	0.87932	D	0	-6.9698	15.0919	0.72201	1.0:0.0:0.0:0.0	.	73	P08134	RHOC_HUMAN	A	73;73;73;73;73;73;73;73;110;73;73;73;73	ENSP00000345236:S73A;ENSP00000358647:S73A;ENSP00000358656:S73A;ENSP00000285735:S73A;ENSP00000358652:S73A;ENSP00000358651:S73A;ENSP00000358650:S73A;ENSP00000358646:S73A;ENSP00000434877:S110A;ENSP00000390823:S73A;ENSP00000436240:S73A;ENSP00000399424:S73A;ENSP00000395791:S73A	ENSP00000285735:S73A	S	-	1	0	RHOC	113047204	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.046000	0.71029	2.052000	0.61016	0.459000	0.35465	TCC		PASS	0.612	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		50	184	50	184	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158617400	158617400	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:158617400C>T	ENST00000368147.4	-	27	4005	c.3825G>A	c.(3823-3825)caG>caA	p.Q1275Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1275					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q1275Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGTACGCCCCTGCAGGTCTT	0.557																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3823-3825)CAG>CAA		spectrin, alpha, erythrocytic 1							109.0	111.0	110.0					1																	158617400		1975	4145	6120	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158617400C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3825G>A	1.37:g.158617400C>T							p.Q1275Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			27	4024	-	all_hematologic(112;0.0378)		1275			Spectrin 12.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3825G>A	CCDS41423.1																																																																																				PASS	0.557	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		78	197	78	197	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687140	158687140	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:158687140G>C	ENST00000368146.1	-	1	813	c.814C>G	c.(814-816)Ctc>Gtc	p.L272V	OR6K3_ENST00000368145.1_Missense_Mutation_p.L256V			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L272I(1)|p.L272V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAGTACATGAGTGATACACTG	0.448																																						uc010pip.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(814-816)CTC>GTC		olfactory receptor, family 6, subfamily K,							146.0	125.0	132.0					1																	158687140		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687140G>C	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.814C>G	1.37:g.158687140G>C	ENSP00000357128:p.Leu272Val						p.L272V	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	814	-	all_hematologic(112;0.0378)		272			Helical; Name=6; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.814C>G		.	.	.	.	.	.	.	.	.	.	G	0.237	-1.016555	0.02078	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00099	8.73;8.73	3.77	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.16266	0.395	0.25257	N	0.989623	B	0.29531	0.247	B	0.33960	0.173	T	0.02208	-1.1195	9	0.07644	T	0.81	.	6.6522	0.22969	0.3136:0.0:0.6864:0.0	.	272	Q8NGY3	OR6K3_HUMAN	V	256;272	ENSP00000357127:L256V;ENSP00000357128:L272V	ENSP00000357127:L256V	L	-	1	0	OR6K3	156953764	0.001000	0.12720	0.375000	0.26029	0.106000	0.19336	0.497000	0.22514	0.370000	0.24538	0.467000	0.42956	CTC		PASS	0.448	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				47	167	47	167	---	---	---	---
OR6K6	128371	broad.mit.edu	37	1	158724916	158724916	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:158724916C>T	ENST00000368144.2	+	1	407	c.311C>T	c.(310-312)aCc>aTc	p.T104I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T104I(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATACCACAACCACCATCCCC	0.493																																						uc001fsw.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(310-312)ACC>ATC		olfactory receptor, family 6, subfamily K,							132.0	131.0	131.0					1																	158724916		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724916C>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.311C>T	1.37:g.158724916C>T	ENSP00000357126:p.Thr104Ile						p.T104I	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	311	+	all_hematologic(112;0.0378)		104			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.311C>T	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764185	0.49574	.	.	ENSG00000180433	ENST00000368144	T	0.00350	7.98	5.48	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.169796	0.28036	N	0.016850	T	0.00073	0.0002	L	0.37697	1.125	0.33935	D	0.642564	P	0.37548	0.599	B	0.31614	0.133	T	0.56842	-0.7912	10	0.45353	T	0.12	-14.3713	8.7817	0.34795	0.0:0.767:0.1533:0.0797	.	104	Q8NGW6	OR6K6_HUMAN	I	104	ENSP00000357126:T104I	ENSP00000357126:T104I	T	+	2	0	OR6K6	156991540	0.000000	0.05858	0.998000	0.56505	0.987000	0.75469	1.031000	0.30165	1.498000	0.48600	0.655000	0.94253	ACC		PASS	0.493	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		83	324	83	324	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179609107	179609107	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:179609107G>C	ENST00000367614.1	+	10	2013	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	TDRD5_ENST00000444136.1_Missense_Mutation_p.E552Q|TDRD5_ENST00000294848.8_Missense_Mutation_p.E552Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	552	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.E552Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCGAGTCCTTGAGAAACAGGA	0.413																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1654-1656)GAG>CAG		tudor domain containing 5							212.0	202.0	205.0					1																	179609107		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179609107G>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1654G>C	1.37:g.179609107G>C	ENSP00000356586:p.Glu552Gln					TDRD5_uc010pnp.1_Missense_Mutation_p.E552Q|TDRD5_uc001gnh.1_Missense_Mutation_p.E107Q	p.E552Q	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			10	1904	+			552			Tudor.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1654G>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323867	0.41096	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.47	4.56	0.56223	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.374555	0.29066	N	0.013248	T	0.06826	0.0174	N	0.11201	0.11	0.20074	N	0.999933	B;B	0.18863	0.031;0.003	B;B	0.24541	0.054;0.002	T	0.27706	-1.0066	10	0.28530	T	0.3	-7.6961	6.3237	0.21232	0.235:0.0:0.765:0.0	.	552;552	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Q	552;552;552;8	ENSP00000356586:E552Q;ENSP00000294848:E552Q;ENSP00000406052:E552Q;ENSP00000410744:E8Q	ENSP00000294848:E552Q	E	+	1	0	TDRD5	177875730	0.890000	0.30428	0.758000	0.31321	0.981000	0.71138	3.220000	0.51207	2.567000	0.86603	0.655000	0.94253	GAG		PASS	0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		274	317	274	317	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183525256	183525256	+	Silent	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:183525256G>C	ENST00000367535.3	-	15	1829	c.1578C>G	c.(1576-1578)gtC>gtG	p.V526V	NCF2_ENST00000418089.1_Silent_p.V445V|NCF2_ENST00000367536.1_Silent_p.V526V|NCF2_ENST00000413720.1_Silent_p.V481V	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	526					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.V526V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	AAACATCCTAGACTTCTCTCC	0.423																																						uc001gqj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1576-1578)GTC>GTG		neutrophil cytosolic factor 2							92.0	91.0	91.0					1																	183525256		2203	4300	6503	SO:0001819	synonymous_variant	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183525256G>C	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1578C>G	1.37:g.183525256G>C						NCF2_uc010pod.1_Silent_p.V481V|NCF2_uc010poe.1_Silent_p.V445V|NCF2_uc001gqk.3_Silent_p.V526V	p.V526V	NM_000433	NP_000424	P19878	NCF2_HUMAN			15	1853	-			526					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	ENST00000367535.3	37	c.1578C>G	CCDS1356.1																																																																																				PASS	0.423	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		34	119	34	119	---	---	---	---
CFHR3	10878	broad.mit.edu	37	1	196757463	196757463	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:196757463A>G	ENST00000367425.4	+	4	640	c.548A>G	c.(547-549)gAt>gGt	p.D183G	CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000471440.2_Missense_Mutation_p.D183G	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	183	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D183G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GCAACAGCAGATGGAAATTCT	0.303																																						uc001gtl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(547-549)GAT>GGT		complement factor H-related 3 precursor							75.0	94.0	88.0					1																	196757463		1996	4171	6167	SO:0001583	missense	10878					extracellular space		g.chr1:196757463A>G	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.548A>G	1.37:g.196757463A>G	ENSP00000356395:p.Asp183Gly					CFHR3_uc001gtk.2_Missense_Mutation_p.D183G|CFHR3_uc010poy.1_Intron|CFHR1_uc001gtm.2_Intron	p.D183G	NM_021023	NP_066303	Q02985	FHR3_HUMAN			4	635	+			183			Sushi 3.		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.548A>G	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	A	7.609	0.674303	0.14841	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000542253	T;T	0.65178	-0.14;-0.14	2.94	0.249	0.15531	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.59224	0.2178	L	0.38838	1.175	0.09310	N	1	B;D	0.56746	0.198;0.977	B;D	0.64237	0.143;0.923	T	0.49513	-0.8932	9	0.15066	T	0.55	.	3.4853	0.07617	0.6306:0.2297:0.1397:0.0	.	183;183	Q02985;Q6NSD3	FHR3_HUMAN;.	G	183	ENSP00000356395:D183G;ENSP00000436258:D183G	ENSP00000356395:D183G	D	+	2	0	CFHR3	195024086	0.710000	0.27896	0.004000	0.12327	0.011000	0.07611	0.719000	0.25881	-0.203000	0.10251	-0.566000	0.04163	GAT		PASS	0.303	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		78	276	78	276	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207646142	207646142	+	Silent	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:207646142T>A	ENST00000367058.3	+	10	1785	c.1596T>A	c.(1594-1596)gtT>gtA	p.V532V	CR2_ENST00000367057.3_Silent_p.V532V|CR2_ENST00000458541.2_Missense_Mutation_p.Y507N|CR2_ENST00000367059.3_Silent_p.V532V	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	532	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.V532V(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACCCCCTGTTATCTACAATG	0.448																																						uc001hfw.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1594-1596)GTT>GTA		complement component (3d/Epstein Barr virus)							76.0	78.0	78.0					1																	207646142		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207646142T>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1596T>A	1.37:g.207646142T>A						CR2_uc001hfv.2_Silent_p.V532V|CR2_uc009xch.2_Silent_p.V532V|CR2_uc009xci.1_Silent_p.V17V	p.V532V	NM_001877	NP_001868	P20023	CR2_HUMAN			10	1690	+			532			Sushi 9.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.1596T>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	7.680	0.688901	0.14973	.	.	ENSG00000117322	ENST00000458541	T	0.29917	1.55	5.75	-5.1	0.02911	.	.	.	.	.	T	0.10723	0.0262	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33650	-0.9860	6	0.12430	T	0.62	.	2.976	0.05937	0.1237:0.3956:0.2542:0.2265	.	.	.	.	N	507	ENSP00000404222:Y507N	ENSP00000404222:Y507N	Y	+	1	0	CR2	205712765	0.000000	0.05858	0.011000	0.14972	0.541000	0.35023	-0.864000	0.04254	-0.339000	0.08401	-0.256000	0.11100	TAT		PASS	0.448	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		64	84	64	84	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216373338	216373338	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:216373338G>T	ENST00000307340.3	-	17	3828	c.3442C>A	c.(3442-3444)Cca>Aca	p.P1148T	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.P1148T|USH2A_ENST00000366942.3_Missense_Mutation_p.P1148T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1148	Fibronectin type-III 2. {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.P1148T(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)		TTTCCCTCTGGGACCCCTGGT	0.418										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.(3442-3444)CCA>ACA		usherin isoform B							98.0	97.0	97.0					1																	216373338		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216373338G>T	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.3442C>A	1.37:g.216373338G>T	ENSP00000305941:p.Pro1148Thr	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.P1148T	p.P1148T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	3829	-			1148			Extracellular (Potential).|Fibronectin type-III 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3442C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048897	0.75846	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.95821	-3.82;-0.02;-0.02	5.75	4.83	0.62350	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.160141	0.29260	N	0.012669	D	0.96972	0.9011	M	0.73962	2.25	0.51012	D	0.9999	D;D	0.64830	0.994;0.987	P;P	0.62382	0.901;0.842	D	0.97192	0.9858	10	0.72032	D	0.01	.	13.8825	0.63689	0.0738:0.0:0.9261:0.0	.	1148;1148	O75445-2;O75445	.;USH2A_HUMAN	T	1148	ENSP00000305941:P1148T;ENSP00000355910:P1148T;ENSP00000355909:P1148T	ENSP00000305941:P1148T	P	-	1	0	USH2A	214439961	1.000000	0.71417	0.786000	0.31890	0.946000	0.59487	6.144000	0.71762	1.406000	0.46857	0.655000	0.94253	CCA		PASS	0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		132	221	132	221	---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217793767	217793767	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:217793767C>T	ENST00000366935.3	-	2	241	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R44Q	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	44					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.R44Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AAATCCACCTCGAGCTTGCTC	0.453																																						uc001hlf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(130-132)CGA>CAA		G patch domain containing 2							97.0	94.0	95.0					1																	217793767		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217793767C>T	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.131G>A	1.37:g.217793767C>T	ENSP00000355902:p.Arg44Gln					GPATCH2_uc001hlg.3_Missense_Mutation_p.R44Q	p.R44Q	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	2	227	-			44					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.131G>A	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441227	0.96187	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.51325	1.32;0.71	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	M	0.64997	1.995	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.68066	-0.5507	10	0.62326	D	0.03	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	44;44	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	Q	44	ENSP00000355902:R44Q;ENSP00000355901:R44Q	ENSP00000355901:R44Q	R	-	2	0	GPATCH2	215860390	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.621000	0.67743	2.807000	0.96579	0.591000	0.81541	CGA		PASS	0.453	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		137	227	137	227	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223177328	223177328	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:223177328G>T	ENST00000284476.6	+	8	2753	c.2589G>T	c.(2587-2589)caG>caT	p.Q863H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	863					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.Q863H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGGAAAACCAGGACTGTGATG	0.463																																						uc001hnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2587-2589)CAG>CAT		dispatched A							61.0	65.0	63.0					1																	223177328		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223177328G>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2589G>T	1.37:g.223177328G>T	ENSP00000284476:p.Gln863His						p.Q863H	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2736	+			863					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.2589G>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308931	0.40895	.	.	ENSG00000154309	ENST00000284476	D	0.92299	-3.01	5.17	4.26	0.50523	.	0.050681	0.85682	D	0.000000	D	0.83820	0.5337	N	0.19112	0.55	0.53005	D	0.999966	B	0.26445	0.149	B	0.20955	0.032	T	0.79825	-0.1640	10	0.42905	T	0.14	-22.4412	9.3219	0.37968	0.2254:0.0:0.7746:0.0	.	863	Q96F81	DISP1_HUMAN	H	863	ENSP00000284476:Q863H	ENSP00000284476:Q863H	Q	+	3	2	DISP1	221243951	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.837000	0.39201	1.315000	0.45114	0.655000	0.94253	CAG		PASS	0.463	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		79	125	79	125	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236189372	236189372	+	Missense_Mutation	SNP	C	C	T	rs568556688		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:236189372C>T	ENST00000264187.6	-	8	1890	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	NID1_ENST00000366595.3_Missense_Mutation_p.R603H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	603	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R603H(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGTGTAGATGCGTGAAGGAGA	0.622																																						uc001hxo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(1807-1809)CGC>CAC		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						115.0	106.0	109.0					1																	236189372		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236189372C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1808G>A	1.37:g.236189372C>T	ENSP00000264187:p.Arg603His					NID1_uc009xgd.2_Missense_Mutation_p.R603H	p.R603H	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		8	1910	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	603			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1808G>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	2.735	-0.263464	0.05754	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.28666	1.6;1.6	5.02	-4.89	0.03103	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	1.020520	0.07738	N	0.946468	T	0.18130	0.0435	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.0;0.005	T	0.31613	-0.9937	10	0.36615	T	0.2	.	9.1581	0.37005	0.0:0.3013:0.0965:0.6022	.	603;603	P14543-2;P14543	.;NID1_HUMAN	H	603	ENSP00000264187:R603H;ENSP00000355554:R603H	ENSP00000264187:R603H	R	-	2	0	NID1	234255995	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	0.846000	0.27682	-0.811000	0.04369	-0.749000	0.03505	CGC		PASS	0.622	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		111	184	111	184	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947185	237947185	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:237947185A>T	ENST00000366574.2	+	90	12490	c.12173A>T	c.(12172-12174)tAc>tTc	p.Y4058F	RYR2_ENST00000542537.1_Missense_Mutation_p.Y4042F|RYR2_ENST00000360064.6_Missense_Mutation_p.Y4064F|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4058					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.Y4056F(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)			CATAAGCACTACACGCAGTCA	0.478																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12172-12174)TAC>TTC		cardiac muscle ryanodine receptor							41.0	41.0	41.0					1																	237947185		1986	4159	6145	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947185A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12173A>T	1.37:g.237947185A>T	ENSP00000355533:p.Tyr4058Phe					RYR2_uc010pya.1_Missense_Mutation_p.Y473F	p.Y4058F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12293	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4058			EF-hand.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12173A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025784	0.54683	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.81739	-1.53;-1.53;-1.53	5.85	5.85	0.93711	EF-hand-like domain (1);	0.000000	0.64402	D	0.000016	D	0.85212	0.5645	L	0.38175	1.15	0.80722	D	1	D;B	0.76494	0.999;0.188	D;B	0.83275	0.996;0.109	D	0.84944	0.0867	10	0.41790	T	0.15	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	1032;4058	B4DGV4;Q92736	.;RYR2_HUMAN	F	4058;4064;4042;1032	ENSP00000355533:Y4058F;ENSP00000353174:Y4064F;ENSP00000443798:Y4042F	ENSP00000353174:Y4064F	Y	+	2	0	RYR2	236013808	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.287000	0.95975	2.233000	0.73108	0.533000	0.62120	TAC		PASS	0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		26	43	26	43	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947838	237947838	+	Missense_Mutation	SNP	G	G	T	rs368599791		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:237947838G>T	ENST00000366574.2	+	90	13143	c.12826G>T	c.(12826-12828)Gtg>Ttg	p.V4276L	RYR2_ENST00000542537.1_Missense_Mutation_p.V4260L|RYR2_ENST00000360064.6_Missense_Mutation_p.V4282L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4276					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.V4274L(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)			AAAGATGACCGTGAAGGACAT	0.468																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12826-12828)GTG>TTG		cardiac muscle ryanodine receptor							67.0	67.0	67.0					1																	237947838		1878	4124	6002	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947838G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12826G>T	1.37:g.237947838G>T	ENSP00000355533:p.Val4276Leu					RYR2_uc010pya.1_Missense_Mutation_p.V691L	p.V4276L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12946	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4276					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12826G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	5.455	0.269114	0.10349	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96427	-4.01;-3.98;-4.01	5.11	-6.59	0.01830	.	0.693333	0.12852	N	0.433874	D	0.91068	0.7189	L	0.39245	1.2	0.52501	D	0.999957	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.68081	-0.5503	10	0.16420	T	0.52	.	13.0341	0.58860	0.7322:0.0:0.1755:0.0923	.	1250;4276	B4DGV4;Q92736	.;RYR2_HUMAN	L	4276;4282;4260;1250	ENSP00000355533:V4276L;ENSP00000353174:V4282L;ENSP00000443798:V4260L	ENSP00000353174:V4282L	V	+	1	0	RYR2	236014461	0.000000	0.05858	0.001000	0.08648	0.685000	0.39939	-0.114000	0.10757	-1.482000	0.01860	-0.794000	0.03295	GTG		PASS	0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		44	80	44	80	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370901	240370901	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:240370901G>T	ENST00000319653.9	+	5	3019	c.2789G>T	c.(2788-2790)gGc>gTc	p.G930V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	930	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1073V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCGGAGCAGGCATACTCCCT	0.697																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2788-2790)GGC>GTC		formin 2							41.0	47.0	45.0					1																	240370901		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370901G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2789G>T	1.37:g.240370901G>T	ENSP00000318884:p.Gly930Val					FMN2_uc010pye.1_Missense_Mutation_p.G934V	p.G930V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3014	+	Ovarian(103;0.127)	all_cancers(173;0.013)	930			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2789G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	3.736	-0.054575	0.07362	.	.	ENSG00000155816	ENST00000319653	T	0.55234	0.53	2.84	0.856	0.19019	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.434837	0.19567	N	0.111186	T	0.48150	0.1484	M	0.61703	1.905	0.19300	N	0.999977	P	0.39665	0.682	P	0.44897	0.463	T	0.37103	-0.9720	9	.	.	.	.	3.3844	0.07266	0.2713:0.2179:0.5108:0.0	.	930	Q9NZ56	FMN2_HUMAN	V	930	ENSP00000318884:G930V	.	G	+	2	0	FMN2	238437524	.	.	0.001000	0.08648	0.001000	0.01503	.	.	0.095000	0.17434	-0.344000	0.07964	GGC		PASS	0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		86	131	86	131	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	241146429	241146430	+	Splice_Site	DNP	CC	CC	AT			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:241146429_241146430CC>AT	ENST00000407727.1	-	3	175	c.176_176GG>AT	c.(175-177)gGGg>gATgg	p.G59D	RGS7_ENST00000366565.1_Splice_Site_p.G59D|RGS7_ENST00000348120.2_Splice_Site_p.G59D|RGS7_ENST00000366563.1_Splice_Site_p.G59D|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000331110.7_Splice_Site_p.G33D|RGS7_ENST00000366562.4_Splice_Site_p.G59D|RGS7_ENST00000366564.1_Splice_Site_p.G59D|RGS7_ENST00000401882.1_Splice_Site_p.G59D			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	59	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.?(4)|p.G59V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATGTCTGAACCTAGAAAAAGA	0.292																																						uc001hyv.2																			6	Unknown(4)|Substitution - Missense(2)		lung(6)	ovary(4)|skin(2)|kidney(1)	7						c.(175-177)GGT>GTT|c.e4-1		regulator of G-protein signaling 7																																				SO:0001630	splice_region_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241146429C>A|g.chr1:241146430C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.176_176delinsAT	1.37:g.241146429_241146430delinsAT						RGS7_uc010pyh.1_Missense_Mutation_p.G33V|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.G59V|RGS7_uc009xgn.1_Missense_Mutation_p.G59V|RGS7_uc001hyw.2_Missense_Mutation_p.G59V|RGS7_uc010pyh.1_Splice_Site_p.G33_splice|RGS7_uc010pyj.1_Splice_Site|RGS7_uc001hyu.2_Splice_Site_p.G59_splice|RGS7_uc009xgn.1_Splice_Site_p.G59_splice|RGS7_uc001hyw.2_Splice_Site_p.G59_splice	p.G59V|p.G59_splice	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		4	506	-		all_cancers(173;0.0131)	59|			DEP.|		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation|Splice_Site	SNP	ENST00000407727.1	37	c.176G>T|c.176_splice																																																																																					PASS	0.292	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	Missense_Mutation	16	19|17	16	17	---	---	---	---
FH	2271	broad.mit.edu	37	1	241663881	241663881	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:241663881C>G	ENST00000366560.3	-	9	1284	c.1246G>C	c.(1246-1248)Gtg>Ctg	p.V416L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	416					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)	p.V416L(1)|p.V416M(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GAGTGTAACACATTTTTAATC	0.423			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.2			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			2	Substitution - Missense(2)	p.V416M(1)	lung(2)	lung(3)|ovary(1)|skin(1)	5						c.(1246-1248)GTG>CTG		fumarate hydratase precursor							64.0	62.0	63.0					1																	241663881		2203	4300	6503	SO:0001583	missense	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241663881C>G	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1246G>C	1.37:g.241663881C>G	ENSP00000355518:p.Val416Leu						p.V416L	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	9	1278	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	416					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1246G>C	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540085	0.27563	.	.	ENSG00000091483	ENST00000366560	D	0.90844	-2.74	5.71	5.71	0.89125	L-Aspartase-like (1);	0.120226	0.56097	D	0.000028	D	0.83298	0.5224	L	0.38953	1.18	0.80722	D	1	P	0.50272	0.933	B	0.35971	0.215	T	0.82516	-0.0418	10	0.08837	T	0.75	-2.1797	17.3485	0.87316	0.0:1.0:0.0:0.0	.	416	P07954	FUMH_HUMAN	L	416	ENSP00000355518:V416L	ENSP00000355518:V416L	V	-	1	0	FH	239730504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.581000	0.60949	2.697000	0.92050	0.655000	0.94253	GTG		PASS	0.423	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		80	125	80	125	---	---	---	---
CHML	1122	broad.mit.edu	37	1	241798599	241798599	+	Missense_Mutation	SNP	T	T	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:241798599T>G	ENST00000366553.1	-	1	633	c.470A>C	c.(469-471)cAc>cCc	p.H157P	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	157					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.H157P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTCTGAGTGTGTTTTGCAGG	0.388																																						uc001hzd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(469-471)CAC>CCC		choroideremia-like Rab escort protein 2							171.0	172.0	171.0					1																	241798599		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798599T>G	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.470A>C	1.37:g.241798599T>G	ENSP00000355511:p.His157Pro					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.H157P	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	634	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	157					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.470A>C	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	T	0.129	-1.116025	0.01799	.	.	ENSG00000203668	ENST00000366553	T	0.61859	0.07	4.43	1.99	0.26369	.	0.761851	0.12266	U	0.484296	T	0.39911	0.1096	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22277	-1.0221	9	0.30854	T	0.27	-1.3129	6.4826	0.22071	0.0:0.2014:0.0:0.7986	.	157	P26374	RAE2_HUMAN	P	157	ENSP00000355511:H157P	ENSP00000355511:H157P	H	-	2	0	CHML	239865222	0.000000	0.05858	0.003000	0.11579	0.242000	0.25591	-0.002000	0.12924	0.292000	0.22492	0.528000	0.53228	CAC		PASS	0.388	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		101	513	101	513	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242045216	242045216	+	Splice_Site	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:242045216A>G	ENST00000366548.3	+	14	2702		c.e14-1		EXO1_ENST00000348581.5_Splice_Site|EXO1_ENST00000518483.1_Splice_Site	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1						DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.?(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGGGGACTCTAGGAATCTGAT	0.303								Editing and processing nucleases																														uc001hzh.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.e14-2	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							48.0	47.0	47.0					1																	242045216		2203	4295	6498	SO:0001630	splice_region_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242045216A>G	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2110-1A>G	1.37:g.242045216A>G						EXO1_uc001hzi.2_Splice_Site_p.E704_splice|EXO1_uc001hzj.2_Splice_Site_p.E704_splice|EXO1_uc009xgq.2_Splice_Site_p.E703_splice	p.E704_splice	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		14	2650	+	Ovarian(103;0.103)	all_cancers(173;0.0555)						O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Splice_Site	SNP	ENST00000366548.3	37	c.2110_splice	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	A	9.507	1.104757	0.20632	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	.	.	.	4.77	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9496	0.24538	0.8979:0.0:0.1021:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EXO1	240111839	1.000000	0.71417	0.975000	0.42487	0.321000	0.28281	2.841000	0.48223	0.973000	0.38340	0.533000	0.62120	.		PASS	0.303	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	Intron	45	63	45	63	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247599422	247599422	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:247599422G>C	ENST00000336119.3	+	6	3395	c.2649G>C	c.(2647-2649)caG>caC	p.Q883H	NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q883H|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q826H|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000366497.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	883					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.Q883H(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAATCCACAGTGTAACCTGC	0.448																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2647-2649)CAG>CAC		NLR family, pyrin domain containing 3 isoform a							88.0	83.0	85.0					1																	247599422		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247599422G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2649G>C	1.37:g.247599422G>C	ENSP00000337383:p.Gln883His					NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Missense_Mutation_p.Q883H|NLRP3_uc001icw.2_Missense_Mutation_p.Q826H|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.Q861H	p.Q883H	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		8	2787	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	883					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2649G>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	a	4.199	0.035634	0.08148	.	.	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	T;T;T	0.48836	0.8;0.8;0.8	3.63	-7.26	0.01466	.	1.159310	0.06723	N	0.775256	T	0.23133	0.0559	N	0.05534	-0.03	0.09310	N	0.999998	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.33445	-0.9868	10	0.20519	T	0.43	.	10.372	0.44060	0.1443:0.3931:0.4626:0.0	.	863;826;883	B7ZKS9;Q96P20-4;Q96P20	.;.;NALP3_HUMAN	H	883;883;826	ENSP00000375704:Q883H;ENSP00000337383:Q883H;ENSP00000375703:Q826H	ENSP00000337383:Q883H	Q	+	3	2	NLRP3	245666045	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-1.210000	0.02999	-3.387000	0.00174	-3.488000	0.00034	CAG		PASS	0.448	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		57	87	57	87	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248366559	248366559	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:248366559A>T	ENST00000456743.1	+	1	228	c.190A>T	c.(190-192)Agc>Tgc	p.S64C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S64C(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTCCTCCTCAGCCAACTGTC	0.547																																						uc010pzg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(190-192)AGC>TGC		olfactory receptor, family 2, subfamily M,							355.0	327.0	336.0					1																	248366559		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366559A>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.190A>T	1.37:g.248366559A>T	ENSP00000389625:p.Ser64Cys						p.S64C	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	190	+	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)		64			Helical; Name=2; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.190A>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	A	5.759	0.324439	0.10900	.	.	ENSG00000228198	ENST00000456743	T	0.00408	7.54	2.44	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.429892	0.17142	U	0.185397	T	0.00384	0.0012	M	0.64997	1.995	0.09310	N	1	B	0.32604	0.377	B	0.39258	0.295	T	0.46190	-0.9209	10	0.87932	D	0	.	1.026	0.01528	0.5093:0.1861:0.122:0.1826	.	64	Q8NG83	OR2M3_HUMAN	C	64	ENSP00000389625:S64C	ENSP00000389625:S64C	S	+	1	0	OR2M3	246433182	0.000000	0.05858	0.508000	0.27688	0.444000	0.32077	-0.910000	0.04054	0.192000	0.20272	0.333000	0.21579	AGC		PASS	0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		394	505	394	505	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525095	248525095	+	Missense_Mutation	SNP	G	G	T	rs372778082		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:248525095G>T	ENST00000366475.1	+	1	213	c.213G>T	c.(211-213)ttG>ttT	p.L71F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L71F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGGCGTTGTCTGGAAATG	0.473																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(211-213)TTG>TTT		olfactory receptor, family 2, subfamily T,							337.0	267.0	291.0					1																	248525095		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525095G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.213G>T	1.37:g.248525095G>T	ENSP00000355431:p.Leu71Phe						p.L71F	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	213	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		71			Helical; Name=1; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.213G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901361	0.17760	.	.	ENSG00000196944	ENST00000366475	T	0.00558	6.61	3.48	0.418	0.16429	.	0.321942	0.18593	N	0.136675	T	0.00666	0.0022	M	0.76433	2.335	0.09310	N	1	B	0.14012	0.009	B	0.25614	0.062	T	0.43245	-0.9403	10	0.38643	T	0.18	.	4.4018	0.11390	0.4047:0.1647:0.4307:0.0	.	71	Q8NH00	OR2T4_HUMAN	F	71	ENSP00000355431:L71F	ENSP00000355431:L71F	L	+	3	2	OR2T4	246591718	0.000000	0.05858	0.625000	0.29200	0.035000	0.12851	-1.119000	0.03276	0.025000	0.15241	0.485000	0.47835	TTG		PASS	0.473	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		284	478	284	478	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248569700	248569700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:248569700C>A	ENST00000366474.1	+	1	405	c.405C>A	c.(403-405)taC>taA	p.Y135*		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y135*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTTAATTACCTGCTGGATC	0.468																																						uc010pzm.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(403-405)TAC>TAA		olfactory receptor, family 2, subfamily T,							192.0	182.0	185.0					1																	248569700		2203	4300	6503	SO:0001587	stop_gained	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569700C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.405C>A	1.37:g.248569700C>A	ENSP00000355430:p.Tyr135*						p.Y135*	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	405	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		135			Extracellular (Potential).		Q6IEZ9	Nonsense_Mutation	SNP	ENST00000366474.1	37	c.405C>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	10.95	1.497144	0.26861	.	.	ENSG00000175143	ENST00000366474	.	.	.	4.75	-6.43	0.01926	.	0.000000	0.33553	U	0.004800	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0457	0.36345	0.0:0.1528:0.2174:0.6298	.	.	.	.	X	135	.	ENSP00000355430:Y135X	Y	+	3	2	OR2T1	246636323	0.000000	0.05858	0.000000	0.03702	0.341000	0.28922	-0.538000	0.06120	-0.936000	0.03723	-0.143000	0.13931	TAC		PASS	0.468	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			219	389	219	389	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616203	248616203	+	Missense_Mutation	SNP	C	C	G	rs528774471		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:248616203C>G	ENST00000342927.3	+	1	127	c.105C>G	c.(103-105)atC>atG	p.I35M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I35M(1)|p.I35I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCCATCTTTGTGGTGG	0.532																																						uc001iek.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	skin(1)	1						c.(103-105)ATC>ATG		olfactory receptor, family 2, subfamily T,							200.0	219.0	213.0					1																	248616203		2203	4300	6503	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616203C>G	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.105C>G	1.37:g.248616203C>G	ENSP00000343062:p.Ile35Met						p.I35M	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	105	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		35			Helical; Name=1; (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.105C>G	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	c	10.03	1.237716	0.22711	.	.	ENSG00000196240	ENST00000342927	T	0.00441	7.41	3.2	2.28	0.28536	.	0.000000	0.48767	D	0.000167	T	0.00412	0.0013	L	0.39020	1.185	0.30556	N	0.765021	D	0.57899	0.981	P	0.55161	0.77	T	0.55679	-0.8103	10	0.44086	T	0.13	.	5.0448	0.14477	0.0:0.6182:0.0:0.3818	.	35	Q6IF00	OR2T2_HUMAN	M	35	ENSP00000343062:I35M	ENSP00000343062:I35M	I	+	3	3	OR2T2	246682826	0.012000	0.17670	1.000000	0.80357	0.546000	0.35178	-0.964000	0.03833	0.547000	0.28938	0.298000	0.19748	ATC		PASS	0.532	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		112	488	112	488	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27706745	27706745	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:27706745T>A	ENST00000260570.3	-	5	499	c.396A>T	c.(394-396)gaA>gaT	p.E132D	IFT172_ENST00000359466.6_Missense_Mutation_p.E132D|IFT172_ENST00000416524.2_Missense_Mutation_p.E111D	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	132					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.E132D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTACCTTCCCTTCAGCCAGTC	0.468																																						uc002rku.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(394-396)GAA>GAT		selective LIM binding factor homolog							123.0	118.0	120.0					2																	27706745		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27706745T>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.396A>T	2.37:g.27706745T>A	ENSP00000260570:p.Glu132Asp					IFT172_uc002rkw.2_Missense_Mutation_p.E132D|IFT172_uc010yls.1_Missense_Mutation_p.E111D|IFT172_uc010ezc.2_Missense_Mutation_p.E132D|IFT172_uc002rkv.2_Missense_Mutation_p.E132D	p.E132D	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			5	447	-	Acute lymphoblastic leukemia(172;0.155)		132			WD 3.		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.396A>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	6.087	0.384382	0.11524	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.54479	0.57;0.57;2.7	5.87	1.99	0.26369	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.053617	0.85682	D	0.000000	T	0.18509	0.0444	N	0.01576	-0.805	0.52099	D	0.999946	B;B;B;B	0.12013	0.005;0.001;0.003;0.002	B;B;B;B	0.15484	0.013;0.002;0.009;0.004	T	0.28427	-1.0044	10	0.02654	T	1	-18.1822	8.7161	0.34411	0.0:0.1985:0.0:0.8015	.	132;132;132;132	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	D	132;132;111	ENSP00000260570:E132D;ENSP00000352443:E132D;ENSP00000407408:E111D	ENSP00000260570:E132D	E	-	3	2	IFT172	27560249	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	0.537000	0.23144	0.488000	0.27723	0.533000	0.62120	GAA		PASS	0.468	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		66	85	66	85	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61463468	61463468	+	Silent	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:61463468T>C	ENST00000398571.2	-	54	6910	c.6834A>G	c.(6832-6834)acA>acG	p.T2278T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2278					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T2278T(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACCCAAAATATGTATGTTCAA	0.239																																						uc002sbe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(6832-6834)ACA>ACG		ubiquitin specific protease 34							29.0	26.0	27.0					2																	61463468		1786	4015	5801	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61463468T>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6834A>G	2.37:g.61463468T>C						USP34_uc002sbf.2_Silent_p.T428T	p.T2278T	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		54	6856	-			2278					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.6834A>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	8.509	0.866172	0.17250	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.52	-2.37	0.06643	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28106	-1.0054	4	.	.	.	.	1.2045	0.01892	0.21:0.2605:0.1033:0.4262	.	.	.	.	V	38	.	.	I	-	1	0	USP34	61316972	0.054000	0.20591	0.985000	0.45067	0.995000	0.86356	-0.804000	0.04535	-0.657000	0.05373	-0.264000	0.10439	ATA		PASS	0.239	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			10	27	10	27	---	---	---	---
TGFA	7039	broad.mit.edu	37	2	70742029	70742029	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:70742029G>A	ENST00000295400.6	-	2	303	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TGFA_ENST00000460808.1_5'UTR|TGFA_ENST00000445399.1_Missense_Mutation_p.A19V|TGFA_ENST00000450929.1_Missense_Mutation_p.A25V|TGFA_ENST00000418333.2_Missense_Mutation_p.A19V|TGFA_ENST00000444975.1_Missense_Mutation_p.A25V	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	19					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)	p.A19V(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCTGGCACGCAGCCAACAC	0.597																																						uc002sgs.3																			1	Substitution - Missense(1)		lung(1)	prostate(1)	1						c.(55-57)GCG>GTG		transforming growth factor, alpha isoform 1							74.0	65.0	68.0					2																	70742029		2203	4300	6503	SO:0001583	missense	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70742029G>A		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.56C>T	2.37:g.70742029G>A	ENSP00000295400:p.Ala19Val					TGFA_uc010fdq.2_Missense_Mutation_p.A25V|TGFA_uc010fdr.2_Missense_Mutation_p.A25V|TGFA_uc002sgt.3_Missense_Mutation_p.A19V|TGFA_uc002sgu.2_Missense_Mutation_p.A19V|TGFA_uc002sgv.2_Missense_Mutation_p.A19V|TGFA_uc002sgw.2_Missense_Mutation_p.A19V	p.A19V	NM_003236	NP_003227	P01135	TGFA_HUMAN			2	262	-			19					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Missense_Mutation	SNP	ENST00000295400.6	37	c.56C>T	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	G	5.866	0.344039	0.11126	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975;ENST00000394241	T;T;T;T;T;T	0.17213	2.55;2.31;2.31;2.3;2.29;2.3	5.14	2.6	0.31112	.	0.377651	0.24940	N	0.034385	T	0.07098	0.0180	N	0.08118	0	0.24501	N	0.994259	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.36553	-0.9743	10	0.20519	T	0.43	.	6.2326	0.20744	0.7672:0.0:0.2328:0.0	.	25;25;19;19;19;19;19	E7EPT6;F8VNR3;P01135-5;Q9UKM3;P01135-3;P01135-2;P01135	.;.;.;.;.;.;TGFA_HUMAN	V	19;19;19;25;25;19	ENSP00000295400:A19V;ENSP00000387493:A19V;ENSP00000404099:A19V;ENSP00000414127:A25V;ENSP00000404131:A25V;ENSP00000377787:A19V	ENSP00000295400:A19V	A	-	2	0	TGFA	70595537	1.000000	0.71417	0.917000	0.36280	0.231000	0.25187	2.007000	0.40883	0.435000	0.26365	-0.345000	0.07892	GCG		PASS	0.597	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2			13	40	13	40	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73677452	73677452	+	Silent	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:73677452A>T	ENST00000264448.6	+	8	3906	c.3795A>T	c.(3793-3795)tcA>tcT	p.S1265S	ALMS1_ENST00000409009.1_Silent_p.S1223S|ALMS1_ENST00000377715.1_Silent_p.S1265S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1265	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S1265S(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGAAAATTTCAGTTGCCTCTG	0.453																																						uc002sje.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(3799-3801)TCA>TCT		Alstrom syndrome 1							75.0	78.0	77.0					2																	73677452		1839	4077	5916	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677452A>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3795A>T	2.37:g.73677452A>T						ALMS1_uc002sjf.1_Silent_p.S1223S|ALMS1_uc002sjg.2_Silent_p.S653S|ALMS1_uc002sjh.1_Silent_p.S653S	p.S1267S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	3912	+			1265			16.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.3801A>T	CCDS42697.1																																																																																				PASS	0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		72	170	72	170	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79314031	79314033	+	Nonsense_Mutation	TNP	AGG	AGG	TTA			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:79314031_79314033AGG>TTA	ENST00000305089.3	-	3	168_170	c.88_90CCT>TAA	c.(88-90)CCT>TAA	p.P30*		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	30					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.P30S(2)|p.P30H(1)|p.P30P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TTCGGGGATTAGGCAGCTCTGTC	0.498																																						uc002sny.2																			4	Substitution - Missense(3)|Substitution - coding silent(1)		lung(3)|large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(88-90)CCT>CCA|c.(88-90)CCT>CAT|c.(88-90)CCT>TCT		regenerating islet-derived 1 beta precursor																																				SO:0001587	stop_gained	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79314031A>T|g.chr2:79314032G>T|g.chr2:79314033G>A		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.88_90CCT>TAA	2.37:g.79314031AGG>TTA	ENSP00000303206:p.Pro30*					REG1B_uc010ffv.1_Silent_p.P30P|REG1B_uc010ffw.2_Silent_p.P30P|REG1B_uc010ffv.1_Missense_Mutation_p.P30H|REG1B_uc010ffw.2_Missense_Mutation_p.P30H|REG1B_uc010ffv.1_Missense_Mutation_p.P30S|REG1B_uc010ffw.2_Missense_Mutation_p.P30S	p.P30P|p.P30H|p.P30S	NM_006507	NP_006498	P48304	REG1B_HUMAN			3	202|201|200	-			30						Silent|Missense_Mutation|Missense_Mutation	SNP	ENST00000305089.3	37	c.90T>A|c.89C>A|c.88C>T	CCDS1963.1																																																																																				PASS	0.498	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		49|55|51	305|305|300	49	300	---	---	---	---
RNF103	7844	broad.mit.edu	37	2	86831828	86831828	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:86831828G>T	ENST00000237455.4	-	4	2164	c.1196C>A	c.(1195-1197)aCa>aAa	p.T399K	AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	399					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T399K(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CAGTGTGGTTGTATTGGAATA	0.383																																						uc002srn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1195-1197)ACA>AAA		ring finger protein 103							76.0	79.0	78.0					2																	86831828		2201	4299	6500	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831828G>T	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1196C>A	2.37:g.86831828G>T	ENSP00000237455:p.Thr399Lys					VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.T260K|uc002sro.2_Intron	p.T399K	NM_005667	NP_005658	O00237	RN103_HUMAN			4	2165	-			399					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1196C>A	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861282	0.51482	.	.	ENSG00000239305	ENST00000237455	T	0.46819	0.86	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	L	0.60455	1.87	0.80722	D	1	P	0.43094	0.799	B	0.33339	0.162	T	0.53954	-0.8365	10	0.62326	D	0.03	-10.2654	19.5934	0.95525	0.0:0.0:1.0:0.0	.	399	O00237	RN103_HUMAN	K	399	ENSP00000237455:T399K	ENSP00000237455:T399K	T	-	2	0	RNF103	86685339	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.490000	0.97952	2.641000	0.89580	0.460000	0.39030	ACA		PASS	0.383	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		31	107	31	107	---	---	---	---
IGKV1D-16	28901	broad.mit.edu	37	2	90139450	90139450	+	RNA	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:90139450C>G	ENST00000492446.1	+	0	248									immunoglobulin kappa variable 1D-16																		TATGCTGCATCCAGTTTGCAA	0.522																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							124.0	129.0	128.0					2																	90139450		1891	4113	6004			0							g.chr2:90139450C>G	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139450C>G														18		+									RNA	SNP	ENST00000492446.1	37	c.2243C>G																																																																																					PASS	0.522	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		86	285	86	285	---	---	---	---
IGKV1D-13	28902	broad.mit.edu	37	2	90193270	90193270	+	RNA	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:90193270C>A	ENST00000390275.2	+	0	377									immunoglobulin kappa variable 1D-13																		GGGAAAGCTCCTAAGCTCCTG	0.527																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							151.0	119.0	129.0					2																	90193270		1894	4120	6014			0							g.chr2:90193270C>A	X17262		2p11.2	2014-05-06			ENSG00000211630	ENSG00000276566		"""Immunoglobulins / IGK locus"""	5747	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188271		2.37:g.90193270C>A														22		+									RNA	SNP	ENST00000390275.2	37	c.2860C>A																																																																																					PASS	0.527	IGKV1D-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323146.2	NG_000833		71	331	71	331	---	---	---	---
TMEM87B	84910	broad.mit.edu	37	2	112858218	112858218	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:112858218A>G	ENST00000283206.4	+	15	1765	c.1396A>G	c.(1396-1398)Ata>Gta	p.I466V	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	466						integral component of membrane (GO:0016021)		p.I466V(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CATGCCCTTAATAGATGATTC	0.279																																						uc002thm.2																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(1396-1398)ATA>GTA		transmembrane protein 87B precursor							89.0	92.0	91.0					2																	112858218		2202	4291	6493	SO:0001583	missense	84910					integral to membrane		g.chr2:112858218A>G	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1396A>G	2.37:g.112858218A>G	ENSP00000283206:p.Ile466Val						p.I466V	NM_032824	NP_116213	Q96K49	TM87B_HUMAN			15	1765	+			466					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.1396A>G	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908373	0.33721	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.85	5.85	0.93711	.	0.041576	0.85682	D	0.000000	T	0.44052	0.1275	L	0.33485	1.01	0.58432	D	0.999991	B	0.24823	0.112	B	0.18871	0.023	T	0.35895	-0.9770	9	0.10377	T	0.69	-32.7746	14.1838	0.65592	1.0:0.0:0.0:0.0	.	466	Q96K49	TM87B_HUMAN	V	466	.	ENSP00000283206:I466V	I	+	1	0	TMEM87B	112574689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.175000	0.65021	2.237000	0.73441	0.528000	0.53228	ATA		PASS	0.279	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		27	88	27	88	---	---	---	---
PSD4	23550	broad.mit.edu	37	2	113943638	113943638	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:113943638C>A	ENST00000245796.6	+	5	1629	c.1434C>A	c.(1432-1434)ggC>ggA	p.G478G	PSD4_ENST00000441564.3_Silent_p.G450G	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	478					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.G478G(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGCTCAGGCATTTTGCCCA	0.592																																						uc002tjc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1432-1434)GGC>GGA		pleckstrin and Sec7 domain containing 4							69.0	68.0	68.0					2																	113943638		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113943638C>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1434C>A	2.37:g.113943638C>A						PSD4_uc002tjd.2_Silent_p.G99G|PSD4_uc002tje.2_Silent_p.G449G|PSD4_uc002tjf.2_Silent_p.G99G	p.G478G	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			5	1617	+			478					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.1434C>A	CCDS33276.1																																																																																				PASS	0.592	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		73	82	73	82	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116548755	116548755	+	Splice_Site	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:116548755G>T	ENST00000410059.1	+	18	2110	c.1630G>T	c.(1630-1632)Gaa>Taa	p.E544*	DPP10_ENST00000310323.8_Splice_Site_p.E537*|DPP10_ENST00000393147.2_Splice_Site_p.E548*|DPP10_ENST00000409163.1_Splice_Site_p.E494*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	544						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.E544*(1)|p.E537*(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGACGACTATGGTAAAATTTT	0.323																																						uc002tla.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1630-1632)GAA>TAA		dipeptidyl peptidase 10 isoform long							77.0	80.0	79.0					2																	116548755		2201	4299	6500	SO:0001630	splice_region_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548755G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1630+1G>T	2.37:g.116548755G>T						DPP10_uc002tlb.1_Nonsense_Mutation_p.E494*|DPP10_uc002tlc.1_Nonsense_Mutation_p.E540*|DPP10_uc002tle.2_Nonsense_Mutation_p.E548*|DPP10_uc002tlf.1_Nonsense_Mutation_p.E537*	p.E544*	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			18	2087	+			544			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	c.1630G>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	41	8.801767	0.98960	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	5.54	5.54	0.83059	.	0.102488	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-23.1093	16.7937	0.85596	0.0:0.0:1.0:0.0	.	.	.	.	X	544;494;548;537;494	.	ENSP00000309066:E537X	E	+	1	0	DPP10	116265225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.612000	0.74187	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.323	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Nonsense_Mutation	20	70	20	70	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131130789	131130789	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:131130789C>T	ENST00000175756.5	+	15	1476	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	PTPN18_ENST00000347849.3_Missense_Mutation_p.R352W	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	459					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.R459W(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TGAGTGGACCCGGGTGTAAGT	0.622																																						uc002trc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(1375-1377)CGG>TGG		protein tyrosine phosphatase, non-receptor type							36.0	34.0	35.0					2																	131130789		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131130789C>T	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1375C>T	2.37:g.131130789C>T	ENSP00000175756:p.Arg459Trp					PTPN18_uc002trd.2_Missense_Mutation_p.R438W|PTPN18_uc002trb.2_Missense_Mutation_p.R352W|PTPN18_uc002tre.2_Missense_Mutation_p.R110W	p.R459W	NM_014369	NP_055184	Q99952	PTN18_HUMAN			15	1476	+	Colorectal(110;0.1)		459					B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.1375C>T	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.643009	0.67244	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	T;T	0.17054	3.14;2.3	5.29	4.39	0.52855	.	0.478909	0.15508	N	0.258698	T	0.35913	0.0948	L	0.59436	1.845	0.09310	N	0.999998	D;D;D	0.89917	0.999;1.0;1.0	P;P;D	0.69654	0.762;0.877;0.965	T	0.09930	-1.0652	10	0.87932	D	0	.	11.4076	0.49906	0.1811:0.8189:0.0:0.0	.	438;459;352	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	W	459;352;438	ENSP00000175756:R459W;ENSP00000310092:R352W	ENSP00000175756:R459W	R	+	1	2	PTPN18	130847259	0.055000	0.20627	0.225000	0.23894	0.493000	0.33554	1.494000	0.35616	1.321000	0.45227	0.655000	0.94253	CGG		PASS	0.622	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			12	25	12	25	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	140990892	140990892	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:140990892T>C	ENST00000389484.3	-	91	14634	c.13663A>G	c.(13663-13665)Aca>Gca	p.T4555A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4555					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T4555A(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTAATTTGTTGGCTGAAGG	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13663-13665)ACA>GCA		low density lipoprotein-related protein 1B							59.0	57.0	58.0					2																	140990892		2202	4293	6495	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990892T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13663A>G	2.37:g.140990892T>C	ENSP00000374135:p.Thr4555Ala	TSP Lung(27;0.18)					p.T4555A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14635	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4555			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13663A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.054026	0.36277	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.46451	0.87	5.69	4.54	0.55810	.	0.333086	0.27730	N	0.018095	T	0.38957	0.1060	L	0.52905	1.665	0.27067	N	0.963404	B	0.06786	0.001	B	0.04013	0.001	T	0.38308	-0.9667	10	0.72032	D	0.01	.	11.3577	0.49625	0.0:0.0706:0.0:0.9294	.	4555	Q9NZR2	LRP1B_HUMAN	A	4555;4493	ENSP00000374135:T4555A	ENSP00000374135:T4555A	T	-	1	0	LRP1B	140707362	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.975000	0.56859	0.997000	0.38969	0.477000	0.44152	ACA		PASS	0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	45	16	45	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163693071	163693071	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:163693071C>T	ENST00000332142.5	-	2	382	c.283G>A	c.(283-285)Gag>Aag	p.E95K	KCNH7_ENST00000328032.4_Missense_Mutation_p.E95K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	95	PAC.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E95K(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TAGGTGACCTCCACTTTCCTC	0.418																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(283-285)GAG>AAG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						72.0	65.0	67.0					2																	163693071		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163693071C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.283G>A	2.37:g.163693071C>T	ENSP00000331727:p.Glu95Lys					KCNH7_uc002uci.2_Missense_Mutation_p.E95K	p.E95K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			2	495	-			95			Cytoplasmic (Potential).|PAC.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.283G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574500	0.96553	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99793	-6.77;-6.77	5.87	5.87	0.94306	PAS fold-3 (1);PAS (1);	0.053076	0.64402	D	0.000001	D	0.99661	0.9874	M	0.82517	2.595	0.54753	D	0.999989	P;P	0.40909	0.732;0.721	B;P	0.50590	0.348;0.645	D	0.97755	1.0217	10	0.87932	D	0	.	19.1942	0.93681	0.0:1.0:0.0:0.0	.	95;95	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	K	95	ENSP00000331727:E95K;ENSP00000333781:E95K	ENSP00000333781:E95K	E	-	1	0	KCNH7	163401317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	GAG		PASS	0.418	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		24	90	24	90	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166773802	166773802	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:166773802C>G	ENST00000243344.7	-	14	2001	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	622					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.E622Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCTATCAATTCAAGAAAGATC	0.358																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(1864-1866)GAA>CAA		tetratricopeptide repeat domain 21B							142.0	134.0	137.0					2																	166773802		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166773802C>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1864G>C	2.37:g.166773802C>G	ENSP00000243344:p.Glu622Gln						p.E622Q	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			14	1997	-			622			TPR 8.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.1864G>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.807969	0.70797	.	.	ENSG00000123607	ENST00000243344	T	0.75367	-0.93	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86464	0.1781	10	0.49607	T	0.09	-16.5833	19.9265	0.97104	0.0:1.0:0.0:0.0	.	622	Q7Z4L5	TT21B_HUMAN	Q	622	ENSP00000243344:E622Q	ENSP00000243344:E622Q	E	-	1	0	TTC21B	166482048	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	7.625000	0.83145	2.723000	0.93209	0.591000	0.81541	GAA		PASS	0.358	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		77	139	77	139	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168100236	168100236	+	Silent	SNP	G	G	T	rs191792139		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:168100236G>T	ENST00000409195.1	+	9	2423	c.2334G>T	c.(2332-2334)ccG>ccT	p.P778P	XIRP2_ENST00000295237.9_Silent_p.P778P|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.P556P|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	603					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.P778P(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACACAGCCGTTGGACACAA	0.413																																						uc002udx.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(2332-2334)CCG>CCT		xin actin-binding repeat containing 2 isoform 1							69.0	65.0	66.0					2																	168100236		1860	4097	5957	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100236G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2334G>T	2.37:g.168100236G>T						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P603P|XIRP2_uc010fpq.2_Silent_p.P556P|XIRP2_uc010fpr.2_Intron	p.P778P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2352	+			603			Xin 7.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2334G>T	CCDS42769.1																																																																																				PASS	0.413	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		83	40	83	40	---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190340027	190340027	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:190340027C>G	ENST00000314761.4	+	21	2437	c.2377C>G	c.(2377-2379)Cag>Gag	p.Q793E		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	793						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q793E(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			CGAAAAAGTCCAGGATACAAG	0.318																																						uc002uql.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2377-2379)CAG>GAG		WD repeat domain 75							59.0	60.0	60.0					2																	190340027		2203	4300	6503	SO:0001583	missense	84128					nucleolus		g.chr2:190340027C>G	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2377C>G	2.37:g.190340027C>G	ENSP00000314193:p.Gln793Glu					WDR75_uc002uqm.1_Missense_Mutation_p.Q729E|WDR75_uc002uqn.1_Missense_Mutation_p.Q571E|WDR75_uc002uqo.1_Missense_Mutation_p.Q571E	p.Q793E	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		21	2437	+			793					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.2377C>G	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	1.221	-0.626763	0.03610	.	.	ENSG00000115368	ENST00000314761	T	0.59906	0.23	5.54	3.68	0.42216	.	0.211744	0.41097	N	0.000942	T	0.48021	0.1477	L	0.56769	1.78	0.20764	N	0.999853	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.37776	-0.9691	10	0.06099	T	0.92	-3.091	12.5239	0.56075	0.1364:0.7398:0.1238:0.0	.	793;793	A8K330;Q8IWA0	.;WDR75_HUMAN	E	793	ENSP00000314193:Q793E	ENSP00000314193:Q793E	Q	+	1	0	WDR75	190048272	0.991000	0.36638	0.005000	0.12908	0.243000	0.25628	2.984000	0.49353	0.763000	0.33175	0.591000	0.81541	CAG		PASS	0.318	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		90	17	90	17	---	---	---	---
STK36	27148	broad.mit.edu	37	2	219540970	219540970	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:219540970G>A	ENST00000295709.3	+	6	932	c.653G>A	c.(652-654)cGc>cAc	p.R218H	STK36_ENST00000440309.1_Missense_Mutation_p.R218H|STK36_ENST00000392106.2_Missense_Mutation_p.R218H|STK36_ENST00000392105.3_Missense_Mutation_p.R218H	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.R218H(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GACCCTGTGCGCTGGCCCTCA	0.458																																						uc002viu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(652-654)CGC>CAC		serine/threonine kinase 36							76.0	71.0	73.0					2																	219540970		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219540970G>A	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.653G>A	2.37:g.219540970G>A	ENSP00000295709:p.Arg218His					STK36_uc002viv.2_Missense_Mutation_p.R218H	p.R218H	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	6	919	+		Renal(207;0.0915)	218			Protein kinase.			Missense_Mutation	SNP	ENST00000295709.3	37	c.653G>A	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934361	0.52866	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.49	5.49	0.81192	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	0.45361	D	0.000363	T	0.53126	0.1777	L	0.35644	1.08	0.41380	D	0.987543	P;P	0.42993	0.797;0.702	B;B	0.41917	0.186;0.37	T	0.58255	-0.7668	10	0.72032	D	0.01	-19.2839	10.3182	0.43749	0.1149:0.0:0.8851:0.0	.	218;218	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	H	218	ENSP00000295709:R218H;ENSP00000375955:R218H;ENSP00000375954:R218H;ENSP00000394095:R218H;ENSP00000403527:R218H	ENSP00000295709:R218H	R	+	2	0	STK36	219249214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.959000	0.49153	2.865000	0.98341	0.655000	0.94253	CGC		PASS	0.458	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			61	33	61	33	---	---	---	---
FAM124B	79843	broad.mit.edu	37	2	225266379	225266379	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:225266379C>A	ENST00000409685.3	-	1	372	c.107G>T	c.(106-108)tGc>tTc	p.C36F	FAM124B_ENST00000243806.2_Missense_Mutation_p.C36F|FAM124B_ENST00000389874.3_Missense_Mutation_p.C36F	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	36								p.C36F(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GACCTCTGGGCAAATGCAATC	0.577																																						uc002vnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(106-108)TGC>TTC		hypothetical protein LOC79843 isoform a							38.0	42.0	40.0					2																	225266379		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266379C>A	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.107G>T	2.37:g.225266379C>A	ENSP00000386895:p.Cys36Phe					FAM124B_uc002vnw.2_Missense_Mutation_p.C36F	p.C36F	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	333	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	36					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.107G>T	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637173	0.47049	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.42900	0.96;0.96;0.96	5.95	1.81	0.25067	.	0.282257	0.46442	N	0.000293	T	0.32793	0.0841	L	0.47716	1.5	0.39714	D	0.971378	B;B	0.17667	0.023;0.004	B;B	0.16722	0.016;0.006	T	0.11966	-1.0566	10	0.33940	T	0.23	-8.5026	9.3286	0.38008	0.3686:0.5668:0.0:0.0646	.	36;36	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	F	36	ENSP00000374524:C36F;ENSP00000386895:C36F;ENSP00000243806:C36F	ENSP00000243806:C36F	C	-	2	0	FAM124B	224974623	0.999000	0.42202	0.628000	0.29241	0.956000	0.61745	1.651000	0.37302	0.368000	0.24481	0.655000	0.94253	TGC		PASS	0.577	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		25	26	25	26	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234407258	234407258	+	Splice_Site	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr2:234407258C>A	ENST00000427112.2	-	22	2683	c.2648G>T	c.(2647-2649)gGa>gTa	p.G883V	USP40_ENST00000409945.1_Splice_Site_p.G59V|USP40_ENST00000251722.6_Splice_Site_p.G883V|USP40_ENST00000450966.1_Splice_Site_p.G895V			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	883					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G895V(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCAGGCATCTCCTATAAAGGA	0.373																																						uc010zmr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|breast(1)	3						c.(2683-2685)GGA>GTA		ubiquitin thioesterase 40							57.0	53.0	54.0					2																	234407258		1848	4089	5937	SO:0001630	splice_region_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234407258C>A	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2648-1G>T	2.37:g.234407258C>A						USP40_uc010zms.1_5'UTR|USP40_uc002vun.2_Missense_Mutation_p.G59V|USP40_uc002vuo.1_Missense_Mutation_p.G59V	p.G895V	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	22	2684	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	883					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.2684G>T	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.699891|3.699891	0.68501|0.68501	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.|T;T;T	.|0.08634	.|3.07;3.07;3.07	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.279542	.|0.45867	.|D	.|0.000338	.|T	.|0.28333	.|0.0700	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.999	.|T	.|0.00313	.|-1.1825	.|10	.|0.87932	.|D	.|0	.|.	16.2421|16.2421	0.82418|0.82418	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|895;59;543	.|Q9NVE5-3;Q9NVE5-2;B4DN96	.|.;.;.	X|V	59|895;883;883;59	.|ENSP00000415434:G895V;ENSP00000251722:G883V;ENSP00000387898:G883V	.|ENSP00000251722:G883V	E|G	-|-	1|2	0|0	USP40|USP40	234071997|234071997	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.622000|0.622000	0.37654|0.37654	4.692000|4.692000	0.61746|0.61746	2.679000|2.679000	0.91253|0.91253	0.650000|0.650000	0.86243|0.86243	GAG|GGA		PASS	0.373	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	Missense_Mutation	22	17	22	17	---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52842629	52842629	+	Missense_Mutation	SNP	G	G	A	rs199755994	byFrequency	TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:52842629G>A	ENST00000449956.2	+	22	2611	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	ITIH3_ENST00000416872.2_Missense_Mutation_p.V677I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	869					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V869I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCTGGTTCGTCCACAACAA	0.537													G|||	5	0.000998403	0.0	0.0014	5008	,	,		19429	0.0		0.0	False		,,,				2504	0.0041					uc003dfv.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(2)|liver(1)	3						c.(2605-2607)GTC>ATC		inter-alpha (globulin) inhibitor H3		G	ILE/VAL	1,4115		0,1,2057	110.0	109.0	110.0		2605	4.8	1.0	3		110	0,8380		0,0,4190	no	missense	ITIH3	NM_002217.3	29	0,1,6247	AA,AG,GG		0.0,0.0243,0.0080	possibly-damaging	869/891	52842629	1,12495	2058	4190	6248	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52842629G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2605G>A	3.37:g.52842629G>A	ENSP00000415769:p.Val869Ile					ITIH3_uc011bek.1_Missense_Mutation_p.V677I	p.V869I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	22	2641	+			869					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.2605G>A	CCDS46845.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.36	3.369890	0.61624	2.43E-4	0.0	ENSG00000162267	ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.15603	2.41;2.41	5.65	4.77	0.60923	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.189856	0.46145	N	0.000311	T	0.33469	0.0864	L	0.54323	1.7	0.29241	N	0.872638	D;P	0.76494	0.999;0.86	D;B	0.79784	0.993;0.28	T	0.12218	-1.0556	10	0.30078	T	0.28	-32.0456	11.5653	0.50802	0.0839:0.0:0.9161:0.0	.	677;869	E7ET33;Q06033	.;ITIH3_HUMAN	I	864;677;869	ENSP00000413922:V677I;ENSP00000415769:V869I	ENSP00000273291:V864I	V	+	1	0	ITIH3	52817669	0.964000	0.33143	0.995000	0.50966	0.833000	0.47200	1.484000	0.35508	1.395000	0.46643	0.655000	0.94253	GTC		PASS	0.537	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		29	70	29	70	---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69101202	69101202	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:69101202G>A	ENST00000398559.2	-	1	252	c.36C>T	c.(34-36)ttC>ttT	p.F12F	CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Silent_p.F12F			P82094	TMF1_HUMAN	TATA element modulatory factor 1	12					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.F12F(3)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CCTGCTTAGCGAAGCTGGAGA	0.637																																						uc003dnn.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(34-36)TTC>TTT		TATA element modulatory factor 1							64.0	68.0	67.0					3																	69101202		1929	4148	6077	SO:0001819	synonymous_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69101202G>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.36C>T	3.37:g.69101202G>A						TMF1_uc011bfx.1_Silent_p.F12F	p.F12F	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	1	283	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	12					B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	37	c.36C>T	CCDS43105.1																																																																																				PASS	0.637	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		29	87	29	87	---	---	---	---
TRAT1	50852	broad.mit.edu	37	3	108568055	108568055	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:108568055C>G	ENST00000295756.6	+	5	487	c.257C>G	c.(256-258)cCa>cGa	p.P86R	TRAT1_ENST00000426646.1_Missense_Mutation_p.P49R	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	86					cellular defense response (GO:0006968)|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)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.P86R(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AAAGCCCGACCAGAGAAATCT	0.348																																						uc003dxi.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(256-258)CCA>CGA		T-cell receptor interacting molecule							82.0	82.0	82.0					3																	108568055		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108568055C>G	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.257C>G	3.37:g.108568055C>G	ENSP00000295756:p.Pro86Arg					TRAT1_uc010hpx.1_Missense_Mutation_p.P49R	p.P86R	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	401	+			86			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.257C>G	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352662	0.61293	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.55052	0.54;0.54	5.3	4.41	0.53225	.	0.000000	0.64402	D	0.000014	T	0.67942	0.2947	M	0.69823	2.125	0.39880	D	0.973628	D;D	0.71674	0.998;0.991	D;P	0.66602	0.945;0.908	T	0.73043	-0.4107	10	0.87932	D	0	-6.6304	11.5478	0.50702	0.1791:0.8209:0.0:0.0	.	49;86	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	R	86;49	ENSP00000295756:P86R;ENSP00000410097:P49R	ENSP00000295756:P86R	P	+	2	0	TRAT1	110050745	0.959000	0.32827	0.866000	0.34008	0.947000	0.59692	3.906000	0.56340	1.351000	0.45789	0.557000	0.71058	CCA		PASS	0.348	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		43	163	43	163	---	---	---	---
TMPRSS7	344805	broad.mit.edu	37	3	111797663	111797663	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:111797663G>T	ENST00000452346.2	+	17	2302	c.2299G>T	c.(2299-2301)Ggg>Tgg	p.G767W	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.G641W			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	767	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G496W(1)|p.G641W(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTCCACCTACGGGATCATCAC	0.463																																						uc010hqb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(1921-1923)GGG>TGG		transmembrane protease, serine 7							101.0	101.0	101.0					3																	111797663		1961	4149	6110	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111797663G>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2299G>T	3.37:g.111797663G>T	ENSP00000398236:p.Gly767Trp					TMPRSS7_uc011bhr.1_Missense_Mutation_p.G496W	p.G641W	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			15	2091	+			767			Extracellular (Potential).|Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1921G>T		.	.	.	.	.	.	.	.	.	.	G	25.6	4.659396	0.88154	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.89746	-2.56;-2.56	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	L	0.55743	1.74	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93407	0.6765	10	0.87932	D	0	.	16.9482	0.86236	0.0:0.0:1.0:0.0	.	767;641	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	W	767;755;741;641	ENSP00000398236:G767W;ENSP00000411645:G641W	ENSP00000411645:G641W	G	+	1	0	TMPRSS7	113280353	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.951000	0.75983	2.716000	0.92895	0.655000	0.94253	GGG		PASS	0.463	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		32	82	32	82	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111927157	111927157	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:111927157G>A	ENST00000305815.5	-	16	2106	c.1854C>T	c.(1852-1854)taC>taT	p.Y618Y	SLC9C1_ENST00000487372.1_Silent_p.Y570Y	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	618	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.Y618Y(1)									ATATCACAAGGTATCCAACAT	0.294																																						uc003dyu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)	5						c.(1852-1854)TAC>TAT		sperm-specific sodium proton exchanger							86.0	102.0	97.0					3																	111927157		2200	4286	6486	SO:0001819	synonymous_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111927157G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1854C>T	3.37:g.111927157G>A						SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Silent_p.Y570Y	p.Y618Y	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			16	2076	-			618			Helical; (Potential).|Ion transport-like.		Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	c.1854C>T	CCDS33817.1																																																																																				PASS	0.294	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		40	138	40	138	---	---	---	---
PLA1A	51365	broad.mit.edu	37	3	119348282	119348282	+	Silent	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:119348282T>A	ENST00000273371.4	+	11	1410	c.1338T>A	c.(1336-1338)acT>acA	p.T446T	PLA1A_ENST00000488919.1_Silent_p.T273T|PLA1A_ENST00000495992.1_Silent_p.T430T|PLA1A_ENST00000494440.1_Silent_p.T430T	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	446	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)	p.T446T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAAGTGTGACTGTTTCCTGTG	0.463																																						uc003ecu.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1336-1338)ACT>ACA		phospholipase A1 member A precursor							160.0	143.0	149.0					3																	119348282		2203	4300	6503	SO:0001819	synonymous_variant	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119348282T>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.1338T>A	3.37:g.119348282T>A						PLA1A_uc003ecv.2_Silent_p.T430T|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Silent_p.T273T	p.T446T	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			11	1377	+			446			Involved in the recognition of diacyl- phospholipids.		B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	ENST00000273371.4	37	c.1338T>A	CCDS2991.1																																																																																				PASS	0.463	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			160	121	160	121	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129290355	129290355	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:129290355G>A	ENST00000324093.4	-	17	3511	c.3333C>T	c.(3331-3333)ccC>ccT	p.P1111P	PLXND1_ENST00000393239.1_Silent_p.P1111P	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1111	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.P1111P(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCTCACCGTGGGCTCCCGGC	0.662																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(3331-3333)CCC>CCT		plexin D1 precursor							41.0	42.0	42.0					3																	129290355		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290355G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3333C>T	3.37:g.129290355G>A							p.P1111P	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			17	3433	-			1111			Extracellular (Potential).|IPT/TIG 3.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3333C>T	CCDS33854.1																																																																																				PASS	0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		39	66	39	66	---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134256052	134256052	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:134256052A>T	ENST00000337090.3	+	6	670	c.497A>T	c.(496-498)cAg>cTg	p.Q166L	CEP63_ENST00000513612.2_Missense_Mutation_p.Q166L|CEP63_ENST00000354446.3_Missense_Mutation_p.Q166L|CEP63_ENST00000383229.3_Missense_Mutation_p.Q166L|CEP63_ENST00000606977.1_Missense_Mutation_p.Q166L|CEP63_ENST00000332047.5_Missense_Mutation_p.Q166L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	166					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.Q166L(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TATCAGCAACAGGTATCTTCA	0.428																																						uc003eqo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)CAG>CTG		centrosomal protein 63 isoform a							113.0	116.0	115.0					3																	134256052		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134256052A>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.497A>T	3.37:g.134256052A>T	ENSP00000336524:p.Gln166Leu					CEP63_uc003eql.1_Missense_Mutation_p.Q166L|CEP63_uc003eqm.2_Missense_Mutation_p.Q166L|CEP63_uc003eqn.1_Missense_Mutation_p.Q166L	p.Q166L	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			7	946	+			166			Potential.		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.497A>T	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.8|25.8	4.673996|4.673996	0.88445|0.88445	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612|ENST00000508778	T;T;T;T;T|.	0.35789|.	1.98;1.7;1.98;1.29;1.98|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74199|0.74199	0.3685|0.3685	M|M	0.71581|0.71581	2.175|2.175	0.52501|0.52501	D|D	0.999956|0.999956	D;D;D;P|.	0.76494|.	0.98;0.996;0.999;0.902|.	P;D;D;P|.	0.68765|.	0.718;0.921;0.96;0.6|.	T|T	0.74225|0.74225	-0.3734|-0.3734	10|5	0.66056|.	D|.	0.02|.	-14.9432|-14.9432	15.9735|15.9735	0.80040|0.80040	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	166;166;166;166|.	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3|.	CEP63_HUMAN;.;.;.|.	L|W	166|91	ENSP00000328382:Q166L;ENSP00000346432:Q166L;ENSP00000336524:Q166L;ENSP00000372716:Q166L;ENSP00000426129:Q166L|.	ENSP00000328382:Q166L|.	Q|R	+|+	2|1	0|2	CEP63|CEP63	135738742|135738742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.425000|7.425000	0.80255|0.80255	2.159000|2.159000	0.67721|0.67721	0.533000|0.533000	0.62120|0.62120	CAG|AGG		PASS	0.428	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		40	178	40	178	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141497223	141497223	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:141497223C>A	ENST00000264952.2	+	1	234	c.97C>A	c.(97-99)Cgg>Agg	p.R33R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	33					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R33R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCTGCAGCGGCGGCGGCGTAG	0.687																																						uc011bnd.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(97-99)CGG>AGG		G-protein-coupled receptor kinase 7 precursor							19.0	24.0	23.0					3																	141497223		2200	4296	6496	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497223C>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.97C>A	3.37:g.141497223C>A							p.R33R	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			1	181	+			33						Silent	SNP	ENST00000264952.2	37	c.97C>A	CCDS3120.1																																																																																				PASS	0.687	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		26	57	26	57	---	---	---	---
PLSCR1	5359	broad.mit.edu	37	3	146234826	146234826	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:146234826C>G	ENST00000342435.4	-	8	1277	c.867G>C	c.(865-867)atG>atC	p.M289I	PLSCR1_ENST00000484560.1_5'UTR|PLSCR1_ENST00000448205.1_Start_Codon_SNP_p.M1I|PLSCR1_ENST00000487389.1_Missense_Mutation_p.M282I|PLSCR1_ENST00000448787.2_Missense_Mutation_p.M208I	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	289					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)	p.M289I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TTACAGCTTTCATTTTAACAT	0.363																																						uc003evx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(865-867)ATG>ATC		phospholipid scramblase 1							129.0	122.0	124.0					3																	146234826		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146234826C>G	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.867G>C	3.37:g.146234826C>G	ENSP00000345494:p.Met289Ile					PLSCR1_uc003evy.3_Missense_Mutation_p.M282I|PLSCR1_uc011bnn.1_Missense_Mutation_p.M208I|PLSCR1_uc003evz.3_RNA	p.M289I	NM_021105	NP_066928	O15162	PLS1_HUMAN			8	1255	-			289			Helical; (Potential).		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.867G>C	CCDS3135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.40|11.40	1.626917|1.626917	0.28978|0.28978	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000342435;ENST00000448205;ENST00000487389;ENST00000448787|ENST00000483300	T;T;T;T|.	0.28255|.	1.62;1.96;1.62;1.62|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.000000|.	0.42420|.	U|.	0.000719|.	T|.	0.40347|.	0.1113|.	L|L	0.33485|0.33485	1.01|1.01	0.22779|0.22779	N|N	0.998746|0.998746	B;B|.	0.21225|.	0.019;0.053|.	B;B|.	0.22601|.	0.034;0.04|.	T|.	0.27088|.	-1.0084|.	10|.	0.33940|.	T|.	0.23|.	.|.	13.9834|13.9834	0.64319|0.64319	0.0:0.8483:0.1517:0.0|0.0:0.8483:0.1517:0.0	.|.	208;289|.	B4DTE8;O15162|.	.;PLS1_HUMAN|.	I|S	289;1;282;208|156	ENSP00000345494:M289I;ENSP00000414653:M1I;ENSP00000417792:M282I;ENSP00000411675:M208I|.	ENSP00000345494:M289I|.	M|X	-|-	3|2	0|2	PLSCR1|PLSCR1	147717516|147717516	0.323000|0.323000	0.24643|0.24643	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	-0.321000|-0.321000	0.08018|0.08018	2.392000|2.392000	0.81423|0.81423	0.555000|0.555000	0.69702|0.69702	ATG|TGA		PASS	0.363	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		129	117	129	117	---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148752709	148752709	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:148752709G>A	ENST00000310053.5	-	24	3066	c.2873C>T	c.(2872-2874)aCa>aTa	p.T958I	HLTF_ENST00000392912.2_Missense_Mutation_p.T958I|HLTF_ENST00000465259.1_Missense_Mutation_p.T957I|HLTF_ENST00000494055.1_Missense_Mutation_p.T958I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	958	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with SP1 and SP3.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T958I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACTCACTTTTGTGATGATAAC	0.338																																						uc003ewq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2872-2874)ACA>ATA		helicase-like transcription factor							114.0	109.0	111.0					3																	148752709		2202	4300	6502	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148752709G>A	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2873C>T	3.37:g.148752709G>A	ENSP00000308944:p.Thr958Ile					HLTF_uc003ewr.1_Missense_Mutation_p.T958I|HLTF_uc003ews.1_Missense_Mutation_p.T957I|HLTF_uc010hve.1_Missense_Mutation_p.T957I	p.T958I	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		24	3091	-			958			Helicase C-terminal.|Interaction with SP1 and SP3.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.2873C>T	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840588	0.51057	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.52	5.52	0.82312	Helicase, C-terminal (1);	.	.	.	.	T	0.72244	0.3436	N	0.11427	0.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.991	T	0.74197	-0.3743	9	0.33940	T	0.23	-22.311	19.0568	0.93069	0.0:0.0:1.0:0.0	.	958;958;958	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	I	957;958;958;958	ENSP00000420745:T957I;ENSP00000308944:T958I;ENSP00000376644:T958I;ENSP00000420429:T958I	ENSP00000308944:T958I	T	-	2	0	HLTF	150235399	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.938000	0.92943	2.603000	0.88011	0.650000	0.86243	ACA		PASS	0.338	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			18	120	18	120	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151112454	151112454	+	Silent	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:151112454A>G	ENST00000474524.1	+	37	5552	c.5514A>G	c.(5512-5514)agA>agG	p.R1838R	MED12L_ENST00000273432.4_Silent_p.R1698R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1838						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R1838R(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGGCTCCAGATTGGACCCTG	0.463																																						uc003eyp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(5512-5514)AGA>AGG		mediator of RNA polymerase II transcription,							134.0	140.0	138.0					3																	151112454		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151112454A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5514A>G	3.37:g.151112454A>G						MED12L_uc011bnz.1_Silent_p.R1698R	p.R1838R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		37	5552	+			1838					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5514A>G	CCDS33876.1																																																																																				PASS	0.463	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		156	165	156	165	---	---	---	---
SI	6476	broad.mit.edu	37	3	164712050	164712050	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:164712050C>A	ENST00000264382.3	-	41	4898	c.4836G>T	c.(4834-4836)ttG>ttT	p.L1612F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1612	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.L1612F(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTTACTCATGCAAAAGGGGTC	0.313										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4834-4836)TTG>TTT		sucrase-isomaltase	Acarbose(DB00284)						92.0	89.0	90.0					3																	164712050		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712050C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4836G>T	3.37:g.164712050C>A	ENSP00000264382:p.Leu1612Phe	HNSCC(35;0.089)					p.L1612F	NM_001041	NP_001032	P14410	SUIS_HUMAN			41	4898	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1612			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4836G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569038	0.45798	.	.	ENSG00000090402	ENST00000264382	D	0.90504	-2.68	5.2	2.43	0.29744	.	0.307762	0.30151	N	0.010298	D	0.86531	0.5955	N	0.11201	0.11	0.38811	D	0.955416	P	0.51240	0.943	D	0.64506	0.926	D	0.83975	0.0329	10	0.45353	T	0.12	.	4.9948	0.14233	0.1246:0.6121:0.1212:0.1421	.	1612	P14410	SUIS_HUMAN	F	1612	ENSP00000264382:L1612F	ENSP00000264382:L1612F	L	-	3	2	SI	166194744	0.955000	0.32602	0.990000	0.47175	0.935000	0.57460	0.063000	0.14410	0.890000	0.36211	-0.147000	0.13772	TTG		PASS	0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		53	77	53	77	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907547	164907547	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:164907547G>A	ENST00000475390.1	-	2	1515	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P358S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	358					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P358S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCAATGGGAGGCTGGTTTGGA	0.498										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1072-1074)CCT>TCT		slit and trk like 3 protein precursor							274.0	291.0	285.0					3																	164907547		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907547G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1072C>T	3.37:g.164907547G>A	ENSP00000420091:p.Pro358Ser	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.P358S	p.P358S	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1516	-			358			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1072C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	8.978	0.974586	0.18736	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53857	0.6;0.6	5.6	5.6	0.85130	.	0.000000	0.34002	N	0.004351	T	0.41026	0.1141	L	0.33137	0.985	0.58432	D	0.999996	B	0.33826	0.427	B	0.32211	0.142	T	0.22382	-1.0218	10	0.14656	T	0.56	-12.4094	15.9323	0.79672	0.0:0.135:0.865:0.0	.	358	O94933	SLIK3_HUMAN	S	358	ENSP00000420091:P358S;ENSP00000241274:P358S	ENSP00000241274:P358S	P	-	1	0	SLITRK3	166390241	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.564000	0.73969	2.662000	0.90505	0.655000	0.94253	CCT		PASS	0.498	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		112	800	112	800	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167246922	167246922	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:167246922G>C	ENST00000308378.3	-	10	1573	c.1268C>G	c.(1267-1269)tCg>tGg	p.S423W	WDR49_ENST00000453925.2_Missense_Mutation_p.S487W|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.S248W	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	423								p.S423W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATAATAATCGATCCAACTCC	0.363																																						uc003fev.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1267-1269)TCG>TGG		WD repeat domain 49							99.0	96.0	97.0					3																	167246922		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167246922G>C	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1268C>G	3.37:g.167246922G>C	ENSP00000311343:p.Ser423Trp					WDR49_uc003feu.1_Missense_Mutation_p.S248W|WDR49_uc011bpd.1_Missense_Mutation_p.S487W|WDR49_uc003few.1_Intron	p.S423W	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			10	1574	-			423			WD 7.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1268C>G	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.87|11.87	1.767664|1.767664	0.31320|0.31320	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600;ENST00000493061|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.41065	.|1.3;1.01;2.22	5.7|5.7	4.81|4.81	0.61882|0.61882	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.652897	.|0.16216	.|N	.|0.224273	T|T	0.74520|0.74520	0.3727|0.3727	H|H	0.95187|0.95187	3.635|3.635	0.36746|0.36746	D|D	0.882473|0.882473	.|D;D	.|0.89917	.|1.0;0.998	.|D;P	.|0.72982	.|0.979;0.818	D|D	0.84666|0.84666	0.0709|0.0709	5|10	.|0.72032	.|D	.|0.01	.|.	14.7289|14.7289	0.69365|0.69365	0.0:0.0:0.8539:0.1461|0.0:0.0:0.8539:0.1461	.|.	.|487;423	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	G|W	499;61|423;248;487	.|ENSP00000311343:S423W;ENSP00000420508:S248W;ENSP00000410863:S487W	.|ENSP00000311343:S423W	R|S	-|-	1|2	2|0	WDR49|WDR49	168729616|168729616	0.996000|0.996000	0.38824|0.38824	0.302000|0.302000	0.25058|0.25058	0.025000|0.025000	0.11179|0.11179	3.483000|3.483000	0.53194|0.53194	1.356000|1.356000	0.45884|0.45884	0.563000|0.563000	0.77884|0.77884	CGA|TCG		PASS	0.363	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		40	220	40	220	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039232	184039232	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:184039232G>A	ENST00000346169.2	+	10	1131	c.860G>A	c.(859-861)gGg>gAg	p.G287E	EIF4G1_ENST00000414031.1_Missense_Mutation_p.G247E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G294E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G200E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G91E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G294E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G247E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G287E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G294E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G123E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G200E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G123E|EIF4G1_ENST00000342981.4_Missense_Mutation_p.G287E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G91E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	287					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G287E(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTATTCCTGGGGACACTATG	0.542																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(859-861)GGG>GAG		eukaryotic translation initiation factor 4							46.0	50.0	49.0					3																	184039232		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039232G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.860G>A	3.37:g.184039232G>A	ENSP00000316879:p.Gly287Glu					EIF4G1_uc003fno.1_Missense_Mutation_p.G228E|EIF4G1_uc010hxw.1_Missense_Mutation_p.G123E|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.G200E|EIF4G1_uc003fnr.2_Missense_Mutation_p.G123E|EIF4G1_uc010hxx.2_Missense_Mutation_p.G294E|EIF4G1_uc003fns.2_Missense_Mutation_p.G247E|EIF4G1_uc010hxy.2_Missense_Mutation_p.G294E|EIF4G1_uc003fnv.3_Missense_Mutation_p.G287E|EIF4G1_uc003fnu.3_Missense_Mutation_p.G287E|EIF4G1_uc003fnw.2_Missense_Mutation_p.G294E|EIF4G1_uc003fnx.2_Missense_Mutation_p.G91E|EIF4G1_uc003fny.3_Missense_Mutation_p.G91E	p.G287E	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1058	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		287					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.860G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.137801	0.37728	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	4.18;4.18;4.09;1.06;3.07;3.07;4.18;3.24;4.02;4.18;4.08;4.19;4.18;4.18;4.19;2.67;4.01;1.05;3.99;0.99;1.64;3.98	5.5	3.68	0.42216	.	0.751444	0.13088	N	0.414783	T	0.35566	0.0936	N	0.12182	0.205	0.32898	D	0.512738	B;D;D;B	0.89917	0.02;1.0;1.0;0.02	B;D;D;B	0.83275	0.012;0.996;0.996;0.012	T	0.38308	-0.9667	10	0.02654	T	1	-21.163	5.1954	0.15233	0.1704:0.0:0.6646:0.165	.	294;287;287;294	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	E	287;247;200;91;287;294;294;228;123;294;200;287;287;294;247;123;123;91;91;91;91;91	ENSP00000316879:G287E;ENSP00000391935:G247E;ENSP00000376320:G200E;ENSP00000407244:G91E;ENSP00000391412:G287E;ENSP00000413159:G294E;ENSP00000371767:G294E;ENSP00000403269:G228E;ENSP00000317600:G123E;ENSP00000338020:G294E;ENSP00000407682:G200E;ENSP00000343450:G287E;ENSP00000323737:G287E;ENSP00000416255:G294E;ENSP00000395974:G247E;ENSP00000398145:G123E;ENSP00000399858:G123E;ENSP00000411707:G91E;ENSP00000411826:G91E;ENSP00000409545:G91E;ENSP00000399969:G91E;ENSP00000404754:G91E	ENSP00000323737:G287E	G	+	2	0	EIF4G1	185521926	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.337000	0.43947	1.551000	0.49450	0.655000	0.94253	GGG		PASS	0.542	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		82	265	82	265	---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184075171	184075171	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:184075171C>T	ENST00000265593.4	-	8	1048	c.877G>A	c.(877-879)Gca>Aca	p.A293T	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.A293T|CLCN2_ENST00000434054.2_Missense_Mutation_p.A249T|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.A293T|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	293					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.A293T(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTCCAGACTGCCAAGACCCGG	0.637																																						uc003foi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(877-879)GCA>ACA		chloride channel 2	Lubiprostone(DB01046)						63.0	72.0	69.0					3																	184075171		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184075171C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.877G>A	3.37:g.184075171C>T	ENSP00000265593:p.Ala293Thr					CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A293T|CLCN2_uc011brl.1_Missense_Mutation_p.A293T|CLCN2_uc011brm.1_Missense_Mutation_p.A249T|CLCN2_uc011brn.1_Missense_Mutation_p.A293T	p.A293T	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1001	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		293			Helical; (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.877G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	28.8	4.954041	0.92660	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.66	5.66	0.87406	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;1.0	D;D;D;D;D	0.97110	0.98;1.0;0.988;0.945;0.995	D	0.96593	0.9439	10	0.72032	D	0.01	-13.1277	18.5315	0.90993	0.0:1.0:0.0:0.0	.	293;249;293;293;293	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	T	293;293;249;293	ENSP00000265593:A293T;ENSP00000345056:A293T;ENSP00000400425:A249T;ENSP00000391928:A293T	ENSP00000265593:A293T	A	-	1	0	CLCN2	185557865	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.030000	0.70903	2.666000	0.90696	0.655000	0.94253	GCA		PASS	0.637	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			143	495	143	495	---	---	---	---
OSTN	344901	broad.mit.edu	37	3	190936711	190936711	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr3:190936711G>C	ENST00000339051.1	+	2	278	c.278G>C	c.(277-279)aGa>aCa	p.R93T	OSTN_ENST00000445281.1_Missense_Mutation_p.R93T|OSTN-AS1_ENST00000430375.1_RNA	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	93					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)		p.R93T(1)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CCCCTTGACAGACTCTCAGCT	0.373																																						uc011bsn.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(277-279)AGA>ACA		osteocrin precursor							92.0	93.0	93.0					3																	190936711		2203	4300	6503	SO:0001583	missense	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190936711G>C	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.278G>C	3.37:g.190936711G>C	ENSP00000342356:p.Arg93Thr						p.R93T	NM_198184	NP_937827	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	2	278	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		93					A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	c.278G>C	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377235	0.82682	.	.	ENSG00000188729	ENST00000445281;ENST00000339051	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	M	0.63843	1.955	0.48511	D	0.999667	D	0.89917	1.0	D	0.87578	0.998	T	0.79415	-0.1813	9	0.87932	D	0	-16.9707	18.7642	0.91865	0.0:0.0:1.0:0.0	.	93	P61366	OSTN_HUMAN	T	93	.	ENSP00000342356:R93T	R	+	2	0	OSTN	192419405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.308000	0.78929	2.687000	0.91594	0.561000	0.74099	AGA		PASS	0.373	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		60	452	60	452	---	---	---	---
POLN	353497	broad.mit.edu	37	4	2074721	2074721	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:2074721C>G	ENST00000511885.2	-	25	2844	c.2491G>C	c.(2491-2493)Gtg>Ctg	p.V831L	POLN_ENST00000382865.1_Missense_Mutation_p.V831L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	831					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.V831L(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AATGCCTGCACCTGTTCCAAG	0.632								DNA polymerases (catalytic subunits)																														uc003ger.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|ovary(1)|skin(1)	4						c.(2491-2493)GTG>CTG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							89.0	80.0	83.0					4																	2074721		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2074721C>G	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2491G>C	4.37:g.2074721C>G	ENSP00000435506:p.Val831Leu					POLN_uc010icg.1_Splice_Site_p.Q278_splice	p.V831L	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		23	2491	-			831					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.2491G>C	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.401|2.401	-0.337632|-0.337632	0.05278|0.05278	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511098;ENST00000253313|ENST00000511885;ENST00000382865	.|D;D	.|0.95853	.|-3.83;-3.83	4.09|4.09	2.28|2.28	0.28536|0.28536	.|DNA-directed DNA polymerase, family A, palm domain (1);	.|0.799140	.|0.10743	.|N	.|0.639208	.|D	.|0.90068	.|0.6898	L|L	0.28014|0.28014	0.82|0.82	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.17979	.|0.02	.|T	.|0.82600	.|-0.0377	.|10	.|0.66056	.|D	.|0.02	.|-1.9358	4.9177|4.9177	0.13854|0.13854	0.0:0.6597:0.2215:0.1188|0.0:0.6597:0.2215:0.1188	.|.	.|831	.|Q7Z5Q5	.|DPOLN_HUMAN	.|L	-1|831	.|ENSP00000435506:V831L;ENSP00000372316:V831L	.|ENSP00000372316:V831L	.|V	-|-	.|1	.|0	POLN|POLN	2044519|2044519	0.000000|0.000000	0.05858|0.05858	0.012000|0.012000	0.15200|0.15200	0.076000|0.076000	0.17211|0.17211	-0.596000|-0.596000	0.05720|0.05720	1.031000|1.031000	0.39867|0.39867	0.561000|0.561000	0.74099|0.74099	.|GTG		PASS	0.632	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		29	110	29	110	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13603626	13603626	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:13603626A>G	ENST00000040738.5	-	10	5033	c.4898T>C	c.(4897-4899)gTg>gCg	p.V1633A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1633						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1633A(1)									AACTGCATGCACAGCCAGTAG	0.468																																						uc003gmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(4897-4899)GTG>GCG		biorientation of chromosomes in cell division							144.0	147.0	146.0					4																	13603626		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603626A>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4898T>C	4.37:g.13603626A>G	ENSP00000040738:p.Val1633Ala					BOD1L_uc010idr.1_Missense_Mutation_p.V970A	p.V1633A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5015	-			1633					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4898T>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.906361	0.00057	.	.	ENSG00000038219	ENST00000040738	T	0.05649	3.41	4.8	2.81	0.32909	.	0.823628	0.10660	N	0.648839	T	0.01800	0.0057	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45977	-0.9224	10	0.02654	T	1	-0.7335	4.5613	0.12161	0.262:0.0:0.5264:0.2116	.	1633	Q8NFC6	BOD1L_HUMAN	A	1633	ENSP00000040738:V1633A	ENSP00000040738:V1633A	V	-	2	0	BOD1L	13212724	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.654000	0.24918	0.390000	0.25115	-0.375000	0.07067	GTG		PASS	0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		55	196	55	196	---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16597384	16597384	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:16597384G>T	ENST00000304523.5	-	3	673	c.350C>A	c.(349-351)aCg>aAg	p.T117K	LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000502640.1_Missense_Mutation_p.T117K|LDB2_ENST00000515064.1_Missense_Mutation_p.T117K|LDB2_ENST00000441778.2_Missense_Mutation_p.T117K|LDB2_ENST00000503178.2_5'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	117					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.T117K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCAGTCCACCGTGATGGATGA	0.517																																						uc003goz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(349-351)ACG>AAG		LIM domain binding 2 isoform a							174.0	140.0	152.0					4																	16597384		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16597384G>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.350C>A	4.37:g.16597384G>T	ENSP00000306772:p.Thr117Lys					LDB2_uc003gpa.2_Missense_Mutation_p.T117K|LDB2_uc003gpb.2_Missense_Mutation_p.T117K|LDB2_uc011bxh.1_Missense_Mutation_p.T117K|LDB2_uc010iee.2_Missense_Mutation_p.T117K|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	p.T117K	NM_001290	NP_001281	O43679	LDB2_HUMAN			3	666	-			117					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.350C>A	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810802	0.90707	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.82517	2.595	0.80722	D	1	D;D;P;P;P	0.69078	0.997;0.983;0.929;0.929;0.897	D;P;P;P;P	0.79784	0.993;0.87;0.765;0.686;0.801	T	0.79063	-0.1957	9	0.22706	T	0.39	-16.4464	18.9634	0.92685	0.0:0.0:1.0:0.0	.	83;117;117;117;117	B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;.;LDB2_HUMAN	K	117;117;117;117;93	.	ENSP00000306772:T117K	T	-	2	0	LDB2	16206482	1.000000	0.71417	0.975000	0.42487	0.984000	0.73092	9.420000	0.97426	2.793000	0.96121	0.563000	0.77884	ACG		PASS	0.517	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			74	88	74	88	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	31144317	31144317	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:31144317T>A	ENST00000543491.1	+	3	3614	c.3614T>A	c.(3613-3615)cTg>cAg	p.L1205Q				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1150Q(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGAAACCTCCTGAACAAAAAG	0.493																																						uc011bxx.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3589-3591)CTG>CAG		protocadherin 7 isoform a precursor							107.0	106.0	106.0					4																	31144317		1918	4128	6046	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144317T>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3614T>A	4.37:g.31144317T>A	ENSP00000441802:p.Leu1205Gln					PCDH7_uc011bxw.1_Missense_Mutation_p.L1150Q	p.L1197Q	NM_002589	NP_002580	O60245	PCDH7_HUMAN			3	4598	+			Error:Variant_position_missing_in_O60245_after_alignment					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	c.3590T>A	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912134	0.72983	.	.	ENSG00000169851	ENST00000543491;ENST00000333135	T	0.54071	0.59	5.87	5.87	0.94306	.	.	.	.	.	T	0.58293	0.2112	N	0.14661	0.345	0.58432	D	0.999992	D;D	0.76494	0.997;0.999	P;D	0.87578	0.901;0.998	T	0.64462	-0.6402	9	0.59425	D	0.04	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	1205;1150	F5GWJ1;O60245-3	.;.	Q	1205;1150	ENSP00000441802:L1205Q	ENSP00000330302:L1150Q	L	+	2	0	PCDH7	30753415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	CTG		PASS	0.493	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		68	157	68	157	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38022223	38022223	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:38022223C>T	ENST00000261439.4	+	5	1339	c.984C>T	c.(982-984)caC>caT	p.H328H	TBC1D1_ENST00000508802.1_Silent_p.H328H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	328	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.H328H(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCATCAGACACGTGGACCACT	0.483																																						uc003gtb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(982-984)CAC>CAT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							287.0	273.0	278.0					4																	38022223		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38022223C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.984C>T	4.37:g.38022223C>T						TBC1D1_uc011byd.1_Silent_p.H328H|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.H199H	p.H328H	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			5	1327	+			328			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.984C>T	CCDS33972.1																																																																																				PASS	0.483	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		162	345	162	345	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46043132	46043132	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:46043132G>T	ENST00000295452.4	-	9	1438	c.1271C>A	c.(1270-1272)aCa>aAa	p.T424K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	424					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T424K(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCAAGATCCTGTTCTGCAGTC	0.413																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1270-1272)ACA>AAA		gamma-aminobutyric acid A receptor, gamma 1							124.0	126.0	125.0					4																	46043132		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043132G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1271C>A	4.37:g.46043132G>T	ENSP00000295452:p.Thr424Lys						p.T424K	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1423	-			424			Cytoplasmic (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1271C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483391	0.26598	.	.	ENSG00000163285	ENST00000295452	D	0.82803	-1.65	5.49	5.49	0.81192	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.237063	0.44097	D	0.000481	T	0.69806	0.3152	N	0.11560	0.145	0.42812	D	0.99396	B	0.20671	0.047	B	0.22601	0.04	T	0.65434	-0.6169	10	0.12766	T	0.61	.	18.356	0.90357	0.0:0.0:1.0:0.0	.	424	Q8N1C3	GBRG1_HUMAN	K	424	ENSP00000295452:T424K	ENSP00000295452:T424K	T	-	2	0	GABRG1	45737889	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.779000	0.85648	2.580000	0.87095	0.585000	0.79938	ACA		PASS	0.413	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		48	94	48	94	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48572902	48572902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:48572902G>A	ENST00000503238.1	-	24	2937	c.2938C>T	c.(2938-2940)Cga>Tga	p.R980*	FRYL_ENST00000358350.4_Nonsense_Mutation_p.R980*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.R980*|FRYL_ENST00000507711.1_Nonsense_Mutation_p.R980*|FRYL_ENST00000264319.7_De_novo_Start_OutOfFrame			O94915	FRYL_HUMAN	FRY-like	980					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R980*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTTGTACTCGTAAAATGTCT	0.388																																						uc003gyh.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2938-2940)CGA>TGA		furry-like							107.0	102.0	104.0					4																	48572902		1909	4116	6025	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48572902G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2938C>T	4.37:g.48572902G>A	ENSP00000426064:p.Arg980*					FRYL_uc003gyk.2_Nonsense_Mutation_p.R980*	p.R980*	NM_015030	NP_055845	O94915	FRYL_HUMAN			27	3543	-			980					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.2938C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	46	12.487451	0.99672	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	X	980	.	ENSP00000351113:R980X	R	-	1	2	FRYL	48267659	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.620000	0.54203	2.652000	0.90054	0.655000	0.94253	CGA		PASS	0.388	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			36	120	36	120	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69795618	69795618	+	Silent	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:69795618C>G	ENST00000251566.4	-	6	1527	c.1497G>C	c.(1495-1497)gtG>gtC	p.V499V	UGT2A3_ENST00000420231.2_Silent_p.V210V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	499					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V499V(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAGCAGTTGCCACACAGGCCA	0.413																																						uc003hef.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1495-1497)GTG>GTC		UDP glucuronosyltransferase 2 family,							60.0	60.0	60.0					4																	69795618		2203	4300	6503	SO:0001819	synonymous_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795618C>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1497G>C	4.37:g.69795618C>G						UGT2A3_uc010ihp.1_RNA	p.V499V	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			6	1528	-			499			Helical; (Potential).		Q9H6S4	Silent	SNP	ENST00000251566.4	37	c.1497G>C	CCDS3525.1																																																																																				PASS	0.413	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		33	96	33	96	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73184414	73184414	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:73184414C>A	ENST00000286657.4	-	10	1396	c.1360G>T	c.(1360-1362)Gac>Tac	p.D454Y		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	454	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D454Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGAGACAGTCATAGGAACTG	0.328																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1360-1362)GAC>TAC		ADAM metallopeptidase with thrombospondin type 1							83.0	77.0	79.0					4																	73184414		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73184414C>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1360G>T	4.37:g.73184414C>A	ENSP00000286657:p.Asp454Tyr						p.D454Y	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		10	1397	-			454			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1360G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682284	0.88542	.	.	ENSG00000156140	ENST00000286657	T	0.63744	-0.06	5.83	5.83	0.93111	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	L	0.48218	1.51	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68002	-0.5524	10	0.25751	T	0.34	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	454	O15072	ATS3_HUMAN	Y	454	ENSP00000286657:D454Y	ENSP00000286657:D454Y	D	-	1	0	ADAMTS3	73403278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.770000	0.95276	0.655000	0.94253	GAC		PASS	0.328	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			27	60	27	60	---	---	---	---
AFP	174	broad.mit.edu	37	4	74316386	74316386	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:74316386G>A	ENST00000395792.2	+	11	1444	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	AFP_ENST00000226359.2_Missense_Mutation_p.M448I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	448	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.M448I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGGAGCTGATGGCCATCACCA	0.512									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)ATG>ATA		alpha-fetoprotein precursor							92.0	84.0	86.0					4																	74316386		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74316386G>A	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1344G>A	4.37:g.74316386G>A	ENSP00000379138:p.Met448Ile					AFP_uc003hha.1_Missense_Mutation_p.M448I|AFP_uc011cbg.1_Missense_Mutation_p.M222I	p.M448I	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1391	+	Breast(15;0.00102)		448			Albumin 3.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.1344G>A	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.161990	0.00318	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.71934	-0.61;-0.61	4.85	-5.95	0.02241	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.407072	0.26103	N	0.026338	T	0.24736	0.0600	N	0.00793	-1.18	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43956	-0.9359	10	0.12430	T	0.62	.	2.4919	0.04612	0.4635:0.2355:0.1912:0.1098	.	290;448	B4DMX4;P02771	.;FETA_HUMAN	I	448	ENSP00000379138:M448I;ENSP00000226359:M448I	ENSP00000226359:M448I	M	+	3	0	AFP	74535250	0.000000	0.05858	0.007000	0.13788	0.155000	0.21991	-0.842000	0.04354	-1.158000	0.02811	-0.136000	0.14681	ATG		PASS	0.512	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			31	67	31	67	---	---	---	---
CXCL2	2920	broad.mit.edu	37	4	74964371	74964371	+	Silent	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:74964371A>G	ENST00000508487.2	-	3	427	c.255T>C	c.(253-255)tgT>tgC	p.C85C	CXCL2_ENST00000296031.4_5'UTR	NM_002089.3	NP_002080.1	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	85					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to molecule of bacterial origin (GO:0002237)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.C85C(1)		lung(1)	1	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			CGGGGTTGAGACAAGCTTTCT	0.507																																						uc003hhm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)TGT>TGC		chemokine (C-X-C motif) ligand 2							132.0	127.0	129.0					4																	74964371		2203	4300	6503	SO:0001819	synonymous_variant	2920				chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity	g.chr4:74964371A>G	M36820	CCDS34008.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000081041		"""Endogenous ligands"""	4603	protein-coding gene	gene with protein product		139110	"""GRO2 oncogene"""	GRO2		2217207	Standard	NM_002089		Approved	SCYB2, GROb, MIP-2a, MGSA-b, CINC-2a	uc003hhm.4	P19875		ENST00000508487.2:c.255T>C	4.37:g.74964371A>G							p.C85C	NM_002089	NP_002080	P19875	CXCL2_HUMAN	all cancers(17;0.00317)|Lung(101;0.196)		3	415	-	Breast(15;0.00612)		85					Q6FGD6|Q9UPB8	Silent	SNP	ENST00000508487.2	37	c.255T>C	CCDS34008.1																																																																																				PASS	0.507	CXCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362731.2	NM_002089		73	153	73	153	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94031943	94031943	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:94031943G>A	ENST00000282020.4	+	4	832	c.574G>A	c.(574-576)Gga>Aga	p.G192R	GRID2_ENST00000510992.1_Missense_Mutation_p.G97R|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	192					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.G192R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTCTCAGCAGGGAATGGATGT	0.398																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(574-576)GGA>AGA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						157.0	161.0	159.0					4																	94031943		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94031943G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.574G>A	4.37:g.94031943G>A	ENSP00000282020:p.Gly192Arg					GRID2_uc010ikx.2_Missense_Mutation_p.G192R|GRID2_uc011cdu.1_Missense_Mutation_p.G97R|GRID2_uc011cdv.1_RNA	p.G192R	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	4	832	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	192			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.574G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001395	0.93227	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.91521	-2.86;-2.21	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93693	0.7985	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.91989	0.5601	10	0.33141	T	0.24	.	19.7485	0.96259	0.0:0.0:1.0:0.0	.	97;192;133	E9PH24;O43424;B4DYB9	.;GRID2_HUMAN;.	R	192;97	ENSP00000282020:G192R;ENSP00000421257:G97R	ENSP00000282020:G192R	G	+	1	0	GRID2	94250966	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.416000	0.97383	2.742000	0.94016	0.655000	0.94253	GGA		PASS	0.398	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			87	155	87	155	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94159546	94159546	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:94159546G>A	ENST00000282020.4	+	8	1408	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	GRID2_ENST00000510992.1_Missense_Mutation_p.E289K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	384					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.E384K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GTTGACTGGAGAGCTAGAATT	0.373																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1150-1152)GAG>AAG		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						95.0	95.0	95.0					4																	94159546		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94159546G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1150G>A	4.37:g.94159546G>A	ENSP00000282020:p.Glu384Lys					GRID2_uc011cdu.1_Missense_Mutation_p.E289K|GRID2_uc010ikz.1_Missense_Mutation_p.E65K	p.E384K	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	8	1408	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	384			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1150G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429754	0.43122	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	D;D;D	0.83755	-1.76;-1.76;-1.76	6.03	6.03	0.97812	Extracellular ligand-binding receptor (1);	0.777423	0.12732	N	0.443775	T	0.70272	0.3205	N	0.08118	0	0.29261	N	0.871332	B;B;B	0.26975	0.033;0.033;0.165	B;B;B	0.28385	0.017;0.017;0.089	T	0.51545	-0.8692	10	0.06625	T	0.88	.	20.1857	0.98214	0.0:0.0:1.0:0.0	.	289;384;289	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	K	384;289;65	ENSP00000282020:E384K;ENSP00000421257:E289K;ENSP00000423331:E65K	ENSP00000282020:E384K	E	+	1	0	GRID2	94378569	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.387000	0.52501	2.868000	0.98415	0.557000	0.71058	GAG		PASS	0.373	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			41	69	41	69	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115891646	115891646	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:115891646G>T	ENST00000264363.2	-	4	1839	c.1161C>A	c.(1159-1161)caC>caA	p.H387Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	387	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.H387Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGGAAGAGGTGGGGCTGCA	0.433																																						uc003ibu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1159-1161)CAC>CAA		heparan sulfate N-deacetylase/N-sulfotransferase							128.0	115.0	119.0					4																	115891646		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115891646G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1161C>A	4.37:g.115891646G>T	ENSP00000264363:p.His387Gln					NDST4_uc010imw.2_RNA	p.H387Q	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	4	1840	-		Ovarian(17;0.156)	387			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1161C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665514	0.67700	.	.	ENSG00000138653	ENST00000264363	T	0.51574	0.7	5.79	-0.992	0.10232	.	0.088809	0.85682	D	0.000000	T	0.70962	0.3284	M	0.92122	3.275	0.53005	D	0.999966	D	0.89917	1.0	D	0.85130	0.997	T	0.75190	-0.3405	10	0.87932	D	0	.	11.5381	0.50651	0.6595:0.0:0.3405:0.0	.	387	Q9H3R1	NDST4_HUMAN	Q	387	ENSP00000264363:H387Q	ENSP00000264363:H387Q	H	-	3	2	NDST4	116111095	0.346000	0.24844	0.996000	0.52242	0.989000	0.77384	-0.166000	0.09954	-0.117000	0.11872	-0.186000	0.12905	CAC		PASS	0.433	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		23	61	23	61	---	---	---	---
NDNF	79625	broad.mit.edu	37	4	121966948	121966948	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:121966948G>A	ENST00000379692.4	-	2	571	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	15					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.L15L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCCTTGAGCTGAGTGGAAACA	0.498																																						uc003idq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(43-45)CTC>CTT		hypothetical protein LOC79625 precursor							40.0	43.0	42.0					4																	121966948		1987	4181	6168	SO:0001819	synonymous_variant	79625							g.chr4:121966948G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.45C>T	4.37:g.121966948G>A							p.L15L	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			2	572	-			15					A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.45C>T	CCDS3717.2																																																																																				PASS	0.498	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		20	54	20	54	---	---	---	---
PRMT9	90826	broad.mit.edu	37	4	148559801	148559801	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:148559801G>C	ENST00000322396.6	-	12	2662	c.2420C>G	c.(2419-2421)tCc>tGc	p.S807C	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.S694C	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		807	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.S807C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTTCCAGTGGGAGGCTTCACT	0.408																																						uc003ilc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2419-2421)TCC>TGC		protein arginine methyltransferase 10							129.0	114.0	119.0					4																	148559801		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148559801G>C																												ENST00000322396.6:c.2420C>G	4.37:g.148559801G>C	ENSP00000314396:p.Ser807Cys					PRMT10_uc003ilb.2_Missense_Mutation_p.S451C|PRMT10_uc003ild.2_Missense_Mutation_p.S694C	p.S807C	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			12	2562	-			807					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.2420C>G	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800744	0.90538	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.23147	1.92;1.92	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58340	-0.7653	10	0.72032	D	0.01	-17.5581	19.4767	0.94992	0.0:0.0:1.0:0.0	.	807	Q6P2P2	ANM10_HUMAN	C	807;694	ENSP00000314396:S807C;ENSP00000439508:S694C	ENSP00000314396:S807C	S	-	2	0	PRMT10	148779251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.133000	0.94460	2.601000	0.87937	0.563000	0.77884	TCC		PASS	0.408	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			54	110	54	110	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		139	Substitution - Missense(138)|Unknown(1)	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1513-1515)CGC>GGC		F-box and WD repeat domain containing 7 isoform							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	p.R505G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1662	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).	WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		PASS	0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			86	180	86	180	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155219786	155219786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:155219786C>A	ENST00000357232.4	-	18	4314	c.4315G>T	c.(4315-4317)Gag>Tag	p.E1439*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1439	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1439*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGATTTGCTCCCGGTCCAAA	0.413																																						uc003inw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(4315-4317)GAG>TAG		dachsous 2 isoform 1							97.0	101.0	100.0					4																	155219786		2203	4300	6503	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219786C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4315G>T	4.37:g.155219786C>A	ENSP00000349768:p.Glu1439*						p.E1439*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4315	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1439			Cadherin 12.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.4315G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	44	10.994737	0.99500	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	X	1439	.	ENSP00000349768:E1439X	E	-	1	0	DCHS2	155439236	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.944000	0.75940	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.413	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		53	109	53	109	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155312370	155312370	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:155312370T>C	ENST00000357232.4	-	1	79	c.80A>G	c.(79-81)gAt>gGt	p.D27G	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	27					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D27G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TACACAGGCATCAGTACTTTC	0.313																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(79-81)GAT>GGT		dachsous 2 isoform 1							189.0	166.0	174.0					4																	155312370		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155312370T>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.80A>G	4.37:g.155312370T>C	ENSP00000349768:p.Asp27Gly					DCHS2_uc003inx.2_Intron	p.D27G	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	1	80	-	all_hematologic(180;0.208)	Renal(120;0.0854)	27					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.80A>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	3.942	-0.014035	0.07681	.	.	ENSG00000197410	ENST00000357232	T	0.61392	0.11	2.94	1.74	0.24563	.	1.339500	0.05564	U	0.569750	T	0.36193	0.0958	N	0.08118	0	0.09310	N	1	B	0.25667	0.131	B	0.17433	0.018	T	0.32188	-0.9916	10	0.72032	D	0.01	.	5.4365	0.16484	0.2497:0.0:0.0:0.7503	.	27	Q6V1P9	PCD23_HUMAN	G	27	ENSP00000349768:D27G	ENSP00000349768:D27G	D	-	2	0	DCHS2	155531820	0.002000	0.14202	0.001000	0.08648	0.169000	0.22640	0.527000	0.22987	0.512000	0.28257	-0.338000	0.08134	GAT		PASS	0.313	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		19	55	19	55	---	---	---	---
SAP30	8819	broad.mit.edu	37	4	174292541	174292541	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:174292541C>A	ENST00000296504.3	+	1	448	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	RP11-798M19.6_ENST00000609900.1_RNA|RP11-798M19.6_ENST00000608892.1_RNA|RP11-798M19.6_ENST00000609153.1_RNA|RP11-798M19.6_ENST00000608794.1_RNA	NM_003864.3	NP_003855.1			Sin3A-associated protein, 30kDa									p.R70R(1)		large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GTGCTGCCTGCGGGAGGATGG	0.741																																						uc003itd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(208-210)CGG>AGG		Sin3A-associated protein, 30kDa							20.0	21.0	20.0					4																	174292541		2166	4212	6378	SO:0001819	synonymous_variant	8819				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity	g.chr4:174292541C>A	AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"""sin3A-associated protein, 30kDa"""			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000296504.3:c.208C>A	4.37:g.174292541C>A							p.R70R	NM_003864	NP_003855	O75446	SAP30_HUMAN		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)	1	449	+		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	70			Interaction with NCOR1 (By similarity).|Atypical.			Silent	SNP	ENST00000296504.3	37	c.208C>A	CCDS3817.1																																																																																				PASS	0.741	SAP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362360.1	NM_003864		17	36	17	36	---	---	---	---
AGA	175	broad.mit.edu	37	4	178355561	178355561	+	Missense_Mutation	SNP	C	C	T	rs140337260		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:178355561C>T	ENST00000264595.2	-	7	908	c.781G>A	c.(781-783)Gat>Aat	p.D261N	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	261					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.D261N(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		ATCAATATATCACCATTCCCA	0.428																																						uc003iuu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)GAT>AAT		aspartylglucosaminidase precursor		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	124.0	122.0	123.0		781,751	5.7	0.1	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AGA	NM_000027.3,NM_001171988.1	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	261/347,251/337	178355561	1,13005	2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178355561C>T	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.781G>A	4.37:g.178355561C>T	ENSP00000264595:p.Asp261Asn					AGA_uc010irt.1_RNA|AGA_uc003iuv.1_3'UTR	p.D261N	NM_000027	NP_000018	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	7	843	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	261					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.781G>A	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984135	0.74474	0.0	1.16E-4	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.89196	-2.48;-2.48	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97256	0.9901	10	0.87932	D	0	-25.0685	19.3909	0.94583	0.0:1.0:0.0:0.0	.	261	P20933	ASPG_HUMAN	N	261;118	ENSP00000264595:D261N;ENSP00000423798:D118N	ENSP00000264595:D261N	D	-	1	0	AGA	178592555	1.000000	0.71417	0.077000	0.20336	0.116000	0.19942	7.350000	0.79385	2.695000	0.91970	0.650000	0.86243	GAT		PASS	0.428	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		58	119	58	119	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187539606	187539606	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:187539606C>G	ENST00000441802.2	-	10	8343	c.8134G>C	c.(8134-8136)Gtg>Ctg	p.V2712L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2712	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2715L(1)|p.V2712L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCTCTGACACTGTAAAGGTA	0.423										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8134-8136)GTG>CTG		FAT tumor suppressor 1 precursor							127.0	126.0	127.0					4																	187539606		1871	4095	5966	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539606C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8134G>C	4.37:g.187539606C>G	ENSP00000406229:p.Val2712Leu	HNSCC(5;0.00058)					p.V2712L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8322	-			2712			Extracellular (Potential).|Cadherin 25.			Missense_Mutation	SNP	ENST00000441802.2	37	c.8134G>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	0.476	-0.882343	0.02530	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.55234	0.53	5.0	2.14	0.27477	Cadherin (3);Cadherin-like (1);	0.388572	0.28624	N	0.014698	T	0.41971	0.1182	M	0.64080	1.96	0.19775	N	0.99995	B	0.06786	0.001	B	0.09377	0.004	T	0.26360	-1.0105	10	0.22706	T	0.39	.	4.7126	0.12880	0.0:0.4994:0.1496:0.351	.	2712	Q14517	FAT1_HUMAN	L	2712;2714	ENSP00000406229:V2712L	ENSP00000260147:V2714L	V	-	1	0	FAT1	187776600	0.046000	0.20272	0.087000	0.20705	0.174000	0.22865	0.429000	0.21412	0.311000	0.23014	0.655000	0.94253	GTG		PASS	0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		64	182	64	182	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187539651	187539651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr4:187539651C>A	ENST00000441802.2	-	10	8298	c.8089G>T	c.(8089-8091)Gaa>Taa	p.E2697*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2697	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2700*(2)|p.E2697*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCTGCATTTCCGGTGGAAGG	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			4	Substitution - Nonsense(4)		lung(2)|endometrium(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8089-8091)GAA>TAA		FAT tumor suppressor 1 precursor							113.0	114.0	114.0					4																	187539651		1846	4085	5931	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539651C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8089G>T	4.37:g.187539651C>A	ENSP00000406229:p.Glu2697*	HNSCC(5;0.00058)					p.E2697*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8277	-			2697			Extracellular (Potential).|Cadherin 24.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8089G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	47	13.831360	0.99765	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.09	4.25	0.50352	.	0.048710	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	14.1861	0.65607	0.0:0.9277:0.0:0.0723	.	.	.	.	X	2697;2699	.	ENSP00000260147:E2699X	E	-	1	0	FAT1	187776645	1.000000	0.71417	0.105000	0.21289	0.032000	0.12392	7.651000	0.83577	1.509000	0.48786	0.655000	0.94253	GAA		PASS	0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		59	161	59	161	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5182325	5182325	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:5182325A>T	ENST00000274181.7	+	4	808	c.670A>T	c.(670-672)Agg>Tgg	p.R224W	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R224W	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	224					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R224W(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGTGACCTCAAGGACATGGGA	0.577																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(670-672)AGG>TGG		ADAM metallopeptidase with thrombospondin type 1							65.0	68.0	67.0					5																	5182325		2042	4187	6229	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5182325A>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.670A>T	5.37:g.5182325A>T	ENSP00000274181:p.Arg224Trp					ADAMTS16_uc003jdk.1_Missense_Mutation_p.R224W|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R224W	p.R224W	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			4	808	+			224					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.670A>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734074	0.69189	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.63417	0.06;-0.04	5.37	1.27	0.21489	.	0.589034	0.17369	N	0.176738	T	0.63224	0.2493	L	0.60455	1.87	0.09310	N	1	D;D;P	0.55800	0.973;0.969;0.948	P;P;P	0.52424	0.624;0.698;0.502	T	0.54450	-0.8292	10	0.59425	D	0.04	.	7.0963	0.25311	0.6474:0.2767:0.0759:0.0	.	224;224;224	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	W	224	ENSP00000274181:R224W;ENSP00000421631:R224W	ENSP00000274181:R224W	R	+	1	2	ADAMTS16	5235325	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.010000	0.12743	0.306000	0.22856	0.528000	0.53228	AGG		PASS	0.577	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		47	196	47	196	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5462506	5462506	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:5462506G>A	ENST00000296564.7	+	13	3281	c.3059G>A	c.(3058-3060)aGc>aAc	p.S1020N		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1020					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.S1020N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAAGAAACCAGCTGTGGAGAC	0.502																																						uc003jdm.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(3058-3060)AGC>AAC		hypothetical protein LOC23379							100.0	102.0	101.0					5																	5462506		1987	4168	6155	SO:0001583	missense	23379							g.chr5:5462506G>A																												ENST00000296564.7:c.3059G>A	5.37:g.5462506G>A	ENSP00000296564:p.Ser1020Asn						p.S1020N	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	3281	+			1020					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3059G>A	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	g	7.886	0.731258	0.15507	.	.	ENSG00000164151	ENST00000296564	T	0.10099	2.91	4.08	-1.56	0.08532	.	1.416120	0.04499	N	0.380894	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38607	-0.9653	10	0.16896	T	0.51	-1.5712	2.0225	0.03512	0.308:0.2742:0.3142:0.1036	.	1020	Q9Y2F5	K0947_HUMAN	N	1020	ENSP00000296564:S1020N	ENSP00000296564:S1020N	S	+	2	0	KIAA0947	5515506	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.075000	0.03423	0.022000	0.15160	-2.144000	0.00337	AGC		PASS	0.502	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			50	310	50	310	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11199587	11199587	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:11199587C>T	ENST00000304623.8	-	11	2137	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.D559N|CTNND2_ENST00000359640.2_Missense_Mutation_p.D650N|CTNND2_ENST00000458100.2_Missense_Mutation_p.D217N|CTNND2_ENST00000503622.1_Missense_Mutation_p.D313N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	650					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D650N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCTCCAGGTCAGTCGTCTTG	0.428																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1948-1950)GAC>AAC		catenin (cadherin-associated protein), delta 2							142.0	143.0	142.0					5																	11199587		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11199587C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1948G>A	5.37:g.11199587C>T	ENSP00000307134:p.Asp650Asn					CTNND2_uc010itt.2_Missense_Mutation_p.D559N|CTNND2_uc011cmy.1_Missense_Mutation_p.D313N|CTNND2_uc011cmz.1_Missense_Mutation_p.D217N|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D217N	p.D650N	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			11	2093	-			650			ARM 4.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1948G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294970	0.95574	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84110	0.5400	M	0.66506	2.035	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.84708	0.0732	10	0.87932	D	0	-30.8748	20.0474	0.97616	0.0:1.0:0.0:0.0	.	313;217;650	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	N	650;650;559;217;313	ENSP00000307134:D650N;ENSP00000352661:D650N;ENSP00000426510:D559N;ENSP00000391155:D217N;ENSP00000426887:D313N	ENSP00000307134:D650N	D	-	1	0	CTNND2	11252587	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	7.484000	0.81180	2.722000	0.93159	0.655000	0.94253	GAC		PASS	0.428	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		262	212	262	212	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14374354	14374354	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:14374354G>A	ENST00000344204.4	+	19	3257	c.3233G>A	c.(3232-3234)cGg>cAg	p.R1078Q	TRIO_ENST00000537187.1_Missense_Mutation_p.R1078Q|TRIO_ENST00000509967.2_Missense_Mutation_p.R1029Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1078					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1078Q(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCCTTGCTCGGAGGAATGCA	0.453																																						uc003jff.2																			1	Substitution - Missense(1)	p.R1078G(1)	lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3232-3234)CGG>CAG		triple functional domain (PTPRF interacting)							110.0	98.0	102.0					5																	14374354		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14374354G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3233G>A	5.37:g.14374354G>A	ENSP00000339299:p.Arg1078Gln					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.R1029Q|TRIO_uc003jfh.1_Missense_Mutation_p.R727Q	p.R1078Q	NM_007118	NP_009049	O75962	TRIO_HUMAN			19	3239	+	Lung NSC(4;0.000742)		1078					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3233G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272255	0.80580	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.41400	1.0;1.0;1.0	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	L	0.56769	1.78	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.987;0.978	T	0.56038	-0.8045	10	0.33141	T	0.24	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	1029;1078;1078	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	Q	1078;1078;1029;765	ENSP00000339299:R1078Q;ENSP00000446348:R1078Q;ENSP00000445592:R1029Q	ENSP00000339299:R1078Q	R	+	2	0	TRIO	14427354	1.000000	0.71417	0.934000	0.37439	0.880000	0.50808	9.869000	0.99810	2.677000	0.91161	0.655000	0.94253	CGG		PASS	0.453	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		29	88	29	88	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23527437	23527438	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:23527437_23527438CC>AA	ENST00000296682.3	+	11	2422_2423	c.2240_2241CC>AA	c.(2239-2241)cCC>cAA	p.P747Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	747					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.P747Q(1)|p.P747H(1)|p.P747P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGAGAAGCCCTATGTCTGCA	0.584										HNSCC(3;0.000094)																												uc003jgo.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2239-2241)CCC>CAC|c.(2239-2241)CCC>CCA		PR domain containing 9																																				SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527437C>A|g.chr5:23527438C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	Exception_encountered	5.37:g.23527437_23527438delinsAA	ENSP00000296682:p.Pro747Gln	HNSCC(3;0.000094)					p.P747H|p.P747P	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2422|2423	+			747					B4DX22|Q27Q50	Missense_Mutation|Silent	SNP	ENST00000296682.3	37	c.2240C>A|c.2241C>A	CCDS43307.1																																																																																				PASS	0.584	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		206|208	210|211	206	210	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26915941	26915941	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:26915941G>A	ENST00000231021.4	-	3	492	c.320C>T	c.(319-321)aCa>aTa	p.T107I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T107I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATGTCTCCTGTATTTTCATC	0.398																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(319-321)ACA>ATA		cadherin 9, type 2 preproprotein							129.0	132.0	131.0					5																	26915941		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915941G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.320C>T	5.37:g.26915941G>A	ENSP00000231021:p.Thr107Ile					CDH9_uc010iug.2_Missense_Mutation_p.T107I	p.T107I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	489	-			107			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.320C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394062	0.83011	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.66280	-0.2;0.36	4.62	4.62	0.57501	Cadherin (5);Cadherin-like (1);	0.053992	0.64402	D	0.000001	D	0.87904	0.6295	H	0.99261	4.49	0.53688	D	0.999976	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.989	D	0.93242	0.6627	9	.	.	.	.	16.4099	0.83704	0.0:0.0:1.0:0.0	.	107;107	E7EPN0;Q9ULB4	.;CADH9_HUMAN	I	107	ENSP00000231021:T107I;ENSP00000426239:T107I	.	T	-	2	0	CDH9	26951698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.275000	0.75901	0.585000	0.79938	ACA		PASS	0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		179	551	179	551	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45462029	45462029	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:45462029G>A	ENST00000303230.4	-	3	987	c.930C>T	c.(928-930)caC>caT	p.H310H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	310					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.H310H(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AACCATCCCAGTGGCACAGGA	0.408																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(928-930)CAC>CAT		hyperpolarization activated cyclic							78.0	78.0	78.0					5																	45462029		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462029G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.930C>T	5.37:g.45462029G>A							p.H310H	NM_021072	NP_066550	O60741	HCN1_HUMAN			3	955	-			310			Helical; Name=Segment S5; (Potential).			Silent	SNP	ENST00000303230.4	37	c.930C>T	CCDS3952.1																																																																																				PASS	0.408	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		92	80	92	80	---	---	---	---
POLK	51426	broad.mit.edu	37	5	74893773	74893773	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:74893773C>A	ENST00000241436.4	+	15	2715	c.2543C>A	c.(2542-2544)aCa>aAa	p.T848K	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.T758K|POLK_ENST00000352007.5_Missense_Mutation_p.T650K|POLK_ENST00000508526.1_Missense_Mutation_p.T650K|POLK_ENST00000504026.1_3'UTR|CTC-366B18.2_ENST00000511329.1_RNA	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	848					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.T848K(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GGATTGATGACAAAGTACTCA	0.244								DNA polymerases (catalytic subunits)																														uc003kdw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(2)	4						c.(2542-2544)ACA>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							49.0	50.0	50.0					5																	74893773		2201	4284	6485	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74893773C>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2543C>A	5.37:g.74893773C>A	ENSP00000241436:p.Thr848Lys					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.T650K|POLK_uc003kec.2_Missense_Mutation_p.T758K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_3'UTR|POLK_uc003kee.2_3'UTR|POLK_uc003kef.2_Missense_Mutation_p.T758K	p.T848K	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	15	2639	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	848					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.2543C>A	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807224	0.50421	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.58210	1.15;0.35;0.35;1.15	4.95	3.08	0.35506	.	0.583059	0.19252	N	0.118912	T	0.48554	0.1506	M	0.65498	2.005	0.09310	N	1	B;B	0.29766	0.015;0.256	B;B	0.24155	0.016;0.051	T	0.41822	-0.9487	10	0.51188	T	0.08	-6.569	11.4705	0.50266	0.3553:0.6447:0.0:0.0	.	650;848	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	K	848;650;650;758	ENSP00000241436:T848K;ENSP00000342256:T650K;ENSP00000426853:T650K;ENSP00000369848:T758K	ENSP00000241436:T848K	T	+	2	0	POLK	74929529	0.016000	0.18221	0.174000	0.22961	0.940000	0.58332	2.231000	0.43009	0.535000	0.28714	-0.181000	0.13052	ACA		PASS	0.244	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		18	14	18	14	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	80169001	80169001	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:80169001G>A	ENST00000265081.6	+	23	3277	c.3197G>A	c.(3196-3198)aGg>aAg	p.R1066K		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1066					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.R1057K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATTGCAGCAAGGAGTTATGGA	0.398								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)	4						c.(3196-3198)AGG>AAG	MMR	mutS homolog 3							138.0	135.0	136.0					5																	80169001		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80169001G>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.3197G>A	5.37:g.80169001G>A	ENSP00000265081:p.Arg1066Lys						p.R1066K	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	23	3450	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	1066					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.3197G>A	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165830	0.94768	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.84370	-1.84	6.16	6.16	0.99307	DNA mismatch repair protein MutS, C-terminal (2);	0.040310	0.85682	D	0.000000	D	0.88526	0.6460	N	0.25647	0.755	0.44079	D	0.996839	D	0.76494	0.999	D	0.83275	0.996	D	0.85906	0.1437	9	.	.	.	-22.3555	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1066	P20585	MSH3_HUMAN	K	1066;1057	ENSP00000265081:R1066K	.	R	+	2	0	MSH3	80204757	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.147000	0.89628	2.937000	0.99478	0.650000	0.86243	AGG		PASS	0.398	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		150	74	150	74	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89979655	89979655	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:89979655G>T	ENST00000405460.2	+	28	6013	c.5917G>T	c.(5917-5919)Gat>Tat	p.D1973Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1973	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D1973Y(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGGCTAGTGATGATCCATA	0.403																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(5917-5919)GAT>TAT		G protein-coupled receptor 98 precursor							120.0	108.0	112.0					5																	89979655		1883	4112	5995	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979655G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5917G>T	5.37:g.89979655G>T	ENSP00000384582:p.Asp1973Tyr					GPR98_uc003kjt.2_5'UTR	p.D1973Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6013	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1973			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.5917G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190366	0.78789	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.55413	0.52	5.71	5.71	0.89125	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83027	-0.0164	10	0.87932	D	0	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	1973	Q8WXG9	GPR98_HUMAN	Y	1973	ENSP00000384582:D1973Y	ENSP00000296619:D1973Y	D	+	1	0	GPR98	90015411	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	9.491000	0.97954	2.701000	0.92244	0.591000	0.81541	GAT		PASS	0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		28	13	28	13	---	---	---	---
WDR36	134430	broad.mit.edu	37	5	110439942	110439942	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:110439942A>G	ENST00000513710.2	+	8	969	c.965A>G	c.(964-966)aAa>aGa	p.K322R	WDR36_ENST00000505303.1_Missense_Mutation_p.K266R|WDR36_ENST00000506538.2_Missense_Mutation_p.K322R			Q8NI36	WDR36_HUMAN	WD repeat domain 36	322					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.K322R(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTAGAAGACAAAAAATTAATC	0.393																																						uc003kpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(964-966)AAA>AGA		WD repeat domain 36							90.0	94.0	93.0					5																	110439942		2201	4300	6501	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110439942A>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.965A>G	5.37:g.110439942A>G	ENSP00000424628:p.Lys322Arg					WDR36_uc010jbu.2_RNA	p.K322R	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	8	1082	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	322			WD 3.		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.965A>G	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	5.246	0.230812	0.09969	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.28666	1.6;1.6;3.3	5.68	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.197714	0.52532	D	0.000069	T	0.16428	0.0395	N	0.04724	-0.175	0.51482	D	0.999923	B	0.13145	0.007	B	0.09377	0.004	T	0.05649	-1.0872	10	0.87932	D	0	-24.827	12.01	0.53282	0.9282:0.0:0.0718:0.0	.	322	Q8NI36	WDR36_HUMAN	R	322;322;266	ENSP00000423067:K322R;ENSP00000424628:K322R;ENSP00000422158:K266R	ENSP00000422158:K266R	K	+	2	0	WDR36	110467841	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.456000	0.44997	2.293000	0.77203	0.477000	0.44152	AAA		PASS	0.393	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		102	54	102	54	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127681067	127681067	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:127681067C>G	ENST00000508053.1	-	30	4173	c.3199G>C	c.(3199-3201)Ggg>Cgg	p.G1067R	FBN2_ENST00000262464.4_Missense_Mutation_p.G1067R|FBN2_ENST00000508989.1_Missense_Mutation_p.G1034R			P35556	FBN2_HUMAN	fibrillin 2	1067					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G1067W(2)|p.G1067R(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATGGCCGCCCAGTAAGAACA	0.562																																						uc003kuu.2																			4	Substitution - Missense(4)		lung(4)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3199-3201)GGG>CGG		fibrillin 2 precursor							71.0	75.0	74.0					5																	127681067		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127681067C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3199G>C	5.37:g.127681067C>G	ENSP00000424571:p.Gly1067Arg					FBN2_uc003kuv.2_Missense_Mutation_p.G1034R	p.G1067R	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	24	3638	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1067					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3199G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332042	0.81801	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.86164	-1.86;-1.86;-2.08	4.05	4.05	0.47172	Matrix fibril-associated (1);	0.000000	0.64402	D	0.000010	D	0.95310	0.8478	H	0.94462	3.54	0.58432	D	0.999998	P;D	0.89917	0.873;1.0	P;D	0.91635	0.677;0.999	D	0.96603	0.9446	10	0.87932	D	0	.	17.5422	0.87851	0.0:1.0:0.0:0.0	.	1034;1067	D6RJI3;P35556	.;FBN2_HUMAN	R	1067;1067;1034	ENSP00000262464:G1067R;ENSP00000424571:G1067R;ENSP00000425596:G1034R	ENSP00000262464:G1067R	G	-	1	0	FBN2	127708966	1.000000	0.71417	0.735000	0.30896	0.831000	0.47069	7.609000	0.82925	2.552000	0.86080	0.563000	0.77884	GGG		PASS	0.562	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		84	63	84	63	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128864307	128864307	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:128864307T>A	ENST00000274487.4	+	6	1392	c.1247T>A	c.(1246-1248)tTa>tAa	p.L416*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	416	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L416*(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATATACATTTAGAGATGTCA	0.358																																						uc003kvb.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1246-1248)TTA>TAA		ADAM metallopeptidase with thrombospondin type 1							95.0	99.0	98.0					5																	128864307		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128864307T>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1247T>A	5.37:g.128864307T>A	ENSP00000274487:p.Leu416*					ADAMTS19_uc003kvc.1_RNA	p.L416*	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	6	1247	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	416			Peptidase M12B.			Nonsense_Mutation	SNP	ENST00000274487.4	37	c.1247T>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	T	34	5.299484	0.95574	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.02	2.86	0.33363	.	0.405885	0.20588	N	0.089414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9033	0.41362	0.0:0.083:0.0:0.917	.	.	.	.	X	416	.	.	L	+	2	0	ADAMTS19	128892206	1.000000	0.71417	0.982000	0.44146	0.967000	0.64934	3.795000	0.55499	0.891000	0.36235	0.529000	0.55759	TTA		PASS	0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		66	115	66	115	---	---	---	---
KIF20A	10112	broad.mit.edu	37	5	137522040	137522040	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:137522040G>C	ENST00000394894.3	+	18	2501	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.E741Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	759					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.E759Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAATCAGCAGAGAGAGCTTG	0.458																																						uc003lcj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2275-2277)GAG>CAG		kinesin family member 20A							94.0	91.0	92.0					5																	137522040		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137522040G>C	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.2275G>C	5.37:g.137522040G>C	ENSP00000378356:p.Glu759Gln					KIF20A_uc011cyo.1_Missense_Mutation_p.E741Q	p.E759Q	NM_005733	NP_005724	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		18	2771	+			759			Potential.		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.2275G>C	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186669	0.78789	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.74002	-0.73;-0.8	5.71	5.71	0.89125	.	0.000000	0.44688	D	0.000435	D	0.82683	0.5090	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	P;P	0.61940	0.896;0.863	T	0.80193	-0.1484	10	0.36615	T	0.2	-18.5413	19.8544	0.96750	0.0:0.0:1.0:0.0	.	741;759	B4DL79;O95235	.;KI20A_HUMAN	Q	759;741	ENSP00000378356:E759Q;ENSP00000420880:E741Q	ENSP00000378356:E759Q	E	+	1	0	KIF20A	137549939	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.629000	0.90983	2.687000	0.91594	0.655000	0.94253	GAG		PASS	0.458	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		77	51	77	51	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481562	140481562	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:140481562C>A	ENST00000231130.2	+	1	1329	c.1329C>A	c.(1327-1329)gaC>gaA	p.D443E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D443E(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTCTCCGACGTCAATGACA	0.562																																						uc003lio.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1327-1329)GAC>GAA		protocadherin beta 3 precursor							102.0	96.0	98.0					5																	140481562		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481562C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1329C>A	5.37:g.140481562C>A	ENSP00000231130:p.Asp443Glu					uc003lin.2_Intron	p.D443E	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1329	+			443			Extracellular (Potential).|Cadherin 4.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1329C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977293	0.53720	.	.	ENSG00000113205	ENST00000231130	T	0.66995	-0.24	4.39	-0.653	0.11447	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.87208	0.6120	H	0.98866	4.355	0.31575	N	0.655863	D	0.89917	1.0	D	0.97110	1.0	D	0.84668	0.0710	9	0.87932	D	0	.	10.443	0.44477	0.0:0.4097:0.0:0.5903	.	443	Q9Y5E6	PCDB3_HUMAN	E	443	ENSP00000231130:D443E	ENSP00000231130:D443E	D	+	3	2	PCDHB3	140461746	0.280000	0.24249	0.993000	0.49108	0.892000	0.51952	-0.370000	0.07523	-0.135000	0.11495	-0.140000	0.14226	GAC		PASS	0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		116	84	116	84	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140774623	140774623	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:140774623C>G	ENST00000398604.2	+	1	2243	c.2243C>G	c.(2242-2244)gCt>gGt	p.A748G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	748					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A748G(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTACAGGCTTTCCTGCAG	0.582																																						uc003lkd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2242-2244)GCT>GGT		protocadherin gamma subfamily A, 8 isoform 1							79.0	84.0	82.0					5																	140774623		2201	4300	6501	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774623C>G	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2243C>G	5.37:g.140774623C>G	ENSP00000381605:p.Ala748Gly					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A748G	p.A748G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3141	+			748			Cytoplasmic (Potential).		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.2243C>G	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	15.85	2.956005	0.53293	.	.	ENSG00000253767	ENST00000398604	T	0.46819	0.86	4.5	4.5	0.54988	.	0.000000	0.31010	U	0.008437	T	0.69214	0.3086	M	0.82517	2.595	0.34147	D	0.667073	P;P	0.47841	0.901;0.814	P;P	0.60949	0.881;0.519	T	0.80294	-0.1443	10	0.54805	T	0.06	.	17.0278	0.86452	0.0:1.0:0.0:0.0	.	748;748	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	G	748	ENSP00000381605:A748G	ENSP00000381605:A748G	A	+	2	0	PCDHGA8	140754807	0.041000	0.20044	0.862000	0.33874	0.859000	0.49053	1.613000	0.36900	2.348000	0.79779	0.655000	0.94253	GCT		PASS	0.582	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		66	31	66	31	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141033816	141033816	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:141033816C>A	ENST00000239440.4	-	33	4401	c.4336G>T	c.(4336-4338)Gat>Tat	p.D1446Y	FCHSD1_ENST00000522783.1_5'Flank|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.D1095Y|ARAP3_ENST00000508305.1_Missense_Mutation_p.D1277Y|FCHSD1_ENST00000435817.2_5'Flank|FCHSD1_ENST00000519800.1_5'Flank	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1446					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.D1446Y(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AAGGGTTGATCCAATGACTTC	0.607																																						uc003llm.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(1)|large_intestine(1)	7						c.(4336-4338)GAT>TAT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							109.0	111.0	110.0					5																	141033816		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141033816C>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4336G>T	5.37:g.141033816C>A	ENSP00000239440:p.Asp1446Tyr					ARAP3_uc003lll.2_Missense_Mutation_p.D397Y|ARAP3_uc011dbe.1_Missense_Mutation_p.D1095Y|ARAP3_uc003lln.2_Missense_Mutation_p.D1277Y	p.D1446Y	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			33	4414	-			1446					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.4336G>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564788	0.65651	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.48201	0.82;0.82;0.82	5.05	5.05	0.67936	.	0.115970	0.38492	N	0.001668	T	0.55752	0.1940	N	0.24115	0.695	0.45452	D	0.99842	D;D;D	0.76494	0.998;0.999;0.998	P;D;P	0.66979	0.888;0.948;0.888	T	0.60969	-0.7157	10	0.72032	D	0.01	.	18.1808	0.89777	0.0:1.0:0.0:0.0	.	1095;1277;1446	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Y	1277;1446;1095	ENSP00000421826:D1277Y;ENSP00000239440:D1446Y;ENSP00000421468:D1095Y	ENSP00000239440:D1446Y	D	-	1	0	ARAP3	141014000	0.615000	0.27026	0.994000	0.49952	0.667000	0.39255	1.470000	0.35354	2.605000	0.88082	0.655000	0.94253	GAT		PASS	0.607	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		116	64	116	64	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147491427	147491427	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:147491427G>T	ENST00000256084.7	+	19	1831	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	SPINK5_ENST00000359874.3_Missense_Mutation_p.G597C|SPINK5_ENST00000398454.1_Missense_Mutation_p.G597C	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	597	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G597C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATCCACGGCAACACCTG	0.537																																						uc003lox.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(1789-1791)GGC>TGC		serine peptidase inhibitor, Kazal type 5 isoform							120.0	120.0	120.0					5																	147491427		1985	4165	6150	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147491427G>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1789G>T	5.37:g.147491427G>T	ENSP00000256084:p.Gly597Cys					SPINK5_uc010jgs.1_Missense_Mutation_p.G569C|SPINK5_uc010jgr.2_Missense_Mutation_p.G578C|SPINK5_uc003low.2_Missense_Mutation_p.G597C|SPINK5_uc003loy.2_Missense_Mutation_p.G597C	p.G597C	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	1862	+			597			Kazal-like 9.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1789G>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103330	0.56183	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	4.52	3.63	0.41609	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.529644	0.15819	N	0.243112	T	0.18299	0.0439	M	0.76170	2.325	0.20196	N	0.999922	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.996	T	0.02098	-1.1214	10	0.56958	D	0.05	-5.5588	9.0879	0.36592	0.1001:0.0:0.8999:0.0	.	578;597;597;597	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	C	597;597;578;597	ENSP00000381472:G597C;ENSP00000352936:G597C;ENSP00000421519:G578C;ENSP00000256084:G597C	ENSP00000256084:G597C	G	+	1	0	SPINK5	147471620	0.986000	0.35501	0.514000	0.27761	0.902000	0.53008	1.916000	0.39986	1.472000	0.48140	0.650000	0.86243	GGC		PASS	0.537	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		105	37	105	37	---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148709278	148709278	+	Silent	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:148709278G>C	ENST00000296721.4	+	16	1958	c.1860G>C	c.(1858-1860)cgG>cgC	p.R620R	AFAP1L1_ENST00000515000.1_Silent_p.R620R	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	620						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R620R(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATGCCCGGAGGTACTTGG	0.512																																						uc003lqh.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|pancreas(1)	2						c.(1858-1860)CGG>CGC		actin filament associated protein 1-like 1							53.0	56.0	55.0					5																	148709278		2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148709278G>C	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1860G>C	5.37:g.148709278G>C						AFAP1L1_uc010jgy.2_Silent_p.R620R|AFAP1L1_uc003lqi.1_Silent_p.R235R	p.R620R	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	1991	+			620			Potential.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.1860G>C	CCDS34274.1																																																																																				PASS	0.512	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		7	30	7	30	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160071204	160071204	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:160071204A>T	ENST00000327245.5	-	9	1655	c.809T>A	c.(808-810)cTg>cAg	p.L270Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	270					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L270Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTCGAAGCAGAAGACTCTC	0.493																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(808-810)CTG>CAG		ATPase, class V, type 10B							116.0	118.0	118.0					5																	160071204		2009	4181	6190	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160071204A>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.809T>A	5.37:g.160071204A>T	ENSP00000313600:p.Leu270Gln					ATP10B_uc003lyp.2_Missense_Mutation_p.L270Q|ATP10B_uc011deg.1_Missense_Mutation_p.L314Q|ATP10B_uc003lyo.2_Missense_Mutation_p.L242Q	p.L270Q	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1656	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	270			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.809T>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459551	0.84317	.	.	ENSG00000118322	ENST00000327245	D	0.92048	-2.96	4.9	4.9	0.64082	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000006	D	0.97901	0.9310	H	0.99498	4.595	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;0.997;1.0;1.0	D	0.98959	1.0797	9	.	.	.	.	13.7252	0.62754	1.0:0.0:0.0:0.0	.	314;270;242;270	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	Q	270	ENSP00000313600:L270Q	.	L	-	2	0	ATP10B	160003782	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	8.614000	0.90917	1.831000	0.53308	0.460000	0.39030	CTG		PASS	0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		71	41	71	41	---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161324136	161324136	+	Missense_Mutation	SNP	C	C	G	rs80337021	byFrequency	TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:161324136C>G	ENST00000428797.2	+	11	1434	c.1079C>G	c.(1078-1080)cCt>cGt	p.P360R	GABRA1_ENST00000437025.2_Missense_Mutation_p.P360R|GABRA1_ENST00000393943.4_Missense_Mutation_p.P360R|GABRA1_ENST00000444819.1_Missense_Mutation_p.P360R|GABRA1_ENST00000420560.1_Missense_Mutation_p.P360R|GABRA1_ENST00000023897.6_Missense_Mutation_p.P360R	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	360					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P360R(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTAAAGGATCCTCTTATTAAG	0.433																																						uc010jiw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1078-1080)CCT>CGT		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						89.0	101.0	97.0					5																	161324136		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324136C>G		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1079C>G	5.37:g.161324136C>G	ENSP00000393097:p.Pro360Arg					GABRA1_uc010jix.2_Missense_Mutation_p.P360R|GABRA1_uc010jiy.2_Missense_Mutation_p.P360R|GABRA1_uc003lyx.3_Missense_Mutation_p.P360R|GABRA1_uc010jiz.2_Missense_Mutation_p.P360R|GABRA1_uc010jja.2_Missense_Mutation_p.P360R|GABRA1_uc010jjb.2_Missense_Mutation_p.P360R	p.P360R	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1547	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	360			Cytoplasmic (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1079C>G	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.040215	0.55003	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.056035	0.64402	D	0.000001	T	0.71736	0.3375	L	0.27053	0.805	0.58432	D	0.999999	B	0.14438	0.01	B	0.19666	0.026	T	0.65442	-0.6167	10	0.14252	T	0.57	.	19.3564	0.94416	0.0:1.0:0.0:0.0	.	360	P14867	GBRA1_HUMAN	R	360	ENSP00000023897:P360R;ENSP00000393097:P360R;ENSP00000377517:P360R;ENSP00000415441:P360R;ENSP00000408041:P360R;ENSP00000414232:P360R	ENSP00000023897:P360R	P	+	2	0	GABRA1	161256714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.395000	0.79876	2.642000	0.89623	0.563000	0.77884	CCT		PASS	0.433	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		135	81	135	81	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169423111	169423111	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:169423111C>T	ENST00000256935.8	+	30	3095	c.3015C>T	c.(3013-3015)aaC>aaT	p.N1005N	DOCK2_ENST00000540750.1_Silent_p.N66N|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.N497N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1005	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.N1005N(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGCTATCAACAAGTTTGCAG	0.478																																						uc003maf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(3013-3015)AAC>AAT		dedicator of cytokinesis 2							112.0	103.0	106.0					5																	169423111		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169423111C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3015C>T	5.37:g.169423111C>T						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.N497N	p.N1005N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3095	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1005			Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3015C>T	CCDS4371.1																																																																																				PASS	0.478	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		23	61	23	61	---	---	---	---
HRH2	3274	broad.mit.edu	37	5	175110705	175110705	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr5:175110705G>T	ENST00000231683.2	+	1	2242	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W	HRH2_ENST00000377291.2_Missense_Mutation_p.G157W	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	157					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.G157W(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TATCCACCTGGGGTGGAACAG	0.547																																						uc003mdd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)GGG>TGG		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						118.0	97.0	104.0					5																	175110705		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110705G>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.469G>T	5.37:g.175110705G>T	ENSP00000231683:p.Gly157Trp					HRH2_uc003mdc.3_Missense_Mutation_p.G157W	p.G157W	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2242	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	157			Helical; Name=4; (Potential).		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.469G>T	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369351	0.82463	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.40476	1.03;1.03	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.113950	0.64402	D	0.000013	T	0.67998	0.2953	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.997;0.999	T	0.72792	-0.4186	10	0.87932	D	0	.	17.8982	0.88896	0.0:0.0:1.0:0.0	.	157;157	P25021;Q7Z5R9	HRH2_HUMAN;.	W	157	ENSP00000366506:G157W;ENSP00000231683:G157W	ENSP00000231683:G157W	G	+	1	0	HRH2	175043311	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.018000	0.88722	2.476000	0.83614	0.462000	0.41574	GGG		PASS	0.547	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			31	72	31	72	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7572250	7572250	+	Silent	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:7572250A>T	ENST00000379802.3	+	15	2420	c.2079A>T	c.(2077-2079)ctA>ctT	p.L693L	DSP_ENST00000418664.2_Silent_p.L693L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	693	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L693L(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCTCCCTCTAGCAGACCAGG	0.438																																						uc003mxp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(2077-2079)CTA>CTT		desmoplakin isoform I							62.0	61.0	62.0					6																	7572250		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7572250A>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2079A>T	6.37:g.7572250A>T						DSP_uc003mxq.1_Silent_p.L693L	p.L693L	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	15	2358	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	693			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.2079A>T	CCDS4501.1																																																																																				PASS	0.438	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		22	58	22	58	---	---	---	---
ADTRP	84830	broad.mit.edu	37	6	11768579	11768579	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:11768579T>C	ENST00000414691.3	-	2	601	c.191A>G	c.(190-192)gAt>gGt	p.D64G	ADTRP_ENST00000379413.2_Missense_Mutation_p.D64G|ADTRP_ENST00000229583.5_Missense_Mutation_p.D82G	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D64G(1)									CAGCACATCATCCAGGCAGGT	0.418																																						uc003nab.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GAT>GGT		hypothetical protein LOC84830 isoform 2							195.0	177.0	183.0					6																	11768579		2203	4300	6503	SO:0001583	missense	84830					integral to membrane		g.chr6:11768579T>C	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.191A>G	6.37:g.11768579T>C	ENSP00000404416:p.Asp64Gly					C6orf105_uc011dip.1_Missense_Mutation_p.D82G	p.D64G	NM_032744	NP_116133	Q96IZ2	CF105_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.193)		2	479	-	Ovarian(93;0.0848)|Breast(50;0.0871)	all_hematologic(90;0.135)	64			Helical; (Potential).		B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	c.191A>G	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.132935	0.37630	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000379413;ENST00000379415;ENST00000506810	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	6.08	6.08	0.98989	.	0.546439	0.20346	N	0.094160	T	0.14184	0.0343	L	0.50333	1.59	0.36316	D	0.85796	P;P	0.47762	0.9;0.801	B;B	0.39258	0.295;0.192	T	0.07046	-1.0793	10	0.22109	T	0.4	-2.479	11.3485	0.49575	0.0:0.0:0.1958:0.8042	.	82;64	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	G	64;82;64;64;64	ENSP00000404416:D64G;ENSP00000229583:D82G;ENSP00000368723:D64G;ENSP00000368726:D64G;ENSP00000422927:D64G	ENSP00000229583:D82G	D	-	2	0	C6orf105	11876565	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.682000	0.54656	2.333000	0.79357	0.482000	0.46254	GAT		PASS	0.418	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		87	184	87	184	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054114	29054114	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:29054114C>A	ENST00000377173.2	-	1	976	c.912G>T	c.(910-912)ctG>ctT	p.L304L		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L304L(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TTCTTGGCATCAGCCTCTTGA	0.378																																						uc003nlx.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(910-912)CTG>CTT		olfactory receptor, family 2, subfamily B,							59.0	61.0	61.0					6																	29054114		2203	4300	6503	SO:0001819	synonymous_variant	442184							g.chr6:29054114C>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.912G>T	6.37:g.29054114C>A							p.L304L	NM_001005226	NP_001005226					1	977	-								B0UYQ1|Q5ST41|Q96R13	Silent	SNP	ENST00000377173.2	37	c.912G>T	CCDS34358.1																																																																																				PASS	0.378	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			51	48	51	48	---	---	---	---
MUC21	394263	broad.mit.edu	37	6	30954401	30954401	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:30954401C>A	ENST00000376296.3	+	2	690	c.449C>A	c.(448-450)gCc>gAc	p.A150D	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	150	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A150D(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCTAGCACAGCCACCAACTCT	0.617																																						uc003nsh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(448-450)GCC>GAC		mucin 21 precursor							154.0	144.0	148.0					6																	30954401		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954401C>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.449C>A	6.37:g.30954401C>A	ENSP00000365473:p.Ala150Asp					MUC21_uc003nsi.1_RNA	p.A150D	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	700	+			150			Ser-rich.|28 X 15 AA approximate tandem repeats.|9.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.449C>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793424	0.31685	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01887	4.58	3.43	2.53	0.30540	.	.	.	.	.	T	0.01592	0.0051	N	0.24115	0.695	0.09310	N	1	D	0.58268	0.982	P	0.58780	0.845	T	0.55042	-0.8202	8	.	.	.	0.5017	10.8083	0.46531	0.0:0.8065:0.1935:0.0	.	150	Q5SSG8	MUC21_HUMAN	D	150	ENSP00000365473:A150D	.	A	+	2	0	MUC21	31062380	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.761000	0.04751	0.757000	0.33036	0.485000	0.47835	GCC		PASS	0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		103	215	103	215	---	---	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652195	36652195	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:36652195C>T	ENST00000405375.1	+	2	552	c.317C>T	c.(316-318)gCa>gTa	p.A106V	CDKN1A_ENST00000244741.5_Missense_Mutation_p.A106V|CDKN1A_ENST00000373711.2_Missense_Mutation_p.A106V|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Missense_Mutation_p.A140V	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	106					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.A106V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CAGGGGACAGCAGAGGAAGAC	0.657																																						uc003omm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(316-318)GCA>GTA		cyclin-dependent kinase inhibitor 1A							37.0	37.0	37.0					6																	36652195		2203	4300	6503	SO:0001583	missense	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652195C>T	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.317C>T	6.37:g.36652195C>T	ENSP00000384849:p.Ala106Val					CDKN1A_uc011dtq.1_Missense_Mutation_p.A140V|CDKN1A_uc003oml.2_Missense_Mutation_p.A106V|CDKN1A_uc003omn.2_Missense_Mutation_p.A106V	p.A106V	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	439	+			106					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.317C>T	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165764	0.21538	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.06	2.16	0.27623	.	0.689226	0.13247	N	0.402362	T	0.35941	0.0949	L	0.46157	1.445	0.09310	N	1	B;B;B	0.30482	0.281;0.18;0.18	B;B;B	0.27796	0.083;0.083;0.083	T	0.20571	-1.0271	10	0.48119	T	0.1	-3.3516	7.5081	0.27558	0.34:0.4954:0.1646:0.0	.	140;106;106	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	V	140;106;106;106	ENSP00000409259:A140V;ENSP00000244741:A106V;ENSP00000384849:A106V;ENSP00000362815:A106V	ENSP00000244741:A106V	A	+	2	0	CDKN1A	36760173	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	0.935000	0.28924	0.261000	0.21753	-0.314000	0.08810	GCA		PASS	0.657	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		17	33	17	33	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43189039	43189039	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:43189039G>A	ENST00000252050.4	+	34	6816	c.6732G>A	c.(6730-6732)gaG>gaA	p.E2244E	CUL9_ENST00000354495.3_Silent_p.E2134E|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Silent_p.E2216E	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2244					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.E2244E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTCCCATCGAGAAGAACGAGG	0.637																																						uc003ouk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(6730-6732)GAG>GAA		p53-associated parkin-like cytoplasmic protein							43.0	39.0	40.0					6																	43189039		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43189039G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6732G>A	6.37:g.43189039G>A						CUL9_uc003oul.2_Silent_p.E2216E|CUL9_uc010jyk.2_Silent_p.E1396E|CUL9_uc003oun.2_Silent_p.E39E	p.E2244E	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			34	6807	+			2244			RING-type 2.		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.6732G>A	CCDS4890.1																																																																																				PASS	0.637	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		24	56	24	56	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46832859	46832859	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:46832859G>C	ENST00000283296.7	-	14	2198	c.1910C>G	c.(1909-1911)aCt>aGt	p.T637S	GPR116_ENST00000545669.1_Missense_Mutation_p.T66S|GPR116_ENST00000265417.7_Missense_Mutation_p.T637S|GPR116_ENST00000456426.2_Missense_Mutation_p.T495S|GPR116_ENST00000362015.4_Missense_Mutation_p.T637S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	637					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T637S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CACATCAACAGTTTTTGAACA	0.358																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1909-1911)ACT>AGT		G-protein coupled receptor 116 precursor							218.0	190.0	200.0					6																	46832859		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46832859G>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1910C>G	6.37:g.46832859G>C	ENSP00000283296:p.Thr637Ser					GPR116_uc011dwj.1_Missense_Mutation_p.T192S|GPR116_uc011dwk.1_Missense_Mutation_p.T66S|GPR116_uc003oyp.3_Missense_Mutation_p.T495S|GPR116_uc003oyq.3_Missense_Mutation_p.T637S|GPR116_uc010jzi.1_Missense_Mutation_p.T309S	p.T637S	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		14	2199	-			637			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1910C>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	0.403	-0.917360	0.02396	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417;ENST00000545669	T;T;T;T;T	0.27256	1.74;2.13;1.75;1.74;1.68	5.91	-2.94	0.05581	.	1.493290	0.04031	N	0.301432	T	0.05823	0.0152	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.26845	0.024;0.036;0.007;0.161;0.007	B;B;B;B;B	0.21360	0.03;0.013;0.005;0.034;0.005	T	0.27640	-1.0068	10	0.15499	T	0.54	0.0375	10.0232	0.42055	0.0:0.1484:0.5457:0.3059	.	66;192;637;495;637	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	S	637;637;637;495;637;66	ENSP00000283296:T637S;ENSP00000354563:T637S;ENSP00000412866:T495S;ENSP00000265417:T637S;ENSP00000441581:T66S	ENSP00000265417:T637S	T	-	2	0	GPR116	46940818	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	0.206000	0.17375	-0.364000	0.08088	-0.178000	0.13098	ACT		PASS	0.358	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		135	58	135	58	---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70490434	70490434	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:70490434C>A	ENST00000370577.3	-	3	488	c.259G>T	c.(259-261)Gct>Tct	p.A87S	LMBRD1_ENST00000370570.1_Missense_Mutation_p.A14S	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	87					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.A87S(1)|p.A87P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CTGACATTAGCATTAGCCCAG	0.338																																						uc003pfa.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(259-261)GCT>TCT		liver regeneration p-53 related protein							117.0	112.0	114.0					6																	70490434		2203	4300	6503	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70490434C>A	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.259G>T	6.37:g.70490434C>A	ENSP00000359609:p.Ala87Ser					LMBRD1_uc003pez.2_Missense_Mutation_p.A14S|LMBRD1_uc010kal.2_Missense_Mutation_p.A14S|LMBRD1_uc003pfb.2_RNA	p.A87S	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			3	374	-			87			Extracellular (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.259G>T	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	C	5.789	0.329998	0.10956	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.17691	2.26;2.26	5.67	4.69	0.59074	LMBR1-like membrane protein (1);	0.333487	0.34853	N	0.003622	T	0.01627	0.0052	N	0.02539	-0.55	0.33047	D	0.532267	B	0.02656	0.0	B	0.04013	0.001	T	0.44483	-0.9325	10	0.06099	T	0.92	-5.075	8.3391	0.32232	0.0:0.8006:0.0:0.1994	.	87	Q9NUN5	LMBD1_HUMAN	S	87;14	ENSP00000359609:A87S;ENSP00000359602:A14S	ENSP00000359602:A14S	A	-	1	0	LMBRD1	70547155	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.957000	0.40392	2.661000	0.90470	0.462000	0.41574	GCT		PASS	0.338	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		58	40	58	40	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102074484	102074484	+	Silent	SNP	C	C	A	rs201025895	byFrequency	TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:102074484C>A	ENST00000421544.1	+	3	1003	c.513C>A	c.(511-513)acC>acA	p.T171T	GRIK2_ENST00000369137.3_Silent_p.T171T|GRIK2_ENST00000358361.3_Silent_p.T171T|GRIK2_ENST00000369138.1_Silent_p.T171T|GRIK2_ENST00000318991.6_Silent_p.T171T|GRIK2_ENST00000413795.1_Silent_p.T171T|GRIK2_ENST00000369134.4_Silent_p.T122T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	171					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.T171T(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGTGGAAAACCGTCACGGTTG	0.408																																						uc003pqp.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(511-513)ACC>ACA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						75.0	78.0	77.0					6																	102074484		2203	4300	6503	SO:0001819	synonymous_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102074484C>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.513C>A	6.37:g.102074484C>A						GRIK2_uc003pqn.2_Silent_p.T171T|GRIK2_uc003pqo.3_Silent_p.T171T|GRIK2_uc010kcw.2_Silent_p.T171T	p.T171T	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	762	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	171			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.513C>A	CCDS5048.1																																																																																				PASS	0.408	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			34	105	34	105	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111694235	111694235	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:111694235A>G	ENST00000358835.3	-	14	5777	c.5323T>C	c.(5323-5325)Tct>Cct	p.S1775P	REV3L_ENST00000368802.3_Missense_Mutation_p.S1775P|REV3L_ENST00000368805.1_Missense_Mutation_p.S1775P|REV3L_ENST00000435970.1_Missense_Mutation_p.S1697P			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1775					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S1775P(1)|p.S1697P(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCAATCTAGATTTTTCACTT	0.403								DNA polymerases (catalytic subunits)																														uc003puy.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(5323-5325)TCT>CCT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							170.0	163.0	165.0					6																	111694235		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694235A>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5323T>C	6.37:g.111694235A>G	ENSP00000351697:p.Ser1775Pro					REV3L_uc003pux.3_Missense_Mutation_p.S1697P|REV3L_uc003puz.3_Missense_Mutation_p.S1697P	p.S1775P	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	5646	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1775					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5323T>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	9.992	1.231206	0.22626	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01584	4.85;4.85;4.85;4.75	5.93	3.51	0.40186	Ribonuclease H-like (1);	0.328049	0.29307	N	0.012540	T	0.00724	0.0024	L	0.50333	1.59	0.22541	N	0.999003	B	0.02656	0.0	B	0.04013	0.001	T	0.49184	-0.8966	10	0.27785	T	0.31	-2.8843	8.4823	0.33049	0.801:0.131:0.068:0.0	.	1775	O60673	DPOLZ_HUMAN	P	1775;1775;1775;1697	ENSP00000357792:S1775P;ENSP00000357795:S1775P;ENSP00000351697:S1775P;ENSP00000402003:S1697P	ENSP00000351697:S1775P	S	-	1	0	REV3L	111800928	0.997000	0.39634	0.975000	0.42487	0.990000	0.78478	2.040000	0.41203	0.474000	0.27392	0.533000	0.62120	TCT		PASS	0.403	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		116	220	116	220	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152652799	152652799	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:152652799T>A	ENST00000367255.5	-	78	13622	c.13021A>T	c.(13021-13023)Acc>Tcc	p.T4341S	SYNE1_ENST00000265368.4_Missense_Mutation_p.T4341S|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4206S|SYNE1_ENST00000423061.1_Missense_Mutation_p.T4270S|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4270S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4341					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T4341S(2)|p.T4270S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAGTTGGTGACTGACACT	0.458										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(13021-13023)ACC>TCC		spectrin repeat containing, nuclear envelope 1							151.0	141.0	145.0					6																	152652799		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652799T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13021A>T	6.37:g.152652799T>A	ENSP00000356224:p.Thr4341Ser	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.T4270S|SYNE1_uc003qou.3_Missense_Mutation_p.T4341S|SYNE1_uc010kiz.2_Missense_Mutation_p.T96S	p.T4341S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13623	-		Ovarian(120;0.0955)	4341			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13021A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	8.954	0.968871	0.18659	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.84	4.68	0.58851	.	0.201414	0.34986	N	0.003533	T	0.05914	0.0154	N	0.16307	0.4	0.80722	D	1	B;B;B;B	0.21147	0.052;0.014;0.014;0.024	B;B;B;B	0.23150	0.044;0.005;0.005;0.01	T	0.18999	-1.0319	10	0.09084	T	0.74	.	7.616	0.28158	0.1327:0.0699:0.0:0.7975	.	4341;4341;4341;4270	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	4341;4270;4341;4270;4206	ENSP00000356224:T4341S;ENSP00000396024:T4270S;ENSP00000265368:T4341S;ENSP00000390975:T4270S;ENSP00000341887:T4206S	ENSP00000265368:T4341S	T	-	1	0	SYNE1	152694492	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.291000	0.33330	1.037000	0.40024	0.533000	0.62120	ACC		PASS	0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		155	82	155	82	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152730772	152730772	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr6:152730772G>A	ENST00000367255.5	-	43	6904	c.6303C>T	c.(6301-6303)gtC>gtT	p.V2101V	SYNE1_ENST00000265368.4_Silent_p.V2101V|RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000341594.5_Silent_p.V2138V|SYNE1_ENST00000423061.1_Silent_p.V2108V|SYNE1_ENST00000448038.1_Silent_p.V2108V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2101					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V2101V(2)|p.V2108V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATTTTCTAAGACTTTAGATA	0.333										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(6301-6303)GTC>GTT		spectrin repeat containing, nuclear envelope 1							97.0	94.0	95.0					6																	152730772		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152730772G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6303C>T	6.37:g.152730772G>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.V2108V|SYNE1_uc003qou.3_Silent_p.V2101V|SYNE1_uc010kjb.1_Silent_p.V2084V	p.V2101V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	43	6905	-		Ovarian(120;0.0955)	2101			Cytoplasmic (Potential).|Potential.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.6303C>T	CCDS5236.2																																																																																				PASS	0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		34	78	34	78	---	---	---	---
IQCE	23288	broad.mit.edu	37	7	2617966	2617966	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:2617966G>A	ENST00000402050.2	+	7	740	c.556G>A	c.(556-558)Gag>Aag	p.E186K	IQCE_ENST00000438376.2_Missense_Mutation_p.E170K|IQCE_ENST00000404984.1_Missense_Mutation_p.E135K|IQCE_ENST00000325979.7_Missense_Mutation_p.E121K	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	186						mitochondrion (GO:0005739)		p.E186K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCGGCAGATAGAGCAGCTCCT	0.632																																						uc003smo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)GAG>AAG		IQ motif containing E isoform 1							56.0	64.0	62.0					7																	2617966		2072	4204	6276	SO:0001583	missense	23288							g.chr7:2617966G>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.556G>A	7.37:g.2617966G>A	ENSP00000385597:p.Glu186Lys					IQCE_uc010ksm.1_Missense_Mutation_p.E186K|IQCE_uc003sml.1_Missense_Mutation_p.E186K|IQCE_uc011jvy.1_Missense_Mutation_p.E170K|IQCE_uc011jvz.1_Missense_Mutation_p.E121K|IQCE_uc003smk.3_Missense_Mutation_p.E170K|IQCE_uc003smn.3_Missense_Mutation_p.E121K	p.E186K	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	7	740	+		Ovarian(82;0.0112)	186			Potential.		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.556G>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518890	0.85495	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11	5.5	3.67	0.42095	.	0.051261	0.85682	D	0.000000	T	0.25865	0.0630	M	0.75264	2.295	0.35209	D	0.774983	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.998	D;D;D;D;D;D	0.91635	0.998;0.996;0.999;0.985;0.996;0.994	T	0.24297	-1.0164	10	0.54805	T	0.06	-32.9598	10.2378	0.43294	0.0757:0.1371:0.7872:0.0	.	121;170;121;186;186;170	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	K	186;135;222;170;121;121;121	ENSP00000385597:E186K;ENSP00000385945:E135K;ENSP00000404643:E222K;ENSP00000396178:E170K;ENSP00000313772:E121K;ENSP00000413570:E121K	ENSP00000313772:E121K	E	+	1	0	IQCE	2584492	1.000000	0.71417	0.969000	0.41365	0.863000	0.49368	3.944000	0.56629	0.663000	0.31027	0.563000	0.77884	GAG		PASS	0.632	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		107	58	107	58	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14622694	14622694	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:14622694C>A	ENST00000403951.2	-	18	1924	c.1505G>T	c.(1504-1506)tGg>tTg	p.W502L	DGKB_ENST00000402815.1_Missense_Mutation_p.W501L|DGKB_ENST00000406247.3_Missense_Mutation_p.W502L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.W483L|DGKB_ENST00000399322.3_Missense_Mutation_p.W502L|DGKB_ENST00000258767.5_Missense_Mutation_p.W502L|DGKB_ENST00000407950.1_Missense_Mutation_p.W494L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	502	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.W502L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						ATCCAAAACCCAGCCCACGGT	0.408																																						uc003ssz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(1504-1506)TGG>TTG		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						69.0	70.0	70.0					7																	14622694		2037	4221	6258	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14622694C>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1505G>T	7.37:g.14622694C>A	ENSP00000385780:p.Trp502Leu					DGKB_uc011jxt.1_Missense_Mutation_p.W483L|DGKB_uc003sta.2_Missense_Mutation_p.W502L|DGKB_uc011jxu.1_Missense_Mutation_p.W501L	p.W502L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			17	1692	-			502			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1505G>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954933	0.92726	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.44	5.44	0.79542	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.67145	0.971;0.996;0.996;0.964	P;D;D;P	0.70487	0.902;0.969;0.969;0.831	T	0.55768	-0.8089	10	0.87932	D	0	.	19.2574	0.93951	0.0:1.0:0.0:0.0	.	501;483;502;502	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	L	502;502;502;501;494;483;502	ENSP00000385780:W502L;ENSP00000382260:W502L;ENSP00000258767:W502L;ENSP00000384909:W501L;ENSP00000385031:W494L;ENSP00000388451:W483L;ENSP00000386066:W502L	ENSP00000258767:W502L	W	-	2	0	DGKB	14589219	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.762000	0.85270	2.545000	0.85829	0.591000	0.81541	TGG		PASS	0.408	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		45	38	45	38	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23871951	23871951	+	Missense_Mutation	SNP	A	A	T	rs33998018	byFrequency	TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:23871951A>T	ENST00000355870.3	+	24	3145	c.3026A>T	c.(3025-3027)aAg>aTg	p.K1009M	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.K986M|STK31_ENST00000433467.2_Missense_Mutation_p.K986M|STK31_ENST00000354639.3_Missense_Mutation_p.K986M	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1009	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> T (in dbSNP:rs33998018).			acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.K1009M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTATGGAGAAGACAAGAAAT	0.318																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(3025-3027)AAG>ATG		serine/threonine kinase 31 isoform a							67.0	75.0	72.0					7																	23871951		2203	4299	6502	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871951A>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.3026A>T	7.37:g.23871951A>T	ENSP00000348132:p.Lys1009Met					STK31_uc003swt.3_Missense_Mutation_p.K986M|STK31_uc011jze.1_Missense_Mutation_p.K986M|STK31_uc010kuq.2_Missense_Mutation_p.K986M|STK31_uc003swv.1_Missense_Mutation_p.K175M	p.K1009M	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			24	3093	+			1009			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.3026A>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824721	0.50739	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.72394	-0.65;0.83;-0.64;-0.64	4.82	4.82	0.62117	Protein kinase, catalytic domain (1);	0.312477	0.27876	N	0.017486	T	0.77857	0.4193	L	0.51422	1.61	0.33616	D	0.604191	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.67231	0.927;0.95;0.95	D	0.84379	0.0548	10	0.87932	D	0	-6.7181	11.045	0.47852	1.0:0.0:0.0:0.0	.	986;1009;1009	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	M	1009;986;986;986	ENSP00000348132:K1009M;ENSP00000411852:K986M;ENSP00000346660:K986M;ENSP00000406146:K986M	ENSP00000346660:K986M	K	+	2	0	STK31	23838476	1.000000	0.71417	0.997000	0.53966	0.514000	0.34195	4.078000	0.57606	1.917000	0.55516	0.260000	0.18958	AAG		PASS	0.318	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		51	220	51	220	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27224431	27224431	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:27224431C>T	ENST00000006015.3	-	1	404	c.333G>A	c.(331-333)tcG>tcA	p.S111S	HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	111					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.S111S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						AGACGTTGGCCGAGCTCTTGG	0.657			T	NUP98	CML																																	uc003syx.2				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(331-333)TCG>TCA		homeobox A11							41.0	47.0	45.0					7																	27224431		2203	4299	6502	SO:0001819	synonymous_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27224431C>T		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.333G>A	7.37:g.27224431C>T						HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	p.S111S	NM_005523	NP_005514	P31270	HXA11_HUMAN			1	405	-			111					A4D190	Silent	SNP	ENST00000006015.3	37	c.333G>A	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420352	0.25552	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.35	3.43	0.39272	.	.	.	.	.	T	0.69396	0.3106	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67360	-0.5690	4	.	.	.	.	14.417	0.67158	0.0:0.6209:0.31:0.0692	.	.	.	.	Q	81	.	.	R	-	2	0	HOXA11	27190956	0.992000	0.36948	1.000000	0.80357	0.964000	0.63967	0.063000	0.14410	0.631000	0.30412	-0.810000	0.03169	CGG		PASS	0.657	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			128	70	128	70	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30492391	30492391	+	Silent	SNP	C	C	T	rs72551111	byFrequency	TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:30492391C>T	ENST00000222823.4	-	6	1167	c.642G>A	c.(640-642)cgG>cgA	p.R214R	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	214	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.R214R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGCTCTGCAGCCGCTGTAGCA	0.602																																						uc003tav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(640-642)CGG>CGA		nucleotide-binding oligomerization domain							75.0	76.0	76.0					7																	30492391		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492391C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.642G>A	7.37:g.30492391C>T						NOD1_uc010kvs.2_Intron	p.R214R	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	1165	-			214			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.642G>A	CCDS5427.1																																																																																				PASS	0.602	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			58	173	58	173	---	---	---	---
TBX20	57057	broad.mit.edu	37	7	35289771	35289771	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:35289771G>T	ENST00000408931.3	-	2	698	c.172C>A	c.(172-174)Ctg>Atg	p.L58M		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	58					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.L58M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGGCTGGTCAGCTCACCCAGG	0.562																																						uc011kas.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(172-174)CTG>ATG		T-box transcription factor TBX20							42.0	43.0	43.0					7																	35289771		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35289771G>T	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.172C>A	7.37:g.35289771G>T	ENSP00000386170:p.Leu58Met						p.L58M	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			2	183	-			58					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.172C>A	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416222	0.42918	.	.	ENSG00000164532	ENST00000408931	D	0.88354	-2.37	5.59	5.59	0.84812	.	1196.300000	0.00166	N	0.000000	D	0.85923	0.5810	N	0.24115	0.695	0.49213	D	0.999761	P	0.36065	0.535	B	0.40506	0.331	T	0.69506	-0.5127	10	0.33141	T	0.24	.	9.668	0.39996	0.0722:0.0:0.7875:0.1403	.	58	Q9UMR3	TBX20_HUMAN	M	58	ENSP00000386170:L58M	ENSP00000386170:L58M	L	-	1	2	TBX20	35256296	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.113000	0.57851	2.625000	0.88918	0.655000	0.94253	CTG		PASS	0.562	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		46	40	46	40	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103841	53103841	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:53103841C>T	ENST00000408890.4	+	1	493	c.477C>T	c.(475-477)cgC>cgT	p.R159R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159								p.R159R(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGAGAgcccgccccgcaggcc	0.726																																						uc003tpz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(475-477)CGC>CGT		POM121 membrane glycoprotein-like 12							12.0	16.0	15.0					7																	53103841		1848	4061	5909	SO:0001819	synonymous_variant	285877							g.chr7:53103841C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.477C>T	7.37:g.53103841C>T							p.R159R	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	493	+			159					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.477C>T	CCDS43584.1																																																																																				PASS	0.726	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		46	26	46	26	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83014679	83014679	+	Nonsense_Mutation	SNP	A	A	T	rs371092782		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:83014679A>T	ENST00000307792.3	-	16	2273	c.1806T>A	c.(1804-1806)tgT>tgA	p.C602*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.C542*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	602	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.C602*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATCGTGGGGTACATTCCAGCA	0.398																																						uc003uhy.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1804-1806)TGT>TGA		semaphorin 3E precursor							208.0	184.0	192.0					7																	83014679		2203	4300	6503	SO:0001587	stop_gained	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83014679A>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1806T>A	7.37:g.83014679A>T	ENSP00000303212:p.Cys602*						p.C602*	NM_012431	NP_036563	O15041	SEM3E_HUMAN			16	2272	-		Medulloblastoma(109;0.109)	602			Ig-like C2-type.		B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	c.1806T>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	A	37	6.141477	0.97320	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.54	-7.04	0.01578	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6604	0.91470	0.2878:0.0:0.7122:0.0	.	.	.	.	X	602;542;602	.	ENSP00000303212:C602X	C	-	3	2	SEMA3E	82852615	0.404000	0.25328	0.750000	0.31169	0.952000	0.60782	-0.114000	0.10757	-1.290000	0.02372	-0.248000	0.11899	TGT		PASS	0.398	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		388	91	388	91	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87183214	87183214	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:87183214C>A	ENST00000265724.3	-	10	1279	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W	ABCB1_ENST00000543898.1_Missense_Mutation_p.G224W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	288	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G288W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTCTTTATCCCAATTCTTTTA	0.353																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(862-864)GGG>TGG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						177.0	167.0	170.0					7																	87183214		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87183214C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.862G>T	7.37:g.87183214C>A	ENSP00000265724:p.Gly288Trp					ABCB1_uc011khc.1_Missense_Mutation_p.G224W	p.G288W	NM_000927	NP_000918	P08183	MDR1_HUMAN			10	1280	-	Esophageal squamous(14;0.00164)		288			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.862G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782780	0.90282	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90955	-2.76;-2.76	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98070	1.0398	10	0.87932	D	0	-17.4413	19.8764	0.96873	0.0:1.0:0.0:0.0	.	224;288	B5AK60;P08183	.;MDR1_HUMAN	W	69;288;224	ENSP00000265724:G288W;ENSP00000444095:G224W	ENSP00000265724:G288W	G	-	1	0	ABCB1	87021150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.764000	0.85297	2.768000	0.95171	0.655000	0.94253	GGG		PASS	0.353	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		149	59	149	59	---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87537407	87537407	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:87537407G>C	ENST00000265728.1	+	12	2458	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	652					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E652Q(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TATTTGGGAAGAGGAAAATTC	0.333																																						uc003ujf.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1954-1956)GAG>CAG		activator of S phase kinase							49.0	53.0	52.0					7																	87537407		2203	4299	6502	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87537407G>C	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1954G>C	7.37:g.87537407G>C	ENSP00000265728:p.Glu652Gln					DBF4_uc003ujh.1_Missense_Mutation_p.E392Q|DBF4_uc003ujg.1_Missense_Mutation_p.E428Q|DBF4_uc011khf.1_Missense_Mutation_p.E419Q	p.E652Q	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			12	2458	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	652					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1954G>C	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784564	0.49997	.	.	ENSG00000006634	ENST00000265728	T	0.34667	1.35	5.14	3.32	0.38043	.	0.401231	0.23228	N	0.050493	T	0.33702	0.0872	L	0.27053	0.805	0.25043	N	0.991183	D;D	0.60575	0.988;0.966	P;P	0.53313	0.723;0.543	T	0.09729	-1.0661	10	0.32370	T	0.25	-4.7311	9.7009	0.40187	0.1602:0.0:0.8398:0.0	.	428;652	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	Q	652	ENSP00000265728:E652Q	ENSP00000265728:E652Q	E	+	1	0	DBF4	87375343	1.000000	0.71417	0.872000	0.34217	0.852000	0.48524	3.713000	0.54882	0.560000	0.29169	0.655000	0.94253	GAG		PASS	0.333	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		114	28	114	28	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965553	88965553	+	Missense_Mutation	SNP	C	C	A	rs141579525	byFrequency	TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:88965553C>A	ENST00000333190.4	+	4	3866	c.3257C>A	c.(3256-3258)aCt>aAt	p.T1086N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1086							metal ion binding (GO:0046872)	p.T1086N(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTGGTGTGACTGATTCAACA	0.353										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3256-3258)ACT>AAT		zinc finger protein 804B							55.0	54.0	54.0					7																	88965553		2202	4299	6501	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965553C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3257C>A	7.37:g.88965553C>A	ENSP00000329638:p.Thr1086Asn	HNSCC(36;0.09)					p.T1086N	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3795	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1086					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3257C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	4.552	0.102574	0.08731	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	4.77	1.94	0.25998	.	0.887861	0.09842	N	0.748721	T	0.04634	0.0126	L	0.29908	0.895	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.40961	-0.9535	10	0.44086	T	0.13	0.0263	3.5384	0.07802	0.1322:0.5672:0.1461:0.1545	.	1086	A4D1E1	Z804B_HUMAN	N	1086	ENSP00000329638:T1086N	ENSP00000329638:T1086N	T	+	2	0	ZNF804B	88803489	0.102000	0.21896	0.038000	0.18304	0.675000	0.39556	0.870000	0.28010	0.702000	0.31825	0.655000	0.94253	ACT		PASS	0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		108	23	108	23	---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106786829	106786829	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:106786829G>T	ENST00000265717.4	+	6	923	c.664G>T	c.(664-666)Ggc>Tgc	p.G222C		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	222					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.G222C(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TGGGAGTTTCGGCGAACTGGC	0.428																																						uc003vdx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(664-666)GGC>TGC		cAMP-dependent protein kinase, regulatory							195.0	168.0	178.0					7																	106786829		2203	4300	6503	SO:0001583	missense	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106786829G>T		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.664G>T	7.37:g.106786829G>T	ENSP00000265717:p.Gly222Cys						p.G222C	NM_002736	NP_002727	P31323	KAP3_HUMAN			6	839	+			222			cAMP 1.		A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	c.664G>T	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126892	0.94429	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	T	0.78924	-1.22	5.57	5.57	0.84162	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96494	0.9366	10	0.87932	D	0	-16.7721	19.5505	0.95315	0.0:0.0:1.0:0.0	.	222	P31323	KAP3_HUMAN	C	222;222;209	ENSP00000265717:G222C	ENSP00000265717:G222C	G	+	1	0	PRKAR2B	106574065	1.000000	0.71417	0.877000	0.34402	0.976000	0.68499	9.807000	0.99171	2.641000	0.89580	0.655000	0.94253	GGC		PASS	0.428	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			172	45	172	45	---	---	---	---
DNAJB9	4189	broad.mit.edu	37	7	108213723	108213723	+	Missense_Mutation	SNP	A	A	G	rs199929387		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:108213723A>G	ENST00000249356.3	+	3	1144	c.598A>G	c.(598-600)Agc>Ggc	p.S200G	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	200					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)	p.S200G(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TCATGGATCTAGCAAGCACTG	0.368																																						uc003vfn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)AGC>GGC		DnaJ (Hsp40) homolog, subfamily B, member 9							113.0	112.0	113.0					7																	108213723		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108213723A>G	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.598A>G	7.37:g.108213723A>G	ENSP00000249356:p.Ser200Gly						p.S200G	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN			3	800	+			200						Missense_Mutation	SNP	ENST00000249356.3	37	c.598A>G	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824081	0.32237	.	.	ENSG00000128590	ENST00000249356	T	0.59502	0.26	5.86	4.52	0.55395	.	0.165502	0.64402	D	0.000003	T	0.43831	0.1265	L	0.33485	1.01	0.39554	D	0.969025	B	0.02656	0.0	B	0.06405	0.002	T	0.35351	-0.9792	9	.	.	.	.	11.7445	0.51811	0.9203:0.0:0.0797:0.0	.	200	Q9UBS3	DNJB9_HUMAN	G	200	ENSP00000249356:S200G	.	S	+	1	0	DNAJB9	108000959	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.499000	0.45372	2.240000	0.73641	0.533000	0.62120	AGC		PASS	0.368	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			264	76	264	76	---	---	---	---
FEZF1	389549	broad.mit.edu	37	7	121942061	121942061	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:121942061C>T	ENST00000442488.2	-	4	1485	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D	FEZF1_ENST00000331178.4_Missense_Mutation_p.G469D|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.G423D	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	473					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.G469D(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TCACTGGTGGCCCTGGTGGAG	0.721																																						uc003vkd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1417-1419)GGC>GAC		FEZ family zinc finger 1 isoform 1							16.0	19.0	18.0					7																	121942061		2104	4146	6250	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942061C>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1418G>A	7.37:g.121942061C>T	ENSP00000411145:p.Gly473Asp					FEZF1_uc003vkc.2_Missense_Mutation_p.G423D|uc010lko.1_5'Flank	p.G473D	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			4	1492	-			473					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.1418G>A	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	14.33	2.501872	0.44455	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07688	3.17;3.4;3.26	4.65	3.76	0.43208	.	0.000000	0.45361	D	0.000367	T	0.06645	0.0170	N	0.19112	0.55	0.33579	D	0.599606	B;B	0.21225	0.031;0.053	B;B	0.18263	0.016;0.021	T	0.07654	-1.0761	10	0.72032	D	0.01	-17.2466	12.3813	0.55309	0.0:0.8163:0.1837:0.0	.	473;423	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	D	473;469;423	ENSP00000411145:G473D;ENSP00000332777:G469D;ENSP00000392727:G423D	ENSP00000332777:G469D	G	-	2	0	FEZF1	121729297	0.993000	0.37304	1.000000	0.80357	0.972000	0.66771	1.815000	0.38981	1.155000	0.42497	0.561000	0.74099	GGC		PASS	0.721	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		78	27	78	27	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122774573	122774573	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:122774573C>T	ENST00000194130.2	-	8	862	c.823G>A	c.(823-825)Gac>Aac	p.D275N	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	275					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.D275N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAACGACAGTCAGGATAGCGT	0.483																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(823-825)GAC>AAC		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						168.0	136.0	147.0					7																	122774573		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122774573C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.823G>A	7.37:g.122774573C>T	ENSP00000194130:p.Asp275Asn					SLC13A1_uc010lks.2_Missense_Mutation_p.D151N	p.D275N	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			8	848	-			275					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.823G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	7.386	0.629693	0.14257	.	.	ENSG00000081800	ENST00000194130	T	0.02525	4.26	5.72	4.84	0.62591	.	0.609455	0.19256	N	0.118801	T	0.03178	0.0093	L	0.41573	1.285	0.80722	D	1	B;B	0.23990	0.095;0.095	B;B	0.25987	0.065;0.065	T	0.33111	-0.9881	10	0.07482	T	0.82	-11.4408	12.7064	0.57063	0.0:0.9199:0.0:0.0801	.	275;275	A4D0X1;Q9BZW2	.;S13A1_HUMAN	N	275	ENSP00000194130:D275N	ENSP00000194130:D275N	D	-	1	0	SLC13A1	122561809	0.957000	0.32711	0.860000	0.33809	0.342000	0.28953	1.757000	0.38400	1.551000	0.49450	0.655000	0.94253	GAC		PASS	0.483	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		101	34	101	34	---	---	---	---
OPN1SW	611	broad.mit.edu	37	7	128412600	128412600	+	Silent	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:128412600G>C	ENST00000249389.2	-	5	1040	c.1041C>G	c.(1039-1041)ccC>ccG	p.P347P		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	347					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.P347P(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GTCCTCAGTTGGGGCCAACTT	0.423																																						uc003vnt.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1039-1041)CCC>CCG		opsin 1 (cone pigments), short-wave-sensitive							147.0	128.0	134.0					7																	128412600		2203	4300	6503	SO:0001819	synonymous_variant	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128412600G>C	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.1041C>G	7.37:g.128412600G>C							p.P347P	NM_001708	NP_001699	P03999	OPSB_HUMAN			5	1041	-			347			Cytoplasmic (Potential).		Q13877	Silent	SNP	ENST00000249389.2	37	c.1041C>G	CCDS5806.1																																																																																				PASS	0.423	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		130	36	130	36	---	---	---	---
AKR1B10	57016	broad.mit.edu	37	7	134222968	134222968	+	Missense_Mutation	SNP	A	A	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:134222968A>C	ENST00000359579.4	+	8	1084	c.764A>C	c.(763-765)cAg>cCg	p.Q255P		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	255					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)	p.Q255P(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TTCCATATCCAGAGGAATGTG	0.488																																						uc003vrr.2																			1	Substitution - Missense(1)		lung(1)	skin(5)	5						c.(763-765)CAG>CCG		aldo-keto reductase family 1, member B10							243.0	217.0	226.0					7																	134222968		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134222968A>C	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.764A>C	7.37:g.134222968A>C	ENSP00000352584:p.Gln255Pro						p.Q255P	NM_020299	NP_064695	O60218	AK1BA_HUMAN			8	1084	+			255					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.764A>C	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	-	19.25	3.791754	0.70452	.	.	ENSG00000198074	ENST00000359579	T	0.19532	2.14	4.53	4.53	0.55603	NADP-dependent oxidoreductase domain (3);	0.116062	0.64402	D	0.000012	T	0.65004	0.2650	H	0.99169	4.455	0.58432	D	0.999996	P	0.48350	0.909	D	0.75020	0.985	T	0.79293	-0.1863	10	0.87932	D	0	.	13.37	0.60707	1.0:0.0:0.0:0.0	.	255	O60218	AK1BA_HUMAN	P	255	ENSP00000352584:Q255P	ENSP00000352584:Q255P	Q	+	2	0	AKR1B10	133873508	1.000000	0.71417	0.995000	0.50966	0.765000	0.43378	6.881000	0.75584	1.817000	0.53016	0.454000	0.30748	CAG		PASS	0.488	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		337	117	337	117	---	---	---	---
KLRG2	346689	broad.mit.edu	37	7	139168033	139168033	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:139168033C>A	ENST00000340940.4	-	1	425	c.356G>T	c.(355-357)tGg>tTg	p.W119L	KLRG2_ENST00000393039.2_Missense_Mutation_p.W119L	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	119	Pro-rich.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.W119L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CATGGGCGCCCAGGCGCTGGG	0.746																																						uc003vvb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(355-357)TGG>TTG		killer cell lectin-like receptor subfamily G,							4.0	5.0	5.0					7																	139168033		1608	3436	5044	SO:0001583	missense	346689					integral to membrane	sugar binding	g.chr7:139168033C>A	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.356G>T	7.37:g.139168033C>A	ENSP00000339356:p.Trp119Leu					KLRG2_uc010lnc.2_Missense_Mutation_p.W119L	p.W119L	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN			1	425	-	Melanoma(164;0.233)		119			Pro-rich.		Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	c.356G>T	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151897	0.57151	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.65364	3.02;-0.15	3.44	3.44	0.39384	.	0.000000	0.34025	U	0.004333	T	0.65554	0.2702	L	0.34521	1.04	0.31328	N	0.685128	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.924	T	0.68542	-0.5381	10	0.87932	D	0	-7.3543	10.2237	0.43212	0.0:1.0:0.0:0.0	.	119;119	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	L	119	ENSP00000339356:W119L;ENSP00000376759:W119L	ENSP00000339356:W119L	W	-	2	0	KLRG2	138818573	1.000000	0.71417	0.997000	0.53966	0.216000	0.24613	2.578000	0.46051	1.727000	0.51537	0.484000	0.47621	TGG		PASS	0.746	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1	NM_198508		27	2	27	2	---	---	---	---
ZNF775	285971	broad.mit.edu	37	7	150095047	150095047	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr7:150095047G>T	ENST00000329630.5	+	3	1585	c.1478G>T	c.(1477-1479)cGg>cTg	p.R493L		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	493					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.R493L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGCGGCACCGGCGCAACCAC	0.721																																						uc003whf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1477-1479)CGG>CTG		zinc finger protein 775							12.0	15.0	14.0					7																	150095047		2179	4252	6431	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150095047G>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1478G>T	7.37:g.150095047G>T	ENSP00000330838:p.Arg493Leu					LOC728743_uc003whg.2_5'Flank	p.R493L	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1603	+	Ovarian(565;0.183)|Melanoma(164;0.226)		493			C2H2-type 10.		Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.1478G>T	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764072	0.49574	.	.	ENSG00000196456	ENST00000329630	T	0.14391	2.51	3.95	0.829	0.18847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	N	0.05534	-0.03	0.27476	N	0.952733	P	0.40180	0.705	B	0.42422	0.387	T	0.25467	-1.0131	8	.	.	.	.	2.613	0.04896	0.3797:0.0:0.4058:0.2145	.	493	Q96BV0	ZN775_HUMAN	L	493	ENSP00000330838:R493L	.	R	+	2	0	ZNF775	149725980	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-0.683000	0.05179	0.343000	0.23821	0.563000	0.77884	CGG		PASS	0.721	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		10	22	10	22	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2964070	2964070	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:2964070C>T	ENST00000520002.1	-	47	7487	c.6932G>A	c.(6931-6933)gGt>gAt	p.G2311D	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2310D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2311D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2310D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2311D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2311D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2311	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G2310D(1)|p.G2039D(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGGAGAGAACCCTCAAACTG	0.433																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6931-6933)GGT>GAT		CUB and Sushi multiple domains 1 precursor							62.0	60.0	60.0					8																	2964070		1910	4138	6048	SO:0001583	missense	64478					integral to membrane		g.chr8:2964070C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6932G>A	8.37:g.2964070C>T	ENSP00000430733:p.Gly2311Asp					CSMD1_uc011kwj.1_Missense_Mutation_p.G1703D|CSMD1_uc010lrg.2_Missense_Mutation_p.G379D	p.G2311D	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	46	7322	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2311			Extracellular (Potential).|Sushi 13.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6932G>A		.	.	.	.	.	.	.	.	.	.	C	14.57	2.575191	0.45902	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.226278	0.37393	N	0.002111	T	0.49830	0.1580	M	0.64404	1.975	0.80722	D	1	D;P;P	0.89917	1.0;0.925;0.735	D;P;P	0.91635	0.999;0.794;0.462	T	0.35001	-0.9806	10	0.33940	T	0.23	.	18.9876	0.92779	0.0:1.0:0.0:0.0	.	2311;2311;2310	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	D	2311;2311;2172;2310;2310	ENSP00000383047:G2311D;ENSP00000430733:G2311D;ENSP00000441462:G2310D;ENSP00000446243:G2310D	ENSP00000320445:G2172D	G	-	2	0	CSMD1	2951477	0.970000	0.33590	0.428000	0.26697	0.043000	0.13939	3.457000	0.53007	2.476000	0.83614	0.557000	0.71058	GGT		PASS	0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		14	42	14	42	---	---	---	---
DOK2	9046	broad.mit.edu	37	8	21769789	21769789	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:21769789G>T	ENST00000276420.4	-	2	554	c.296C>A	c.(295-297)gCa>gAa	p.A99E	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	99	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.A99E(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCGCTCCGCTGCAGGGGCCGC	0.736																																						uc003wzy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GCA>GAA		docking protein 2							8.0	11.0	10.0					8																	21769789		2169	4274	6443	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21769789G>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.296C>A	8.37:g.21769789G>T	ENSP00000276420:p.Ala99Glu					DOK2_uc003wzx.1_Missense_Mutation_p.A99E|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron	p.A99E	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	389	-			99			PH.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.296C>A	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.410318	0.01145	.	.	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.40225	2.02;1.04	5.11	3.15	0.36227	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.946276	0.08770	N	0.896469	T	0.27454	0.0674	N	0.19112	0.55	0.21064	N	0.999799	B;B	0.19445	0.036;0.004	B;B	0.12837	0.008;0.008	T	0.05386	-1.0888	10	0.02654	T	1	.	14.7061	0.69191	0.0:0.404:0.5959:0.0	.	99;99	O60496;A8K7W1	DOK2_HUMAN;.	E	99	ENSP00000276420:A99E;ENSP00000429224:A99E	ENSP00000276420:A99E	A	-	2	0	DOK2	21825735	0.000000	0.05858	0.002000	0.10522	0.054000	0.15201	0.807000	0.27140	1.116000	0.41820	0.655000	0.94253	GCA		PASS	0.736	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		5	8	5	8	---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24304711	24304711	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:24304711G>A	ENST00000175238.6	+	3	252	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	ADAM7_ENST00000380789.1_Missense_Mutation_p.E57K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.E57K	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E57K(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AACGTATGAAGAAGAATTGTT	0.353																																						uc003xeb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(169-171)GAA>AAA		a disintegrin and metalloproteinase domain 7							147.0	149.0	148.0					8																	24304711		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24304711G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.169G>A	8.37:g.24304711G>A	ENSP00000175238:p.Glu57Lys					ADAM7_uc003xea.1_Missense_Mutation_p.E57K	p.E57K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	3	282	+		Prostate(55;0.0181)	57			Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.169G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256655	0.22965	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.06849	3.25;3.25;3.25	4.33	2.54	0.30619	Peptidase M12B, propeptide (1);	0.566129	0.15979	N	0.235387	T	0.10766	0.0263	M	0.66439	2.03	0.80722	D	1	P;P	0.44139	0.77;0.827	B;B	0.42625	0.34;0.393	T	0.11690	-1.0577	10	0.35671	T	0.21	.	6.7021	0.23230	0.2117:0.0:0.7883:0.0	.	57;57	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	K	57	ENSP00000393073:E57K;ENSP00000175238:E57K;ENSP00000370166:E57K	ENSP00000175238:E57K	E	+	1	0	ADAM7	24360601	1.000000	0.71417	0.911000	0.35937	0.106000	0.19336	1.544000	0.36158	0.771000	0.33359	0.655000	0.94253	GAA		PASS	0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		44	116	44	116	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35631845	35631845	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:35631845C>T	ENST00000404895.2	+	16	2835	c.2507C>T	c.(2506-2508)gCa>gTa	p.A836V	UNC5D_ENST00000287272.2_Missense_Mutation_p.A767V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A769V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A412V|UNC5D_ENST00000416672.1_Missense_Mutation_p.A841V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A831V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	836					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.A831V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACTTTCTTCGCACAAGAGGAC	0.428																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2506-2508)GCA>GTA		unc-5 homolog D precursor							140.0	134.0	136.0					8																	35631845		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35631845C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2507C>T	8.37:g.35631845C>T	ENSP00000385143:p.Ala836Val					UNC5D_uc003xjs.1_Missense_Mutation_p.A831V|UNC5D_uc003xju.1_Missense_Mutation_p.A412V	p.A836V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	16	2835	+			836			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2507C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	4.266	0.048426	0.08243	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.55588	0.54;1.0;1.0;0.54;0.51;2.45	5.95	5.95	0.96441	.	0.260814	0.43579	D	0.000552	T	0.42337	0.1198	L	0.29908	0.895	0.39310	D	0.965053	B;B;B	0.31581	0.146;0.228;0.329	B;B;B	0.27796	0.038;0.083;0.038	T	0.30851	-0.9964	10	0.33141	T	0.24	-18.4257	17.3038	0.87189	0.0:0.8751:0.1249:0.0	.	412;831;836	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	836;769;767;841;831;412	ENSP00000385143:A836V;ENSP00000392739:A769V;ENSP00000287272:A767V;ENSP00000412652:A841V;ENSP00000394303:A831V;ENSP00000397211:A412V	ENSP00000287272:A767V	A	+	2	0	UNC5D	35751387	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.067000	0.41461	2.827000	0.97445	0.650000	0.86243	GCA		PASS	0.428	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			39	228	39	228	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38940183	38940183	+	Silent	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:38940183A>T	ENST00000487273.2	+	17	1983	c.1905A>T	c.(1903-1905)gtA>gtT	p.V635V	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	635					activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.V635V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TCCAGTGTGTAGATGCTTCTG	0.358																																						uc003xmr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1903-1905)GTA>GTT		ADAM metallopeptidase domain 9 isoform 1							174.0	167.0	170.0					8																	38940183		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38940183A>T	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1905A>T	8.37:g.38940183A>T						ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	p.V635V	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		17	1983	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	635			Extracellular (Potential).		B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.1905A>T	CCDS6112.1																																																																																				PASS	0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			35	225	35	225	---	---	---	---
SOX17	64321	broad.mit.edu	37	8	55371731	55371731	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:55371731C>A	ENST00000297316.4	+	2	625	c.421C>A	c.(421-423)Cgg>Agg	p.R141R		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	141					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R141R(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCGGCCGCGGCGGCGCAAGCA	0.741																																						uc003xsb.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(421-423)CGG>AGG		SRY-box 17							13.0	14.0	13.0					8																	55371731		2160	4240	6400	SO:0001819	synonymous_variant	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55371731C>A	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.421C>A	8.37:g.55371731C>A							p.R141R	NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	625	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	141						Silent	SNP	ENST00000297316.4	37	c.421C>A	CCDS6159.1																																																																																				PASS	0.741	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			3	9	3	9	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55542773	55542773	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:55542773G>A	ENST00000220676.1	+	4	6479	c.6331G>A	c.(6331-6333)Gtt>Att	p.V2111I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2111					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.V2111I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTTGCCAAGTTGAGACCTC	0.333																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(6331-6333)GTT>ATT		retinitis pigmentosa RP1 protein							52.0	57.0	55.0					8																	55542773		2203	4293	6496	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542773G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6331G>A	8.37:g.55542773G>A	ENSP00000220676:p.Val2111Ile					RP1_uc011ldy.1_Intron	p.V2111I	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6479	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2111						Missense_Mutation	SNP	ENST00000220676.1	37	c.6331G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173648	0.38413	.	.	ENSG00000104237	ENST00000220676	T	0.28255	1.62	5.43	2.51	0.30379	.	0.787203	0.10767	N	0.636511	T	0.21631	0.0521	L	0.34521	1.04	0.19300	N	0.999978	B	0.15141	0.012	B	0.15052	0.012	T	0.22591	-1.0212	10	0.45353	T	0.12	.	5.2408	0.15471	0.2424:0.2846:0.473:0.0	.	2111	P56715	RP1_HUMAN	I	2111	ENSP00000220676:V2111I	ENSP00000220676:V2111I	V	+	1	0	RP1	55705326	0.958000	0.32768	0.972000	0.41901	0.980000	0.70556	0.113000	0.15499	0.580000	0.29522	0.655000	0.94253	GTT		PASS	0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		76	83	76	83	---	---	---	---
ADHFE1	137872	broad.mit.edu	37	8	67369056	67369056	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:67369056G>A	ENST00000396623.3	+	11	1022	c.991G>A	c.(991-993)Gga>Aga	p.G331R	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.G283R	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	331					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.G331R(1)|p.G283R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTCTAGCCATGGAATGTCTTA	0.348																																						uc003xwb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(991-993)GGA>AGA		alcohol dehydrogenase, iron containing, 1							53.0	55.0	54.0					8																	67369056		2202	4300	6502	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67369056G>A	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.991G>A	8.37:g.67369056G>A	ENSP00000379865:p.Gly331Arg					ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.G283R|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.G261R	p.G331R	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		11	1025	+		Lung NSC(129;0.197)	331					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.991G>A	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908048	0.92107	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.47177	0.85;0.85	5.56	5.56	0.83823	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	H	0.96015	3.755	0.80722	D	1	D	0.63046	0.992	D	0.72075	0.976	D	0.86195	0.1615	10	0.87932	D	0	-21.0177	19.5275	0.95212	0.0:0.0:1.0:0.0	.	331	Q8IWW8	HOT_HUMAN	R	331;283	ENSP00000379865:G331R;ENSP00000407115:G283R	ENSP00000379865:G331R	G	+	1	0	ADHFE1	67531610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.368000	0.97152	2.603000	0.88011	0.563000	0.77884	GGA		PASS	0.348	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		21	92	21	92	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86118434	86118434	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:86118434G>A	ENST00000416274.2	+	4	563	c.529G>A	c.(529-531)Gac>Aac	p.D177N	E2F5_ENST00000418930.2_Missense_Mutation_p.D177N|E2F5_ENST00000517476.1_Missense_Mutation_p.D16N|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.D178N|E2F5_ENST00000521429.1_Silent_p.K2K	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	177	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|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)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D177N(1)		NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AACTCATGAAGACATCTGTAA	0.368																																						uc003ycz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(529-531)GAC>AAC		E2F transcription factor 5 isoform 1							175.0	174.0	174.0					8																	86118434		1869	4121	5990	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86118434G>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.529G>A	8.37:g.86118434G>A	ENSP00000398124:p.Asp177Asn					E2F5_uc003yda.3_Missense_Mutation_p.D177N|E2F5_uc010mab.2_Missense_Mutation_p.D16N|E2F5_uc003ydb.3_5'UTR	p.D177N	NM_001951	NP_001942	Q15329	E2F5_HUMAN			4	566	+			177			Dimerization (Potential).		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.529G>A	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737282	0.96865	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000518234	D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	M	0.92026	3.265	0.80722	D	1	D;D	0.64830	0.992;0.994	P;P	0.59012	0.833;0.85	D	0.98860	1.0762	10	0.87932	D	0	-17.9343	20.6439	0.99570	0.0:0.0:1.0:0.0	.	177;177	Q15329-2;Q15329	.;E2F5_HUMAN	N	177;178;177;16;13	ENSP00000414312:D177N;ENSP00000256117:D178N;ENSP00000398124:D177N;ENSP00000429120:D16N;ENSP00000429669:D13N	ENSP00000256117:D178N	D	+	1	0	E2F5	86305686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.928000	0.92853	2.884000	0.98904	0.655000	0.94253	GAC		PASS	0.368	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		19	118	19	118	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87679296	87679296	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:87679296G>T	ENST00000320005.5	-	6	756	c.709C>A	c.(709-711)Cca>Aca	p.P237T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	237					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.P237T(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGGCGCAGTGGTATAAAACAG	0.423																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(709-711)CCA>ACA		cyclic nucleotide gated channel beta 3							108.0	99.0	102.0					8																	87679296		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87679296G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.709C>A	8.37:g.87679296G>T	ENSP00000316605:p.Pro237Thr					CNGB3_uc010maj.2_Missense_Mutation_p.P99T	p.P237T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			6	755	-			237			Helical; Name=H1; (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.709C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995360	0.54147	.	.	ENSG00000170289	ENST00000320005	T	0.55760	0.5	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.63169	1.94	0.80722	D	1	D;D	0.59357	0.985;0.974	P;P	0.57846	0.828;0.677	T	0.61187	-0.7113	10	0.27082	T	0.32	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	237;237	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	T	237	ENSP00000316605:P237T	ENSP00000316605:P237T	P	-	1	0	CNGB3	87748412	1.000000	0.71417	0.888000	0.34837	0.752000	0.42762	6.564000	0.73969	2.608000	0.88229	0.655000	0.94253	CCA		PASS	0.423	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		68	75	68	75	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885771	88885771	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:88885771C>A	ENST00000319675.3	-	1	525	c.429G>T	c.(427-429)ctG>ctT	p.L143L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	143								p.L143L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGAAGCACAGCAGAAGGTGGG	0.562																																						uc003ydz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(427-429)CTG>CTT		WD repeat domain 21C							94.0	89.0	91.0					8																	88885771		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885771C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.429G>T	8.37:g.88885771C>A							p.L143L	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	526	-			143						Silent	SNP	ENST00000319675.3	37	c.429G>T	CCDS6245.1																																																																																				PASS	0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		50	150	50	150	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113259299	113259299	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:113259299C>A	ENST00000297405.5	-	64	10416	c.10172G>T	c.(10171-10173)cGc>cTc	p.R3391L	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3321L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3222L|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3351L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3391	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3391L(1)|p.R3351L(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						GAGGCAGGTGCGTGTTGTAGA	0.398										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.(10171-10173)CGC>CTC		CUB and Sushi multiple domains 3 isoform 1							132.0	115.0	121.0					8																	113259299		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113259299C>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.10172G>T	8.37:g.113259299C>A	ENSP00000297405:p.Arg3391Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R2593L|CSMD3_uc003ynt.2_Missense_Mutation_p.R3351L|CSMD3_uc011lhx.1_Missense_Mutation_p.R3222L	p.R3391L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			64	10331	-			3391			Extracellular (Potential).|Sushi 27.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10172G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166827	0.78339	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	4.79	4.79	0.61399	Complement control module (2);Sushi/SCR/CCP (3);	0.074567	0.48767	D	0.000168	T	0.73241	0.3562	L	0.59436	1.845	0.49687	D	0.999811	B;D;D	0.76494	0.058;0.999;0.997	B;D;D	0.74348	0.122;0.983;0.968	T	0.66392	-0.5935	10	0.08837	T	0.75	.	18.3643	0.90385	0.0:1.0:0.0:0.0	.	3222;3391;3351	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3351;3391;2661;3222;3321	ENSP00000345799:R3351L;ENSP00000297405:R3391L;ENSP00000341558:R2661L;ENSP00000412263:R3222L;ENSP00000343124:R3321L	ENSP00000297405:R3391L	R	-	2	0	CSMD3	113328475	0.983000	0.35010	0.259000	0.24435	0.524000	0.34500	7.562000	0.82300	2.649000	0.89929	0.460000	0.39030	CGC		PASS	0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		44	64	44	64	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113484893	113484893	+	Silent	SNP	T	T	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:113484893T>G	ENST00000297405.5	-	32	5566	c.5322A>C	c.(5320-5322)ctA>ctC	p.L1774L	AC024996.1_ENST00000582664.1_RNA|CSMD3_ENST00000352409.3_Silent_p.L1774L|CSMD3_ENST00000455883.2_Silent_p.L1670L|CSMD3_ENST00000343508.3_Silent_p.L1734L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1774	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1734L(1)|p.L1774L(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						AGTTTGGTGATAGAACAGTGC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5320-5322)CTA>CTC		CUB and Sushi multiple domains 3 isoform 1							111.0	105.0	107.0					8																	113484893		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113484893T>G	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.5322A>C	8.37:g.113484893T>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.L1046L|CSMD3_uc003ynt.2_Silent_p.L1734L|CSMD3_uc011lhx.1_Silent_p.L1670L	p.L1774L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			32	5481	-			1774			Extracellular (Potential).|CUB 10.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.5322A>C	CCDS6315.1																																																																																				PASS	0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		34	90	34	90	---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140631126	140631126	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:140631126C>G	ENST00000520439.1	-	2	563	c.500G>C	c.(499-501)tGc>tCc	p.C167S	KCNK9_ENST00000303015.1_Missense_Mutation_p.C167S|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	167					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.C167S(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGTCCCCATGCAGGAGAAGAA	0.557																																						uc003yvf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(499-501)TGC>TCC		potassium channel, subfamily K, member 9							131.0	112.0	118.0					8																	140631126		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631126C>G	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.500G>C	8.37:g.140631126C>G	ENSP00000430676:p.Cys167Ser					KCNK9_uc003yvg.1_Missense_Mutation_p.C167S|KCNK9_uc003yve.1_RNA	p.C167S	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	564	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	167			Helical; (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.500G>C	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148896	0.57151	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.29142	1.58;1.58;1.58	5.85	5.85	0.93711	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.36720	-0.9736	10	0.22109	T	0.4	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	167	Q9NPC2	KCNK9_HUMAN	S	167	ENSP00000429847:C167S;ENSP00000302166:C167S;ENSP00000430676:C167S	ENSP00000302166:C167S	C	-	2	0	KCNK9	140700308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.635000	0.83286	2.753000	0.94483	0.655000	0.94253	TGC		PASS	0.557	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		42	66	42	66	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145019424	145019424	+	Intron	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr8:145019424C>T	ENST00000322810.4	-	1	693				PLEC_ENST00000398774.2_5'Flank|PLEC_ENST00000357649.2_5'Flank|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron|MIR661_ENST00000384842.1_RNA|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354589.3_5'Flank|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGCCTGCGCCTGCCCCACA	0.697																																						hsa-mir-661|MI0003669																			0					0															5.0	7.0	6.0					8																	145019424		1441	3406	4847	SO:0001627	intron_variant	724031							g.chr8:145019424C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.523+4927G>A	8.37:g.145019424C>T						PLEC_uc003zac.1_5'Flank|PLEC_uc003zad.2_5'Flank|PLEC_uc003zae.1_5'Flank|PLEC_uc003zaf.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron										-								Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	RNA	SNP	ENST00000322810.4	37	c.24C>T	CCDS43772.1																																																																																				PASS	0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	13	5	13	---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	4117993	4117993	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr9:4117993G>A	ENST00000324333.10	-	3	1213	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	GLIS3_ENST00000381971.3_Silent_p.G495G	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	340					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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.G340G(1)|p.G495G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGCCCCCGATGCCGTCCATCT	0.682																																						uc003zhw.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1018-1020)GGC>GGT		GLIS family zinc finger 3 isoform b							50.0	48.0	49.0					9																	4117993		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4117993G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1020C>T	9.37:g.4117993G>A						GLIS3_uc003zhx.1_Silent_p.G495G|GLIS3_uc003zic.1_Silent_p.G495G|GLIS3_uc003zie.1_Silent_p.G495G|GLIS3_uc010mhh.1_Silent_p.G370G|GLIS3_uc003zid.1_Silent_p.G273G|GLIS3_uc010mhi.1_Silent_p.G302G|GLIS3_uc003zif.1_Silent_p.G273G|GLIS3_uc003zig.1_Silent_p.G339G|GLIS3_uc003zih.1_Silent_p.G273G|GLIS3_uc003zhy.1_Silent_p.G273G|GLIS3_uc003zhz.1_Silent_p.G273G|GLIS3_uc003zib.1_Silent_p.G339G|GLIS3_uc010mhg.1_Silent_p.G273G	p.G340G	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1214	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	340					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.1020C>T	CCDS6451.1																																																																																				PASS	0.682	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		29	122	29	122	---	---	---	---
SPATA6L	55064	broad.mit.edu	37	9	4625422	4625422	+	Missense_Mutation	SNP	T	T	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr9:4625422T>G	ENST00000454239.2	-	7	819	c.574A>C	c.(574-576)Acc>Ccc	p.T192P	SPATA6L_ENST00000475086.1_Missense_Mutation_p.T134P|SPATA6L_ENST00000381895.5_Missense_Mutation_p.T69P|SPATA6L_ENST00000381890.5_Missense_Mutation_p.T206P|SPATA6L_ENST00000223517.5_5'UTR			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	192								p.T192P(1)									AAATGCCTGGTAGAATATTGA	0.433																																						uc011llz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)ACC>CCC		hypothetical protein LOC55064							67.0	68.0	68.0					9																	4625422		1840	4084	5924	SO:0001583	missense	55064							g.chr9:4625422T>G	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.574A>C	9.37:g.4625422T>G	ENSP00000404277:p.Thr192Pro					C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Missense_Mutation_p.T192P|C9orf68_uc011lly.1_Missense_Mutation_p.T69P	p.T134P	NM_001039395	NP_001034484	B4DIY4	B4DIY4_HUMAN		GBM - Glioblastoma multiforme(50;0.0222)	5	638	-		Breast(48;0.0456)	134					B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37	c.400A>C		.	.	.	.	.	.	.	.	.	.	T	8.851	0.944634	0.18356	.	.	ENSG00000106686	ENST00000454239;ENST00000381890;ENST00000475086;ENST00000381895	T;T;T;T	0.44881	1.93;0.91;1.92;1.88	4.75	-0.344	0.12628	.	0.753844	0.11867	N	0.521776	T	0.27765	0.0683	L	0.35723	1.085	0.09310	N	1	B;B;B	0.17667	0.001;0.023;0.002	B;B;B	0.17433	0.004;0.018;0.006	T	0.20371	-1.0277	10	0.33141	T	0.24	-12.5276	4.8915	0.13730	0.0:0.3634:0.1683:0.4683	.	134;69;192	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	P	192;206;134;69	ENSP00000404277:T192P;ENSP00000371314:T206P;ENSP00000417063:T134P;ENSP00000371319:T69P	ENSP00000371314:T206P	T	-	1	0	C9orf68	4615422	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.196000	0.09532	-0.210000	0.10140	-1.123000	0.02005	ACC		PASS	0.433	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		30	128	30	128	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73213485	73213485	+	Silent	SNP	G	G	C	rs145029936		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr9:73213485G>C	ENST00000377111.2	-	20	3105	c.2862C>G	c.(2860-2862)gtC>gtG	p.V954V	TRPM3_ENST00000396285.1_Silent_p.V801V|TRPM3_ENST00000377105.1_Silent_p.V813V|TRPM3_ENST00000377110.3_Silent_p.V954V|TRPM3_ENST00000377106.1_Silent_p.V826V|TRPM3_ENST00000423814.3_Silent_p.V981V|TRPM3_ENST00000357533.2_Silent_p.V958V|TRPM3_ENST00000360823.2_Silent_p.V816V|TRPM3_ENST00000396292.4_Silent_p.V826V|TRPM3_ENST00000408909.2_Silent_p.V813V|TRPM3_ENST00000358082.3_Silent_p.V816V|TRPM3_ENST00000396280.5_Silent_p.V803V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	979					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.V958V(2)|p.V826V(2)|p.V954V(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGATCATTCCGACAGAAAACA	0.498																																						uc004aid.2																			5	Substitution - coding silent(5)		lung(3)|large_intestine(2)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2860-2862)GTC>GTG		transient receptor potential cation channel,							145.0	124.0	131.0					9																	73213485		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73213485G>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2862C>G	9.37:g.73213485G>C						TRPM3_uc004ahu.2_Silent_p.V784V|TRPM3_uc004ahv.2_Silent_p.V756V|TRPM3_uc004ahw.2_Silent_p.V826V|TRPM3_uc004ahx.2_Silent_p.V813V|TRPM3_uc004ahy.2_Silent_p.V816V|TRPM3_uc004ahz.2_Silent_p.V803V|TRPM3_uc004aia.2_Silent_p.V801V|TRPM3_uc004aib.2_Silent_p.V791V|TRPM3_uc004aic.2_Silent_p.V954V	p.V954V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			20	3106	-			979			Helical; (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.2862C>G		.	.	.	.	.	.	.	.	.	.	G	4.542	0.100681	0.08731	.	.	ENSG00000083067	ENST00000396280	.	.	.	4.96	-9.92	0.00455	.	.	.	.	.	T	0.49355	0.1552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60403	-0.7270	4	.	.	.	-19.1567	10.474	0.44655	0.3731:0.4175:0.2094:0.0	.	.	.	.	G	803	.	.	R	-	1	2	TRPM3	72403305	0.000000	0.05858	0.309000	0.25155	0.731000	0.41821	-5.981000	0.00087	-2.061000	0.00892	-1.189000	0.01698	CGG		PASS	0.498	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		48	67	48	67	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84607401	84607401	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr9:84607401C>T	ENST00000344803.2	+	4	2063	c.2016C>T	c.(2014-2016)atC>atT	p.I672I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	672					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.I672I(2)									CGATCTCCATCATTCCTGGAG	0.502																																						uc004amn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(2014-2016)ATC>ATT		hypothetical protein LOC389763							105.0	103.0	104.0					9																	84607401		1872	4104	5976	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84607401C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2016C>T	9.37:g.84607401C>T							p.I672I	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2063	+			672						Silent	SNP	ENST00000344803.2	37	c.2016C>T	CCDS47986.1																																																																																				PASS	0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		53	141	53	141	---	---	---	---
HIATL1	84641	broad.mit.edu	37	9	97203277	97203277	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr9:97203277G>A	ENST00000375344.3	+	5	675	c.406G>A	c.(406-408)Gcg>Acg	p.A136T	HIATL1_ENST00000428393.2_Missense_Mutation_p.A71T	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	136					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A136T(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GTGGTATTTTGCGATGATTTC	0.408																																					Pancreas(77;1260 1915 1973 10423)	uc004aur.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(406-408)GCG>ACG		hippocampus abundant transcript-like 1							115.0	110.0	111.0					9																	97203277		2203	4300	6503	SO:0001583	missense	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97203277G>A	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.406G>A	9.37:g.97203277G>A	ENSP00000364493:p.Ala136Thr					HIATL1_uc011luh.1_Missense_Mutation_p.A71T	p.A136T	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN			5	675	+		Acute lymphoblastic leukemia(62;0.136)	136			Helical; (Potential).		B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.406G>A	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	.	20.8	4.057312	0.76074	.	.	ENSG00000148110	ENST00000375344;ENST00000428393	T;T	0.60171	0.21;0.21	4.16	4.16	0.48862	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.284727	0.25035	N	0.033654	T	0.64494	0.2603	M	0.71296	2.17	0.58432	D	0.999996	B;B	0.32543	0.314;0.375	B;B	0.42653	0.378;0.394	T	0.67654	-0.5615	10	0.51188	T	0.08	-1.9347	14.7696	0.69665	0.0:0.0:1.0:0.0	.	71;136	B4DUE6;Q5SR56	.;HIAL1_HUMAN	T	136;71	ENSP00000364493:A136T;ENSP00000405909:A71T	ENSP00000364493:A136T	A	+	1	0	HIATL1	96243098	1.000000	0.71417	0.803000	0.32268	0.994000	0.84299	9.276000	0.95745	2.610000	0.88304	0.557000	0.71058	GCG		PASS	0.408	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		159	54	159	54	---	---	---	---
ZNF883	169834	broad.mit.edu	37	9	115760384	115760384	+	lincRNA	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr9:115760384C>T	ENST00000427548.1	-	0	1429							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GATTACTGTTCCGGGTAAAGG	0.373																																						uc011lwy.1																			0					0						c.(154-156)CGG>CGA		hypothetical protein LOC169834							58.0	64.0	62.0					9																	115760384		2161	4277	6438			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760384C>T	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760384C>T							p.R52R	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1395	-			52			C2H2-type 2.			Silent	SNP	ENST00000427548.1	37	c.156G>A																																																																																					PASS	0.373	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		30	76	30	76	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117808740	117808740	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr9:117808740C>A	ENST00000350763.4	-	17	5485	c.5074G>T	c.(5074-5076)Gga>Tga	p.G1692*	TNC_ENST00000340094.3_Nonsense_Mutation_p.G1328*|TNC_ENST00000346706.3_Nonsense_Mutation_p.G1146*|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Nonsense_Mutation_p.G1237*|TNC_ENST00000542877.1_Nonsense_Mutation_p.G1329*|TNC_ENST00000341037.4_Nonsense_Mutation_p.G1510*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1692	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.G1692*(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTGCTTATTCCATAGAGTTCA	0.458																																						uc004bjj.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5074-5076)GGA>TGA		tenascin C precursor							247.0	231.0	236.0					9																	117808740		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117808740C>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5074G>T	9.37:g.117808740C>A	ENSP00000265131:p.Gly1692*					TNC_uc010mvf.2_Intron	p.G1692*	NM_002160	NP_002151	P24821	TENA_HUMAN			17	5436	-			1692			Fibronectin type-III 12.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.5074G>T	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.142747|9.142747	0.99080|0.99080	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000350763;ENST00000341037;ENST00000542877|ENST00000544972	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76673	.|0.4020	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74278	.|-0.3717	.|4	0.87932|.	D|.	0|.	.|.	20.0674|20.0674	0.97707|0.97707	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1328;1237;1146;1692;1510;1329|254	.|.	ENSP00000344400:G1328X|.	G|W	-|-	1|2	0|0	TNC|TNC	116848561|116848561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.487000|7.487000	0.81328|0.81328	2.735000|2.735000	0.93741|0.93741	0.563000|0.563000	0.77884|0.77884	GGA|TGG		PASS	0.458	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		136	440	136	440	---	---	---	---
SLC27A4	10999	broad.mit.edu	37	9	131117388	131117388	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr9:131117388G>T	ENST00000300456.4	+	10	1498	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	461					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D461Y(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGCCGCTTCGATGGCTACCT	0.622																																					Pancreas(107;1554 2241 10946 12953)	uc004but.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)GAT>TAT		solute carrier family 27 (fatty acid							41.0	36.0	38.0					9																	131117388		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131117388G>T	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1381G>T	9.37:g.131117388G>T	ENSP00000300456:p.Asp461Tyr					SLC27A4_uc004buu.2_Intron	p.D461Y	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN			10	1665	+			461					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.1381G>T	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676731	0.88445	.	.	ENSG00000167114	ENST00000300456	T	0.41400	1.0	5.77	5.77	0.91146	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80437	-0.1383	10	0.59425	D	0.04	-24.9549	18.9865	0.92773	0.0:0.0:1.0:0.0	.	461	Q6P1M0	S27A4_HUMAN	Y	461	ENSP00000300456:D461Y	ENSP00000300456:D461Y	D	+	1	0	SLC27A4	130157209	1.000000	0.71417	0.625000	0.29200	0.998000	0.95712	7.644000	0.83416	2.724000	0.93272	0.561000	0.74099	GAT		PASS	0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			17	42	17	42	---	---	---	---
DOLK	22845	broad.mit.edu	37	9	131708257	131708257	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr9:131708257G>A	ENST00000372586.3	-	1	1641	c.1326C>T	c.(1324-1326)gcC>gcT	p.A442A	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	442					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)	p.A442A(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCAGGACACCGGCATAGGGGA	0.607																																						uc004bwr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1324-1326)GCC>GCT		dolichol kinase							77.0	81.0	80.0					9																	131708257		2203	4300	6503	SO:0001819	synonymous_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708257G>A	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1326C>T	9.37:g.131708257G>A						NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	p.A442A	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN			1	1756	-			442			Helical; (Potential).		Q5SRE6	Silent	SNP	ENST00000372586.3	37	c.1326C>T	CCDS6915.1																																																																																				PASS	0.607	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		90	135	90	135	---	---	---	---
PTPLA	9200	broad.mit.edu	37	10	17646017	17646017	+	Missense_Mutation	SNP	C	C	A	rs150586011		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:17646017C>A	ENST00000361271.3	-	2	324	c.287G>T	c.(286-288)cGt>cTt	p.R96L		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	96					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)	p.R96L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CATATAAAAACGTACCATGGC	0.313																																						uc001ipg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(286-288)CGT>CTT		protein tyrosine phosphatase-like, member A							63.0	73.0	70.0					10																	17646017		2203	4297	6500	SO:0001583	missense	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17646017C>A	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.287G>T	10.37:g.17646017C>A	ENSP00000355308:p.Arg96Leu					PTPLA_uc001iph.1_Missense_Mutation_p.R96L	p.R96L	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN			2	322	-			96			Lumenal (Potential).		B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	c.287G>T	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837593	0.50951	.	.	ENSG00000165996	ENST00000361271	T	0.12147	2.71	4.88	4.88	0.63580	.	0.064498	0.64402	D	0.000011	T	0.35770	0.0943	M	0.68317	2.08	0.80722	D	1	D;B	0.89917	1.0;0.01	D;B	0.87578	0.998;0.014	T	0.04017	-1.0984	10	0.23302	T	0.38	-19.2647	18.4221	0.90594	0.0:1.0:0.0:0.0	.	96;96	B0YJ81-2;B0YJ81	.;HACD1_HUMAN	L	96	ENSP00000355308:R96L	ENSP00000355308:R96L	R	-	2	0	PTPLA	17686023	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.673000	0.83973	2.414000	0.81942	0.557000	0.71058	CGT		PASS	0.313	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		15	80	15	80	---	---	---	---
MKX	283078	broad.mit.edu	37	10	28032179	28032179	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:28032179C>A	ENST00000375790.5	-	2	598	c.166G>T	c.(166-168)Ggc>Tgc	p.G56C	RP11-360I20.2_ENST00000419777.1_RNA|MKX_ENST00000419761.1_Missense_Mutation_p.G56C			Q8IYA7	MKX_HUMAN	mohawk homeobox	56					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	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 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.G56C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGTCTCAGGCCGAGGTTGTCC	0.751																																						uc001ity.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(166-168)GGC>TGC		mohawk homeobox							25.0	29.0	27.0					10																	28032179		2195	4290	6485	SO:0001583	missense	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28032179C>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.166G>T	10.37:g.28032179C>A	ENSP00000364946:p.Gly56Cys					MKX_uc001itx.3_Missense_Mutation_p.G56C	p.G56C	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN			2	391	-			56					B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	c.166G>T	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217853	0.79352	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.64991	-0.13;-0.13	5.32	0.769	0.18492	Homeodomain-like (1);	0.257305	0.45126	D	0.000391	T	0.39937	0.1097	N	0.08118	0	0.30654	N	0.755083	P	0.50710	0.938	P	0.44990	0.466	T	0.48703	-0.9012	10	0.66056	D	0.02	-19.0688	7.1382	0.25541	0.0:0.3229:0.0:0.6771	.	56	Q8IYA7	MKX_HUMAN	C	56	ENSP00000364946:G56C;ENSP00000400896:G56C	ENSP00000364946:G56C	G	-	1	0	MKX	28072185	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.051000	0.41307	0.238000	0.21222	-0.254000	0.11334	GGC		PASS	0.751	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		8	17	8	17	---	---	---	---
ZWINT	11130	broad.mit.edu	37	10	58119447	58119447	+	Splice_Site	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:58119447C>A	ENST00000373944.3	-	4	462		c.e4+1		ZWINT_ENST00000395405.1_Splice_Site|ZWINT_ENST00000460654.1_Splice_Site|ZWINT_ENST00000361148.6_Splice_Site|ZWINT_ENST00000318387.2_Splice_Site			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein						establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)	p.?(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CCTGGGTGTACCTTGGCCTGG	0.547																																						uc001jjx.1																			1	Unknown(1)		lung(1)		0						c.e4+1		ZW10 interactor isoform a							146.0	148.0	147.0					10																	58119447		2203	4300	6503	SO:0001630	splice_region_variant	11130				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58119447C>A	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.423+1G>T	10.37:g.58119447C>A						ZWINT_uc001jjy.1_Splice_Site_p.K141_splice|ZWINT_uc001jka.1_Splice_Site_p.K141_splice|ZWINT_uc009xoy.1_Splice_Site	p.K141_splice	NM_007057	NP_008988	O95229	ZWINT_HUMAN			4	460	-								A6NNV6|Q0D2I3|Q9BWD0	Splice_Site	SNP	ENST00000373944.3	37	c.423_splice	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	8.876	0.950539	0.18431	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.024	0.58804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZWINT	57789453	0.999000	0.42202	0.987000	0.45799	0.138000	0.21146	3.526000	0.53509	2.518000	0.84900	0.558000	0.71614	.		PASS	0.547	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1		Intron	124	303	124	303	---	---	---	---
PPP3CB	5532	broad.mit.edu	37	10	75198107	75198107	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:75198107C>G	ENST00000360663.5	-	14	1579	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q	PPP3CB_ENST00000394828.2_Missense_Mutation_p.E481Q|PPP3CB_ENST00000544628.1_Missense_Mutation_p.E118Q|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E491Q			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	490	Inhibitory domain.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.E162Q(1)|p.E490Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GGCATTCTCTCATTGATCCTA	0.448																																						uc001jue.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1468-1470)GAG>CAG		protein phosphatase 3, catalytic subunit, beta							182.0	159.0	167.0					10																	75198107		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75198107C>G	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1468G>C	10.37:g.75198107C>G	ENSP00000353881:p.Glu490Gln					PPP3CB_uc001juf.2_Missense_Mutation_p.E491Q|PPP3CB_uc001jug.2_Missense_Mutation_p.E481Q|PPP3CB_uc010qkj.1_Missense_Mutation_p.E118Q	p.E490Q	NM_021132	NP_066955	P16298	PP2BB_HUMAN			14	1603	-	Prostate(51;0.0119)		490			Inhibitory domain.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.1468G>C	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606589	0.66445	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000394823;ENST00000544628;ENST00000430762	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	5.55	5.55	0.83447	.	0.155969	0.43416	D	0.000578	T	0.32793	0.0841	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.91635	0.999;0.985;0.994	T	0.13656	-1.0501	10	0.87932	D	0	.	19.5198	0.95180	0.0:1.0:0.0:0.0	.	480;491;490	P16298-3;Q8N1F0;P16298	.;.;PP2BB_HUMAN	Q	490;491;481;162;118;152	ENSP00000353881:E490Q;ENSP00000378306:E491Q;ENSP00000378305:E481Q;ENSP00000437596:E118Q	ENSP00000353881:E490Q	E	-	1	0	PPP3CB	74868113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.599000	0.82757	2.614000	0.88457	0.563000	0.77884	GAG		PASS	0.448	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		52	155	52	155	---	---	---	---
FRA10AC1	118924	broad.mit.edu	37	10	95441274	95441274	+	Silent	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:95441274T>C	ENST00000359204.4	-	11	947	c.750A>G	c.(748-750)ttA>ttG	p.L250L	FRA10AC1_ENST00000394100.2_Silent_p.L250L|FRA10AC1_ENST00000536233.1_Silent_p.L250L|FRA10AC1_ENST00000371430.2_Silent_p.L250L	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	250	Lys-rich.					nucleus (GO:0005634)		p.L250L(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CTGCAGAAGATAATCTGGATT	0.303																																						uc001kiz.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(748-750)TTA>TTG		FRA10AC1 protein							177.0	156.0	163.0					10																	95441274		2202	4299	6501	SO:0001819	synonymous_variant	118924					nucleus	protein binding	g.chr10:95441274T>C	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.750A>G	10.37:g.95441274T>C						C10orf4_uc001kiv.1_RNA|C10orf4_uc001kja.1_Silent_p.L250L	p.L250L	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN			11	948	-		Colorectal(252;0.122)	250			Lys-rich.		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Silent	SNP	ENST00000359204.4	37	c.750A>G	CCDS7430.1																																																																																				PASS	0.303	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		28	62	28	62	---	---	---	---
ACSM6	142827	broad.mit.edu	37	10	96967139	96967139	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:96967139A>T	ENST00000394005.3	+	3	587	c.578A>T	c.(577-579)tAt>tTt	p.Y193F	C10orf129_ENST00000430183.1_Missense_Mutation_p.Y38F|C10orf129_ENST00000341686.3_Missense_Mutation_p.Y193F			Q6P461	ACSM6_HUMAN		193					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.Y193F(1)|p.Y38F(1)		breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GATAAGAGCTATGATGGGTGG	0.428																																						uc001kke.2																			2	Substitution - Missense(2)		lung(2)		0						c.(577-579)TAT>TTT		acyl-coenzyme A synthetase ACSM6, mitochondrial							87.0	79.0	82.0					10																	96967139		2203	4300	6503	SO:0001583	missense	142827				fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr10:96967139A>T																												ENST00000394005.3:c.578A>T	10.37:g.96967139A>T	ENSP00000377573:p.Tyr193Phe					C10orf129_uc009xuu.1_Missense_Mutation_p.Y103F	p.Y193F	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	4	703	+		Colorectal(252;0.083)	193					A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	c.578A>T	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	A	12.08	1.831968	0.32421	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000430183;ENST00000394005	T;T;T	0.40225	2.88;1.04;2.88	1.2	-1.33	0.09172	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.21801	0.0525	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.17433	0.018	T	0.20075	-1.0286	9	0.30854	T	0.27	.	6.0262	0.19656	0.3798:0.0:0.6202:0.0	.	193	Q6P461	ACSM6_HUMAN	F	219;193;38;193	ENSP00000340296:Y193F;ENSP00000400368:Y38F;ENSP00000377573:Y193F	ENSP00000340296:Y193F	Y	+	2	0	C10orf129	96957129	0.001000	0.12720	0.005000	0.12908	0.760000	0.43138	0.687000	0.25407	-0.373000	0.07979	0.472000	0.43445	TAT		PASS	0.428	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			55	90	55	90	---	---	---	---
PLEKHA1	59338	broad.mit.edu	37	10	124177449	124177449	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:124177449G>T	ENST00000368990.3	+	8	777	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PLEKHA1_ENST00000368989.2_Missense_Mutation_p.D216Y|MIR3941_ENST00000582572.1_RNA|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.D216Y|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.D216Y|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.D216Y	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	216	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)	p.D216Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTTTCAATTGGATGAAAACAC	0.323																																						uc001lge.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(646-648)GAT>TAT		pleckstrin homology domain containing, family A							96.0	90.0	92.0					10																	124177449		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124177449G>T	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.646G>T	10.37:g.124177449G>T	ENSP00000357986:p.Asp216Tyr					PLEKHA1_uc001lgf.1_Missense_Mutation_p.D216Y|PLEKHA1_uc001lgg.1_Missense_Mutation_p.D216Y|PLEKHA1_uc001lgh.2_Missense_Mutation_p.D216Y	p.D216Y	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN			8	769	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	216			PH 2.		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.646G>T	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763174	0.89932	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.043699	0.85682	D	0.000000	D	0.86522	0.5953	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.86792	0.1986	10	0.72032	D	0.01	-24.1729	20.0007	0.97408	0.0:0.0:1.0:0.0	.	216;216	B3KQ55;Q9HB21	.;PKHA1_HUMAN	Y	216	ENSP00000357986:D216Y;ENSP00000357985:D216Y;ENSP00000357984:D216Y;ENSP00000438608:D216Y;ENSP00000394416:D216Y	ENSP00000357984:D216Y	D	+	1	0	PLEKHA1	124167439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.305000	0.96197	2.726000	0.93360	0.650000	0.86243	GAT		PASS	0.323	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		31	126	31	126	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127441453	127441453	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:127441453C>G	ENST00000356792.4	+	23	3595	c.3363C>G	c.(3361-3363)atC>atG	p.I1121M	RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.I1087M	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I1087M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCCAGCTTATCCAGAAGGAGC	0.383																																						uc001liq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(3361-3363)ATC>ATG		erythroid differentiation-related factor 1							149.0	145.0	147.0					10																	127441453		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127441453C>G																												ENST00000356792.4:c.3363C>G	10.37:g.127441453C>G	ENSP00000349244:p.Ile1121Met					C10orf137_uc001lio.1_Missense_Mutation_p.I1087M|C10orf137_uc001lip.1_Missense_Mutation_p.I825M|C10orf137_uc001lis.1_Missense_Mutation_p.I447M|C10orf137_uc001lit.1_Missense_Mutation_p.I31M	p.I1121M	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			23	3656	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	1121					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.3363C>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839663	0.32513	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.45668	0.89;0.89	5.63	2.56	0.30785	.	0.168148	0.52532	D	0.000079	T	0.29684	0.0741	L	0.29908	0.895	0.37059	D	0.897989	P;P;B	0.46512	0.879;0.719;0.033	B;B;B	0.43251	0.387;0.413;0.014	T	0.23547	-1.0185	10	0.72032	D	0.01	.	6.203	0.20587	0.0:0.545:0.2518:0.2031	.	1121;468;1087	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	M	1121;1087	ENSP00000349244:I1121M;ENSP00000336727:I1087M	ENSP00000336727:I1087M	I	+	3	3	C10orf137	127431443	0.014000	0.17966	0.040000	0.18447	0.561000	0.35649	0.206000	0.17375	0.687000	0.31509	0.650000	0.86243	ATC		PASS	0.383	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			48	209	48	209	---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127684007	127684007	+	Missense_Mutation	SNP	A	A	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:127684007A>C	ENST00000368693.1	+	4	442	c.338A>C	c.(337-339)cAc>cCc	p.H113P	FANK1_ENST00000368689.1_Missense_Mutation_p.H113P|FANK1_ENST00000368695.1_Missense_Mutation_p.H107P			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	113						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H113P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AGTAGTGAGCACTTGCACCGG	0.502																																						uc001ljh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)CAC>CCC		fibronectin type III and ankyrin repeat domains							141.0	127.0	132.0					10																	127684007		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127684007A>C	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.338A>C	10.37:g.127684007A>C	ENSP00000357682:p.His113Pro					FANK1_uc010quk.1_3'UTR|FANK1_uc009yan.2_Missense_Mutation_p.H139P|FANK1_uc001lji.2_Missense_Mutation_p.H107P	p.H113P	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			4	442	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	113			ANK 1.		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.338A>C	CCDS31309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.84|13.84	2.357454|2.357454	0.41801|0.41801	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000417114;ENST00000445510;ENST00000368691;ENST00000368689;ENST00000368692|ENST00000456942	T;T;T;T;T;T|.	0.45668|.	0.89;0.89;1.49;1.48;0.89;1.48|.	4.34|4.34	4.34|4.34	0.51931|0.51931	Ankyrin repeat-containing domain (1);|.	0.146211|.	0.44483|.	D|.	0.000444|.	T|T	0.63307|0.63307	0.2500|0.2500	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;P;P|.	0.57571|.	0.98;0.955;0.924|.	P;B;B|.	0.50490|.	0.642;0.44;0.255|.	T|T	0.62534|0.62534	-0.6834|-0.6834	10|5	0.25751|.	T|.	0.34|.	-14.587|-14.587	10.0651|10.0651	0.42299|0.42299	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	139;113;113|.	Q8TC84-3;Q8TC84-2;Q8TC84|.	.;.;FANK1_HUMAN|.	P|P	107;113;107;113;113;113;139|8	ENSP00000357684:H107P;ENSP00000357682:H113P;ENSP00000396356:H107P;ENSP00000415719:H113P;ENSP00000357680:H113P;ENSP00000357678:H113P|.	ENSP00000357678:H113P|.	H|T	+|+	2|1	0|0	FANK1|FANK1	127673997|127673997	1.000000|1.000000	0.71417|0.71417	0.804000|0.804000	0.32291|0.32291	0.336000|0.336000	0.28762|0.28762	2.866000|2.866000	0.48420|0.48420	1.942000|1.942000	0.56320|0.56320	0.528000|0.528000	0.53228|0.53228	CAC|ACT		PASS	0.502	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		82	62	82	62	---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128936119	128936119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:128936119C>T	ENST00000522781.1	-	6	1977	c.1422G>A	c.(1420-1422)tgG>tgA	p.W474*	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Nonsense_Mutation_p.W450*	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	474								p.W474*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACCAGAGTTTCCATCTTCCGT	0.433																																						uc001lju.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1420-1422)TGG>TGA		hypothetical protein LOC642938							223.0	227.0	225.0					10																	128936119		2203	4300	6503	SO:0001587	stop_gained	642938							g.chr10:128936119C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.1422G>A	10.37:g.128936119C>T	ENSP00000429763:p.Trp474*					DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.W450*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.W474*|FAM196A_uc009yap.1_Nonsense_Mutation_p.W450*	p.W474*	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			3	1463	-			474					B2RNT4|B7ZME7	Nonsense_Mutation	SNP	ENST00000522781.1	37	c.1422G>A	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	C	42	9.682695	0.99237	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	.	.	.	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.7285	0.96174	0.0:1.0:0.0:0.0	.	.	.	.	X	474;450	.	ENSP00000428730:W450X	W	-	3	0	FAM196A	128826109	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.434000	0.80377	2.733000	0.93635	0.650000	0.86243	TGG		PASS	0.433	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		268	205	268	205	---	---	---	---
EBF3	253738	broad.mit.edu	37	10	131666117	131666117	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr10:131666117C>T	ENST00000355311.5	-	9	913	c.841G>A	c.(841-843)Gtc>Atc	p.V281I	EBF3_ENST00000368648.3_Missense_Mutation_p.V272I			Q9H4W6	COE3_HUMAN	early B-cell factor 3	281	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V272I(1)|p.V281I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATTATGATGACGGTGGCACCC	0.577																																						uc001lki.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(814-816)GTC>ATC		early B-cell factor 3							124.0	98.0	107.0					10																	131666117		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131666117C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.841G>A	10.37:g.131666117C>T	ENSP00000347463:p.Val281Ile						p.V272I	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	9	873	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	281			IPT/TIG.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.814G>A		.	.	.	.	.	.	.	.	.	.	C	29.8	5.038862	0.93630	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.73152	-0.72;-0.72	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	L	0.43757	1.38	0.80722	D	1	P	0.45594	0.862	P	0.61658	0.892	T	0.78708	-0.2099	10	0.56958	D	0.05	-16.6046	20.3312	0.98718	0.0:1.0:0.0:0.0	.	272	Q9H4W6-2	.	I	281;272	ENSP00000347463:V281I;ENSP00000357637:V272I	ENSP00000347463:V281I	V	-	1	0	EBF3	131556107	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.752000	0.85141	2.894000	0.99253	0.655000	0.94253	GTC		PASS	0.577	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		32	114	32	114	---	---	---	---
PSMD13	5719	broad.mit.edu	37	11	237137	237137	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:237137A>T	ENST00000532097.1	+	1	592	c.88A>T	c.(88-90)Acg>Tcg	p.T30S	SIRT3_ENST00000532956.1_5'Flank|SIRT3_ENST00000382743.4_5'Flank|SIRT3_ENST00000524564.1_5'Flank|SIRT3_ENST00000528702.1_5'Flank|PSMD13_ENST00000431206.2_Missense_Mutation_p.T30S|PSMD13_ENST00000352303.5_Missense_Mutation_p.T30S|SIRT3_ENST00000525319.1_5'Flank|SIRT3_ENST00000529382.1_5'Flank	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	30					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)|meiosis I (GO:0007127)|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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.T30S(2)		NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GGAGCTCTACACGAAGAAGTG	0.682																																						uc001lol.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(88-90)ACG>TCG		proteasome 26S non-ATPase subunit 13 isoform 1							18.0	24.0	22.0					11																	237137		2202	4300	6502	SO:0001583	missense	5719				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|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr11:237137A>T	AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.88A>T	11.37:g.237137A>T	ENSP00000436186:p.Thr30Ser					SIRT3_uc001loj.3_5'Flank|SIRT3_uc001lok.3_5'Flank|SIRT3_uc010qvm.1_5'Flank|SIRT3_uc010qvn.1_5'Flank|SIRT3_uc010qvo.1_5'Flank|SIRT3_uc010qvp.1_5'Flank|SIRT3_uc010qvq.1_5'Flank|SIRT3_uc009ybt.1_5'Flank|PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Missense_Mutation_p.T30S|PSMD13_uc001lon.2_5'UTR|PSMD13_uc001lom.2_5'UTR	p.T30S	NM_002817	NP_002808	Q9UNM6	PSD13_HUMAN		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)	1	330	+		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	30					B3KT15|O75831|Q53XU2|Q9UNV3	Missense_Mutation	SNP	ENST00000532097.1	37	c.88A>T	CCDS7692.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691551	0.48097	.	.	ENSG00000185627	ENST00000532097;ENST00000431206;ENST00000528906;ENST00000352303	T;T;T;T	0.16597	2.34;2.34;2.33;2.34	5.0	5.0	0.66597	.	0.114968	0.64402	D	0.000010	T	0.13415	0.0325	L	0.28344	0.845	0.34661	D	0.72271	B;B	0.23591	0.088;0.0	B;B	0.26416	0.069;0.011	T	0.18053	-1.0349	10	0.25106	T	0.35	.	13.5166	0.61543	1.0:0.0:0.0:0.0	.	30;30	Q9UNM6-2;Q9UNM6	.;PSD13_HUMAN	S	30	ENSP00000436186:T30S;ENSP00000396937:T30S;ENSP00000433364:T30S;ENSP00000333811:T30S	ENSP00000333811:T30S	T	+	1	0	PSMD13	227137	1.000000	0.71417	0.988000	0.46212	0.351000	0.29236	7.438000	0.80431	1.859000	0.53934	0.455000	0.32223	ACG		PASS	0.682	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817		9	41	9	41	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1020131	1020131	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:1020131G>T	ENST00000421673.2	-	29	3817	c.3767C>A	c.(3766-3768)cCa>cAa	p.P1256Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1256	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P1256Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCGTGGCTGGAAGGAGGGG	0.642																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3766-3768)CCA>CAA		mucin 6, gastric							64.0	75.0	72.0					11																	1020131		1999	4172	6171	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1020131G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3767C>A	11.37:g.1020131G>T	ENSP00000406861:p.Pro1256Gln						p.P1256Q	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	29	3818	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1256			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3767C>A	CCDS44513.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.569|3.569	-0.088110|-0.088110	0.07097|0.07097	.|.	.|.	ENSG00000184956|ENSG00000184956	ENST00000421673|ENST00000527242	T|.	0.19250|.	2.16|.	1.44|1.44	0.438|0.438	0.16560|0.16560	.|.	.|.	.|.	.|.	.|.	T|T	0.24928|0.24928	0.0605|0.0605	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	D|.	0.69078|.	0.997|.	P|.	0.52386|.	0.697|.	T|T	0.26292|0.26292	-1.0107|-1.0107	9|5	0.46703|.	T|.	0.11|.	.|.	5.4293|5.4293	0.16444|0.16444	0.0:0.3594:0.6406:0.0|0.0:0.3594:0.6406:0.0	.|.	1256|.	Q6W4X9|.	MUC6_HUMAN|.	Q|K	1256|61	ENSP00000406861:P1256Q|.	ENSP00000406861:P1256Q|.	P|Q	-|-	2|1	0|0	MUC6|MUC6	1010131|1010131	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.144000|0.144000	0.21451|0.21451	-0.111000|-0.111000	0.10807|0.10807	0.148000|0.148000	0.19059|0.19059	0.313000|0.313000	0.20887|0.20887	CCA|CAG		PASS	0.642	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		12	29	12	29	---	---	---	---
MUC5AC	4586	broad.mit.edu	37	11	1162244	1162244	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:1162244C>T	ENST00000356191.2	+	20	1744	c.1744C>T	c.(1744-1746)Ctc>Ttc	p.L582F				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	585	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.L585F(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTTCCGGACCCTCAGTGGGGT	0.642																																						uc009ycr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1753-1755)CTC>TTC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							26.0	26.0	26.0					11																	1162244		865	1984	2849	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1162244C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1744C>T	11.37:g.1162244C>T	ENSP00000348519:p.Leu582Phe						p.L585F	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	16	1879	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	576			VWFD 2.		O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.1753C>T		.	.	.	.	.	.	.	.	.	.	c	7.912	0.736793	0.15574	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.59502	0.26;0.26	2.86	-1.95	0.07548	.	.	.	.	.	T	0.66761	0.2822	M	0.79475	2.455	.	.	.	D	0.54397	0.966	P	0.54965	0.765	T	0.73344	-0.4012	8	0.56958	D	0.05	.	11.4603	0.50206	0.4975:0.5025:0.0:0.0	.	585	A7Y9J9	.	F	585;582	ENSP00000435591:L585F;ENSP00000348519:L582F	ENSP00000348519:L582F	L	+	1	0	MUC5AC	1152244	0.000000	0.05858	0.193000	0.23327	0.050000	0.14768	0.606000	0.24194	-0.624000	0.05611	0.289000	0.19496	CTC		PASS	0.642	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		10	33	10	33	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5530016	5530016	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:5530016T>C	ENST00000311659.4	-	2	920	c.773A>G	c.(772-774)tAc>tGc	p.Y258C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	258								p.Y258C(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATATCTGTGTACATAGTGCA	0.522																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(772-774)TAC>TGC		ubiquilin 3							108.0	98.0	101.0					11																	5530016		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530016T>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.773A>G	11.37:g.5530016T>C	ENSP00000347997:p.Tyr258Cys					HBG2_uc001mak.1_Intron	p.Y258C	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	859	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	258					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.773A>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804945	0.70682	.	.	ENSG00000175520	ENST00000311659	T	0.51817	0.69	5.63	5.63	0.86233	.	0.000000	0.41194	D	0.000932	T	0.55114	0.1900	M	0.83953	2.67	0.49915	D	0.999836	B	0.29115	0.233	B	0.32393	0.145	T	0.60311	-0.7288	10	0.87932	D	0	-8.8477	14.0826	0.64934	0.0:0.0:0.0:1.0	.	258	Q9H347	UBQL3_HUMAN	C	258	ENSP00000347997:Y258C	ENSP00000347997:Y258C	Y	-	2	0	UBQLN3	5486592	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.572000	0.82409	2.262000	0.75019	0.478000	0.44815	TAC		PASS	0.522	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		127	135	127	135	---	---	---	---
OR56B4	196335	broad.mit.edu	37	11	6129308	6129308	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:6129308C>A	ENST00000316529.3	+	1	395	c.300C>A	c.(298-300)ctC>ctA	p.L100L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L100L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTAGCCTCCCCATGTGTT	0.502																																						uc010qzx.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(298-300)CTC>CTA		olfactory receptor, family 56, subfamily B,							118.0	108.0	112.0					11																	6129308		2201	4296	6497	SO:0001819	synonymous_variant	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129308C>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.300C>A	11.37:g.6129308C>A							p.L100L	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	300	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	100			Extracellular (Potential).		Q6IFD7	Silent	SNP	ENST00000316529.3	37	c.300C>A	CCDS31406.1																																																																																				PASS	0.502	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		58	168	58	168	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19246331	19246331	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:19246331G>A	ENST00000527884.1	-	13	2710	c.2478C>T	c.(2476-2478)acC>acT	p.T826T	E2F8_ENST00000250024.4_Silent_p.T826T|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'Flank	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	826					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T826T(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCCACCTGGGGTACGGAAGA	0.488																																						uc001mpm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2476-2478)ACC>ACT		E2F family member 8							98.0	95.0	96.0					11																	19246331		2199	4293	6492	SO:0001819	synonymous_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19246331G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2478C>T	11.37:g.19246331G>A						E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.T826T	p.T826T	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			13	3000	-			826					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	c.2478C>T	CCDS7849.1																																																																																				PASS	0.488	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		45	131	45	131	---	---	---	---
RCN1	5954	broad.mit.edu	37	11	32122142	32122142	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:32122142G>A	ENST00000054950.3	+	4	969	c.676G>A	c.(676-678)Gat>Aat	p.D226N	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Missense_Mutation_p.D175N	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	226	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.D226N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					TGTGGATCAGGATGAGTATAT	0.512																																						uc010reb.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(676-678)GAT>AAT		reticulocalbin 1 precursor							175.0	148.0	157.0					11																	32122142		2202	4299	6501	SO:0001583	missense	5954					endoplasmic reticulum lumen	calcium ion binding	g.chr11:32122142G>A	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.676G>A	11.37:g.32122142G>A	ENSP00000054950:p.Asp226Asn					RCN1_uc010rea.1_Missense_Mutation_p.D175N|RCN1_uc001mtk.2_Missense_Mutation_p.D60N	p.D226N	NM_002901	NP_002892	Q15293	RCN1_HUMAN			4	942	+	Lung SC(675;0.225)		226			4 (Potential).|EF-hand 4.		B7Z1M1|D3DR00	Missense_Mutation	SNP	ENST00000054950.3	37	c.676G>A	CCDS7876.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.317532	0.81469	.	.	ENSG00000049449	ENST00000532942;ENST00000054950;ENST00000400416	T;T	0.73469	-0.75;2.97	5.41	5.41	0.78517	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	L	0.52759	1.655	0.80722	D	1	B;B	0.33022	0.215;0.394	B;B	0.37346	0.135;0.247	T	0.72937	-0.4140	10	0.44086	T	0.13	-37.1687	19.2006	0.93711	0.0:0.0:1.0:0.0	.	226;175	Q15293;B7Z1M1	RCN1_HUMAN;.	N	175;226;142	ENSP00000436422:D175N;ENSP00000054950:D226N	ENSP00000054950:D226N	D	+	1	0	RCN1	32078718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.557000	0.86248	0.655000	0.94253	GAT		PASS	0.512	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901		29	82	29	82	---	---	---	---
DEPDC7	91614	broad.mit.edu	37	11	33049272	33049272	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:33049272G>C	ENST00000241051.3	+	3	597	c.505G>C	c.(505-507)Gcc>Ccc	p.A169P	DEPDC7_ENST00000311388.3_Missense_Mutation_p.A160P	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	169					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)		p.A160P(1)|p.A169P(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TATCAGATCAGCCAGTTTAGA	0.368																																						uc001mub.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(505-507)GCC>CCC		novel 58.3 KDA protein isoform 1							100.0	96.0	97.0					11																	33049272		1834	4090	5924	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33049272G>C		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.505G>C	11.37:g.33049272G>C	ENSP00000241051:p.Ala169Pro					DEPDC7_uc010reh.1_Missense_Mutation_p.A169P|DEPDC7_uc001muc.2_Missense_Mutation_p.A160P	p.A169P	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN			3	597	+			169					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.505G>C	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290144	0.23478	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.14022	2.54;2.54	5.76	-2.08	0.07254	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.775102	0.12733	N	0.443705	T	0.06416	0.0165	N	0.16478	0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.38845	-0.9642	10	0.23302	T	0.38	-0.0378	5.9527	0.19255	0.4123:0.0:0.4716:0.1161	.	169;160;169	B4DJ78;G5E941;Q96QD5	.;.;DEPD7_HUMAN	P	169;160	ENSP00000241051:A169P;ENSP00000308971:A160P	ENSP00000241051:A169P	A	+	1	0	DEPDC7	33005848	0.846000	0.29590	0.063000	0.19743	0.969000	0.65631	1.093000	0.30939	-0.373000	0.07979	0.555000	0.69702	GCC		PASS	0.368	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		15	73	15	73	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36597771	36597771	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:36597771C>A	ENST00000299440.5	+	2	3029	c.2917C>A	c.(2917-2919)Cgc>Agc	p.R973S		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	973					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R973S(1)|p.R973C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACTGTTTAGGCGCTTCCGGAA	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2917-2919)CGC>AGC		recombination activating gene 1							96.0	102.0	100.0					11																	36597771		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597771C>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2917C>A	11.37:g.36597771C>A	ENSP00000299440:p.Arg973Ser					RAG1_uc001mwt.2_Intron	p.R973S	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	3041	+	all_lung(20;0.226)	all_hematologic(20;0.107)	973					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2917C>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791417	0.70452	.	.	ENSG00000166349	ENST00000299440	T	0.72835	-0.69	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81004	0.4733	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.79120	-0.1934	9	.	.	.	.	15.7724	0.78180	0.1443:0.8557:0.0:0.0	.	973	P15918	RAG1_HUMAN	S	973	ENSP00000299440:R973S	.	R	+	1	0	RAG1	36554347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.598000	0.61069	2.827000	0.97445	0.644000	0.83932	CGC		PASS	0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		57	177	57	177	---	---	---	---
ALKBH3	221120	broad.mit.edu	37	11	43923105	43923105	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:43923105G>C	ENST00000302708.4	+	8	910	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	167					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)	p.E167Q(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CCGCATTGAAGAGAACACTGG	0.507								Direct reversal of damage																														uc001mxs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)GAG>CAG	Direct_reversal_of_damage	AlkB homolog 3	Vitamin C(DB00126)						150.0	123.0	132.0					11																	43923105		2203	4300	6503	SO:0001583	missense	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43923105G>C	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.499G>C	11.37:g.43923105G>C	ENSP00000302232:p.Glu167Gln					ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.E20Q	p.E167Q	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN			8	942	+			167					A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	ENST00000302708.4	37	c.499G>C	CCDS7906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.392|7.392	0.630902|0.630902	0.14322|0.14322	.|.	.|.	ENSG00000166199|ENSG00000166199	ENST00000302708;ENST00000529366|ENST00000532129	T;T|.	0.14516|.	2.5;2.5|.	5.67|5.67	3.78|3.78	0.43462|0.43462	.|.	0.396641|.	0.30142|.	N|.	0.010301|.	T|T	0.39627|0.39627	0.1085|0.1085	N|N	0.16833|0.16833	0.445|0.445	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.12156|.	0.007|.	T|T	0.10917|0.10917	-1.0609|-1.0609	10|5	0.22706|.	T|.	0.39|.	-1.252|-1.252	10.5976|10.5976	0.45347|0.45347	0.0719:0.1461:0.782:0.0|0.0719:0.1461:0.782:0.0	.|.	167|.	Q96Q83|.	ALKB3_HUMAN|.	Q|T	167;166|36	ENSP00000302232:E167Q;ENSP00000435848:E166Q|.	ENSP00000302232:E167Q|.	E|R	+|+	1|2	0|0	ALKBH3|ALKBH3	43879681|43879681	0.445000|0.445000	0.25657|0.25657	0.332000|0.332000	0.25469|0.25469	0.932000|0.932000	0.56968|0.56968	1.087000|1.087000	0.30865|0.30865	0.725000|0.725000	0.32318|0.32318	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.507	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		84	92	84	92	---	---	---	---
OR4X1	390113	broad.mit.edu	37	11	48285677	48285677	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:48285677G>C	ENST00000320048.1	+	1	265	c.265G>C	c.(265-267)Gtc>Ctc	p.V89L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V89L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CAAGAGGAAAGTCATTTCTCT	0.468																																						uc010rht.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(265-267)GTC>CTC		olfactory receptor, family 4, subfamily X,							93.0	88.0	90.0					11																	48285677		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285677G>C	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.265G>C	11.37:g.48285677G>C	ENSP00000321506:p.Val89Leu						p.V89L	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	265	+			89			Extracellular (Potential).		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.265G>C	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	4.379	0.069939	0.08436	.	.	ENSG00000176567	ENST00000320048	T	0.00551	6.65	4.29	-0.0666	0.13763	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	L	0.28740	0.885	0.09310	N	1	B	0.25521	0.128	B	0.24701	0.055	T	0.44802	-0.9304	9	0.87932	D	0	.	4.6487	0.12584	0.1833:0.0:0.5189:0.2978	.	89	Q8NH49	OR4X1_HUMAN	L	89	ENSP00000321506:V89L	ENSP00000321506:V89L	V	+	1	0	OR4X1	48242253	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.521000	0.00951	0.182000	0.20032	0.563000	0.77884	GTC		PASS	0.468	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		40	141	40	141	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49178359	49178359	+	Splice_Site	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:49178359C>A	ENST00000256999.2	-	15	1793	c.1533G>T	c.(1531-1533)agG>agT	p.R511S	FOLH1_ENST00000343844.4_Splice_Site_p.R203S|FOLH1_ENST00000533034.1_Splice_Site_p.R496S|FOLH1_ENST00000356696.3_Splice_Site_p.R511S|FOLH1_ENST00000340334.7_Splice_Site_p.R496S	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	511	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R511S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATTTGCTTATCCTTTTAGAGA	0.328																																						uc001ngy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1531-1533)AGG>AGT		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						47.0	49.0	48.0					11																	49178359		2194	4280	6474	SO:0001630	splice_region_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49178359C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1533-1G>T	11.37:g.49178359C>A						FOLH1_uc001ngx.2_5'Flank|FOLH1_uc001ngz.2_Missense_Mutation_p.R511S|FOLH1_uc009yly.2_Missense_Mutation_p.R496S|FOLH1_uc009ylz.2_Missense_Mutation_p.R496S|FOLH1_uc009yma.2_Missense_Mutation_p.R203S	p.R511S	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			15	1794	-			511			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1533G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	3.325	-0.137935	0.06711	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	3.78	-0.686	0.11324	.	0.402999	0.23640	N	0.046040	T	0.24470	0.0593	L	0.35854	1.095	0.53005	D	0.999964	B;B;B;B	0.21147	0.052;0.041;0.046;0.002	B;B;B;B	0.26310	0.068;0.029;0.031;0.005	T	0.09975	-1.0650	10	0.09590	T	0.72	.	5.1505	0.15007	0.0:0.5621:0.1509:0.287	.	496;496;511;511	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	S	511;511;496;203;496;514	ENSP00000256999:R511S;ENSP00000349129:R511S;ENSP00000344131:R496S;ENSP00000344086:R203S;ENSP00000431463:R496S	ENSP00000256999:R511S	R	-	3	2	FOLH1	49134935	1.000000	0.71417	0.899000	0.35326	0.198000	0.23893	1.666000	0.37460	-0.214000	0.10078	-0.474000	0.04947	AGG		PASS	0.328	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	Missense_Mutation	30	142	30	142	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563389	55563389	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:55563389A>G	ENST00000335605.1	+	1	358	c.358A>G	c.(358-360)Atg>Gtg	p.M120V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M120V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCTGGCAGTGATGGCCTATGA	0.507																																						uc010rim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(358-360)ATG>GTG		olfactory receptor, family 5, subfamily D,							115.0	96.0	102.0					11																	55563389		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563389A>G	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.358A>G	11.37:g.55563389A>G	ENSP00000334456:p.Met120Val						p.M120V	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	358	+		all_epithelial(135;0.196)	120			Helical; Name=3; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.358A>G	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	a	16.57	3.160304	0.57368	.	.	ENSG00000186113	ENST00000335605	T	0.00995	5.46	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.10165	0.0249	H	0.97564	4.03	0.37428	D	0.913899	D	0.89917	1.0	D	0.70016	0.967	T	0.08806	-1.0704	10	0.87932	D	0	-34.2412	13.7086	0.62654	1.0:0.0:0.0:0.0	.	120	Q8NGL3	OR5DE_HUMAN	V	120	ENSP00000334456:M120V	ENSP00000334456:M120V	M	+	1	0	OR5D14	55319965	1.000000	0.71417	0.902000	0.35471	0.774000	0.43823	6.591000	0.74090	1.916000	0.55485	0.523000	0.50628	ATG		PASS	0.507	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		32	100	32	100	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587515	55587515	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:55587515T>A	ENST00000333976.4	+	1	430	c.410T>A	c.(409-411)aTg>aAg	p.M137K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M137K(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACAGTTAACATGTCCCAGAAA	0.468																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(409-411)ATG>AAG		olfactory receptor, family 5, subfamily D,							185.0	172.0	177.0					11																	55587515		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587515T>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.410T>A	11.37:g.55587515T>A	ENSP00000335025:p.Met137Lys						p.M137K	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	410	+		all_epithelial(135;0.208)	137			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.410T>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	14.76	2.632287	0.46944	.	.	ENSG00000186119	ENST00000333976	T	0.00601	6.29	4.84	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.291554	0.25019	N	0.033762	T	0.02767	0.0083	H	0.98446	4.235	0.30167	N	0.801606	P	0.49783	0.928	P	0.48654	0.585	T	0.05566	-1.0877	10	0.87932	D	0	-33.9711	8.1069	0.30892	0.0:0.1707:0.0:0.8293	.	137	Q8NGL1	OR5DI_HUMAN	K	137	ENSP00000335025:M137K	ENSP00000335025:M137K	M	+	2	0	OR5D18	55344091	1.000000	0.71417	0.118000	0.21660	0.474000	0.32979	3.267000	0.51577	0.835000	0.34877	0.457000	0.33378	ATG		PASS	0.468	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		96	366	96	366	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872720	55872720	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:55872720T>C	ENST00000313503.1	+	1	202	c.202T>C	c.(202-204)Tca>Cca	p.S68P		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S68P(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TACTCACCTGTCATTTATTGA	0.428										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(202-204)TCA>CCA		olfactory receptor, family 8, subfamily H,							225.0	214.0	218.0					11																	55872720		2201	4292	6493	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872720T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.202T>C	11.37:g.55872720T>C	ENSP00000323982:p.Ser68Pro	HNSCC(53;0.14)					p.S68P	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	202	+	Esophageal squamous(21;0.00693)		68			Helical; Name=2; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.202T>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	14.91	2.677090	0.47886	.	.	ENSG00000181767	ENST00000313503	T	0.12255	2.7	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000576	T	0.48804	0.1520	H	0.97587	4.035	0.23510	N	0.997526	D	0.89917	1.0	D	0.74674	0.984	T	0.53718	-0.8399	10	0.72032	D	0.01	.	10.4405	0.44462	0.0:0.0:0.163:0.837	.	68	Q8N162	OR8H2_HUMAN	P	68	ENSP00000323982:S68P	ENSP00000323982:S68P	S	+	1	0	OR8H2	55629296	0.000000	0.05858	0.966000	0.40874	0.677000	0.39632	0.058000	0.14301	1.590000	0.49995	0.362000	0.22060	TCA		PASS	0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		180	649	180	649	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944987	55944987	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:55944987G>T	ENST00000312298.1	+	1	894	c.894G>T	c.(892-894)aaG>aaT	p.K298N		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K298N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AGGACGTAAAGGAGGCAGTGA	0.373																																						uc010rjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(892-894)AAG>AAT		olfactory receptor, family 5, subfamily J,							65.0	73.0	70.0					11																	55944987		2199	4296	6495	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944987G>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.894G>T	11.37:g.55944987G>T	ENSP00000310788:p.Lys298Asn						p.K298N	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	894	+	Esophageal squamous(21;0.00693)		298			Cytoplasmic (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.894G>T	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	6.669	0.492037	0.12702	.	.	ENSG00000174957	ENST00000312298	T	0.40756	1.02	4.26	-2.4	0.06583	.	0.204155	0.33670	N	0.004665	T	0.46756	0.1409	M	0.91872	3.25	0.22675	N	0.998866	B	0.22746	0.074	B	0.21917	0.037	T	0.53187	-0.8474	10	0.72032	D	0.01	.	10.0509	0.42214	0.6053:0.0:0.3947:0.0	.	298	Q8NH18	OR5J2_HUMAN	N	298	ENSP00000310788:K298N	ENSP00000310788:K298N	K	+	3	2	OR5J2	55701563	0.000000	0.05858	0.221000	0.23827	0.006000	0.05464	-1.265000	0.02844	-0.444000	0.07170	-0.214000	0.12660	AAG		PASS	0.373	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		25	64	25	64	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57080095	57080095	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:57080095C>A	ENST00000532437.1	-	4	2378	c.2067G>T	c.(2065-2067)ctG>ctT	p.L689L	TNKS1BP1_ENST00000358252.3_Silent_p.L689L|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	689	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.L689L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GTGGTGAAGCCAGGAGGTCGT	0.632																																						uc001njr.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2065-2067)CTG>CTT		tankyrase 1-binding protein 1							52.0	54.0	54.0					11																	57080095		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57080095C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2067G>T	11.37:g.57080095C>A						TNKS1BP1_uc001njs.2_Silent_p.L689L|TNKS1BP1_uc009ymd.1_Silent_p.L140L	p.L689L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			4	2379	-		all_epithelial(135;0.21)	689			Pro-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.2067G>T	CCDS7951.1																																																																																				PASS	0.632	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		47	46	47	46	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58978896	58978896	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:58978896G>A	ENST00000361050.3	-	1	1528	c.1443C>T	c.(1441-1443)ggC>ggT	p.G481G	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	481						integral component of membrane (GO:0016021)		p.G481G(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGCTGAAGAGGCCCCCAAAAA	0.483																																						uc001nnu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1441-1443)GGC>GGT		macrophage expressed gene 1 precursor							85.0	80.0	81.0					11																	58978896		1884	4115	5999	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58978896G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1443C>T	11.37:g.58978896G>A							p.G481G	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	1599	-		all_epithelial(135;0.125)	481			Extracellular (Potential).		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.1443C>T	CCDS41650.1																																																																																				PASS	0.483	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		47	136	47	136	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60184273	60184273	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:60184273C>T	ENST00000300187.6	+	5	2109	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	MS4A14_ENST00000531783.1_Missense_Mutation_p.A644V|MS4A14_ENST00000531787.1_Missense_Mutation_p.A499V|MS4A14_ENST00000395005.2_Missense_Mutation_p.A594V	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	611	Gln-rich.					integral component of membrane (GO:0016021)		p.A611V(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GACCAGCCGGCCCAAGAGAAG	0.453																																						uc001npj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1831-1833)GCC>GTC		membrane-spanning 4-domains, subfamily A, member							52.0	45.0	47.0					11																	60184273		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60184273C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1832C>T	11.37:g.60184273C>T	ENSP00000300187:p.Ala611Val					MS4A14_uc001npi.2_Missense_Mutation_p.A499V|MS4A14_uc001npn.2_Missense_Mutation_p.A349V|MS4A14_uc001npk.2_Missense_Mutation_p.A594V|MS4A14_uc001npl.2_Missense_Mutation_p.A349V|MS4A14_uc001npm.2_Missense_Mutation_p.A349V	p.A611V	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	2397	+			611			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1832C>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.164417	0.01673	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.30714	1.52;2.72;1.52;3.09	2.85	-0.61	0.11604	.	6.986190	0.00447	N	0.000095	T	0.15825	0.0381	N	0.11927	0.2	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.10543	-1.0625	10	0.12766	T	0.61	-0.0333	3.8658	0.09016	0.0:0.4159:0.1837:0.4004	.	594;611	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	V	499;611;594;644	ENSP00000437222:A499V;ENSP00000300187:A611V;ENSP00000378453:A594V;ENSP00000433761:A644V	ENSP00000300187:A611V	A	+	2	0	MS4A14	59940849	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.805000	0.04530	-0.276000	0.09206	0.563000	0.77884	GCC		PASS	0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			16	55	16	55	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62415818	62415818	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:62415818C>A	ENST00000330574.2	-	2	1786	c.1734G>T	c.(1732-1734)ttG>ttT	p.L578F	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	578					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.L578F(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTAGCAGTGCCAAGTTGCGCA	0.647																																						uc001nud.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1732-1734)TTG>TTT		integrator complex subunit 5							44.0	45.0	45.0					11																	62415818		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415818C>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1734G>T	11.37:g.62415818C>A	ENSP00000327889:p.Leu578Phe					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.L578F	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1787	-			578					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1734G>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201992	0.38905	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.28	3.35	0.38373	.	0.000000	0.64402	D	0.000002	T	0.51568	0.1682	L	0.27053	0.805	0.32087	N	0.592368	D	0.76494	0.999	D	0.87578	0.998	T	0.59332	-0.7474	9	0.66056	D	0.02	.	8.6649	0.34114	0.0:0.8055:0.0:0.1945	.	578	Q6P9B9	INT5_HUMAN	F	578	.	ENSP00000327889:L578F	L	-	3	2	INTS5	62172394	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	1.722000	0.38042	0.751000	0.32900	-0.136000	0.14681	TTG		PASS	0.647	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		66	74	66	74	---	---	---	---
NAALADL1	10004	broad.mit.edu	37	11	64825411	64825411	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:64825411C>A	ENST00000358658.3	-	3	443	c.416G>T	c.(415-417)gGg>gTg	p.G139V	NAALADL1_ENST00000340252.4_Missense_Mutation_p.G139V|NAALADL1_ENST00000356632.3_Missense_Mutation_p.G139V|NAALADL1_ENST00000355721.3_Missense_Mutation_p.G139V|NAALADL1_ENST00000339885.2_Missense_Mutation_p.G139V|NAALADL1_ENST00000355369.2_Missense_Mutation_p.G139V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.G139V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCCTTGCTCCCCGGTCACGTT	0.652																																						uc001ocn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)GGG>GTG		N-acetylated alpha-linked acidic							102.0	98.0	99.0					11																	64825411		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825411C>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.416G>T	11.37:g.64825411C>A	ENSP00000351484:p.Gly139Val					NAALADL1_uc010rnw.1_5'UTR	p.G139V	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			3	432	-			139			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.416G>T	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	9.076	0.998051	0.19043	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	4.59	1.57	0.23409	.	0.534638	0.20025	N	0.100830	T	0.33614	0.0869	M	0.62723	1.935	0.40773	D	0.983101	B	0.14012	0.009	B	0.17722	0.019	T	0.32587	-0.9901	10	0.66056	D	0.02	-11.0185	1.8206	0.03109	0.1639:0.4914:0.1594:0.1853	.	139	Q9UQQ1	NALDL_HUMAN	V	139	ENSP00000351484:G139V;ENSP00000347530:G139V;ENSP00000340111:G139V;ENSP00000344244:G139V;ENSP00000347955:G139V;ENSP00000349045:G139V	ENSP00000340111:G139V	G	-	2	0	NAALADL1	64581987	0.008000	0.16893	0.987000	0.45799	0.343000	0.28985	0.363000	0.20301	0.539000	0.28788	0.561000	0.74099	GGG		PASS	0.652	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		88	216	88	216	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68205913	68205913	+	Splice_Site	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:68205913G>C	ENST00000294304.7	+	20	4217		c.e20-1			NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5						adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.?(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCTCTGGCAGAAATCACCAA	0.602																																						uc001ont.2																			1	Unknown(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.e20-1		low density lipoprotein receptor-related protein							86.0	92.0	90.0					11																	68205913		2200	4294	6494	SO:0001630	splice_region_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68205913G>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4112-1G>C	11.37:g.68205913G>C						LRP5_uc009ysg.2_Splice_Site_p.E781_splice	p.E1371_splice	NM_002335	NP_002326	O75197	LRP5_HUMAN			20	4187	+								Q96TD6|Q9UES7|Q9UP66	Splice_Site	SNP	ENST00000294304.7	37	c.4112_splice	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	6.240	0.412417	0.11812	.	.	ENSG00000162337	ENST00000294304	.	.	.	4.5	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9084	0.47094	0.0868:0.0:0.9132:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRP5	67962489	1.000000	0.71417	0.998000	0.56505	0.032000	0.12392	8.247000	0.89830	1.144000	0.42321	-0.261000	0.10672	.		PASS	0.602	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335	Intron	30	165	30	165	---	---	---	---
TYR	7299	broad.mit.edu	37	11	88911393	88911393	+	Missense_Mutation	SNP	G	G	T	rs137854890		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:88911393G>T	ENST00000263321.5	+	1	774	c.272G>T	c.(271-273)tGc>tTc	p.C91F	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	91					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.C91F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ACCTGCCAGTGCTCTGGCAAC	0.502																																						uc001pcs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3	GRCh37	HM040129	TYR	M	rs137854890	c.(271-273)TGC>TTC		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						48.0	49.0	49.0					11																	88911393		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911393G>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.272G>T	11.37:g.88911393G>T	ENSP00000263321:p.Cys91Phe						p.C91F	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	354	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	91			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.272G>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507473	0.85282	.	.	ENSG00000077498	ENST00000263321	D	0.86562	-2.14	6.07	6.07	0.98685	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.95695	0.8600	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95706	0.8753	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	91	P14679	TYRO_HUMAN	F	91	ENSP00000263321:C91F	.	C	+	2	0	TYR	88551041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.885000	0.99019	0.655000	0.94253	TGC		PASS	0.502	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		24	59	24	59	---	---	---	---
CCDC67	159989	broad.mit.edu	37	11	93097425	93097426	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:93097425_93097426CC>AA	ENST00000298050.3	+	5	497_498	c.397_398CC>AA	c.(397-399)CCc>AAc	p.P133N		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	133					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.P125N(1)|p.P125T(1)|p.P125H(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGAAGAAATACCCTTTGAACTG	0.307																																						uc001pdq.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(397-399)CCC>ACC|c.(397-399)CCC>CAC		coiled-coil domain containing 67																																				SO:0001583	missense	159989							g.chr11:93097425C>A|g.chr11:93097426C>A	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		Exception_encountered	11.37:g.93097425_93097426delinsAA	ENSP00000298050:p.Pro133Asn					CCDC67_uc001pdo.1_Missense_Mutation_p.P133T|CCDC67_uc001pdp.2_Missense_Mutation_p.P133T|CCDC67_uc001pdo.1_Missense_Mutation_p.P133H|CCDC67_uc001pdp.2_Missense_Mutation_p.P133H	p.P133T|p.P133H	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			5	497|498	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	133			Potential.		Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.397C>A|c.398C>A	CCDS44707.1																																																																																				PASS	0.307	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		15|14	26	14	26	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93806219	93806219	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:93806219G>T	ENST00000315765.9	+	7	1269	c.1261G>T	c.(1261-1263)Gac>Tac	p.D421Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	421	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.D422Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CACACAAGGGGACAACAGAAT	0.378																																						uc001pep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1261-1263)GAC>TAC		hephaestin-like 1 precursor							73.0	68.0	69.0					11																	93806219		1857	4104	5961	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93806219G>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1261G>T	11.37:g.93806219G>T	ENSP00000313699:p.Asp421Tyr					uc001pen.1_Intron	p.D421Y	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			7	1418	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	421			Plastocyanin-like 3.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1261G>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767106	0.31320	.	.	ENSG00000181333	ENST00000315765	D	0.98792	-5.14	5.66	1.63	0.23807	Cupredoxin (2);	1.041440	0.07462	N	0.900842	D	0.97374	0.9141	L	0.54323	1.7	0.09310	N	1	P	0.34977	0.478	B	0.38921	0.285	D	0.92832	0.6281	10	0.72032	D	0.01	.	9.3098	0.37898	0.4763:0.0:0.5237:0.0	.	421	Q6MZM0	HPHL1_HUMAN	Y	421	ENSP00000313699:D421Y	ENSP00000313699:D421Y	D	+	1	0	HEPHL1	93445867	0.001000	0.12720	0.717000	0.30585	0.967000	0.64934	0.823000	0.27366	0.045000	0.15804	-0.157000	0.13467	GAC		PASS	0.378	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		23	42	23	42	---	---	---	---
PANX1	24145	broad.mit.edu	37	11	93913172	93913172	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:93913172T>A	ENST00000227638.3	+	4	1335	c.950T>A	c.(949-951)gTt>gAt	p.V317D	PANX1_ENST00000436171.2_Missense_Mutation_p.V317D	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	317					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)	p.V317D(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	ACTTTTGATGTTCTGCATTTC	0.428																																						uc001per.2																			1	Substitution - Missense(1)		lung(1)		0						c.(949-951)GTT>GAT		pannexin 1							116.0	106.0	109.0					11																	93913172		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93913172T>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.950T>A	11.37:g.93913172T>A	ENSP00000227638:p.Val317Asp					PANX1_uc001peq.2_Missense_Mutation_p.V317D	p.V317D	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			4	1335	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	317			Cytoplasmic (Potential).		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.950T>A	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187170	0.38609	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.20463	2.07;2.07	5.42	5.42	0.78866	.	0.325178	0.33457	N	0.004898	T	0.30386	0.0763	L	0.54908	1.71	0.34842	D	0.740782	P;P	0.46395	0.877;0.874	B;P	0.48227	0.368;0.571	T	0.43228	-0.9404	10	0.49607	T	0.09	-19.9726	15.1576	0.72755	0.0:0.0:0.0:1.0	.	317;317	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	D	317	ENSP00000227638:V317D;ENSP00000411461:V317D	ENSP00000227638:V317D	V	+	2	0	PANX1	93552820	0.837000	0.29446	0.121000	0.21740	0.097000	0.18754	2.809000	0.47971	2.058000	0.61347	0.533000	0.62120	GTT		PASS	0.428	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		43	148	43	148	---	---	---	---
MMP8	4317	broad.mit.edu	37	11	102587099	102587099	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:102587099C>A	ENST00000236826.3	-	6	934	c.836G>T	c.(835-837)tGt>tTt	p.C279F		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	279					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.C279F(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ACTGGGGTCACAGGGTTTGGG	0.363																																						uc001phe.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(835-837)TGT>TTT		matrix metalloproteinase 8 preproprotein							126.0	132.0	130.0					11																	102587099		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102587099C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.836G>T	11.37:g.102587099C>A	ENSP00000236826:p.Cys279Phe					MMP8_uc010rut.1_Missense_Mutation_p.C214F|MMP8_uc010ruu.1_Missense_Mutation_p.C256F	p.C279F	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	6	935	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	279					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.836G>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845035	0.32606	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942	T	0.20881	2.04	5.27	4.36	0.52297	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000009	T	0.58424	0.2121	H	0.97491	4.015	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68368	-0.5427	10	0.87932	D	0	.	9.193	0.37211	0.0:0.8312:0.0:0.1688	.	279;214;279	A8K9E4;F5GXB5;P22894	.;.;MMP8_HUMAN	F	279;256;214	ENSP00000236826:C279F	ENSP00000236826:C279F	C	-	2	0	MMP8	102092309	1.000000	0.71417	0.469000	0.27204	0.067000	0.16453	4.186000	0.58337	1.211000	0.43351	0.563000	0.77884	TGT		PASS	0.363	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		55	190	55	190	---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103908027	103908027	+	Silent	SNP	G	G	A	rs56847546	byFrequency	TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:103908027G>A	ENST00000302259.3	+	1	720	c.477G>A	c.(475-477)ctG>ctA	p.L159L	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	159							aspartic-type endopeptidase activity (GO:0004190)	p.L159L(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ATCTGTCCCTGCTCAAGGAAC	0.622																																						uc001phr.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(475-477)CTG>CTA		DDI1, DNA-damage inducible 1, homolog 1							61.0	59.0	60.0					11																	103908027		2202	4299	6501	SO:0001819	synonymous_variant	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908027G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.477G>A	11.37:g.103908027G>A						PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.L159L	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	720	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	159					Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	37	c.477G>A	CCDS31660.1																																																																																				PASS	0.622	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		71	78	71	78	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106680922	106680922	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:106680922T>A	ENST00000526355.2	-	5	1957	c.1489A>T	c.(1489-1491)Att>Ttt	p.I497F	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.I497F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.I518F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	497					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.I497F(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CCAGGGAAAATAGAATATAGA	0.418																																						uc001pjg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1489-1491)ATT>TTT		guanylate cyclase 1, soluble, alpha 2							115.0	116.0	115.0					11																	106680922		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106680922T>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1489A>T	11.37:g.106680922T>A	ENSP00000431245:p.Ile497Phe					GUCY1A2_uc010rvo.1_Missense_Mutation_p.I518F|GUCY1A2_uc009yxn.1_Missense_Mutation_p.I497F	p.I497F	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	1879	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	497					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1489A>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789544	0.70337	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.89875	-2.58;-2.58;-2.58	5.47	5.47	0.80525	Haem NO binding associated (1);Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.45606	U	0.000342	D	0.93307	0.7867	M	0.87456	2.885	0.80722	D	1	P;P;P	0.45531	0.711;0.86;0.659	P;P;B	0.52598	0.45;0.703;0.37	D	0.93932	0.7215	10	0.56958	D	0.05	.	14.7305	0.69377	0.0:0.0:0.0:1.0	.	518;497;497	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	F	497;497;518	ENSP00000431245:I497F;ENSP00000282249:I497F;ENSP00000344874:I518F	ENSP00000282249:I497F	I	-	1	0	GUCY1A2	106186132	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	8.040000	0.89188	2.071000	0.62044	0.528000	0.53228	ATT		PASS	0.418	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			45	136	45	136	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108044095	108044095	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:108044095G>A	ENST00000278612.8	-	13	1721	c.1616C>T	c.(1615-1617)tCa>tTa	p.S539L	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	539					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S539L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCCAGTTAATGAAGTATCTTG	0.299																																						uc001pjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1615-1617)TCA>TTA		nuclear protein,  ataxia-telangiectasia locus							48.0	45.0	46.0					11																	108044095		1798	4064	5862	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108044095G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1616C>T	11.37:g.108044095G>A	ENSP00000278612:p.Ser539Leu					NPAT_uc001pka.2_Missense_Mutation_p.S334L	p.S539L	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1718	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)	539					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.1616C>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736352	0.30774	.	.	ENSG00000149308	ENST00000278612	T	0.25579	1.79	6.08	4.13	0.48395	.	0.550760	0.18926	N	0.127325	T	0.16557	0.0398	L	0.29908	0.895	0.09310	N	1	B;B	0.17667	0.023;0.003	B;B	0.12156	0.007;0.007	T	0.04885	-1.0920	10	0.34782	T	0.22	-2.8865	7.0014	0.24811	0.1334:0.0:0.7184:0.1482	.	539;539	B9EG70;Q14207	.;NPAT_HUMAN	L	539	ENSP00000278612:S539L	ENSP00000278612:S539L	S	-	2	0	NPAT	107549305	0.677000	0.27577	0.985000	0.45067	0.995000	0.86356	2.846000	0.48262	2.894000	0.99253	0.655000	0.94253	TCA		PASS	0.299	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		22	104	22	104	---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310260	124310260	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:124310260C>A	ENST00000328064.2	-	1	794	c.722G>T	c.(721-723)tGc>tTc	p.C241F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	241					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.C241F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTGGGAGCTGCAGGTGCTGAA	0.488																																						uc010sal.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)TGC>TTC		olfactory receptor, family 8, subfamily B,							120.0	109.0	113.0					11																	124310260		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310260C>A	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.722G>T	11.37:g.124310260C>A	ENSP00000330280:p.Cys241Phe						p.C241F	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	722	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	241			Helical; Name=6; (Potential).		A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.722G>T	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332236	0.60853	.	.	ENSG00000197125	ENST00000328064	T	0.00368	7.75	3.7	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000048	T	0.01558	0.0050	H	0.98027	4.13	0.50467	D	0.999877	D	0.63046	0.992	D	0.65010	0.931	T	0.23048	-1.0199	10	0.87932	D	0	.	11.6796	0.51451	0.0:0.9102:0.0:0.0898	.	241	Q15620	OR8B8_HUMAN	F	241	ENSP00000330280:C241F	ENSP00000330280:C241F	C	-	2	0	OR8B8	123815470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.495000	0.60353	1.138000	0.42230	0.655000	0.94253	TGC		PASS	0.488	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		163	168	163	168	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128840518	128840518	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr11:128840518C>A	ENST00000310343.9	-	22	4547	c.4548G>T	c.(4546-4548)caG>caT	p.Q1516H	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1167H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1167H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1516	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.Q1167H(1)|p.Q1516H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACACTTGGTGCTGCTCCAATT	0.502																																						uc009zcp.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(4546-4548)CAG>CAT		Rho GTPase-activating protein isoform 1							88.0	82.0	84.0					11																	128840518		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840518C>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4548G>T	11.37:g.128840518C>A	ENSP00000310561:p.Gln1516His					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.Q475H|ARHGAP32_uc001qez.2_Missense_Mutation_p.Q1167H	p.Q1516H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	4548	-			1516			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.4548G>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121267	0.37436	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.10763	2.86;2.84;2.84	5.95	-3.49	0.04724	.	0.653584	0.15682	N	0.249851	T	0.12518	0.0304	L	0.50333	1.59	0.21325	N	0.999725	D	0.53885	0.963	P	0.48901	0.594	T	0.09796	-1.0658	10	0.66056	D	0.02	.	9.2432	0.37509	0.0923:0.4776:0.0:0.4301	.	1516	A7KAX9	RHG32_HUMAN	H	1516;1167;1167	ENSP00000310561:Q1516H;ENSP00000376425:Q1167H;ENSP00000432862:Q1167H	ENSP00000310561:Q1516H	Q	-	3	2	ARHGAP32	128345728	0.001000	0.12720	0.427000	0.26684	0.829000	0.46940	-1.710000	0.01888	-0.501000	0.06605	-0.302000	0.09304	CAG		PASS	0.502	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		35	104	35	104	---	---	---	---
CLECL1	160365	broad.mit.edu	37	12	9885654	9885654	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:9885654C>T	ENST00000327839.3	-	1	241	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V69V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						GAGAGAAGACCACAAATGATG	0.443																																						uc001qwj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)GTG>GTA		type II transmembrane protein DCAL1							89.0	89.0	89.0					12																	9885654		2203	4300	6503	SO:0001819	synonymous_variant	160365					integral to membrane|plasma membrane	sugar binding	g.chr12:9885654C>T	AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.207G>A	12.37:g.9885654C>T							p.V69V	NM_172004	NP_742001	Q8IZS7	CLCL1_HUMAN			1	207	-			69			Helical; Signal-anchor for type II membrane protein; (Potential).			Silent	SNP	ENST00000327839.3	37	c.207G>A	CCDS8603.1	.	.	.	.	.	.	.	.	.	.	C	1.968	-0.437194	0.04636	.	.	ENSG00000184293	ENST00000542530	.	.	.	1.87	1.87	0.25490	.	.	.	.	.	.	.	.	.	.	.	0.23277	N	0.997993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2488	0.26138	0.0:1.0:0.0:0.0	.	.	.	.	X	21	.	.	W	-	2	0	CLECL1	9776921	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.024000	0.13555	1.347000	0.45714	0.643000	0.83706	TGG		PASS	0.443	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004		37	126	37	126	---	---	---	---
CLEC9A	283420	broad.mit.edu	37	12	10215708	10215708	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:10215708A>G	ENST00000355819.1	+	7	987	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	125	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Y125C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GAAAGTTGTTACTATGTCTCT	0.343																																						uc001qxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(373-375)TAC>TGC		C-type lectin domain family 9, member A							131.0	134.0	133.0					12																	10215708		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10215708A>G		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.374A>G	12.37:g.10215708A>G	ENSP00000348074:p.Tyr125Cys						p.Y125C	NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN			7	987	+			125			Extracellular (Potential).|C-type lectin.		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.374A>G	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042686	0.35989	.	.	ENSG00000197992	ENST00000355819	T	0.42513	0.97	4.65	4.65	0.58169	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.41500	D	0.000865	T	0.73877	0.3643	H	0.96833	3.89	0.44079	D	0.996833	D	0.89917	1.0	D	0.85130	0.997	T	0.81686	-0.0820	10	0.87932	D	0	.	11.0445	0.47850	1.0:0.0:0.0:0.0	.	125	Q6UXN8	CLC9A_HUMAN	C	125	ENSP00000348074:Y125C	ENSP00000348074:Y125C	Y	+	2	0	CLEC9A	10106975	0.977000	0.34250	0.713000	0.30519	0.082000	0.17680	2.750000	0.47500	2.040000	0.60383	0.477000	0.44152	TAC		PASS	0.343	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		110	109	110	109	---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21471727	21471727	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:21471727C>A	ENST00000307378.6	-	4	911	c.191G>T	c.(190-192)aGc>aTc	p.S64I	SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S64I|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S62I|SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000458504.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	64					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S64I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	AATCTCAAAGCTTCCATTAAT	0.323																																						uc001rer.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(190-192)AGC>ATC		organic anion transporting polypeptide A							94.0	94.0	94.0					12																	21471727		2202	4298	6500	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21471727C>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.191G>T	12.37:g.21471727C>A	ENSP00000305974:p.Ser64Ile					SLCO1A2_uc001res.2_Missense_Mutation_p.S64I|SLCO1A2_uc010siq.1_5'UTR|SLCO1A2_uc010sio.1_5'UTR|SLCO1A2_uc010sip.1_Intron|SLCO1A2_uc001ret.2_Missense_Mutation_p.S62I|SLCO1A2_uc001reu.2_Missense_Mutation_p.S44I	p.S64I	NM_021094	NP_066580	P46721	SO1A2_HUMAN			2	442	-			64			Helical; Name=2; (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.191G>T	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844904	0.91197	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443;ENST00000421294;ENST00000450590;ENST00000435179;ENST00000445053	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.68	5.68	0.88126	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	M	0.88979	2.995	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.80065	-0.1538	10	0.49607	T	0.09	.	19.4147	0.94689	0.0:1.0:0.0:0.0	.	44;62;64	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	I	64;64;62;64;64;64;64;64;62	ENSP00000305974:S64I;ENSP00000393973:S64I;ENSP00000375088:S62I;ENSP00000416190:S64I;ENSP00000409314:S64I;ENSP00000390572:S64I;ENSP00000407462:S64I;ENSP00000401195:S64I;ENSP00000409691:S62I	ENSP00000305974:S64I	S	-	2	0	SLCO1A2	21362994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.043000	0.76572	2.683000	0.91414	0.655000	0.94253	AGC		PASS	0.323	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		23	30	23	30	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	39967633	39967633	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:39967633C>A	ENST00000308666.3	-	9	2023	c.1888G>T	c.(1888-1890)Gcc>Tcc	p.A630S		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	630	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.A630S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCCAGCAAGGCATATTTTGGT	0.338																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1888-1890)GCC>TCC		ATP-binding cassette, sub-family D, member 2							86.0	78.0	81.0					12																	39967633		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39967633C>A	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1888G>T	12.37:g.39967633C>A	ENSP00000310688:p.Ala630Ser						p.A630S	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			9	2314	-			630			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.1888G>T	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156155	0.94686	.	.	ENSG00000173208	ENST00000308666	D	0.93859	-3.3	5.13	5.13	0.70059	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.130760	0.50627	D	0.000113	D	0.96651	0.8907	M	0.88906	2.99	0.80722	D	1	P	0.52577	0.954	P	0.56788	0.806	D	0.96845	0.9621	9	.	.	.	-25.3711	18.9392	0.92598	0.0:1.0:0.0:0.0	.	630	Q9UBJ2	ABCD2_HUMAN	S	630	ENSP00000310688:A630S	.	A	-	1	0	ABCD2	38253900	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.702000	0.84576	2.529000	0.85273	0.563000	0.77884	GCC		PASS	0.338	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		38	127	38	127	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43750293	43750293	+	Silent	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:43750293T>C	ENST00000389420.3	-	38	5636	c.5637A>G	c.(5635-5637)agA>agG	p.R1879R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1879	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1879R(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACCTCTGATCTTCGTATGC	0.413																																						uc010skx.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(5635-5637)AGA>AGG		a disintegrin-like and metalloprotease with							88.0	80.0	83.0					12																	43750293		2203	4299	6502	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43750293T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5637A>G	12.37:g.43750293T>C							p.R1879R	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	38	5637	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1879			GON.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.5637A>G	CCDS31778.2																																																																																				PASS	0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		17	21	17	21	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43862455	43862455	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:43862455C>G	ENST00000389420.3	-	8	1170	c.1171G>C	c.(1171-1173)Gaa>Caa	p.E391Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E391Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	391	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E391Q(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCTTTTTCTTCATTAATAAAG	0.343																																						uc010skx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1171-1173)GAA>CAA		a disintegrin-like and metalloprotease with							120.0	127.0	125.0					12																	43862455		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43862455C>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1171G>C	12.37:g.43862455C>G	ENSP00000374071:p.Glu391Gln						p.E391Q	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	8	1171	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	391			Peptidase M12B.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1171G>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537416	0.65085	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.86694	-2.16;-2.16	5.2	5.2	0.72013	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000047	D	0.90696	0.7081	L	0.37507	1.11	0.80722	D	1	P	0.50710	0.938	D	0.67725	0.953	D	0.91317	0.5079	10	0.87932	D	0	.	19.636	0.95733	0.0:1.0:0.0:0.0	.	391	P59510	ATS20_HUMAN	Q	391	ENSP00000374071:E391Q;ENSP00000448341:E391Q	ENSP00000374068:E391Q	E	-	1	0	ADAMTS20	42148722	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	7.275000	0.78548	2.814000	0.96858	0.655000	0.94253	GAA		PASS	0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		22	109	22	109	---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47172328	47172328	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:47172328T>C	ENST00000447411.1	-	10	1155	c.949A>G	c.(949-951)Agt>Ggt	p.S317G	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S317G	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	317					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.S317G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTGTCATCACTATGAGCTTCA	0.453																																						uc001rpi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(949-951)AGT>GGT		solute carrier family 38, member 4							90.0	82.0	84.0					12																	47172328		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47172328T>C	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.949A>G	12.37:g.47172328T>C	ENSP00000389843:p.Ser317Gly					SLC38A4_uc001rpj.2_Missense_Mutation_p.S317G	p.S317G	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			11	1348	-	Lung SC(27;0.192)|Renal(347;0.236)		317			Extracellular (Potential).		A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.949A>G	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	T	7.920	0.738319	0.15574	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.04317	3.65;3.65	4.83	-0.889	0.10580	.	0.984719	0.08329	N	0.962592	T	0.03390	0.0098	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47861	-0.9084	10	0.21540	T	0.41	-0.1743	10.1826	0.42977	0.0:0.4118:0.0:0.5882	.	317	Q969I6	S38A4_HUMAN	G	317	ENSP00000389843:S317G;ENSP00000266579:S317G	ENSP00000266579:S317G	S	-	1	0	SLC38A4	45458595	0.000000	0.05858	0.001000	0.08648	0.960000	0.62799	-0.001000	0.12947	-0.219000	0.10003	0.397000	0.26171	AGT		PASS	0.453	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			39	110	39	110	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48380866	48380866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:48380866G>A	ENST00000380518.3	-	21	1524	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	COL2A1_ENST00000337299.6_Nonsense_Mutation_p.Q385*|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	454	Triple-helical region.				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.Q385*(1)|p.Q454*(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)	CTTACCGTCTGACCTTTCGGG	0.627																																						uc001rqu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1360-1362)CAG>TAG		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						70.0	73.0	72.0					12																	48380866		2203	4300	6503	SO:0001587	stop_gained	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.chr12:48380866G>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.1360C>T	12.37:g.48380866G>A	ENSP00000369889:p.Gln454*					COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Nonsense_Mutation_p.Q385*	p.Q454*	NM_001844	NP_001835	P02458	CO2A1_HUMAN			21	1541	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	454			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Nonsense_Mutation	SNP	ENST00000380518.3	37	c.1360C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	40	8.248359	0.98724	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	.	.	.	4.68	4.68	0.58851	.	0.145690	0.44902	D	0.000401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	16.9284	0.86183	0.0:0.0:1.0:0.0	.	.	.	.	X	454;385;385	.	ENSP00000338213:Q385X	Q	-	1	0	COL2A1	46667133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.564000	0.45931	2.605000	0.88082	0.655000	0.94253	CAG		PASS	0.627	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		69	215	69	215	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49415826	49415826	+	Splice_Site	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:49415826C>G	ENST00000301067.7	-	53	16520	c.16521G>C	c.(16519-16521)gaG>gaC	p.E5507D	PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5507	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E5507D(1)|p.E5237D(1)									TTCCTCTCACCTCCTCTCCTT	0.522																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(16519-16521)GAG>GAC		myeloid/lymphoid or mixed-lineage leukemia 2							132.0	128.0	129.0					12																	49415826		2022	4183	6205	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49415826C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16521+1G>C	12.37:g.49415826C>G		HNSCC(34;0.089)					p.E5507D	NM_003482	NP_003473	O14686	MLL2_HUMAN			53	16521	-			5507			SET.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16521G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.227847	0.58777	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.94613	-3.47;-3.47	4.64	4.64	0.57946	SET domain (3);	0.000000	0.38381	N	0.001719	D	0.98516	0.9505	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99433	1.0936	9	.	.	.	.	16.8755	0.86051	0.0:1.0:0.0:0.0	.	5507	O14686	MLL2_HUMAN	D	5507;188	ENSP00000301067:E5507D;ENSP00000435714:E188D	.	E	-	3	2	MLL2	47702093	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.842000	0.69417	2.599000	0.87857	0.550000	0.68814	GAG		PASS	0.522	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Missense_Mutation	164	172	164	172	---	---	---	---
KRT3	3850	broad.mit.edu	37	12	53189257	53189257	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:53189257C>G	ENST00000417996.2	-	1	644	c.570G>C	c.(568-570)caG>caC	p.Q190H	KRT3_ENST00000309505.3_Missense_Mutation_p.Q190H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	190	Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.Q190H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTTGCCCAATCTGGGGGTCGA	0.537																																						uc001say.2																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)CAG>CAC		keratin 3							74.0	92.0	86.0					12																	53189257		2203	4298	6501	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189257C>G		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.570G>C	12.37:g.53189257C>G	ENSP00000413479:p.Gln190His						p.Q190H	NM_057088	NP_476429	P12035	K2C3_HUMAN			1	636	-			190			Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.570G>C	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	16.73	3.205033	0.58234	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.75589	-0.95;-0.95	4.82	4.82	0.62117	.	0.000000	0.41396	D	0.000884	D	0.83027	0.5165	M	0.78801	2.425	0.29228	N	0.873452	D	0.67145	0.996	P	0.57776	0.827	T	0.80894	-0.1178	10	0.72032	D	0.01	.	13.9782	0.64285	0.0:0.8483:0.1517:0.0	.	190	P12035	K2C3_HUMAN	H	190	ENSP00000413479:Q190H;ENSP00000312206:Q190H	ENSP00000312206:Q190H	Q	-	3	2	KRT3	51475524	0.006000	0.16342	1.000000	0.80357	0.994000	0.84299	-0.039000	0.12124	2.396000	0.81511	0.650000	0.86243	CAG		PASS	0.537	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		41	134	41	134	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56078923	56078923	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:56078923G>A	ENST00000555728.1	-	26	3493	c.3465C>T	c.(3463-3465)ggC>ggT	p.G1155G	ITGA7_ENST00000347027.6_Silent_p.G1105G|ITGA7_ENST00000257879.6_Silent_p.G1111G|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000452168.2_Silent_p.G1018G|ITGA7_ENST00000553804.1_Silent_p.G1115G			Q13683	ITA7_HUMAN	integrin, alpha 7	1155					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.G1115G(1)|p.G1111G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGCATCCGGGCCCTCCCGCC	0.667																																						uc001shh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(3343-3345)GGC>GGT		integrin alpha 7 isoform 1 precursor							45.0	44.0	45.0					12																	56078923		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078923G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3465C>T	12.37:g.56078923G>A						ITGA7_uc001shg.2_Silent_p.G1111G|ITGA7_uc010sps.1_Silent_p.G1018G|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Silent_p.G358G|ITGA7_uc009znx.2_Silent_p.G992G	p.G1115G	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			25	3565	-			1155			Cytoplasmic (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.3345C>T		.	.	.	.	.	.	.	.	.	.	G	9.042	0.989915	0.18966	.	.	ENSG00000135424	ENST00000557555	.	.	.	4.91	-0.845	0.10737	.	.	.	.	.	T	0.50171	0.1600	.	.	.	0.41431	D	0.98786	.	.	.	.	.	.	T	0.39781	-0.9597	4	.	.	.	.	5.3651	0.16109	0.3314:0.2627:0.4059:0.0	.	.	.	.	V	179	.	.	A	-	2	0	ITGA7	54365190	0.126000	0.22350	0.732000	0.30844	0.979000	0.70002	-0.057000	0.11768	-0.080000	0.12685	0.555000	0.69702	GCC		PASS	0.667	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		29	29	29	29	---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56817237	56817237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:56817237G>A	ENST00000553532.1	-	18	2263	c.2113C>T	c.(2113-2115)Cga>Tga	p.R705*	TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.R704*|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.R705*(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ACATAGGCTCGAACGACAGTT	0.507																																						uc001slf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(2)|pancreas(1)	8						c.(2113-2115)CGA>TGA		timeless homolog							112.0	99.0	103.0					12																	56817237		2203	4300	6503	SO:0001587	stop_gained	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817237G>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2113C>T	12.37:g.56817237G>A	ENSP00000450607:p.Arg705*						p.R705*	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			18	2281	-			705						Nonsense_Mutation	SNP	ENST00000553532.1	37	c.2113C>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	35	5.567620	0.96540	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	.	.	.	5.61	3.68	0.42216	.	0.065129	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6074	13.2088	0.59813	0.0:0.0:0.5857:0.4143	.	.	.	.	X	704;705	.	ENSP00000229201:R705X	R	-	1	2	TIMELESS	55103504	0.999000	0.42202	0.949000	0.38748	0.031000	0.12232	3.409000	0.52657	1.507000	0.48752	-0.310000	0.09108	CGA		PASS	0.507	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		50	101	50	101	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63544455	63544455	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:63544455C>A	ENST00000299178.2	-	1	267	c.162G>T	c.(160-162)gaG>gaT	p.E54D		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	54					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.E54D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCACGGCGATCTCCAGTTTGG	0.701																																						uc001sro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)GAG>GAT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						44.0	38.0	40.0					12																	63544455		2192	4270	6462	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544455C>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.162G>T	12.37:g.63544455C>A	ENSP00000299178:p.Glu54Asp						p.E54D	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2136	-			54			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.162G>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477484	0.84640	.	.	ENSG00000166148	ENST00000299178	T	0.37584	1.19	5.33	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.67741	-0.5592	9	.	.	.	-31.0068	13.1085	0.59261	0.0:0.9206:0.0:0.0794	.	54	P37288	V1AR_HUMAN	D	54	ENSP00000299178:E54D	.	E	-	3	2	AVPR1A	61830722	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.841000	0.62824	1.215000	0.43411	0.561000	0.74099	GAG		PASS	0.701	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			40	72	40	72	---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66641937	66641937	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:66641937T>C	ENST00000261233.4	+	12	2198	c.1777T>C	c.(1777-1779)Tac>Cac	p.Y593H	IRAK3_ENST00000457197.2_Missense_Mutation_p.Y532H	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.Y593H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ATATGAACAGTACAAAAAAGA	0.418																																						uc001sth.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(1777-1779)TAC>CAC		interleukin-1 receptor-associated kinase 3							45.0	49.0	48.0					12																	66641937		2123	4273	6396	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641937T>C	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1777T>C	12.37:g.66641937T>C	ENSP00000261233:p.Tyr593His					IRAK3_uc010ssy.1_Missense_Mutation_p.Y532H	p.Y593H	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	1879	+			593						Missense_Mutation	SNP	ENST00000261233.4	37	c.1777T>C	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	5.925	0.354717	0.11239	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.72835	-0.63;-0.69	5.4	-10.8	0.00216	.	2.011520	0.01990	N	0.045469	T	0.44973	0.1319	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27020	-1.0086	9	.	.	.	3.6103	1.1689	0.01821	0.3562:0.2498:0.0903:0.3037	.	532;593	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	H	593;532	ENSP00000261233:Y593H;ENSP00000409852:Y532H	.	Y	+	1	0	IRAK3	64928204	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.791000	0.04599	-1.865000	0.01147	-2.518000	0.00185	TAC		PASS	0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			34	82	34	82	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057113	72057113	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:72057113G>A	ENST00000378743.3	-	1	636	c.278C>T	c.(277-279)tCt>tTt	p.S93F	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S93F|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S93F|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	93	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S93F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCCGCTCAGACGCGTGCCG	0.642											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(277-279)TCT>TTT		proline/serine-rich coiled-coil 2							62.0	69.0	67.0					12																	72057113		1952	4135	6087	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057113G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.278C>T	12.37:g.72057113G>A	ENSP00000368017:p.Ser93Phe		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_uc010sts.1_Missense_Mutation_p.S93F|ZFC3H1_uc001swp.2_Missense_Mutation_p.S93F|THAP2_uc001swq.2_5'Flank	p.S93F	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			1	637	-			93			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.278C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366260	0.61513	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.34472	1.36	4.33	4.33	0.51752	.	0.417097	0.19575	N	0.111011	T	0.30572	0.0769	N	0.14661	0.345	0.80722	D	1	P;P;B	0.40794	0.729;0.729;0.38	P;B;B	0.45232	0.474;0.264;0.085	T	0.26258	-1.0108	10	0.62326	D	0.03	.	15.5344	0.75990	0.0:0.0:1.0:0.0	.	93;93;93	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	F	93	ENSP00000368017:S93F	ENSP00000368017:S93F	S	-	2	0	ZFC3H1	70343380	0.995000	0.38212	0.960000	0.40013	0.986000	0.74619	4.581000	0.60949	2.403000	0.81681	0.555000	0.69702	TCT		PASS	0.642	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		166	240	166	240	---	---	---	---
GLIPR1L1	256710	broad.mit.edu	37	12	75756926	75756926	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:75756926G>T	ENST00000378695.4	+	4	656	c.566G>T	c.(565-567)tGc>tTc	p.C189F	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.C189F			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	189					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)		p.C189F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						GGAGAATCTTGCTCTCTCTGC	0.308																																						uc001sxo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)TGC>TTC		GLI pathogenesis-related 1 like 1							50.0	50.0	50.0					12																	75756926		2202	4297	6499	SO:0001583	missense	256710					extracellular region		g.chr12:75756926G>T	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.566G>T	12.37:g.75756926G>T	ENSP00000367967:p.Cys189Phe					CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.C189F	p.C189F	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN			4	612	+			189					Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37	c.566G>T		.	.	.	.	.	.	.	.	.	.	G	14.30	2.492858	0.44352	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.17691	2.26;2.35	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	M	0.90814	3.15	0.43238	D	0.995143	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55010	-0.8207	10	0.87932	D	0	.	11.7495	0.51841	0.0:0.0:1.0:0.0	.	189;189	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	F	189	ENSP00000367967:C189F;ENSP00000310770:C189F	ENSP00000310770:C189F	C	+	2	0	GLIPR1L1	74043193	0.563000	0.26594	0.479000	0.27329	0.007000	0.05969	3.172000	0.50832	2.509000	0.84616	0.655000	0.94253	TGC		PASS	0.308	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		8	22	8	22	---	---	---	---
SYT1	6857	broad.mit.edu	37	12	79689885	79689885	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:79689885G>A	ENST00000261205.4	+	7	1168	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	SYT1_ENST00000552744.1_Missense_Mutation_p.A171T|SYT1_ENST00000457153.2_Missense_Mutation_p.A168T|SYT1_ENST00000393240.3_Missense_Mutation_p.A171T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	171	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.A171T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CGAACTGCCCGCCTTGGACAT	0.423																																						uc001sys.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(2)|ovary(1)	6						c.(511-513)GCC>ACC		synaptotagmin I							96.0	92.0	93.0					12																	79689885		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79689885G>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.511G>A	12.37:g.79689885G>A	ENSP00000261205:p.Ala171Thr					SYT1_uc001syt.2_Missense_Mutation_p.A171T|SYT1_uc001syu.2_Missense_Mutation_p.A168T|SYT1_uc001syv.2_Missense_Mutation_p.A171T	p.A171T	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			8	1182	+			171			Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.511G>A	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147662	0.77888	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;0.9;2.08	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.045242	0.85682	D	0.000000	T	0.66426	0.2788	L	0.61036	1.89	0.80722	D	1	P;P	0.50156	0.932;0.932	B;B	0.32805	0.153;0.153	T	0.75082	-0.3443	10	0.87932	D	0	.	19.8046	0.96525	0.0:0.0:1.0:0.0	.	171;171	Q6AI31;P21579	.;SYT1_HUMAN	T	171;171;168;171;168;171	ENSP00000376932:A171T;ENSP00000261205:A171T;ENSP00000391056:A168T;ENSP00000447575:A171T;ENSP00000448861:A168T;ENSP00000401559:A171T	ENSP00000261205:A171T	A	+	1	0	SYT1	78214016	1.000000	0.71417	0.991000	0.47740	0.955000	0.61496	7.903000	0.87398	2.754000	0.94517	0.650000	0.86243	GCC		PASS	0.423	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		48	153	48	153	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81647445	81647445	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:81647445A>T	ENST00000548058.1	+	15	2901	c.1991A>T	c.(1990-1992)tAc>tTc	p.Y664F	ACSS3_ENST00000548324.1_Missense_Mutation_p.Y346F|ACSS3_ENST00000261206.3_Missense_Mutation_p.Y663F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	664						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.Y664F(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						GGCAAGCCATACAAGGTAAAT	0.383																																						uc001szl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1990-1992)TAC>TTC		acyl-CoA synthetase short-chain family member 3							57.0	60.0	59.0					12																	81647445		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81647445A>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.1991A>T	12.37:g.81647445A>T	ENSP00000449535:p.Tyr664Phe					ACSS3_uc001szm.1_Missense_Mutation_p.Y663F|ACSS3_uc001szn.1_Missense_Mutation_p.Y346F	p.Y664F	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			15	2082	+			664					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1991A>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.498557	0.44455	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.51071	1.73;1.73;0.72	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	N	0.20328	0.56	0.80722	D	1	B;D	0.76494	0.008;0.999	B;D	0.83275	0.023;0.996	T	0.54390	-0.8301	10	0.33940	T	0.23	-12.9611	16.5724	0.84622	1.0:0.0:0.0:0.0	.	346;664	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	F	664;663;346	ENSP00000449535:Y664F;ENSP00000261206:Y663F;ENSP00000448965:Y346F	ENSP00000261206:Y663F	Y	+	2	0	ACSS3	80171576	1.000000	0.71417	0.989000	0.46669	0.524000	0.34500	8.923000	0.92808	2.313000	0.78055	0.455000	0.32223	TAC		PASS	0.383	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		34	105	34	105	---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85270346	85270346	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:85270346A>G	ENST00000266682.5	-	6	1338	c.797T>C	c.(796-798)aTt>aCt	p.I266T	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.I159T	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	266					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.I266T(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAGGAAGCAAATAAGTACCAC	0.303																																						uc001szv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(796-798)ATT>ACT		solute carrier family 6, member 15 isoform 1							82.0	83.0	83.0					12																	85270346		2203	4296	6499	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85270346A>G	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.797T>C	12.37:g.85270346A>G	ENSP00000266682:p.Ile266Thr					SLC6A15_uc010sul.1_Missense_Mutation_p.I159T	p.I266T	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			6	1290	-			266			Helical; Name=5; (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.797T>C	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.665631	0.00765	.	.	ENSG00000072041	ENST00000266682;ENST00000552192	T;T	0.76060	-0.99;-0.99	5.74	5.74	0.90152	.	0.381475	0.30791	N	0.008864	T	0.57301	0.2044	N	0.25094	0.71	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.53078	-0.8489	10	0.11794	T	0.64	.	10.3834	0.44125	0.927:0.0:0.073:0.0	.	266	Q9H2J7	S6A15_HUMAN	T	266;159	ENSP00000266682:I266T;ENSP00000450145:I159T	ENSP00000266682:I266T	I	-	2	0	SLC6A15	83794477	0.907000	0.30839	0.294000	0.24946	0.050000	0.14768	7.166000	0.77553	2.189000	0.69895	0.459000	0.35465	ATT		PASS	0.303	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		29	105	29	105	---	---	---	---
DRAM1	55332	broad.mit.edu	37	12	102315008	102315008	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:102315008G>T	ENST00000258534.8	+	7	1126	c.687G>T	c.(685-687)agG>agT	p.R229S	DRAM1_ENST00000544152.1_Missense_Mutation_p.R119S|RP11-512N21.3_ENST00000551918.1_RNA	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	229					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.R229S(1)|p.R123S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TCACCCTAAGGATATCCACAG	0.383																																						uc001tix.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(685-687)AGG>AGT		DNA-damage regulated autophagy modulator 1							125.0	117.0	119.0					12																	102315008		1852	4103	5955	SO:0001583	missense	55332				apoptosis|autophagy	integral to membrane|lysosomal membrane		g.chr12:102315008G>T	BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"""damage-regulated autophagy modulator"""	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.687G>T	12.37:g.102315008G>T	ENSP00000258534:p.Arg229Ser					DRAM1_uc010svv.1_Missense_Mutation_p.R119S	p.R229S	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN			7	1150	+			229					B7Z4T0|Q7L3E3|Q9NUN1	Missense_Mutation	SNP	ENST00000258534.8	37	c.687G>T	CCDS41823.1	.	.	.	.	.	.	.	.	.	.	G	1.087	-0.665314	0.03428	.	.	ENSG00000136048	ENST00000258534;ENST00000544152	.	.	.	4.58	1.8	0.24995	.	0.507294	0.21820	N	0.068628	T	0.23886	0.0578	N	0.22421	0.69	0.19300	N	0.999972	B;B	0.25007	0.116;0.038	B;B	0.24541	0.054;0.045	T	0.18493	-1.0335	9	0.19147	T	0.46	.	7.4876	0.27443	0.2747:0.0:0.7253:0.0	.	119;229	B7Z4T0;Q8N682	.;DRAM1_HUMAN	S	229;119	.	ENSP00000258534:R229S	R	+	3	2	DRAM1	100839139	1.000000	0.71417	0.438000	0.26821	0.001000	0.01503	1.812000	0.38952	0.203000	0.20529	-0.156000	0.13503	AGG		PASS	0.383	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370		33	76	33	76	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124350516	124350516	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:124350516G>T	ENST00000409039.3	+	40	6734	c.6709G>T	c.(6709-6711)Gcc>Tcc	p.A2237S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2237	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2237S(1)|p.A829S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTACAGTATGCCTCCCCTGC	0.358																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6709-6711)GCC>TCC		dynein, axonemal, heavy chain 10							172.0	156.0	161.0					12																	124350516		1847	4090	5937	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124350516G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6709G>T	12.37:g.124350516G>T	ENSP00000386770:p.Ala2237Ser						p.A2237S	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	40	6734	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2237			AAA 2 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.6709G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750456	0.89753	.	.	ENSG00000197653	ENST00000409039	D	0.96716	-4.1	5.97	5.09	0.68999	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	U	0.000001	D	0.99093	0.9688	H	0.99626	4.665	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.98621	1.0667	10	0.87932	D	0	.	15.2715	0.73705	0.0669:0.0:0.9331:0.0	.	2237	Q8IVF4	DYH10_HUMAN	S	2237	ENSP00000386770:A2237S	ENSP00000386770:A2237S	A	+	1	0	DNAH10	122916469	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	9.813000	0.99286	1.545000	0.49373	0.655000	0.94253	GCC		PASS	0.358	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			48	114	48	114	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124354931	124354931	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:124354931A>T	ENST00000409039.3	+	43	7209	c.7184A>T	c.(7183-7185)tAt>tTt	p.Y2395F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2395					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y987F(1)|p.Y2395F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCAACCTTGTATGACTTTCAT	0.393																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(7183-7185)TAT>TTT		dynein, axonemal, heavy chain 10							87.0	85.0	86.0					12																	124354931		1899	4119	6018	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124354931A>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7184A>T	12.37:g.124354931A>T	ENSP00000386770:p.Tyr2395Phe						p.Y2395F	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	43	7209	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2395					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.7184A>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381024	0.24944	.	.	ENSG00000197653	ENST00000409039	T	0.19938	2.11	5.21	2.85	0.33270	.	0.599517	0.12162	U	0.493915	T	0.18964	0.0455	L	0.50847	1.595	0.41948	D	0.990644	B	0.32283	0.362	B	0.38264	0.269	T	0.04551	-1.0943	10	0.06891	T	0.86	.	7.2128	0.25943	0.7993:0.0:0.0707:0.13	.	2395	Q8IVF4	DYH10_HUMAN	F	2395	ENSP00000386770:Y2395F	ENSP00000386770:Y2395F	Y	+	2	0	DNAH10	122920884	1.000000	0.71417	0.897000	0.35233	0.017000	0.09413	3.375000	0.52410	0.314000	0.23086	-0.250000	0.11733	TAT		PASS	0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			17	35	17	35	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126004172	126004172	+	Splice_Site	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:126004172G>C	ENST00000299308.3	+	4	1286		c.e4+1			NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B							integral component of membrane (GO:0016021)		p.?(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCTTGCCATGGTGAGGAATCT	0.478																																						uc001uhe.1																			1	Unknown(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.e4+1		transmembrane protein 132B							76.0	75.0	75.0					12																	126004172		1947	4133	6080	SO:0001630	splice_region_variant	114795					integral to membrane		g.chr12:126004172G>C	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1278+1G>C	12.37:g.126004172G>C							p.M426_splice	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	4	1286	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							A2RRG8|Q8NA73|Q96JN9|Q96PY1	Splice_Site	SNP	ENST00000299308.3	37	c.1278_splice	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.967663	0.74131	.	.	ENSG00000139364	ENST00000299308	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8352	0.92159	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM132B	124570125	1.000000	0.71417	0.990000	0.47175	0.807000	0.45602	7.157000	0.77461	2.437000	0.82529	0.621000	0.83404	.		PASS	0.478	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	Intron	54	128	54	128	---	---	---	---
SLC15A4	121260	broad.mit.edu	37	12	129299353	129299353	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr12:129299353G>A	ENST00000266771.5	-	2	848	c.809C>T	c.(808-810)tCc>tTc	p.S270F	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	270					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.S270F(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TCGCTTCTGGGAACAGCAGGA	0.473																																						uc001uhu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)TCC>TTC		solute carrier family 15, member 4							120.0	108.0	112.0					12																	129299353		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129299353G>A	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.809C>T	12.37:g.129299353G>A	ENSP00000266771:p.Ser270Phe					SLC15A4_uc001uhv.2_RNA|MGC16384_uc001uhw.2_5'Flank	p.S270F	NM_145648	NP_663623	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	2	862	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		270					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.809C>T	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074096	0.36566	.	.	ENSG00000139370	ENST00000266771	T	0.03951	3.75	5.67	5.67	0.87782	Major facilitator superfamily domain, general substrate transporter (1);	0.468547	0.25025	N	0.033731	T	0.09730	0.0239	L	0.55481	1.735	0.80722	D	1	B	0.22800	0.075	B	0.29524	0.103	T	0.06607	-1.0817	10	0.72032	D	0.01	.	18.7653	0.91869	0.0:0.0:1.0:0.0	.	270	Q8N697	S15A4_HUMAN	F	270	ENSP00000266771:S270F	ENSP00000266771:S270F	S	-	2	0	SLC15A4	127865306	1.000000	0.71417	0.174000	0.22961	0.324000	0.28378	4.661000	0.61518	2.666000	0.90696	0.650000	0.86243	TCC		PASS	0.473	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		51	93	51	93	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61987452	61987452	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr13:61987452C>T	ENST00000409186.1	-	5	2885	c.780G>A	c.(778-780)gtG>gtA	p.V260V	PCDH20_ENST00000409204.4_Silent_p.V260V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	260	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.V233V(1)|p.V260V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATTCTCCTCCACGTCCAGGG	0.527																																						uc001vid.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(778-780)GTG>GTA		protocadherin 20							104.0	89.0	94.0					13																	61987452		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987452C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.780G>A	13.37:g.61987452C>T						PCDH20_uc010thj.1_Silent_p.V260V	p.V260V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1144	-		Breast(118;0.195)|Prostate(109;0.229)	233			Cadherin 2.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.780G>A	CCDS9442.2																																																																																				PASS	0.527	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		40	115	40	115	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77748533	77748533	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr13:77748533C>G	ENST00000544440.2	-	37	5467	c.5450G>C	c.(5449-5451)gGt>gCt	p.G1817A	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1817A|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G1855A					MYC binding protein 2, E3 ubiquitin protein ligase									p.G1817A(2)|p.G1855A(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAATGTCACACCATCAGGGCA	0.463																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(5449-5451)GGT>GCT		MYC binding protein 2							247.0	208.0	221.0					13																	77748533		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77748533C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5450G>C	13.37:g.77748533C>G	ENSP00000444596:p.Gly1817Ala					MYCBP2_uc010aev.2_Missense_Mutation_p.G1221A	p.G1817A	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	38	5541	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1817						Missense_Mutation	SNP	ENST00000544440.2	37	c.5450G>C		.	.	.	.	.	.	.	.	.	.	C	23.2	4.390736	0.82902	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.56103	0.49;0.48;0.49	5.23	5.23	0.72850	PHR (1);	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	M	0.81497	2.545	0.58432	D	0.999996	P	0.36086	0.536	B	0.31946	0.138	T	0.61973	-0.6952	10	0.72032	D	0.01	.	12.5144	0.56024	0.0:0.923:0.0:0.077	.	1817	O75592	MYCB2_HUMAN	A	1817;1855;1817	ENSP00000349892:G1817A;ENSP00000384288:G1855A;ENSP00000444596:G1817A	ENSP00000349892:G1817A	G	-	2	0	MYCBP2	76646534	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	6.051000	0.71072	2.603000	0.88011	0.563000	0.77884	GGT		PASS	0.463	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		56	133	56	133	---	---	---	---
OR4K17	390436	broad.mit.edu	37	14	20585700	20585700	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:20585700G>T	ENST00000315543.4	+	1	135	c.135G>T	c.(133-135)ttG>ttT	p.L45F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L45F(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AATTCATTTTGCTGGGACTGA	0.423																																						uc001vwo.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(133-135)TTG>TTT		olfactory receptor, family 4, subfamily K,							229.0	212.0	218.0					14																	20585700		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585700G>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.135G>T	14.37:g.20585700G>T	ENSP00000319197:p.Leu45Phe						p.L45F	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	135	+	all_cancers(95;0.00108)		17			Extracellular (Potential).		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.135G>T	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	4.999	0.185483	0.09495	.	.	ENSG00000176230	ENST00000315543	T	0.00384	7.6	2.86	-1.33	0.09172	.	.	.	.	.	T	0.00178	0.0005	L	0.37630	1.12	0.09310	N	1	B	0.15719	0.014	B	0.18871	0.023	T	0.27905	-1.0060	9	0.10636	T	0.68	.	2.1391	0.03770	0.1126:0.1445:0.3761:0.3667	.	17	Q8NGC6	OR4KH_HUMAN	F	45	ENSP00000319197:L45F	ENSP00000319197:L45F	L	+	3	2	OR4K17	19655540	0.000000	0.05858	0.468000	0.27192	0.949000	0.60115	-2.810000	0.00755	-0.038000	0.13624	0.404000	0.27445	TTG		PASS	0.423	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			108	413	108	413	---	---	---	---
OR11H6	122748	broad.mit.edu	37	14	20692503	20692503	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:20692503C>A	ENST00000315519.2	+	1	713	c.635C>A	c.(634-636)tCc>tAc	p.S212Y		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S212Y(2)		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)		TCTGCTCCTTCCACTGAGCTT	0.498																																						uc010tlc.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(634-636)TCC>TAC		olfactory receptor, family 11, subfamily H,							123.0	113.0	116.0					14																	20692503		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692503C>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.635C>A	14.37:g.20692503C>A	ENSP00000319071:p.Ser212Tyr						p.S212Y	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	635	+	all_cancers(95;0.00108)		212			Extracellular (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.635C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	2.738	-0.262805	0.05754	.	.	ENSG00000176219	ENST00000315519	T	0.00130	8.69	5.0	-0.54	0.11861	GPCR, rhodopsin-like superfamily (1);	1.207870	0.06019	N	0.650988	T	0.00109	0.0003	N	0.21373	0.66	0.09310	N	1	B	0.24651	0.108	B	0.36335	0.222	T	0.15896	-1.0421	10	0.10111	T	0.7	.	0.604	0.00749	0.1727:0.2941:0.1695:0.3638	.	212	Q8NGC7	O11H6_HUMAN	Y	212	ENSP00000319071:S212Y	ENSP00000319071:S212Y	S	+	2	0	OR11H6	19762343	0.000000	0.05858	0.354000	0.25760	0.948000	0.59901	-2.430000	0.01024	0.007000	0.14760	0.471000	0.43371	TCC		PASS	0.498	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			32	73	32	73	---	---	---	---
METTL17	64745	broad.mit.edu	37	14	21458712	21458712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:21458712C>T	ENST00000339374.6	+	3	552	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000382985.4_Nonsense_Mutation_p.Q107*|METTL17_ENST00000556670.2_Nonsense_Mutation_p.Q107*	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	107					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)	p.Q107*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						AGAGGAGTTGCAAAGACGGGC	0.463											OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vyn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(319-321)CAA>TAA		methyltransferase 11 domain containing 1 isoform							59.0	65.0	63.0					14																	21458712		2203	4300	6503	SO:0001587	stop_gained	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21458712C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.319C>T	14.37:g.21458712C>T	ENSP00000343041:p.Gln107*		OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	748	METT11D1_uc010tlk.1_Nonsense_Mutation_p.Q107*|METT11D1_uc001vym.2_Nonsense_Mutation_p.Q107*|METT11D1_uc001vyo.2_Nonsense_Mutation_p.Q107*|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	p.Q107*	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	516	+	all_cancers(95;0.00267)		107					Q9BSH1|Q9BZH2|Q9BZH3	Nonsense_Mutation	SNP	ENST00000339374.6	37	c.319C>T	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	C	37	6.336097	0.97485	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000536700;ENST00000553564;ENST00000554751;ENST00000554283;ENST00000555670	.	.	.	6.07	6.07	0.98685	.	0.112809	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	16.1513	0.81624	0.0:1.0:0.0:0.0	.	.	.	.	X	107;107;145;25;25;145;25	.	ENSP00000343041:Q107X	Q	+	1	0	METTL17	20528552	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.805000	0.55575	2.882000	0.98803	0.655000	0.94253	CAA		PASS	0.463	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		31	128	31	128	---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31642569	31642569	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:31642569C>A	ENST00000399332.1	-	6	1437	c.949G>T	c.(949-951)Gtg>Ttg	p.V317L	HECTD1_ENST00000553700.1_Missense_Mutation_p.V317L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	317					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.V317L(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTATCAAGCACACATCTTTCA	0.413																																						uc001wrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(949-951)GTG>TTG		HECT domain containing 1							112.0	105.0	107.0					14																	31642569		1942	4145	6087	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31642569C>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.949G>T	14.37:g.31642569C>A	ENSP00000382269:p.Val317Leu						p.V317L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	6	1438	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		317					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.949G>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383861	0.82792	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.72505	0.9;0.9;-0.66	6.07	5.19	0.71726	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.64997	1.995	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.65117	-0.6246	10	0.41790	T	0.15	-5.6517	15.5921	0.76537	0.0:0.9341:0.0:0.0659	.	317	Q9ULT8	HECD1_HUMAN	L	317	ENSP00000450697:V317L;ENSP00000382269:V317L;ENSP00000452015:V317L	ENSP00000261312:V317L	V	-	1	0	HECTD1	30712320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.895000	0.69814	1.582000	0.49881	0.585000	0.79938	GTG		PASS	0.413	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			44	74	44	74	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42361074	42361074	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:42361074C>A	ENST00000298119.4	+	4	3196	c.2007C>A	c.(2005-2007)aaC>aaA	p.N669K	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	669						integral component of membrane (GO:0016021)		p.N669N(1)|p.N669K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAAACACTAACAGGAACAACT	0.458										HNSCC(30;0.082)																												uc001wvm.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(2005-2007)AAC>AAA		leucine rich repeat and fibronectin type III							101.0	84.0	90.0					14																	42361074		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42361074C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2007C>A	14.37:g.42361074C>A	ENSP00000298119:p.Asn669Lys	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.N669K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3205	+			669			Cytoplasmic (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.2007C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360714	0.61403	.	.	ENSG00000165379	ENST00000298119	T	0.51325	0.71	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000007	T	0.44953	0.1318	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.42699	-0.9436	10	0.32370	T	0.25	.	10.7033	0.45939	0.0:0.9138:0.0:0.0862	.	669	Q96NI6	LRFN5_HUMAN	K	669	ENSP00000298119:N669K	ENSP00000298119:N669K	N	+	3	2	LRFN5	41430824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.766000	0.38491	2.699000	0.92147	0.650000	0.86243	AAC		PASS	0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		23	22	23	22	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47530548	47530548	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:47530548T>C	ENST00000399232.2	-	7	1586	c.1222A>G	c.(1222-1224)Aaa>Gaa	p.K408E	MDGA2_ENST00000426342.1_Missense_Mutation_p.K179E|MDGA2_ENST00000357362.3_Missense_Mutation_p.K179E|MDGA2_ENST00000439988.3_Missense_Mutation_p.K477E	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	408	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K179E(2)|p.K477E(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCGTGAATTTTAAATCAATG	0.408																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1222-1224)AAA>GAA		MAM domain containing 1 isoform 1							156.0	142.0	147.0					14																	47530548		1884	4111	5995	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530548T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1222A>G	14.37:g.47530548T>C	ENSP00000382178:p.Lys408Glu					MDGA2_uc001wwi.3_Missense_Mutation_p.K179E|MDGA2_uc010ani.2_5'UTR	p.K408E	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			7	1418	-			408			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1222A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.00|17.00	3.276810|3.276810	0.59758|0.59758	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.53938|0.53938	U|U	0.000041|0.000041	T|T	0.59252|0.59252	0.2180|0.2180	L|L	0.39397|0.39397	1.21|1.21	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.69307|.	0.963|.	T|T	0.56111|0.56111	-0.8033|-0.8033	10|6	0.15952|.	T|.	0.53|.	.|.	14.6923|14.6923	0.69096|0.69096	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	408|.	Q7Z553|.	MDGA2_HUMAN|.	E|R	408;179;477;179|182	ENSP00000400011:K408E;ENSP00000405456:K179E;ENSP00000382178:K477E;ENSP00000349925:K179E|.	ENSP00000349925:K179E|.	K|K	-|-	1|2	0|0	MDGA2|MDGA2	46600298|46600298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.991000|7.991000	0.88244|0.88244	2.148000|2.148000	0.66965|0.66965	0.533000|0.533000	0.62120|0.62120	AAA|AAA		PASS	0.408	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		91	100	91	100	---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62462802	62462802	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:62462802C>T	ENST00000430451.2	+	1	262	c.65C>T	c.(64-66)tCt>tTt	p.S22F	SYT16_ENST00000446982.2_Missense_Mutation_p.S22F	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	22					exocytosis (GO:0006887)			p.S22F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCCTGGATATCTCGGGTTTAT	0.453																																						uc001xfu.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(64-66)TCT>TTT		synaptotagmin XIV-like							94.0	89.0	91.0					14																	62462802		1879	4113	5992	SO:0001583	missense	83851							g.chr14:62462802C>T	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.65C>T	14.37:g.62462802C>T	ENSP00000394700:p.Ser22Phe					SYT16_uc010tsd.1_Missense_Mutation_p.S22F	p.S22F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	1	262	+			22					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.65C>T	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147315	0.57151	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.52057	0.68;3.18	5.01	4.12	0.48240	.	0.146170	0.46758	D	0.000265	T	0.58807	0.2148	L	0.51422	1.61	0.31890	N	0.61729	D;P	0.62365	0.991;0.802	P;B	0.59221	0.854;0.313	T	0.69289	-0.5184	10	0.87932	D	0	-31.7436	15.346	0.74337	0.1406:0.8594:0.0:0.0	.	22;22	B4DZH2;Q17RD7	.;SYT16_HUMAN	F	22	ENSP00000388023:S22F;ENSP00000394700:S22F	ENSP00000394700:S22F	S	+	2	0	SYT16	61532555	0.963000	0.33076	1.000000	0.80357	0.993000	0.82548	1.710000	0.37920	1.471000	0.48121	0.555000	0.69702	TCT		PASS	0.453	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		31	68	31	68	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63447643	63447643	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:63447643G>A	ENST00000322893.7	-	6	1157	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	KCNH5_ENST00000420622.2_Silent_p.L297L|KCNH5_ENST00000394964.2_Silent_p.L239L|KCNH5_ENST00000394968.1_Silent_p.L239L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	297					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.L239L(1)|p.L297L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAGACAGCAGATCGATCACA	0.393																																						uc001xfx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(889-891)CTG>TTG		potassium voltage-gated channel, subfamily H,							68.0	60.0	63.0					14																	63447643		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447643G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.889C>T	14.37:g.63447643G>A						KCNH5_uc001xfy.2_Silent_p.L297L|KCNH5_uc001xfz.1_Silent_p.L239L|KCNH5_uc001xga.2_Silent_p.L239L	p.L297L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	940	-			297			Helical; Name=Segment S3; (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.889C>T	CCDS9756.1																																																																																				PASS	0.393	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		43	96	43	96	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824650	74824650	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:74824650G>A	ENST00000256362.4	+	2	1405	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	388					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.E388E(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGGAGCTGGAGTGCTCCGCAC	0.627																																						uc001xpw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1162-1164)GAG>GAA		hypothetical protein LOC55237							68.0	62.0	64.0					14																	74824650		2203	4300	6503	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824650G>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1164G>A	14.37:g.74824650G>A							p.E388E	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1355	+			388					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.1164G>A	CCDS9830.1																																																																																				PASS	0.627	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		34	66	34	66	---	---	---	---
SYNDIG1L	646658	broad.mit.edu	37	14	74874674	74874674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:74874674C>A	ENST00000554823.1	-	2	497	c.436G>T	c.(436-438)Gag>Tag	p.E146*	SYNDIG1L_ENST00000331628.3_Nonsense_Mutation_p.E146*			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	146					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E146*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTTTCACTCTCCGTTGAAGTG	0.547																																						uc001xpx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(436-438)GAG>TAG		transmembrane protein 90A							105.0	110.0	108.0					14																	74874674		2203	4300	6503	SO:0001587	stop_gained	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74874674C>A		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.436G>T	14.37:g.74874674C>A	ENSP00000450439:p.Glu146*						p.E146*	NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00159)	3	684	-			146						Nonsense_Mutation	SNP	ENST00000554823.1	37	c.436G>T	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080140	0.76528	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	.	.	.	5.13	5.13	0.70059	.	0.188329	0.44285	D	0.000470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.5319	18.7753	0.91908	0.0:1.0:0.0:0.0	.	.	.	.	X	146	.	ENSP00000331474:E146X	E	-	1	0	SYNDIG1L	73944427	1.000000	0.71417	0.956000	0.39512	0.129000	0.20672	7.651000	0.83577	2.655000	0.90218	0.655000	0.94253	GAG		PASS	0.547	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		18	51	18	51	---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81964351	81964351	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:81964351T>C	ENST00000336735.4	-	10	1129	c.1013A>G	c.(1012-1014)cAg>cGg	p.Q338R		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	338	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q338R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CCGTATTCTCTGTACTACTGA	0.403																																						uc010tvv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)CAG>CGG		sel-1 suppressor of lin-12-like precursor							82.0	73.0	76.0					14																	81964351		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81964351T>C		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1013A>G	14.37:g.81964351T>C	ENSP00000337053:p.Gln338Arg						p.Q338R	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	10	1130	-			338			Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1013A>G	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.829434	0.71258	.	.	ENSG00000071537	ENST00000336735	T	0.29142	1.58	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	L	0.55743	1.74	0.80722	D	1	P	0.38617	0.64	B	0.38985	0.287	T	0.09707	-1.0662	10	0.46703	T	0.11	.	15.8527	0.78947	0.0:0.0:0.0:1.0	.	338	Q9UBV2	SE1L1_HUMAN	R	338	ENSP00000337053:Q338R	ENSP00000337053:Q338R	Q	-	2	0	SEL1L	81034104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.525000	0.81892	2.330000	0.79161	0.477000	0.44152	CAG		PASS	0.403	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		28	70	28	70	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105409712	105409712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr14:105409712C>A	ENST00000333244.5	-	7	12195	c.12076G>T	c.(12076-12078)Gag>Tag	p.E4026*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4026						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E4026*(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGACCTCCAGGTCAGCG	0.657																																						uc010axc.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(12076-12078)GAG>TAG		AHNAK nucleoprotein 2							104.0	109.0	108.0					14																	105409712		1939	4127	6066	SO:0001587	stop_gained	113146					nucleus		g.chr14:105409712C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12076G>T	14.37:g.105409712C>A	ENSP00000353114:p.Glu4026*					AHNAK2_uc001ypx.2_Nonsense_Mutation_p.E3926*	p.E4026*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12196	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4026					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.12076G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	53	20.315597	0.99929	.	.	ENSG00000185567	ENST00000333244	.	.	.	3.57	1.62	0.23740	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	12.1718	0.54163	0.0:0.4964:0.5036:0.0	.	.	.	.	X	4026	.	ENSP00000353114:E4026X	E	-	1	0	AHNAK2	104480757	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	-2.156000	0.01283	0.185000	0.20105	0.306000	0.20318	GAG		PASS	0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		75	353	75	353	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34032192	34032192	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr15:34032192A>G	ENST00000389232.4	+	51	7886	c.7816A>G	c.(7816-7818)Atg>Gtg	p.M2606V	RYR3_ENST00000415757.3_Missense_Mutation_p.M2606V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2606	4 X approximate repeats.				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.M2606V(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)		TATTAACACCATGAAGTGAGT	0.433																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(7816-7818)ATG>GTG		ryanodine receptor 3							93.0	87.0	89.0					15																	34032192		1957	4152	6109	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34032192A>G		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.7816A>G	15.37:g.34032192A>G	ENSP00000373884:p.Met2606Val					RYR3_uc010bar.2_Missense_Mutation_p.M2606V	p.M2606V	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)	51	7886	+		all_lung(180;7.18e-09)	2606			3.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.7816A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	2.892	-0.229484	0.06022	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91011	-2.77;-2.77	5.55	-2.21	0.06973	Ryanodine receptor Ryr (1);	0.434865	0.25161	N	0.032671	T	0.72985	0.3529	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61257	-0.7099	10	0.18710	T	0.47	.	8.1378	0.31064	0.3767:0.0:0.4497:0.1736	.	2606;2606	Q15413-2;Q15413	.;RYR3_HUMAN	V	2606	ENSP00000373884:M2606V;ENSP00000399610:M2606V	ENSP00000354735:M2606V	M	+	1	0	RYR3	31819484	0.003000	0.15002	0.184000	0.23157	0.651000	0.38670	0.081000	0.14823	-0.573000	0.05998	-1.139000	0.01908	ATG		PASS	0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			19	63	19	63	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40633069	40633069	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr15:40633069G>A	ENST00000559313.1	-	1	99	c.84C>T	c.(82-84)ctC>ctT	p.L28L	C15orf52_ENST00000557973.1_5'UTR|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	28							poly(A) RNA binding (GO:0044822)	p.L28L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TGGGGAGCCAGAGTGGGAGGA	0.632																																						uc001zlh.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(82-84)CTC>CTT		hypothetical protein LOC388115							11.0	17.0	15.0					15																	40633069		1861	4105	5966	SO:0001819	synonymous_variant	388115							g.chr15:40633069G>A	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.84C>T	15.37:g.40633069G>A						C15orf52_uc001zli.1_5'Flank	p.L28L	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	1	100	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	28					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Silent	SNP	ENST00000559313.1	37	c.84C>T	CCDS10055.2																																																																																				PASS	0.632	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		6	16	6	16	---	---	---	---
TGM5	9333	broad.mit.edu	37	15	43533124	43533124	+	Silent	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr15:43533124A>G	ENST00000220420.5	-	7	934	c.927T>C	c.(925-927)gaT>gaC	p.D309D	TGM5_ENST00000349114.4_Silent_p.D227D	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	309					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D309D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCAGGTTTCCATCTGTATCGT	0.448																																						uc001zrd.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(925-927)GAT>GAC		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						221.0	195.0	204.0					15																	43533124		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43533124A>G	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.927T>C	15.37:g.43533124A>G						TGM5_uc001zrc.1_5'Flank|TGM5_uc001zre.1_Silent_p.D227D	p.D309D	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	7	935	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	309					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.927T>C	CCDS32212.1																																																																																				PASS	0.448	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		67	249	67	249	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48796075	48796075	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr15:48796075C>T	ENST00000316623.5	-	17	2477	c.2022G>A	c.(2020-2022)ttG>ttA	p.L674L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	674	TB 3.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L674L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGCACCAAACAAAGGTTTGA	0.483																																						uc001zwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2020-2022)TTG>TTA		fibrillin 1 precursor							175.0	148.0	157.0					15																	48796075		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48796075C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2022G>A	15.37:g.48796075C>T							p.L674L	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	17	2350	-		all_lung(180;0.00279)	674			TB 3.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.2022G>A	CCDS32232.1																																																																																				PASS	0.483	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			37	212	37	212	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60745837	60745837	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr15:60745837T>C	ENST00000261520.4	-	9	1324	c.1090A>G	c.(1090-1092)Atg>Gtg	p.M364V	NARG2_ENST00000439632.1_Missense_Mutation_p.M227V|NARG2_ENST00000561114.1_Missense_Mutation_p.M364V	NM_024611.4	NP_078887.2												p.M364V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GGTTTGTCCATAAAGACTGCA	0.328																																						uc002agp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1090-1092)ATG>GTG		NMDA receptor regulated 2 isoform a							85.0	85.0	85.0					15																	60745837		2203	4297	6500	SO:0001583	missense	79664					nucleus		g.chr15:60745837T>C																												ENST00000261520.4:c.1090A>G	15.37:g.60745837T>C	ENSP00000261520:p.Met364Val					NARG2_uc002ago.2_Missense_Mutation_p.M227V|NARG2_uc002agq.3_Missense_Mutation_p.M32V|NARG2_uc010bgk.2_Missense_Mutation_p.M364V|NARG2_uc002agr.1_Missense_Mutation_p.M364V	p.M364V	NM_024611	NP_078887	Q659A1	NARG2_HUMAN			9	1325	-			364						Missense_Mutation	SNP	ENST00000261520.4	37	c.1090A>G	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.322080	0.60634	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.53	5.53	0.82687	.	0.144589	0.64402	D	0.000006	T	0.58977	0.2160	L	0.51422	1.61	0.31318	N	0.686368	P;D;D	0.61697	0.75;0.99;0.982	P;P;D	0.67548	0.571;0.86;0.952	T	0.64761	-0.6331	9	0.51188	T	0.08	-14.8961	10.1709	0.42908	0.1483:0.0:0.0:0.8517	.	227;32;364	G3V0H6;B3KXT2;Q659A1	.;.;NARG2_HUMAN	V	364;227	.	ENSP00000261520:M364V	M	-	1	0	NARG2	58533129	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.540000	0.45727	2.103000	0.63969	0.477000	0.44152	ATG		PASS	0.328	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			35	156	35	156	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65499191	65499191	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr15:65499191C>A	ENST00000261883.4	-	4	519	c.353G>T	c.(352-354)tGg>tTg	p.W118L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	118					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.W118L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTTGAGGCACCAGAAACCCTC	0.647																																						uc002aon.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(352-354)TGG>TTG		cartilage intermediate layer protein							50.0	50.0	50.0					15																	65499191		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65499191C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.353G>T	15.37:g.65499191C>A	ENSP00000261883:p.Trp118Leu						p.W118L	NM_003613	NP_003604	O75339	CILP1_HUMAN			4	534	-			118					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.353G>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166200	0.94768	.	.	ENSG00000138615	ENST00000261883	T	0.15487	2.42	5.16	5.16	0.70880	.	0.057497	0.85682	D	0.000000	T	0.30293	0.0760	L	0.41710	1.295	0.80722	D	1	D	0.56968	0.978	P	0.60236	0.871	T	0.00619	-1.1641	10	0.54805	T	0.06	-7.6833	16.1922	0.82000	0.0:1.0:0.0:0.0	.	118	O75339	CILP1_HUMAN	L	118	ENSP00000261883:W118L	ENSP00000261883:W118L	W	-	2	0	CILP	63286244	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.542000	0.82095	2.676000	0.91093	0.561000	0.74099	TGG		PASS	0.647	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		43	177	43	177	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73545749	73545749	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr15:73545749G>T	ENST00000339362.5	+	13	2350	c.1903G>T	c.(1903-1905)Gct>Tct	p.A635S	NEO1_ENST00000560262.1_Missense_Mutation_p.A635S|NEO1_ENST00000261908.6_Missense_Mutation_p.A635S|RP11-272D12.2_ENST00000560337.1_RNA|NEO1_ENST00000558964.1_Missense_Mutation_p.A635S			Q92859	NEO1_HUMAN	neogenin 1	635					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A635S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGTTCCCAGTGCTGCTCCTCA	0.378																																						uc002avm.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1903-1905)GCT>TCT		neogenin homolog 1 precursor							76.0	75.0	75.0					15																	73545749		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73545749G>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1903G>T	15.37:g.73545749G>T	ENSP00000341198:p.Ala635Ser					NEO1_uc010ukx.1_Missense_Mutation_p.A635S|NEO1_uc010uky.1_Missense_Mutation_p.A635S|NEO1_uc010ukz.1_Missense_Mutation_p.A59S|NEO1_uc002avn.3_Missense_Mutation_p.A300S	p.A635S	NM_002499	NP_002490	Q92859	NEO1_HUMAN			12	2045	+			635			Extracellular (Potential).|Fibronectin type-III 3.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1903G>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	g	16.59	3.164717	0.57476	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.47528	0.84;0.84	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.048993	0.85682	D	0.000000	T	0.50257	0.1605	N	0.20685	0.6	0.80722	D	1	B;B;B;B	0.17038	0.001;0.003;0.0;0.02	B;B;B;B	0.43990	0.129;0.165;0.026;0.438	T	0.49312	-0.8953	10	0.33940	T	0.23	-19.7027	19.325	0.94258	0.0:0.0:1.0:0.0	.	635;635;373;635	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	S	635;373;635	ENSP00000341198:A635S;ENSP00000261908:A635S	ENSP00000261908:A635S	A	+	1	0	NEO1	71332802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.454000	0.73493	2.559000	0.86315	0.655000	0.94253	GCT		PASS	0.378	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		79	55	79	55	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89398283	89398283	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr15:89398283C>A	ENST00000561243.1	+	11	2467	c.2467C>A	c.(2467-2469)Cca>Aca	p.P823T	ACAN_ENST00000352105.7_Missense_Mutation_p.P823T|ACAN_ENST00000559004.1_Missense_Mutation_p.P823T|ACAN_ENST00000439576.2_Missense_Mutation_p.P823T			P16112	PGCA_HUMAN	aggrecan	822	12 X 6 AA approximate tandem repeats of E-[GVE]-P-[SFY]-[APT]-[TSP].|KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.P823T(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCAGAGGAGCCATTCCCCTC	0.622																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(2467-2469)CCA>ACA		aggrecan isoform 2 precursor							31.0	36.0	34.0					15																	89398283		1964	4156	6120	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398283C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2467C>A	15.37:g.89398283C>A	ENSP00000453342:p.Pro823Thr					ACAN_uc010upp.1_Missense_Mutation_p.P823T|ACAN_uc002bna.2_RNA	p.P823T	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	2841	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		823					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2467C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322337	0.23994	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03330	4.24;3.97	2.53	2.53	0.30540	.	.	.	.	.	T	0.03434	0.0099	L	0.48642	1.525	0.22017	N	0.999419	B;B	0.28082	0.2;0.2	B;B	0.22880	0.042;0.025	T	0.42666	-0.9438	9	0.13470	T	0.59	.	6.6256	0.22828	0.2841:0.7159:0.0:0.0	.	823;823	E7ENV9;E7EX88	.;.	T	823	ENSP00000387356:P823T;ENSP00000341615:P823T	ENSP00000268134:P823T	P	+	1	0	ACAN	87199287	0.002000	0.14202	0.005000	0.12908	0.075000	0.17131	-0.264000	0.08658	1.372000	0.46190	0.467000	0.42956	CCA		PASS	0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		8	34	8	34	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90333708	90333708	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr15:90333708C>T	ENST00000300060.6	-	20	3047	c.2734G>A	c.(2734-2736)Gag>Aag	p.E912K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	912	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.E912K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	AGCTCATACTCGGTGGAGAAT	0.582																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2734-2736)GAG>AAG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						166.0	128.0	141.0					15																	90333708		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90333708C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2734G>A	15.37:g.90333708C>T	ENSP00000300060:p.Glu912Lys						p.E912K	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		20	3026	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		912			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.2734G>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201766	0.79015	.	.	ENSG00000166825	ENST00000300060	T	0.05786	3.39	4.98	4.03	0.46877	.	0.112151	0.64402	D	0.000016	T	0.17492	0.0420	M	0.71036	2.16	0.45747	D	0.998647	D	0.54772	0.968	P	0.56700	0.804	T	0.01371	-1.1372	10	0.37606	T	0.19	.	13.1831	0.59666	0.0:0.8383:0.1617:0.0	.	912	P15144	AMPN_HUMAN	K	912	ENSP00000300060:E912K	ENSP00000300060:E912K	E	-	1	0	ANPEP	88134712	0.997000	0.39634	0.762000	0.31397	0.835000	0.47333	3.558000	0.53749	1.394000	0.46624	0.551000	0.68910	GAG		PASS	0.582	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			55	91	55	91	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	830137	830137	+	Silent	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:830137G>C	ENST00000442466.1	-	2	62	c.63C>G	c.(61-63)acC>acG	p.T21T	MSLNL_ENST00000293892.3_Silent_p.T288T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	21					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T288T(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ACAGCAGGAGGGTGAGGCCTG	0.692																																						uc002cjz.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)	4						c.(862-864)ACC>ACG		mesothelin-like							15.0	19.0	18.0					16																	830137		1974	4134	6108	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:830137G>C			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.63C>G	16.37:g.830137G>C							p.T288T	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			3	864	-			21						Silent	SNP	ENST00000442466.1	37	c.864C>G		.	.	.	.	.	.	.	.	.	.	G	8.548	0.874757	0.17395	.	.	ENSG00000162006	ENST00000543963	T	0.79352	-1.26	4.44	3.44	0.39384	.	.	.	.	.	T	0.79828	0.4513	.	.	.	0.52501	D	0.999957	.	.	.	.	.	.	T	0.79502	-0.1777	6	0.87932	D	0	-5.2534	6.0404	0.19730	0.1024:0.1955:0.702:0.0	.	.	.	.	A	43	ENSP00000441381:P43A	ENSP00000441381:P43A	P	-	1	0	MSLNL	770138	0.001000	0.12720	0.204000	0.23530	0.023000	0.10783	-0.554000	0.06006	1.174000	0.42811	0.563000	0.77884	CCT		PASS	0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		11	39	11	39	---	---	---	---
UNKL	64718	broad.mit.edu	37	16	1453235	1453235	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:1453235T>C	ENST00000389221.4	-	3	397	c.398A>G	c.(397-399)aAg>aGg	p.K133R	UNKL_ENST00000301712.5_Missense_Mutation_p.K133R|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000397462.1_Missense_Mutation_p.K220R|UNKL_ENST00000508903.2_Missense_Mutation_p.K133R	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	133					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K133R(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CAGCCCATTCTTCACGCAGTG	0.637																																						uc010bro.1																			2	Substitution - Missense(2)		lung(2)		0						c.(397-399)AAG>AGG		unkempt homolog (Drosophila)-like isoform 2							240.0	156.0	184.0					16																	1453235		2198	4300	6498	SO:0001583	missense	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1453235T>C	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.398A>G	16.37:g.1453235T>C	ENSP00000373873:p.Lys133Arg					UNKL_uc002clq.2_Missense_Mutation_p.K133R	p.K133R	NM_001037125	NP_001032202	Q9H9P5	UNKL_HUMAN			3	406	-		Hepatocellular(780;0.0893)	133			C3H1-type 2.		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	c.398A>G	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848156	0.91277	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	T	0.71461	-0.57	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	L	0.58354	1.805	0.80722	D	1	B	0.27286	0.174	B	0.35655	0.207	T	0.69285	-0.5185	10	0.49607	T	0.09	.	10.8202	0.46599	0.0:0.0:0.0:1.0	.	133	Q9H9P5-5	.	R	133;133;220;133	ENSP00000373873:K133R	ENSP00000301712:K133R	K	-	2	0	UNKL	1393236	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.825000	0.55730	1.718000	0.51419	0.374000	0.22700	AAG		PASS	0.637	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		22	46	22	46	---	---	---	---
CARHSP1	23589	broad.mit.edu	37	16	8953178	8953178	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:8953178G>C	ENST00000396593.2	-	2	367	c.8C>G	c.(7-9)tCt>tGt	p.S3C	RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567554.1_Missense_Mutation_p.S3C|CARHSP1_ENST00000567626.1_5'Flank|CARHSP1_ENST00000561530.1_Missense_Mutation_p.S3C|CARHSP1_ENST00000311052.5_Missense_Mutation_p.S3C|CARHSP1_ENST00000562843.1_Missense_Mutation_p.S3C	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	3					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)	p.S3C(1)		endometrium(2)|lung(1)	3						GGGAGGCTCAGATGACATGGC	0.642																																						uc002czh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)TCT>TGT		calcium-regulated heat-stable protein 1							17.0	16.0	16.0					16																	8953178		2193	4289	6482	SO:0001583	missense	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8953178G>C	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"""calcium regulated heat stable protein 1 (24kD)"""			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.8C>G	16.37:g.8953178G>C	ENSP00000379838:p.Ser3Cys					PMM2_uc002czg.1_Intron|CARHSP1_uc002czi.1_Missense_Mutation_p.S3C	p.S3C	NM_001042476	NP_001035941	Q9Y2V2	CHSP1_HUMAN			2	358	-			3					B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Missense_Mutation	SNP	ENST00000396593.2	37	c.8C>G	CCDS10537.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357933	0.61403	.	.	ENSG00000153048	ENST00000396593;ENST00000311052	.	.	.	5.19	5.19	0.71726	.	0.456228	0.23567	N	0.046788	T	0.69993	0.3173	M	0.81239	2.535	0.50313	D	0.99986	P	0.38300	0.626	B	0.41466	0.358	T	0.75833	-0.3178	9	0.87932	D	0	-0.6055	17.3019	0.87184	0.0:0.0:1.0:0.0	.	3	Q9Y2V2	CHSP1_HUMAN	C	3	.	ENSP00000311847:S3C	S	-	2	0	CARHSP1	8860679	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.782000	0.85680	2.420000	0.82092	0.563000	0.77884	TCT		PASS	0.642	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		9	28	9	28	---	---	---	---
USP7	7874	broad.mit.edu	37	16	8996248	8996248	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:8996248C>G	ENST00000344836.4	-	17	2129	c.1931G>C	c.(1930-1932)gGc>gCc	p.G644A	USP7_ENST00000535863.1_Missense_Mutation_p.G545A|USP7_ENST00000381886.4_Missense_Mutation_p.G628A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	644	Interaction with ICP0/VMW110.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G644A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGTTTTATTGCCGTCGGCTTC	0.423																																						uc002czl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1930-1932)GGC>GCC		ubiquitin specific peptidase 7							87.0	77.0	80.0					16																	8996248		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8996248C>G	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1931G>C	16.37:g.8996248C>G	ENSP00000343535:p.Gly644Ala					USP7_uc010uyk.1_Missense_Mutation_p.G545A|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.G545A|USP7_uc002czk.2_Missense_Mutation_p.G628A|USP7_uc010uyl.1_RNA	p.G644A	NM_003470	NP_003461	Q93009	UBP7_HUMAN			17	2130	-			644			Interaction with ICP0/VMW110.		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1931G>C	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372121	0.24857	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.05996	3.36;3.36	5.35	5.35	0.76521	.	0.087067	0.85682	D	0.000000	T	0.04679	0.0127	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41034	-0.9531	10	0.08837	T	0.75	.	19.0576	0.93072	0.0:1.0:0.0:0.0	.	644;628	Q93009;B7Z815	UBP7_HUMAN;.	A	644;652;545;545	ENSP00000343535:G644A;ENSP00000443646:G545A	ENSP00000343535:G644A	G	-	2	0	USP7	8903749	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.671000	0.68095	2.503000	0.84419	0.555000	0.69702	GGC		PASS	0.423	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			35	38	35	38	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16108449	16108449	+	Silent	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:16108449C>T	ENST00000399410.3	+	4	628	c.453C>T	c.(451-453)gcC>gcT	p.A151A	ABCC1_ENST00000345148.5_Silent_p.A151A|ABCC1_ENST00000349029.5_Silent_p.A151A|ABCC1_ENST00000346370.5_Silent_p.A151A|ABCC1_ENST00000351154.5_Silent_p.A151A|ABCC1_ENST00000399408.2_Silent_p.A151A	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	151					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A151A(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GTGCCCTAGCCATCCTGAGAT	0.507																																						uc010bvi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(451-453)GCC>GCT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						126.0	123.0	124.0					16																	16108449		2006	4172	6178	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16108449C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.453C>T	16.37:g.16108449C>T						ABCC1_uc010bvj.2_Silent_p.A151A|ABCC1_uc010bvk.2_Silent_p.A151A|ABCC1_uc010bvl.2_Silent_p.A151A|ABCC1_uc010bvm.2_Silent_p.A151A|ABCC1_uc002del.3_Silent_p.A35A|ABCC1_uc010bvn.2_Silent_p.A14A	p.A151A	NM_004996	NP_004987	P33527	MRP1_HUMAN			4	628	+			151			Helical; Name=4.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.453C>T	CCDS42122.1																																																																																				PASS	0.507	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		63	181	63	181	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20990716	20990716	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:20990716T>A	ENST00000261383.3	-	50	8011	c.8012A>T	c.(8011-8013)gAg>gTg	p.E2671V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2671	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E2671V(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATAGCCACCTCTTGCCTCTT	0.468																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(8011-8013)GAG>GTG		dynein, axonemal, heavy chain 3							140.0	129.0	132.0					16																	20990716		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20990716T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8012A>T	16.37:g.20990716T>A	ENSP00000261383:p.Glu2671Val					DNAH3_uc010vbd.1_Missense_Mutation_p.E106V	p.E2671V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	50	8012	-			2671			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.8012A>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890335	0.72524	.	.	ENSG00000158486	ENST00000261383	T	0.28666	1.6	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79087	-0.1947	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	2671	Q8TD57	DYH3_HUMAN	V	2671	ENSP00000261383:E2671V	ENSP00000261383:E2671V	E	-	2	0	DNAH3	20898217	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.172000	0.58243	2.323000	0.78572	0.528000	0.53228	GAG		PASS	0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		48	148	48	148	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24902294	24902294	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:24902294G>T	ENST00000347898.3	+	9	1391	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	SLC5A11_ENST00000424767.2_Missense_Mutation_p.A222S|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A222S|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A193S|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A187S|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A187S|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A193S	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.A257S(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)		CCGGGAAGATGCCTTCCATAT	0.582																																						uc002dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(769-771)GCC>TCC		solute carrier family 5 (sodium/glucose							126.0	127.0	126.0					16																	24902294		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.chr16:24902294G>T	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	ENST00000347898.3:c.769G>T	16.37:g.24902294G>T	ENSP00000289932:p.Ala257Ser					SLC5A11_uc002dms.2_Missense_Mutation_p.A193S|SLC5A11_uc010vcd.1_Missense_Mutation_p.A222S|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.A187S|SLC5A11_uc010bxt.2_Missense_Mutation_p.A193S	p.A257S	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	9	1001	+			257			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.769G>T	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818250	0.50633	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.71	5.71	0.89125	.	0.049048	0.85682	D	0.000000	D	0.84247	0.5430	N	0.25957	0.775	0.80722	D	1	P;P;P	0.51449	0.826;0.832;0.945	P;B;P	0.51582	0.462;0.426;0.674	T	0.80058	-0.1541	10	0.09084	T	0.74	.	17.3547	0.87332	0.0:0.0:1.0:0.0	.	187;222;257	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	S	257;222;187;193	ENSP00000289932:A257S;ENSP00000416782:A222S;ENSP00000441384:A187S;ENSP00000441018:A193S	ENSP00000289932:A257S	A	+	1	0	SLC5A11	24809795	1.000000	0.71417	0.967000	0.41034	0.933000	0.57130	5.297000	0.65704	2.700000	0.92200	0.650000	0.86243	GCC		PASS	0.582	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		98	329	98	329	---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27751548	27751548	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:27751548C>T	ENST00000261588.4	+	15	1949	c.1930C>T	c.(1930-1932)Cat>Tat	p.H644Y		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	644						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H644Y(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CAAAGGCACCCATGAGATGGC	0.552																																						uc002dow.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1930-1932)CAT>TAT		hypothetical protein LOC23247							67.0	65.0	65.0					16																	27751548		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27751548C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1930C>T	16.37:g.27751548C>T	ENSP00000261588:p.His644Tyr						p.H644Y	NM_015202	NP_056017	O60303	K0556_HUMAN			15	1954	+			644					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1930C>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	5.539	0.284303	0.10513	.	.	ENSG00000047578	ENST00000261588	T	0.10005	2.92	5.39	-0.518	0.11943	.	0.723822	0.13424	N	0.388920	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	P	0.38420	0.63	B	0.31686	0.134	T	0.24512	-1.0158	10	0.02654	T	1	-4.3797	0.6079	0.00756	0.2176:0.3002:0.1289:0.3532	.	644	O60303	K0556_HUMAN	Y	644	ENSP00000261588:H644Y	ENSP00000261588:H644Y	H	+	1	0	KIAA0556	27659049	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.049000	0.14099	0.269000	0.21961	0.655000	0.94253	CAT		PASS	0.552	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		45	115	45	115	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175787	51175787	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:51175787G>C	ENST00000251020.4	-	2	379	c.346C>G	c.(346-348)Cac>Gac	p.H116D	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.H19D|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	116					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H116D(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTCCGTTGTGTTCTGAAAGG	0.552																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(346-348)CAC>GAC		sal-like 1 isoform a							110.0	113.0	112.0					16																	51175787		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175787G>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.346C>G	16.37:g.51175787G>C	ENSP00000251020:p.His116Asp					SALL1_uc010vgr.1_Missense_Mutation_p.H19D|SALL1_uc010cbv.2_Intron	p.H116D	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	377	-		all_cancers(37;0.0322)	116					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.346C>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	4.232	0.042010	0.08196	.	.	ENSG00000103449	ENST00000251020;ENST00000440970	T;T	0.05717	3.4;3.41	5.21	4.24	0.50183	.	0.472547	0.27176	N	0.020576	T	0.05318	0.0141	N	0.22421	0.69	0.27130	N	0.96192	B	0.13145	0.007	B	0.12837	0.008	T	0.32719	-0.9896	10	0.12766	T	0.61	.	15.7681	0.78143	0.0:0.1368:0.8632:0.0	.	116	Q9NSC2	SALL1_HUMAN	D	116;19	ENSP00000251020:H116D;ENSP00000407914:H19D	ENSP00000251020:H116D	H	-	1	0	SALL1	49733288	1.000000	0.71417	0.700000	0.30305	0.886000	0.51366	5.610000	0.67668	1.161000	0.42604	0.555000	0.69702	CAC		PASS	0.552	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		57	139	57	139	---	---	---	---
BBS2	583	broad.mit.edu	37	16	56535283	56535283	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:56535283G>A	ENST00000245157.5	-	10	1627	c.1207C>T	c.(1207-1209)Cgc>Tgc	p.R403C	BBS2_ENST00000561951.1_5'Flank|BBS2_ENST00000568104.1_Missense_Mutation_p.R403C	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	403					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R403C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GTGGAAATGCGTAATTCTGTA	0.478									Bardet-Biedl syndrome																													uc002ejd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1207-1209)CGC>TGC		Bardet-Biedl syndrome 2 protein							245.0	227.0	234.0					16																	56535283		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56535283G>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1207C>T	16.37:g.56535283G>A	ENSP00000245157:p.Arg403Cys					BBS2_uc010ccg.2_3'UTR	p.R403C	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			10	1441	-			403					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1207C>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	G	3.981	-0.006506	0.07773	.	.	ENSG00000125124	ENST00000245157	D	0.90955	-2.76	5.02	-3.78	0.04333	.	0.433900	0.27759	N	0.017969	T	0.73791	0.3632	N	0.12471	0.22	0.27560	N	0.950221	B	0.02656	0.0	B	0.01281	0.0	T	0.60078	-0.7333	10	0.37606	T	0.19	0.1208	2.7427	0.05258	0.3672:0.2028:0.3304:0.0995	.	403	Q9BXC9	BBS2_HUMAN	C	403	ENSP00000245157:R403C	ENSP00000245157:R403C	R	-	1	0	BBS2	55092784	0.952000	0.32445	0.179000	0.23059	0.022000	0.10575	0.569000	0.23638	-0.671000	0.05274	-0.295000	0.09555	CGC		PASS	0.478	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		85	298	85	298	---	---	---	---
HERPUD1	9709	broad.mit.edu	37	16	56977077	56977077	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:56977077C>T	ENST00000439977.2	+	8	1248	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Missense_Mutation_p.P192S|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000379792.2_Missense_Mutation_p.P326S|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.P350S	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	351					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P351S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CAACCACCTCCCTCCAGACAG	0.463			T	ERG	prostate																																	uc002eke.1				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)CCT>TCT		homocysteine-inducible, endoplasmic reticulum							253.0	236.0	242.0					16																	56977077		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56977077C>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.1051C>T	16.37:g.56977077C>T	ENSP00000409555:p.Pro351Ser					HERPUD1_uc002ekf.1_Missense_Mutation_p.P350S|HERPUD1_uc002ekg.1_Missense_Mutation_p.P326S|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.P253S|HERPUD1_uc002ekh.1_Missense_Mutation_p.P169S	p.P351S	NM_014685	NP_055500	Q15011	HERP1_HUMAN			8	1460	+			351			Cytoplasmic (Potential).		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.1051C>T	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912931	0.52439	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T;T	0.41758	1.5;1.98;0.99	5.57	4.6	0.57074	.	0.235442	0.43747	D	0.000539	T	0.45895	0.1365	M	0.64997	1.995	0.19775	N	0.999951	P;B;P;P	0.45827	0.86;0.168;0.867;0.791	P;B;B;B	0.47075	0.536;0.028;0.382;0.212	T	0.43343	-0.9397	10	0.10377	T	0.69	-4.7739	15.7775	0.78236	0.0:0.8635:0.1365:0.0	.	192;326;350;351	Q15011-3;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	S	350;326;351;192	ENSP00000369118:P326S;ENSP00000300302:P351S;ENSP00000340931:P192S	ENSP00000300302:P351S	P	+	1	0	HERPUD1	55534578	0.037000	0.19845	0.614000	0.29051	0.949000	0.60115	1.633000	0.37113	1.452000	0.47756	0.655000	0.94253	CCT		PASS	0.463	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			168	398	168	398	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61687685	61687685	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:61687685A>G	ENST00000577390.1	-	12	3181	c.2227T>C	c.(2227-2229)Tcc>Ccc	p.S743P	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	743					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.S743P(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATCTGAATGGAGTCATATGGC	0.498																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(2227-2229)TCC>CCC		cadherin 8, type 2 preproprotein							61.0	66.0	65.0					16																	61687685		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687685A>G	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2227T>C	16.37:g.61687685A>G	ENSP00000462701:p.Ser743Pro						p.S743P	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2479	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	743			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2227T>C	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473110	0.63737	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.84410	0.5466	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87516	0.2443	9	0.87932	D	0	.	15.1545	0.72730	1.0:0.0:0.0:0.0	.	743	P55286	CADH8_HUMAN	P	743	.	ENSP00000299345:S743P	S	-	1	0	CDH8	60245186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.164000	0.68074	0.533000	0.62120	TCC		PASS	0.498	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		25	68	25	68	---	---	---	---
DNAAF1	123872	broad.mit.edu	37	16	84199402	84199402	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr16:84199402G>T	ENST00000378553.5	+	7	1001	c.877G>T	c.(877-879)Gcc>Tcc	p.A293S	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.A293S	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	293	LRRCT.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.A293S(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTGTGCGGAGGCCTGGGCTAG	0.478																																						uc002fhl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(877-879)GCC>TCC		leucine rich repeat containing 50							117.0	124.0	121.0					16																	84199402		2200	4300	6500	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84199402G>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.877G>T	16.37:g.84199402G>T	ENSP00000367815:p.Ala293Ser					LRRC50_uc010vnw.1_Missense_Mutation_p.A41S	p.A293S	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			7	1058	+			293			LRRCT.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.877G>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	31	5.061033	0.93846	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.22743	1.94;1.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	H	0.95187	3.635	0.58432	D	0.999998	D;D	0.63880	0.991;0.993	D;D	0.72075	0.976;0.946	T	0.73792	-0.3871	10	0.87932	D	0	-17.2806	19.113	0.93326	0.0:0.0:1.0:0.0	.	41;293	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	S	293	ENSP00000334593:A293S;ENSP00000367815:A293S	ENSP00000334593:A293S	A	+	1	0	DNAAF1	82756903	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.819000	0.86621	2.615000	0.88500	0.650000	0.86243	GCC		PASS	0.478	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		43	172	43	172	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578467	7578467	+	Missense_Mutation	SNP	T	T	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr17:7578467T>G	ENST00000269305.4	-	5	652	c.463A>C	c.(463-465)Acc>Ccc	p.T155P	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.T155P|TP53_ENST00000445888.2_Missense_Mutation_p.T155P|TP53_ENST00000413465.2_Missense_Mutation_p.T155P|TP53_ENST00000455263.2_Missense_Mutation_p.T155P|TP53_ENST00000420246.2_Missense_Mutation_p.T155P	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	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T155P(17)|p.T155A(10)|p.0?(8)|p.?(5)|p.P152fs*14(5)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.T155S(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)	CGGACGCGGGTGCCGGGCGGG	0.612		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		67	Substitution - Missense(32)|Deletion - Frameshift(16)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)	lung(18)|ovary(9)|oesophagus(7)|skin(6)|bone(5)|stomach(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|breast(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|urinary_tract(1)|liver(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(463-465)ACC>CCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578467		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.chr17:7578467T>G	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.463A>C	17.37:g.7578467T>G	ENSP00000269305:p.Thr155Pro	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.T155P|TP53_uc002gih.2_Missense_Mutation_p.T155P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23P|TP53_uc010cng.1_Missense_Mutation_p.T23P|TP53_uc002gii.1_Missense_Mutation_p.T23P|TP53_uc010cnh.1_Missense_Mutation_p.T155P|TP53_uc010cni.1_Missense_Mutation_p.T155P|TP53_uc002gij.2_Missense_Mutation_p.T155P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62P|TP53_uc002gio.2_Missense_Mutation_p.T23P|TP53_uc010vug.1_Missense_Mutation_p.T116P	p.T155P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	657	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|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.463A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941154	0.34283	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.59	0.31	0.15825	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99483	0.9816	M	0.76328	2.33	0.09310	N	1	D;P;B;D;P;P;D	0.63046	0.989;0.736;0.19;0.976;0.662;0.881;0.992	D;P;B;D;P;P;D	0.67900	0.954;0.743;0.256;0.928;0.833;0.874;0.937	D	0.98829	1.0750	10	0.72032	D	0.01	-6.4954	2.9983	0.06005	0.3258:0.3217:0.0:0.3525	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155P;ENSP00000352610:T155P;ENSP00000269305:T155P;ENSP00000398846:T155P;ENSP00000391127:T155P;ENSP00000391478:T155P;ENSP00000425104:T23P;ENSP00000423862:T62P;ENSP00000424104:T155P	ENSP00000269305:T155P	T	-	1	0	TP53	7519192	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.301000	0.08232	0.124000	0.18369	0.533000	0.62120	ACC		PASS	0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		77	37	77	37	---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8167621	8167621	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr17:8167621A>T	ENST00000314666.6	+	16	2016	c.1883A>T	c.(1882-1884)gAg>gTg	p.E628V	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.E204V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	628					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.E628V(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GTGGACCTGGAGCTCGAATGG	0.597																																						uc002gkr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(1882-1884)GAG>GTG		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						47.0	51.0	50.0					17																	8167621		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8167621A>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1883A>T	17.37:g.8167621A>T	ENSP00000313490:p.Glu628Val					PFAS_uc010vuv.1_Missense_Mutation_p.E204V|PFAS_uc010cnw.1_Missense_Mutation_p.E128V|PFAS_uc002gks.2_5'Flank	p.E628V	NM_012393	NP_036525	O15067	PUR4_HUMAN			16	2024	+			628					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1883A>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.844722	0.51164	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.31769	1.48;1.48	5.75	5.75	0.90469	AIR synthase-related protein, C-terminal (1);	0.187412	0.45867	D	0.000335	T	0.40171	0.1106	M	0.78049	2.395	0.43385	D	0.995494	B;P	0.36354	0.145;0.549	B;B	0.38106	0.189;0.265	T	0.42515	-0.9447	10	0.87932	D	0	-13.2485	14.0192	0.64543	1.0:0.0:0.0:0.0	.	204;628	F5GWT9;O15067	.;PUR4_HUMAN	V	204;628;37	ENSP00000441706:E204V;ENSP00000313490:E628V	ENSP00000313490:E628V	E	+	2	0	PFAS	8108346	1.000000	0.71417	0.994000	0.49952	0.078000	0.17371	5.874000	0.69652	2.192000	0.70111	0.460000	0.39030	GAG		PASS	0.597	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			21	85	21	85	---	---	---	---
SREBF1	6720	broad.mit.edu	37	17	17718184	17718184	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr17:17718184C>T	ENST00000261646.5	-	14	2751	c.2567G>A	c.(2566-2568)aGc>aAc	p.S856N	MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000395757.1_Missense_Mutation_p.S602N|SREBF1_ENST00000338854.5_Missense_Mutation_p.S856N|SREBF1_ENST00000355815.4_Missense_Mutation_p.S886N	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	856					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)	p.S886N(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GATGGAGAAGCTGTAGGCAGG	0.632																																						uc002gru.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2566-2568)AGC>AAC		sterol regulatory element binding transcription							27.0	24.0	25.0					17																	17718184		2187	4295	6482	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17718184C>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2567G>A	17.37:g.17718184C>T	ENSP00000261646:p.Ser856Asn					SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.S475N|SREBF1_uc002grq.1_Missense_Mutation_p.S375N|SREBF1_uc002grr.1_Missense_Mutation_p.S602N|SREBF1_uc002grs.1_Missense_Mutation_p.S832N|SREBF1_uc002grt.1_Missense_Mutation_p.S886N|MIR33B_hsa-mir-33b|MI0003646_5'Flank	p.S856N	NM_004176	NP_004167	P36956	SRBP1_HUMAN			14	2761	-			856			Cytoplasmic (Potential).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2567G>A	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	c	10.50	1.366696	0.24771	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161;ENST00000447641	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.18	1.87	0.25490	.	0.261461	0.40064	N	0.001198	T	0.10809	0.0264	M	0.66939	2.045	0.80722	D	1	B;B;B	0.16166	0.009;0.016;0.016	B;B;B	0.17722	0.007;0.015;0.019	T	0.08006	-1.0743	10	0.18710	T	0.47	-18.1727	7.8415	0.29402	0.0:0.5442:0.2858:0.17	.	856;886;475	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	N	856;886;856;602;475;693;782;181	ENSP00000345822:S856N;ENSP00000348069:S886N;ENSP00000261646:S856N;ENSP00000379106:S602N	ENSP00000261646:S856N	S	-	2	0	SREBF1	17658909	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	2.531000	0.45650	1.176000	0.42840	0.556000	0.70494	AGC		PASS	0.632	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		12	3	12	3	---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42328845	42328845	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr17:42328845C>G	ENST00000262418.6	-	18	2578	c.2423G>C	c.(2422-2424)cGc>cCc	p.R808P	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>CCC		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>G		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>C	17.37:g.42328845C>G	ENSP00000262418:p.Arg808Pro						p.R808P	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>C	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921608	0.92319	.	.	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	P	808	ENSP00000262418:R808P	ENSP00000262418:R808P	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		116	53	116	53	---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62493071	62493071	+	Missense_Mutation	SNP	C	C	A	rs373387408		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr17:62493071C>A	ENST00000539111.2	-	1	83	c.16G>T	c.(16-18)Gcc>Tcc	p.A6S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	6					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.A6S(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCCCTGACGGCTACACGAGAG	0.577																																					Colon(3;18 21 435 17652 48887)	uc002jei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(16-18)GCC>TCC		DNA polymerase subunit gamma-2, mitochondrial		C	SER/ALA	0,4406		0,0,2203	50.0	48.0	49.0		16	0.8	0.0	17		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	POLG2	NM_007215.3	99	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	6/486	62493071	1,13005	2203	4300	6503	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62493071C>A	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.16G>T	17.37:g.62493071C>A	ENSP00000442563:p.Ala6Ser					POLG2_uc010deg.1_Missense_Mutation_p.A6S	p.A6S	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	99	-	Breast(5;2.15e-14)		6					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.16G>T	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176268	0.38413	0.0	1.16E-4	ENSG00000256525	ENST00000539111	D	0.87491	-2.26	4.15	0.815	0.18763	.	0.971859	0.08434	N	0.946516	T	0.80325	0.4602	L	0.40543	1.245	0.09310	N	1	B;B	0.26935	0.164;0.164	B;B	0.25405	0.06;0.06	T	0.68239	-0.5461	10	0.72032	D	0.01	0.1047	5.2949	0.15747	0.0:0.6394:0.1645:0.1962	.	6;6	E5KS15;Q9UHN1	.;DPOG2_HUMAN	S	6	ENSP00000442563:A6S	ENSP00000442563:A6S	A	-	1	0	POLG2	59923533	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.286000	0.18902	0.108000	0.17862	-0.305000	0.09177	GCC		PASS	0.577	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		27	139	27	139	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67190576	67190576	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr17:67190576C>G	ENST00000269081.4	-	13	2204	c.1295G>C	c.(1294-1296)gGt>gCt	p.G432A	ABCA10_ENST00000416101.2_Missense_Mutation_p.G432A	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	432	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G432A(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGTTGATTTACCAGCTCCATT	0.323																																						uc010dfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1294-1296)GGT>GCT		ATP-binding cassette, sub-family A, member 10							151.0	141.0	144.0					17																	67190576		2203	4298	6501	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67190576C>G	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1295G>C	17.37:g.67190576C>G	ENSP00000269081:p.Gly432Ala					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.G33A	p.G432A	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			13	2174	-	Breast(10;6.95e-12)		432			ATP 1 (Potential).|ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1295G>C	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193314	0.78902	.	.	ENSG00000154263	ENST00000269081;ENST00000416101	D;D	0.99875	-7.26;-7.4	3.8	3.8	0.43715	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.32386	U	0.006173	D	0.99921	0.9963	H	0.99225	4.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.95714	0.8760	10	0.87932	D	0	.	15.8508	0.78930	0.0:1.0:0.0:0.0	.	432;432	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	A	432	ENSP00000269081:G432A;ENSP00000407772:G432A	ENSP00000269081:G432A	G	-	2	0	ABCA10	64702171	1.000000	0.71417	0.345000	0.25642	0.997000	0.91878	6.850000	0.75420	1.956000	0.56807	0.557000	0.71058	GGT		PASS	0.323	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		48	284	48	284	---	---	---	---
GPR142	350383	broad.mit.edu	37	17	72368390	72368390	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr17:72368390G>T	ENST00000335666.4	+	4	1088	c.1040G>T	c.(1039-1041)gGg>gTg	p.G347V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	347						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G347V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCCGGAGTGGGCTGCAGCCC	0.627																																						uc010wqy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1039-1041)GGG>GTG		G protein-coupled receptor 142							95.0	77.0	83.0					17																	72368390		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368390G>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1040G>T	17.37:g.72368390G>T	ENSP00000335158:p.Gly347Val					GPR142_uc010wqx.1_Missense_Mutation_p.G259V	p.G347V	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	1040	+			347			Cytoplasmic (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.1040G>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	7.867	0.727251	0.15439	.	.	ENSG00000257008	ENST00000335666	T	0.43688	0.94	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.198049	0.45361	D	0.000364	T	0.46386	0.1390	L	0.54323	1.7	0.80722	D	1	P;P	0.38729	0.476;0.644	B;P	0.46510	0.223;0.519	T	0.46261	-0.9204	10	0.51188	T	0.08	-14.5481	12.0342	0.53415	0.0:0.0:0.8269:0.1731	.	347;1309	Q7Z601;Q8NGB0	GP142_HUMAN;.	V	347	ENSP00000335158:G347V	ENSP00000335158:G347V	G	+	2	0	GPR142	69879985	0.140000	0.22579	0.550000	0.28217	0.102000	0.19082	0.859000	0.27858	2.489000	0.83994	0.505000	0.49811	GGG		PASS	0.627	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		103	34	103	34	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	334900	334900	+	Missense_Mutation	SNP	A	A	G	rs531789462		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr18:334900A>G	ENST00000400256.3	-	6	1865	c.1658T>C	c.(1657-1659)gTt>gCt	p.V553A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	553	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.V553A(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGGCTCCCCAACGGTGCCCTG	0.736													A|||	1	0.000199681	0.0008	0.0	5008	,	,		13836	0.0		0.0	False		,,,				2504	0.0					uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1657-1659)GTT>GCT		collectin sub-family member 12							9.0	12.0	11.0					18																	334900		2169	4234	6403	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:334900A>G	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1658T>C	18.37:g.334900A>G	ENSP00000383115:p.Val553Ala						p.V553A	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			6	1873	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	553			Collagen-like 3.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1658T>C	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	A	0.137	-1.107108	0.01813	.	.	ENSG00000158270	ENST00000400256	D	0.93247	-3.19	5.53	5.53	0.82687	.	0.386506	0.30338	N	0.009849	T	0.81103	0.4753	N	0.04705	-0.18	0.31397	N	0.677173	B	0.11235	0.004	B	0.12156	0.007	T	0.72577	-0.4251	10	0.08381	T	0.77	-17.4248	6.1608	0.20364	0.7813:0.0:0.0751:0.1436	.	553	Q5KU26	COL12_HUMAN	A	553	ENSP00000383115:V553A	ENSP00000383115:V553A	V	-	2	0	COLEC12	324900	0.008000	0.16893	0.899000	0.35326	0.015000	0.08874	1.900000	0.39828	2.094000	0.63399	0.459000	0.35465	GTT		PASS	0.736	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			5	18	5	18	---	---	---	---
TAF4B	6875	broad.mit.edu	37	18	23895363	23895363	+	Splice_Site	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr18:23895363G>C	ENST00000269142.5	+	10	3000		c.e10+1		TAF4B_ENST00000578121.1_Splice_Site	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa						gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TTAGACATTGGTAAGTGTAGA	0.368																																						uc002kvu.3																			1	Unknown(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.e10+1		TAF4b RNA polymerase II, TATA box binding							51.0	47.0	48.0					18																	23895363		1827	4074	5901	SO:0001630	splice_region_variant	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23895363G>C	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2002+1G>C	18.37:g.23895363G>C						TAF4B_uc002kvs.3_Splice_Site|TAF4B_uc002kvt.3_Splice_Site_p.G673_splice	p.G668_splice	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		10	2491	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)							Q29YA4|Q29YA5	Splice_Site	SNP	ENST00000269142.5	37	c.2002_splice	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588298	0.86851	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAF4B	22149361	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.869000	0.99810	2.802000	0.96397	0.655000	0.94253	.		PASS	0.368	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640	Intron	68	92	68	92	---	---	---	---
CCDC68	80323	broad.mit.edu	37	18	52571635	52571635	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr18:52571635G>T	ENST00000591504.1	-	12	1236	c.962C>A	c.(961-963)aCc>aAc	p.T321N	CCDC68_ENST00000432185.1_Missense_Mutation_p.T321N|CCDC68_ENST00000337363.4_Missense_Mutation_p.T321N	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	321								p.T321N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AACACCTTCGGTCTTCAATTC	0.368																																						uc002lfs.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(961-963)ACC>AAC		coiled-coil domain containing 68							92.0	86.0	88.0					18																	52571635		2203	4300	6503	SO:0001583	missense	80323							g.chr18:52571635G>T		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.962C>A	18.37:g.52571635G>T	ENSP00000466690:p.Thr321Asn					CCDC68_uc002lft.2_Missense_Mutation_p.T321N	p.T321N	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	12	1134	-			321					B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	37	c.962C>A	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410440	0.42715	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.22743	1.94;1.94	5.84	3.95	0.45737	.	0.355916	0.24557	N	0.037511	T	0.14227	0.0344	L	0.27053	0.805	0.24055	N	0.996034	P	0.37864	0.61	B	0.38616	0.277	T	0.11324	-1.0592	10	0.37606	T	0.19	-4.906	7.3959	0.26936	0.0882:0.1687:0.7432:0.0	.	321	Q9H2F9	CCD68_HUMAN	N	321	ENSP00000337209:T321N;ENSP00000413406:T321N	ENSP00000337209:T321N	T	-	2	0	CCDC68	50722633	0.995000	0.38212	0.920000	0.36463	0.775000	0.43874	1.388000	0.34442	1.468000	0.48064	0.650000	0.86243	ACC		PASS	0.368	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214		37	219	37	219	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59174683	59174683	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr18:59174683G>A	ENST00000262717.4	+	6	1305	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	CDH20_ENST00000536675.2_Missense_Mutation_p.E303K|CDH20_ENST00000538374.1_Missense_Mutation_p.E303K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E303K(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGACTTGGATGAAGGCATCAA	0.443																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(907-909)GAA>AAA		cadherin 20, type 2 preproprotein							174.0	151.0	159.0					18																	59174683		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59174683G>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.907G>A	18.37:g.59174683G>A	ENSP00000262717:p.Glu303Lys					CDH20_uc002lif.2_Missense_Mutation_p.E297K	p.E303K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			5	919	+		Colorectal(73;0.186)	303			Extracellular (Potential).|Cadherin 3.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.907G>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436858	0.83885	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.52295	0.67;0.67;0.67	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.124246	0.56097	D	0.000033	T	0.61426	0.2346	M	0.63428	1.95	0.49051	D	0.999741	P	0.45212	0.853	P	0.51297	0.665	T	0.61758	-0.6997	10	0.62326	D	0.03	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	303	Q9HBT6	CAD20_HUMAN	K	303	ENSP00000444767:E303K;ENSP00000442226:E303K;ENSP00000262717:E303K	ENSP00000262717:E303K	E	+	1	0	CDH20	57325663	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.191000	0.65110	2.719000	0.93026	0.555000	0.69702	GAA		PASS	0.443	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		254	174	254	174	---	---	---	---
CD226	10666	broad.mit.edu	37	18	67614263	67614263	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr18:67614263G>T	ENST00000280200.4	-	3	357	c.89C>A	c.(88-90)gCc>gAc	p.A30D	CD226_ENST00000582621.1_Missense_Mutation_p.A30D|CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	30	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.A30D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CATGTTCTCGGCAAAGGGAAC	0.423																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)GCC>GAC		CD226 molecule precursor							102.0	88.0	93.0					18																	67614263		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67614263G>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.89C>A	18.37:g.67614263G>T	ENSP00000280200:p.Ala30Asp					CD226_uc002lkm.3_Missense_Mutation_p.A30D	p.A30D	NM_006566	NP_006557	Q15762	CD226_HUMAN			2	536	-		Esophageal squamous(42;0.129)	30			Ig-like C2-type 1.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.89C>A	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690325	0.48097	.	.	ENSG00000150637	ENST00000280200	T	0.02446	4.29	5.51	5.51	0.81932	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.406531	0.27354	N	0.019746	T	0.11153	0.0272	M	0.68317	2.08	0.23936	N	0.996411	D	0.57257	0.979	P	0.57960	0.83	T	0.01448	-1.1352	10	0.66056	D	0.02	.	15.277	0.73750	0.0:0.0:1.0:0.0	.	30	Q15762	CD226_HUMAN	D	30	ENSP00000280200:A30D	ENSP00000280200:A30D	A	-	2	0	CD226	65765243	0.837000	0.29446	0.090000	0.20809	0.025000	0.11179	3.239000	0.51360	2.756000	0.94617	0.655000	0.94253	GCC		PASS	0.423	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		96	272	96	272	---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72999994	72999994	+	Nonsense_Mutation	SNP	G	G	T	rs529849837		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr18:72999994G>T	ENST00000580243.1	+	2	2980	c.2632G>T	c.(2632-2634)Gag>Tag	p.E878*	TSHZ1_ENST00000322038.5_Nonsense_Mutation_p.E833*			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	878					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E833*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCGTTGGACGAGCTGTCACC	0.617																																						uc002lly.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2497-2499)GAG>TAG		teashirt family zinc finger 1							56.0	51.0	52.0					18																	72999994		2203	4300	6503	SO:0001587	stop_gained	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999994G>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2632G>T	18.37:g.72999994G>T	ENSP00000464391:p.Glu878*						p.E833*	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3060	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	878					O60534|Q4LE29|Q53EU4	Nonsense_Mutation	SNP	ENST00000580243.1	37	c.2497G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.686526	0.98431	.	.	ENSG00000179981	ENST00000322038	.	.	.	4.96	4.96	0.65561	.	0.053131	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-45.8532	18.5761	0.91155	0.0:0.0:1.0:0.0	.	.	.	.	X	833	.	ENSP00000323584:E833X	E	+	1	0	TSHZ1	71128982	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	9.420000	0.97426	1.996000	0.58369	0.459000	0.35465	GAG		PASS	0.617	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		26	101	26	101	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74091860	74091860	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr18:74091860G>A	ENST00000443185.2	-	4	2527	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	737					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.A737V(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGTCGACCTCGCACTTAAATC	0.597																																						uc010dqx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2209-2211)GCG>GTG		zinc finger protein 516							50.0	53.0	52.0					18																	74091860		2008	4166	6174	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091860G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2210C>T	18.37:g.74091860G>A	ENSP00000394757:p.Ala737Val					ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	p.A737V	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2445	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	737						Missense_Mutation	SNP	ENST00000443185.2	37	c.2210C>T		.	.	.	.	.	.	.	.	.	.	G	4.400	0.073920	0.08485	.	.	ENSG00000101493	ENST00000443185	T	0.08370	3.1	4.55	-1.6	0.08426	.	0.559056	0.15980	N	0.235344	T	0.02380	0.0073	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43572	-0.9383	9	0.02654	T	1	-14.6707	5.0124	0.14319	0.3132:0.0:0.369:0.3178	.	737	Q92618	ZN516_HUMAN	V	737	ENSP00000394757:A737V	ENSP00000394757:A737V	A	-	2	0	ZNF516	72220848	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	0.813000	0.27225	-0.427000	0.07350	-0.137000	0.14449	GCG		PASS	0.597	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		19	60	19	60	---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1820047	1820047	+	Missense_Mutation	SNP	C	C	T	rs368328980		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:1820047C>T	ENST00000170168.4	-	7	2630	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	846						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)	p.E846K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		ACCTTCTCCTCGTTCAGTGCC	0.667																																						uc002lua.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2536-2538)GAG>AAG		transcription elongation factor B polypeptide 3		C	LYS/GLU	0,4406		0,0,2203	33.0	32.0	33.0		2536	3.9	0.9	19		33	1,8595	1.2+/-3.3	0,1,4297	no	missense	REXO1	NM_020695.3	56	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	846/1222	1820047	1,13001	2203	4298	6501	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1820047C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2536G>A	19.37:g.1820047C>T	ENSP00000170168:p.Glu846Lys					REXO1_uc010dsq.2_Missense_Mutation_p.E155K|REXO1_uc010xgs.1_5'UTR|REXO1_uc010dsp.1_RNA|uc002lub.1_5'Flank	p.E846K	NM_020695	NP_065746	Q8N1G1	REXO1_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)	7	2631	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	846					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.2536G>A	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729696	0.69074	0.0	1.16E-4	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.27104	1.69	3.93	3.93	0.45458	.	0.000000	0.85682	U	0.000000	T	0.54481	0.1861	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.63954	-0.6520	10	0.66056	D	0.02	-30.1339	14.5318	0.67931	0.0:1.0:0.0:0.0	.	155;846	B4DWY3;Q8N1G1	.;REXO1_HUMAN	K	846;118	ENSP00000170168:E846K	ENSP00000170168:E846K	E	-	1	0	REXO1	1771047	1.000000	0.71417	0.918000	0.36340	0.178000	0.23041	6.925000	0.75829	1.738000	0.51689	0.462000	0.41574	GAG		PASS	0.667	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		14	75	14	75	---	---	---	---
SF3A2	8175	broad.mit.edu	37	19	2243439	2243439	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:2243439G>A	ENST00000221494.5	+	2	440	c.22G>A	c.(22-24)Ggg>Agg	p.G8R		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	8					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G8R(1)		NS(1)|large_intestine(1)|lung(2)	4		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)		GCATCGCCCCGGGGGCAAGAC	0.642																																						uc002lvg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)GGG>AGG		splicing factor 3a, subunit 2							33.0	41.0	39.0					19																	2243439		2202	4299	6501	SO:0001583	missense	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2243439G>A	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.22G>A	19.37:g.2243439G>A	ENSP00000221494:p.Gly8Arg						p.G8R	NM_007165	NP_009096	Q15428	SF3A2_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	144	+		Hepatocellular(1079;0.137)	8					B2RBU1|D6W605|O75245	Missense_Mutation	SNP	ENST00000221494.5	37	c.22G>A	CCDS12084.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904782	0.92035	.	.	ENSG00000104897	ENST00000221494	T	0.68331	-0.32	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.85431	0.5695	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89603	0.3836	10	0.87932	D	0	-14.1025	15.9721	0.80027	0.0:0.0:1.0:0.0	.	8	Q15428	SF3A2_HUMAN	R	8	ENSP00000221494:G8R	ENSP00000221494:G8R	G	+	1	0	SF3A2	2194439	1.000000	0.71417	0.862000	0.33874	0.888000	0.51559	9.250000	0.95477	2.149000	0.67028	0.449000	0.29647	GGG		PASS	0.642	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			35	111	35	111	---	---	---	---
MATK	4145	broad.mit.edu	37	19	3783963	3783963	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:3783963A>G	ENST00000310132.6	-	6	829	c.431T>C	c.(430-432)tTc>tCc	p.F144S	MATK_ENST00000395045.2_Missense_Mutation_p.F145S|MATK_ENST00000395040.2_Missense_Mutation_p.F103S|MATK_ENST00000585778.1_Missense_Mutation_p.F144S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	144	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.F145S(1)|p.F144S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCACCAGGAACAGCCCATC	0.697																																						uc002lyt.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(430-432)TTC>TCC		megakaryocyte-associated tyrosine kinase isoform							23.0	23.0	23.0					19																	3783963		2199	4294	6493	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3783963A>G	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.431T>C	19.37:g.3783963A>G	ENSP00000308734:p.Phe144Ser					MATK_uc002lyv.2_Missense_Mutation_p.F145S|MATK_uc002lyu.2_Missense_Mutation_p.F103S|MATK_uc010dtq.2_Missense_Mutation_p.F144S	p.F144S	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	6	831	-		Hepatocellular(1079;0.137)	144			SH2.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.431T>C	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	a	19.27	3.794459	0.70452	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.96967	-4.19;-4.19;-4.19	4.8	4.8	0.61643	SH2 motif (5);	0.059875	0.64402	D	0.000002	D	0.98912	0.9631	H	0.98738	4.315	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.99072	1.0834	10	0.87932	D	0	-30.6349	13.5442	0.61693	1.0:0.0:0.0:0.0	.	144;145;144	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	S	145;144;103	ENSP00000378485:F145S;ENSP00000308734:F144S;ENSP00000378481:F103S	ENSP00000308734:F144S	F	-	2	0	MATK	3734963	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	6.782000	0.75073	1.797000	0.52628	0.454000	0.30748	TTC		PASS	0.697	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		14	35	14	35	---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8531119	8531119	+	Splice_Site	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:8531119C>T	ENST00000325495.4	+	7	672	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	HNRNPM_ENST00000348943.3_Splice_Site_p.L172L	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	211	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.L211L(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCTCGATTAGCTGGATTATAA	0.373																																						uc010dwe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(631-633)CTG>TTG		heterogeneous nuclear ribonucleoprotein M							163.0	158.0	160.0					19																	8531119		2203	4300	6503	SO:0001630	splice_region_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8531119C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.631-1C>T	19.37:g.8531119C>T						HNRNPM_uc010dwc.1_Silent_p.L211L|HNRNPM_uc010xke.1_Silent_p.L172L|HNRNPM_uc010dwd.2_Silent_p.L172L|HNRNPM_uc002mka.2_Silent_p.L91L	p.L211L	NM_005968	NP_005959	P52272	HNRPM_HUMAN			7	711	+			211			RRM 2.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.631C>T	CCDS12203.1																																																																																				PASS	0.373	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		Silent	92	369	92	369	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9065965	9065965	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:9065965C>T	ENST00000397910.4	-	3	21684	c.21481G>A	c.(21481-21483)Gag>Aag	p.E7161K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7163	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.E7161K(2)|p.E2794K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAGTCTCTCATCTGAAGTG	0.502																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21481-21483)GAG>AAG		mucin 16							182.0	168.0	173.0					19																	9065965		2093	4231	6324	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065965C>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.21481G>A	19.37:g.9065965C>T	ENSP00000381008:p.Glu7161Lys						p.E7161K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21685	-			7163			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21481G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.481	0.648736	0.14516	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	2.39	-2.86	0.05717	.	.	.	.	.	T	0.23330	0.0564	L	0.55481	1.735	.	.	.	P	0.34977	0.478	B	0.34385	0.181	T	0.25916	-1.0118	8	0.87932	D	0	.	3.7126	0.08425	0.0:0.2973:0.4334:0.2693	.	7161	B5ME49	.	K	7161	ENSP00000381008:E7161K	ENSP00000381008:E7161K	E	-	1	0	MUC16	8926965	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.536000	0.06135	-0.552000	0.06167	0.394000	0.25966	GAG		PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	230	68	230	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9089140	9089140	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:9089140G>C	ENST00000397910.4	-	1	2878	c.2675C>G	c.(2674-2676)tCt>tGt	p.S892C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	892	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.S892C(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						GGTAGGGACAGAGGTGCTGGC	0.507																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2674-2676)TCT>TGT		mucin 16							85.0	89.0	88.0					19																	9089140		1978	4164	6142	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089140G>C	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.2675C>G	19.37:g.9089140G>C	ENSP00000381008:p.Ser892Cys						p.S892C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2879	-			892			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2675C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.949	-0.217168	0.06101	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.37	1.37	0.22104	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.71674	0.998	D	0.67231	0.95	T	0.43442	-0.9391	8	0.87932	D	0	.	6.1404	0.20257	0.0:0.0:1.0:0.0	.	892	B5ME49	.	C	892	ENSP00000381008:S892C	ENSP00000381008:S892C	S	-	2	0	MUC16	8950140	0.001000	0.12720	0.001000	0.08648	0.166000	0.22503	0.698000	0.25571	1.062000	0.40625	0.205000	0.17691	TCT		PASS	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	31	18	31	---	---	---	---
CCDC151	115948	broad.mit.edu	37	19	11533444	11533444	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:11533444C>G	ENST00000356392.4	-	9	1289	c.1202G>C	c.(1201-1203)aGg>aCg	p.R401T	CCDC151_ENST00000591179.1_Missense_Mutation_p.R341T|CCDC151_ENST00000545100.1_Missense_Mutation_p.R347T|CCDC151_ENST00000586836.1_Missense_Mutation_p.R210T	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	401								p.R401T(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTGCTTCAGCCTCACCAACGT	0.657																																						uc002mrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1201-1203)AGG>ACG		coiled-coil domain containing 151							43.0	52.0	49.0					19																	11533444		2082	4203	6285	SO:0001583	missense	115948							g.chr19:11533444C>G		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1202G>C	19.37:g.11533444C>G	ENSP00000348757:p.Arg401Thr					CCDC151_uc002mrr.2_Missense_Mutation_p.R336T|CCDC151_uc010dxz.2_Missense_Mutation_p.R341T	p.R401T	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			9	1345	-			401			Potential.		B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.1202G>C	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	4.959	0.178134	0.09443	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	T;T	0.15139	2.45;2.69	4.79	-9.57	0.00562	.	0.650992	0.15352	N	0.266885	T	0.08891	0.0220	L	0.41236	1.265	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.20505	-1.0273	10	0.19147	T	0.46	-11.2351	8.9793	0.35955	0.0:0.1841:0.2653:0.5506	.	401;401;381	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	T	347;401;380	ENSP00000442987:R347T;ENSP00000348757:R401T	ENSP00000348757:R401T	R	-	2	0	CCDC151	11394444	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-2.723000	0.00810	-1.812000	0.01227	-1.407000	0.01130	AGG		PASS	0.657	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		19	74	19	74	---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060230	12060230	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:12060230A>T	ENST00000254321.5	+	4	1534	c.1391A>T	c.(1390-1392)cAt>cTt	p.H464L	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.H446L|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	464					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.H464L(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTTCGAGTGCATGGTAGGACT	0.453																																						uc002msu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)CAT>CTT		zinc finger protein 700							81.0	79.0	80.0					19																	12060230		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060230A>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1391A>T	19.37:g.12060230A>T	ENSP00000254321:p.His464Leu					ZNF700_uc010xme.1_Missense_Mutation_p.H482L|ZNF763_uc010xmf.1_Intron	p.H464L	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	1517	+			464			C2H2-type 9.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1391A>T	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	a	14.37	2.514958	0.44763	.	.	ENSG00000196757	ENST00000254321	D	0.86865	-2.18	0.606	0.606	0.17559	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94584	0.8255	H	0.97758	4.07	0.36466	D	0.866984	D	0.89917	1.0	D	0.91635	0.999	D	0.93125	0.6528	9	0.87932	D	0	.	6.783	0.23657	1.0:0.0:0.0:0.0	.	464	Q9H0M5	ZN700_HUMAN	L	464	ENSP00000254321:H464L	ENSP00000254321:H464L	H	+	2	0	ZNF700	11921230	0.999000	0.42202	0.008000	0.14137	0.033000	0.12548	4.951000	0.63610	0.485000	0.27652	0.164000	0.16699	CAT		PASS	0.453	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		50	163	50	163	---	---	---	---
IL27RA	9466	broad.mit.edu	37	19	14143296	14143296	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:14143296C>T	ENST00000263379.2	+	2	324	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	CTB-55O6.4_ENST00000590528.1_RNA	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	67					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.H67Y(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTCCGAGTTACACCTCCAGAG	0.622																																					Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)CAC>TAC		class I cytokine receptor precursor							67.0	73.0	71.0					19																	14143296		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14143296C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.199C>T	19.37:g.14143296C>T	ENSP00000263379:p.His67Tyr						p.H67Y	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			2	622	+			67			Extracellular (Potential).		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.199C>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.156454	0.01686	.	.	ENSG00000104998	ENST00000263379	T	0.61274	0.12	4.09	0.00514	0.14061	.	0.896285	0.09215	N	0.832732	T	0.26882	0.0658	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26815	-1.0092	10	0.02654	T	1	-10.2519	5.3128	0.15839	0.0:0.447:0.0:0.553	.	67	Q6UWB1	I27RA_HUMAN	Y	67	ENSP00000263379:H67Y	ENSP00000263379:H67Y	H	+	1	0	IL27RA	14004296	0.009000	0.17119	0.060000	0.19600	0.050000	0.14768	0.032000	0.13732	0.253000	0.21552	0.491000	0.48974	CAC		PASS	0.622	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		70	242	70	242	---	---	---	---
KIAA1683	80726	broad.mit.edu	37	19	18368565	18368565	+	Silent	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:18368565G>T	ENST00000600328.3	-	4	3161	c.2968C>A	c.(2968-2970)Cgg>Agg	p.R990R	PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000600359.3_Silent_p.R944R|KIAA1683_ENST00000392413.4_Silent_p.R1177R|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	990	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R1177R(1)|p.R990R(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCTTGGTCCCGGCGGGTGCTG	0.687																																						uc002nin.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2968-2970)CGG>AGG		KIAA1683 isoform b							21.0	26.0	24.0					19																	18368565		2077	4087	6164	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368565G>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2968C>A	19.37:g.18368565G>T						PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Silent_p.R1177R|KIAA1683_uc010xqe.1_Silent_p.R944R|KIAA1683_uc010xqf.1_RNA	p.R990R	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			4	3184	-			990			IQ 4.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.2968C>A	CCDS32958.1																																																																																				PASS	0.687	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			44	43	44	43	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22156606	22156606	+	Silent	SNP	T	T	G	rs547126951		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:22156606T>G	ENST00000397126.4	-	4	1378	c.1230A>C	c.(1228-1230)tcA>tcC	p.S410S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S410S(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGTAAGGATTGAGAACATAC	0.383													t|||	1	0.000199681	0.0	0.0	5008	,	,		21250	0.0		0.0	False		,,,				2504	0.001					uc002nqp.2																			3	Substitution - coding silent(3)		lung(3)	ovary(5)|skin(2)	7						c.(1228-1230)TCA>TCC		zinc finger protein 208							50.0	57.0	54.0					19																	22156606		2002	4209	6211	SO:0001819	synonymous_variant	7757							g.chr19:22156606T>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1230A>C	19.37:g.22156606T>G						ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.S410S	NM_007153	NP_009084					4	1379	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1230A>C	CCDS54240.1																																																																																				PASS	0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		45	156	45	156	---	---	---	---
ZNF461	92283	broad.mit.edu	37	19	37129799	37129799	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:37129799T>A	ENST00000588268.1	-	6	1675	c.1448A>T	c.(1447-1449)cAc>cTc	p.H483L	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.H460L	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H483L(1)|p.H356L(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGAATAAGGTGTGAATGAAG	0.393																																						uc002oem.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1447-1449)CAC>CTC		gonadotropin inducible transcription repressor							67.0	72.0	70.0					19																	37129799		2201	4299	6500	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129799T>A	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1448A>T	19.37:g.37129799T>A	ENSP00000467931:p.His483Leu					ZNF461_uc002oen.2_Missense_Mutation_p.H452L|ZNF461_uc010xtj.1_Missense_Mutation_p.H460L	p.H483L	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1676	-	Esophageal squamous(110;0.198)		483			C2H2-type 10.		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.1448A>T	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	T	5.252	0.231902	0.09969	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605;ENST00000396892	T	0.13089	2.62	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18383	0.0441	L	0.41961	1.31	0.09310	N	1	B;D;B	0.67145	0.045;0.996;0.045	B;P;B	0.58130	0.005;0.833;0.005	T	0.13072	-1.0523	9	0.23302	T	0.38	.	4.3274	0.11046	0.1975:0.0:0.2039:0.5985	.	460;405;483	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	L	483;214;460;356;177	ENSP00000353515:H460L	ENSP00000353515:H460L	H	-	2	0	ZNF461	41821639	0.000000	0.05858	0.777000	0.31699	0.990000	0.78478	-0.471000	0.06631	1.579000	0.49836	0.402000	0.26972	CAC		PASS	0.393	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		32	121	32	121	---	---	---	---
ZNF527	84503	broad.mit.edu	37	19	37880312	37880312	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:37880312G>T	ENST00000436120.2	+	5	1468	c.1361G>T	c.(1360-1362)cGc>cTc	p.R454L	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	454					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.R454L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGGCTATCGCTCACACCTG	0.423																																						uc010efk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1360-1362)CGC>CTC		zinc finger protein 527							69.0	77.0	74.0					19																	37880312		2194	4292	6486	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880312G>T	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1361G>T	19.37:g.37880312G>T	ENSP00000390179:p.Arg454Leu					ZNF527_uc002ogf.3_Missense_Mutation_p.R422L|ZNF527_uc010xtq.1_RNA	p.R454L	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1472	+			454			C2H2-type 7.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1361G>T	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	7.980	0.750996	0.15778	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.84	1.48	0.22813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34906	N	0.003586	T	0.17916	0.0430	L	0.39020	1.185	0.09310	N	1	B;B	0.33755	0.299;0.424	B;B	0.27796	0.038;0.083	T	0.06110	-1.0845	9	0.15499	T	0.54	.	2.3594	0.04303	0.0991:0.1659:0.3945:0.3405	.	454;422	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	L	454;422;402	.	ENSP00000325231:R422L	R	+	2	0	ZNF527	42572152	0.000000	0.05858	0.131000	0.22000	0.998000	0.95712	-0.114000	0.10757	0.825000	0.34637	0.655000	0.94253	CGC		PASS	0.423	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		27	120	27	120	---	---	---	---
SIRT2	22933	broad.mit.edu	37	19	39384155	39384155	+	Missense_Mutation	SNP	C	C	G	rs200012062		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:39384155C>G	ENST00000249396.7	-	4	426	c.125G>C	c.(124-126)cGg>cCg	p.R42P	SIRT2_ENST00000358931.5_Missense_Mutation_p.R42P|SIRT2_ENST00000392081.2_Missense_Mutation_p.R5P	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	42					autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.R42P(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GAATAAGTTCCGCAGGAAGTC	0.637																																						uc002ojt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)CGG>CCG		sirtuin 2 isoform 1							35.0	31.0	32.0					19																	39384155		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39384155C>G	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.125G>C	19.37:g.39384155C>G	ENSP00000249396:p.Arg42Pro					SIRT2_uc010egh.1_Missense_Mutation_p.R5P|SIRT2_uc010egi.1_Missense_Mutation_p.R5P|SIRT2_uc002ojs.1_Missense_Mutation_p.R22P|SIRT2_uc002oju.1_Missense_Mutation_p.R5P|SIRT2_uc010egj.1_Missense_Mutation_p.R5P|SIRT2_uc002ojv.1_Missense_Mutation_p.R42P	p.R42P	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		4	325	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		42					A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.125G>C	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171334	0.78452	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766;ENST00000437828;ENST00000447739	T;T;T;T;T;T	0.50548	1.29;1.31;0.74;0.8;0.76;0.74	3.73	3.73	0.42828	.	0.210925	0.39834	N	0.001242	T	0.67249	0.2873	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.987;0.952;0.993	T	0.72795	-0.4185	10	0.66056	D	0.02	-9.1194	14.7821	0.69774	0.0:1.0:0.0:0.0	.	42;5;42;22	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	P	42;5;42;27;5;5;5;5;5	ENSP00000249396:R42P;ENSP00000375931:R5P;ENSP00000351809:R42P;ENSP00000404309:R5P;ENSP00000385146:R5P;ENSP00000401203:R5P	ENSP00000249396:R42P	R	-	2	0	SIRT2	44075995	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.167000	0.64972	2.027000	0.59764	0.462000	0.41574	CGG		PASS	0.637	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			12	45	12	45	---	---	---	---
ZNF222	7673	broad.mit.edu	37	19	44536824	44536824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:44536824C>T	ENST00000187879.8	+	4	1159	c.997C>T	c.(997-999)Cga>Tga	p.R333*	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Nonsense_Mutation_p.R373*	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	333					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.R333*(1)|p.R373*(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GGTCCATCAACGAGTCCACAC	0.428																																						uc002oyc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(997-999)CGA>TGA		zinc finger protein 222 isoform 2							105.0	103.0	104.0					19																	44536824		2203	4300	6503	SO:0001587	stop_gained	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536824C>T	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.997C>T	19.37:g.44536824C>T	ENSP00000187879:p.Arg333*					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Nonsense_Mutation_p.R373*|ZNF222_uc002oyd.2_Nonsense_Mutation_p.R279*	p.R333*	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	1180	+		Prostate(69;0.0435)	333			C2H2-type 7.		G5E9B9|Q8N6G7|Q9P1U5	Nonsense_Mutation	SNP	ENST00000187879.8	37	c.997C>T	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770789	0.69992	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	.	.	.	2.79	-4.44	0.03557	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.172	0.15114	0.4349:0.2672:0.2979:0.0	.	.	.	.	X	373;333;279	.	ENSP00000187879:R333X	R	+	1	2	ZNF222	49228664	0.000000	0.05858	0.079000	0.20413	0.313000	0.28021	-2.898000	0.00705	-1.050000	0.03230	0.205000	0.17691	CGA		PASS	0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			100	283	100	283	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44947019	44947019	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:44947019T>A	ENST00000588931.1	-	3	446	c.13A>T	c.(13-15)Acc>Tcc	p.T5S	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.T5S|ZNF229_ENST00000591289.1_5'UTR	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T5S(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGCCTTGAGGTCAAAGTCTCC	0.483																																						uc002oze.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(13-15)ACC>TCC		zinc finger protein 229							171.0	153.0	159.0					19																	44947019		1886	4123	6009	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44947019T>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.13A>T	19.37:g.44947019T>A	ENSP00000466519:p.Thr5Ser					ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.T5S	p.T5S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			3	447	-		Prostate(69;0.0352)	5					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.13A>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.036299	0.35893	.	.	ENSG00000167383	ENST00000291187	T	0.07216	3.21	2.67	-4.28	0.03732	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.21917	0.037	T	0.42799	-0.9430	9	0.32370	T	0.25	.	5.3825	0.16199	0.1765:0.5337:0.0:0.2899	.	5	Q9UJW7	ZN229_HUMAN	S	5	ENSP00000291187:T5S	ENSP00000291187:T5S	T	-	1	0	ZNF229	49638859	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.452000	0.06787	-1.296000	0.02353	-0.509000	0.04479	ACC		PASS	0.483	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		31	205	31	205	---	---	---	---
ZNF296	162979	broad.mit.edu	37	19	45579091	45579091	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:45579091C>G	ENST00000303809.2	-	2	542	c.328G>C	c.(328-330)Gat>Cat	p.D110H	CTB-179K24.3_ENST00000586744.1_RNA	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	110					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D110H(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GTCAACAGATCTGGGTGTTTG	0.652																																						uc002pao.2																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)GAT>CAT		zinc finger protein 296							62.0	66.0	65.0					19																	45579091		2203	4300	6503	SO:0001583	missense	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45579091C>G	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.328G>C	19.37:g.45579091C>G	ENSP00000302770:p.Asp110His						p.D110H	NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN			2	385	-			110						Missense_Mutation	SNP	ENST00000303809.2	37	c.328G>C	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.686318	0.88639	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.14516	2.5	5.03	5.03	0.67393	.	0.143680	0.31809	N	0.007033	T	0.37404	0.1002	M	0.73598	2.24	0.43913	D	0.996557	D	0.89917	1.0	D	0.91635	0.999	T	0.16660	-1.0395	10	0.87932	D	0	-8.5668	13.8672	0.63596	0.0:1.0:0.0:0.0	.	110	Q8WUU4	ZN296_HUMAN	H	110;86	ENSP00000302770:D110H	ENSP00000302770:D110H	D	-	1	0	ZNF296	50270931	0.994000	0.37717	1.000000	0.80357	0.876000	0.50452	3.199000	0.51043	2.327000	0.79052	0.651000	0.88453	GAT		PASS	0.652	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		32	119	32	119	---	---	---	---
STRN4	29888	broad.mit.edu	37	19	47230799	47230799	+	Silent	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:47230799G>C	ENST00000263280.6	-	9	1207	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Silent_p.V267V|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000391910.3_Silent_p.V393V	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	386						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.V386V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCATGATGAAGACGTCTGAGG	0.587																																						uc002pfl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1156-1158)GTC>GTG		zinedin isoform 1							52.0	44.0	47.0					19																	47230799		2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47230799G>C	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1158C>G	19.37:g.47230799G>C						STRN4_uc002pfm.2_Silent_p.V393V|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	p.V386V	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	9	1191	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	386					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.1158C>G	CCDS12690.1																																																																																				PASS	0.587	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			8	38	8	38	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50775187	50775187	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:50775187A>G	ENST00000596571.1	+	23	3130	c.3130A>G	c.(3130-3132)Aag>Gag	p.K1044E	MYH14_ENST00000440075.2_Missense_Mutation_p.K1085E|MYH14_ENST00000262269.8_Missense_Mutation_p.K1085E|MYH14_ENST00000376970.2_Missense_Mutation_p.K1077E|MYH14_ENST00000601313.1_Missense_Mutation_p.K1085E|MYH14_ENST00000598205.1_Missense_Mutation_p.K1052E|MYH14_ENST00000425460.1_Missense_Mutation_p.K1052E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1044					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.I1043M(1)|p.K1085E(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAGCCTCAATAAGCTACGGCT	0.587																																						uc002prr.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(3130-3132)AAG>GAG		myosin, heavy chain 14 isoform 2							43.0	46.0	45.0					19																	50775187		2032	4188	6220	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50775187A>G	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3130A>G	19.37:g.50775187A>G	ENSP00000472819:p.Lys1044Glu					MYH14_uc010enu.1_Missense_Mutation_p.K1085E|MYH14_uc002prq.1_Missense_Mutation_p.K1052E	p.K1044E	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	24	3177	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1044			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.3130A>G	CCDS59411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.86|19.86	3.904953|3.904953	0.72868|0.72868	.|.	.|.	ENSG00000105357|ENSG00000105357	ENST00000301415;ENST00000376965|ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	.|D;D;D;D	.|0.91686	.|-2.89;-2.89;-2.89;-2.89	3.17|3.17	3.17|3.17	0.36434|0.36434	.|.	.|.	.|.	.|.	.|.	D|D	0.96140|0.96140	0.8742|0.8742	M|M	0.91406|0.91406	3.205|3.205	0.49483|0.49483	D|D	0.99979|0.99979	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.81914	.|0.995;0.988;0.995	D|D	0.96053|0.96053	0.9033|0.9033	6|9	0.87932|0.87932	D|D	0|0	.|.	10.0621|10.0621	0.42282|0.42282	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1085;1044;1052	.|Q7Z406-2;Q7Z406;Q7Z406-6	.|.;MYH14_HUMAN;.	M|E	1043|1085;1077;1052;1085	.|ENSP00000406273:K1085E;ENSP00000366169:K1077E;ENSP00000407879:K1052E;ENSP00000262269:K1085E	ENSP00000301415:I1043M|ENSP00000262269:K1085E	I|K	+|+	3|1	3|0	MYH14|MYH14	55466999|55466999	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.801000|0.801000	0.45260|0.45260	8.595000|8.595000	0.90840|0.90840	1.684000|1.684000	0.51022|0.51022	0.533000|0.533000	0.62120|0.62120	ATA|AAG		PASS	0.587	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		6	30	6	30	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51631751	51631751	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:51631751G>A	ENST00000250360.3	+	6	1254	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.R396K	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	396					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.R396K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AACGCTGTCAGGGGTTCAGCC	0.582																																						uc002pvu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1186-1188)AGG>AAG		sialic acid binding Ig-like lectin 9 precursor							108.0	93.0	98.0					19																	51631751		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51631751G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1187G>A	19.37:g.51631751G>A	ENSP00000250360:p.Arg396Lys					SIGLEC9_uc010yct.1_Missense_Mutation_p.R396K	p.R396K	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	6	1254	+		all_neural(266;0.0529)	396			Cytoplasmic (Potential).		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.1187G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	9.546	1.114534	0.20795	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13901	2.55;2.83	1.84	-0.67	0.11384	.	.	.	.	.	T	0.05823	0.0152	L	0.29908	0.895	0.09310	N	1	B	0.34241	0.444	B	0.28011	0.085	T	0.32079	-0.9920	9	0.05351	T	0.99	.	3.2689	0.06875	0.2484:0.3932:0.3584:0.0	.	396	Q9Y336	SIGL9_HUMAN	K	396	ENSP00000413861:R396K;ENSP00000250360:R396K	ENSP00000250360:R396K	R	+	2	0	SIGLEC9	56323563	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.244000	0.02902	-0.099000	0.12263	0.407000	0.27541	AGG		PASS	0.582	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		38	92	38	92	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53269448	53269448	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:53269448T>C	ENST00000338230.3	-	3	1828	c.1561A>G	c.(1561-1563)Agt>Ggt	p.S521G		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S521G(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTCTCACCACTATGAACTCTG	0.438																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1561-1563)AGT>GGT		zinc finger protein 600							204.0	184.0	191.0					19																	53269448		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269448T>C	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1561A>G	19.37:g.53269448T>C	ENSP00000344791:p.Ser521Gly						p.S521G	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1847	-			521					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.1561A>G	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	16.26	3.072437	0.55646	.	.	ENSG00000189190	ENST00000338230	T	0.19669	2.13	1.51	1.51	0.23008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28928	0.0718	L	0.27975	0.815	0.25786	N	0.984677	D	0.53885	0.963	D	0.69824	0.966	T	0.09335	-1.0679	9	0.87932	D	0	.	7.9002	0.29729	0.0:0.0:0.0:1.0	.	521	Q6ZNG1	ZN600_HUMAN	G	521	ENSP00000344791:S521G	ENSP00000344791:S521G	S	-	1	0	ZNF600	57961260	0.898000	0.30612	0.004000	0.12327	0.077000	0.17291	1.448000	0.35112	0.700000	0.31782	0.163000	0.16589	AGT		PASS	0.438	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		122	444	122	444	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53383958	53383958	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:53383958C>A	ENST00000595635.1	-	8	1922	c.1421G>T	c.(1420-1422)tGt>tTt	p.C474F	ZNF320_ENST00000391781.2_Missense_Mutation_p.C474F|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C474F(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GACCTTGCCACACTGATGACA	0.403																																						uc002qag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1420-1422)TGT>TTT		zinc finger protein 320							82.0	72.0	75.0					19																	53383958		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53383958C>A	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1421G>T	19.37:g.53383958C>A	ENSP00000473091:p.Cys474Phe					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.C420F|ZNF320_uc002qai.2_Missense_Mutation_p.C474F	p.C474F	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1612	-			474			C2H2-type 12; degenerate.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1421G>T	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	15.06	2.721469	0.48728	.	.	ENSG00000182986	ENST00000391781	D	0.85861	-2.04	1.75	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93419	0.7901	H	0.94771	3.58	0.28609	N	0.908779	D	0.89917	1.0	D	0.74348	0.983	D	0.86264	0.1657	9	0.87932	D	0	.	10.504	0.44823	0.0:1.0:0.0:0.0	.	474	A2RRD8	ZN320_HUMAN	F	474	ENSP00000375660:C474F	ENSP00000375660:C474F	C	-	2	0	ZNF320	58075770	0.299000	0.24426	0.082000	0.20525	0.457000	0.32468	1.897000	0.39799	0.960000	0.38005	0.194000	0.17425	TGT		PASS	0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		69	100	69	100	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54783874	54783874	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:54783874T>A	ENST00000391749.4	-	4	398	c.127A>T	c.(127-129)Agt>Tgt	p.S43C	LILRB2_ENST00000434421.1_Intron|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391746.1_Missense_Mutation_p.S43C|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.S43C|LILRB2_ENST00000314446.5_Missense_Mutation_p.S43C	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	43	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.S43C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGGGACTCCCCTGGGTG	0.532																																						uc002qfb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(127-129)AGT>TGT		leukocyte immunoglobulin-like receptor,							137.0	141.0	139.0					19																	54783874		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783874T>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.127A>T	19.37:g.54783874T>A	ENSP00000375629:p.Ser43Cys					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.S43C|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.S43C|LILRB2_uc010yet.1_Intron|LILRB2_uc010yeu.1_RNA	p.S43C	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	393	-	Ovarian(34;0.19)		43			Extracellular (Potential).|Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.127A>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123899	0.37533	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	1.76	-0.529	0.11901	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.648090	0.03037	N	0.152835	T	0.40522	0.1120	M	0.93328	3.405	0.09310	N	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.964;0.946;0.991	T	0.12116	-1.0560	10	0.87932	D	0	.	4.2695	0.10780	0.0:0.4084:0.0:0.5916	.	43;60;43	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	C	43	ENSP00000375628:S43C;ENSP00000319960:S43C;ENSP00000375629:S43C;ENSP00000375626:S43C	ENSP00000319960:S43C	S	-	1	0	LILRB2	59475686	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-0.306000	0.08178	-0.182000	0.10602	0.240000	0.17902	AGT		PASS	0.532	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			186	217	186	217	---	---	---	---
LILRA3	11026	broad.mit.edu	37	19	54802503	54802503	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:54802503G>T	ENST00000251390.3	-	5	1029	c.938C>A	c.(937-939)cCc>cAc	p.P313H	LILRA3_ENST00000391745.1_Missense_Mutation_p.P330H|LILRA3_ENST00000391744.3_Missense_Mutation_p.P249H	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	313	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P313H(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GATGTCCAGGGGGTCGCTGGG	0.677																																						uc002qfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(937-939)CCC>CAC		leukocyte immunoglobulin-like receptor,							24.0	28.0	26.0					19																	54802503		2189	4154	6343	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54802503G>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.938C>A	19.37:g.54802503G>T	ENSP00000251390:p.Pro313His					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.P249H	p.P313H	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1003	-	Ovarian(34;0.19)		313			Ig-like C2-type 3.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.938C>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153337	0.38021	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.14391	2.51;2.51;2.51	2.1	2.1	0.27182	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.238919	0.21831	N	0.068476	T	0.38134	0.1029	M	0.89715	3.055	0.09310	N	1	D;P	0.71674	0.998;0.883	D;P	0.72982	0.979;0.904	T	0.06899	-1.0801	10	0.66056	D	0.02	.	7.8008	0.29174	0.0:0.0:1.0:0.0	.	313;313	E7EU74;Q8N6C8	.;LIRA3_HUMAN	H	313;249;330	ENSP00000251390:P313H;ENSP00000375624:P249H;ENSP00000375625:P330H	ENSP00000251390:P313H	P	-	2	0	LILRA3	59494315	0.044000	0.20184	0.202000	0.23494	0.030000	0.12068	0.811000	0.27198	1.516000	0.48900	0.586000	0.80456	CCC		PASS	0.677	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			53	73	53	73	---	---	---	---
LAIR2	3904	broad.mit.edu	37	19	55019216	55019216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:55019216G>T	ENST00000301202.2	+	3	303	c.181G>T	c.(181-183)Gag>Tag	p.E61*	LAIR2_ENST00000351841.2_Nonsense_Mutation_p.E61*	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	61	Ig-like C2-type.					extracellular region (GO:0005576)		p.E61*(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ATTCCGCCTGGAGAGGGAGGA	0.537																																						uc002qgc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(181-183)GAG>TAG		leukocyte-associated immunoglobulin-like							99.0	97.0	97.0					19																	55019216		2203	4300	6503	SO:0001587	stop_gained	3904					extracellular region	receptor activity	g.chr19:55019216G>T	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.181G>T	19.37:g.55019216G>T	ENSP00000301202:p.Glu61*					LAIR2_uc002qga.1_RNA|LAIR2_uc002qgb.1_RNA|LAIR2_uc002qgd.2_Nonsense_Mutation_p.E61*|LAIR2_uc010erl.2_Nonsense_Mutation_p.E61*	p.E61*	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	303	+	Ovarian(34;0.19)		61			Ig-like C2-type.		Q6PEZ4	Nonsense_Mutation	SNP	ENST00000301202.2	37	c.181G>T	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890735	0.33348	.	.	ENSG00000167618	ENST00000412608;ENST00000452094;ENST00000301202;ENST00000351841	.	.	.	3.51	1.22	0.21188	.	0.165066	0.28671	N	0.014528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.8122	0.13349	0.1287:0.2218:0.6495:0.0	.	.	.	.	X	55;43;61;61	.	ENSP00000301202:E61X	E	+	1	0	LAIR2	59711028	0.411000	0.25384	0.110000	0.21437	0.110000	0.19582	0.009000	0.13219	0.262000	0.21774	0.462000	0.41574	GAG		PASS	0.537	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			60	198	60	198	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106657	55106657	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr19:55106657T>C	ENST00000251372.3	+	5	633	c.451T>C	c.(451-453)Ttt>Ctt	p.F151L	LILRA1_ENST00000453777.1_Missense_Mutation_p.F151L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	151	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.F151L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACAGGTGGCATTTGGCAGCTT	0.557																																						uc002qgh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(451-453)TTT>CTT		leukocyte immunoglobulin-like receptor,							163.0	154.0	157.0					19																	55106657		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106657T>C	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.451T>C	19.37:g.55106657T>C	ENSP00000251372:p.Phe151Leu					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.F151L	p.F151L	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	633	+			151			Ig-like C2-type 2.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.451T>C	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	T	8.938	0.964996	0.18583	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.03065	4.06;4.06	1.39	1.39	0.22231	Immunoglobulin-like fold (1);	0.464504	0.18354	N	0.143794	T	0.07052	0.0179	M	0.80746	2.51	0.09310	N	1	B;P	0.40970	0.209;0.734	B;B	0.43889	0.084;0.435	T	0.13124	-1.0521	10	0.39692	T	0.17	.	4.97	0.14110	0.0:0.0:0.0:1.0	.	151;151	O75019-2;O75019	.;LIRA1_HUMAN	L	151	ENSP00000251372:F151L;ENSP00000413715:F151L	ENSP00000251372:F151L	F	+	1	0	LILRA1	59798469	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-0.257000	0.08745	0.908000	0.36671	0.163000	0.16589	TTT		PASS	0.557	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		151	173	151	173	---	---	---	---
SLC52A3	113278	broad.mit.edu	37	20	746113	746113	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:746113G>A	ENST00000217254.7	-	2	547	c.306C>T	c.(304-306)ggC>ggT	p.G102G	SLC52A3_ENST00000381944.3_Silent_p.G102G|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	102					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.G102G(1)									TGCTGTGGTGGCCGTCCAGCA	0.592																																						uc002wed.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(304-306)GGC>GGT		hypothetical protein LOC113278 precursor							59.0	47.0	51.0					20																	746113		2201	4299	6500	SO:0001819	synonymous_variant	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:746113G>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.306C>T	20.37:g.746113G>A						C20orf54_uc002wee.2_Silent_p.G102G	p.G102G	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			2	645	-			102			Helical; (Potential).		A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	c.306C>T	CCDS13007.1																																																																																				PASS	0.592	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		6	31	6	31	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903529	5903529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:5903529G>T	ENST00000378961.4	+	4	943	c.739G>T	c.(739-741)Gag>Tag	p.E247*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	247						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.E247*(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGGGAGCCAGGAGAATCACCC	0.567																																						uc002wmg.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(739-741)GAG>TAG		chromogranin B precursor							47.0	57.0	54.0					20																	5903529		2203	4300	6503	SO:0001587	stop_gained	1114					extracellular region	hormone activity	g.chr20:5903529G>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.739G>T	20.37:g.5903529G>T	ENSP00000368244:p.Glu247*					CHGB_uc010zqz.1_5'UTR	p.E247*	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1045	+			247					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Nonsense_Mutation	SNP	ENST00000378961.4	37	c.739G>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393844	0.62066	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	.	.	.	5.57	2.42	0.29668	.	1.515430	0.03542	N	0.224114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-14.0141	10.7748	0.46343	0.0685:0.2438:0.6876:0.0	.	.	.	.	X	247;227	.	ENSP00000368244:E247X	E	+	1	0	CHGB	5851529	0.990000	0.36364	0.188000	0.23233	0.088000	0.18126	3.073000	0.50057	0.655000	0.30866	0.563000	0.77884	GAG		PASS	0.567	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		15	54	15	54	---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13280083	13280083	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:13280083T>C	ENST00000262487.4	+	6	1378	c.1372T>C	c.(1372-1374)Ttc>Ctc	p.F458L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	458						extracellular region (GO:0005576)		p.F458L(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CATCAAGCAGTTCCAAGAGGC	0.582																																						uc010gce.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1372-1374)TTC>CTC		isthmin 1 homolog precursor							70.0	79.0	76.0					20																	13280083		2146	4249	6395	SO:0001583	missense	140862					extracellular region		g.chr20:13280083T>C	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1372T>C	20.37:g.13280083T>C	ENSP00000262487:p.Phe458Leu					TASP1_uc010zri.1_Intron	p.F458L	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			6	1378	+			458					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.1372T>C	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	T	9.681	1.149386	0.21288	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.37752	1.18;1.2	5.98	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	N	0.05441	-0.05	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.09796	-1.0658	10	0.02654	T	1	0.67	11.7814	0.52018	0.0:0.0683:0.0:0.9317	.	458	B1AKI9	ISM1_HUMAN	L	458;412	ENSP00000262487:F458L;ENSP00000409938:F412L	ENSP00000262487:F458L	F	+	1	0	ISM1	13228083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.209000	0.72171	1.088000	0.41272	0.533000	0.62120	TTC		PASS	0.582	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			80	85	80	85	---	---	---	---
ESF1	51575	broad.mit.edu	37	20	13747527	13747527	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:13747527C>T	ENST00000202816.1	-	8	1670	c.1563G>A	c.(1561-1563)atG>atA	p.M521I		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.M521I(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCCTGTTGAGCATTGTAATTC	0.378																																						uc002woj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1561-1563)ATG>ATA		ABT1-associated protein							166.0	163.0	164.0					20																	13747527		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13747527C>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1563G>A	20.37:g.13747527C>T	ENSP00000202816:p.Met521Ile					ESF1_uc002wok.1_Missense_Mutation_p.M521I	p.M521I	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			8	1671	-			521					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.1563G>A	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	9.192	1.026213	0.19512	.	.	ENSG00000089048	ENST00000202816	T	0.40476	1.03	5.86	-3.02	0.05446	.	0.454073	0.26971	N	0.021567	T	0.14570	0.0352	N	0.10916	0.065	0.19945	N	0.999946	B	0.02656	0.0	B	0.01281	0.0	T	0.15235	-1.0444	10	0.13853	T	0.58	.	2.9903	0.05981	0.0991:0.3531:0.1847:0.3631	.	521	Q9H501	ESF1_HUMAN	I	521	ENSP00000202816:M521I	ENSP00000202816:M521I	M	-	3	0	ESF1	13695527	0.010000	0.17322	0.439000	0.26833	0.342000	0.28953	-1.144000	0.03197	-0.442000	0.07190	-0.302000	0.09304	ATG		PASS	0.378	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		46	207	46	207	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25439107	25439107	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:25439107C>T	ENST00000278886.6	-	22	3828	c.3755G>A	c.(3754-3756)cGg>cAg	p.R1252Q	NINL_ENST00000422516.1_Missense_Mutation_p.R903Q|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1252					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R1252Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGCACCAGCCGGACCTCCTG	0.677																																						uc002wux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3754-3756)CGG>CAG		ninein-like							25.0	23.0	24.0					20																	25439107		2202	4299	6501	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25439107C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3755G>A	20.37:g.25439107C>T	ENSP00000278886:p.Arg1252Gln					NINL_uc010gdn.1_Missense_Mutation_p.R903Q|NINL_uc002wuw.1_Missense_Mutation_p.R43Q	p.R1252Q	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			22	3829	-			1252			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3755G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	6.783	0.513421	0.12944	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.28069	1.98;1.63	2.76	-5.53	0.02552	.	2.223100	0.02428	N	0.083307	T	0.08268	0.0206	N	0.00841	-1.15	0.09310	N	1	B;B;B	0.22003	0.002;0.063;0.002	B;B;B	0.13407	0.001;0.009;0.001	T	0.16453	-1.0402	10	0.15952	T	0.53	-3.2151	4.926	0.13894	0.3084:0.4753:0.0:0.2163	.	903;1252;43	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	Q	1252;903	ENSP00000278886:R1252Q;ENSP00000410431:R903Q	ENSP00000278886:R1252Q	R	-	2	0	NINL	25387107	0.000000	0.05858	0.000000	0.03702	0.281000	0.26958	-0.839000	0.04368	-1.393000	0.02079	0.393000	0.25936	CGG		PASS	0.677	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		17	48	17	48	---	---	---	---
MYLK2	85366	broad.mit.edu	37	20	30409369	30409370	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:30409369_30409370GC>CT	ENST00000375994.2	+	3	874_875	c.601_602GC>CT	c.(601-603)GCa>CTa	p.A201L	MYLK2_ENST00000375985.4_Missense_Mutation_p.A201L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	201					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.A201P(1)|p.A201L(1)|p.A201V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAACATCCTGGCAGAGAGCCAG	0.604																																						uc002wwq.2																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(601-603)GCA>CCA|c.(601-603)GCA>GTA		skeletal myosin light chain kinase																																				SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409369G>C|g.chr20:30409370C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	Exception_encountered	20.37:g.30409369_30409370delinsCT	ENSP00000365162:p.Ala201Leu						p.A201P|p.A201V	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	703|704	+			201					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.601G>C|c.602C>T	CCDS13191.1																																																																																				PASS	0.604	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		47	153|156	47	153	---	---	---	---
CDK5RAP1	51654	broad.mit.edu	37	20	31984835	31984835	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:31984835C>A	ENST00000357886.4	-	2	189	c.36G>T	c.(34-36)agG>agT	p.R12S	CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R12S|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R12S|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R12S|CDK5RAP1_ENST00000473997.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	12					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.R12S(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						ACCCCAGAGACCTCTGCACTT	0.522																																						uc010gek.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(34-36)AGG>AGT		CDK5 regulatory subunit associated protein 1							84.0	77.0	79.0					20																	31984835		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31984835C>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.36G>T	20.37:g.31984835C>A	ENSP00000350558:p.Arg12Ser					CDK5RAP1_uc002wyy.2_Intron|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.R12S|CDK5RAP1_uc002wza.2_Missense_Mutation_p.R12S|CDK5RAP1_uc010gel.2_Intron|CDK5RAP1_uc010gem.2_Missense_Mutation_p.R12S|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R12S|CDK5RAP1_uc010gen.2_Missense_Mutation_p.R12S	p.R12S	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			2	160	-			12					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.36G>T		.	.	.	.	.	.	.	.	.	.	C	9.974	1.226350	0.22542	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.17	2.18	0.27775	.	0.390356	0.23983	N	0.042643	T	0.30696	0.0773	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.19200	0.008;0.034;0.02;0.008;0.008;0.013	B;B;B;B;B;B	0.21917	0.016;0.025;0.024;0.016;0.016;0.037	T	0.27262	-1.0079	9	0.72032	D	0.01	-1.7829	7.1421	0.25562	0.0:0.7347:0.1554:0.1099	.	12;12;12;12;12;12	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3	.;.;CK5P1_HUMAN;.;.;.	S	12	.	ENSP00000341840:R12S	R	-	3	2	CDK5RAP1	31448496	0.000000	0.05858	0.011000	0.14972	0.417000	0.31264	-0.057000	0.11768	0.340000	0.23745	0.491000	0.48974	AGG		PASS	0.522	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		118	93	118	93	---	---	---	---
PXMP4	11264	broad.mit.edu	37	20	32302479	32302480	+	Splice_Site	DNP	CC	CC	AA			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:32302479_32302480CC>AA	ENST00000409299.3	-	2	268_269	c.176_177GG>TT	c.(175-177)aGG>aTT	p.R59I	PXMP4_ENST00000344022.3_Splice_Site_p.R59I|PXMP4_ENST00000217398.3_Splice_Site_p.R59I	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	59						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.?(2)|p.S59I(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGGATGTGTACCTGCCATTCCG	0.52																																						uc002wzv.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)		0						c.e2+1|c.(175-177)AGC>ATC		peroxisomal membrane protein 4 isoform a																																				SO:0001630	splice_region_variant	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32302479C>A|g.chr20:32302480C>A	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.176_177delinsAA	20.37:g.32302479_32302480delinsAA						PXMP4_uc002wzw.2_Splice_Site_p.R59_splice|PXMP4_uc010zuh.1_Splice_Site_p.R59_splice|PXMP4_uc002wzw.2_Missense_Mutation_p.R59I|PXMP4_uc010zuh.1_Missense_Mutation_p.R59M	p.S59_splice|p.S59I	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN			2	299	-			|59					A2A2I7|Q9H0T4	Splice_Site|Missense_Mutation	SNP	ENST00000409299.3	37	c.176_splice|c.176G>T	CCDS13225.1																																																																																				PASS	0.520	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238	Missense_Mutation	91|92	241|251	91	241	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41385101	41385102	+	Splice_Site	DNP	CC	CC	AA			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:41385101_41385102CC>AA	ENST00000373187.1	-	6	858_859	c.859_860GG>TT	c.(859-861)GGg>TTg	p.G287L	PTPRT_ENST00000373201.1_Splice_Site_p.G287L|PTPRT_ENST00000373184.1_Splice_Site_p.G287L|PTPRT_ENST00000373198.4_Splice_Site_p.G287L|PTPRT_ENST00000373190.1_Splice_Site_p.G287L|PTPRT_ENST00000373193.3_Splice_Site_p.G287L|PTPRT_ENST00000356100.2_Splice_Site_p.G287L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	287					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.?(2)|p.E287K(1)|p.E287*(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGGCACTCACCTTTCACGATC	0.564																																						uc002xkg.2																			4	Unknown(2)|Substitution - Nonsense(1)|Substitution - Missense(1)		lung(4)	skin(8)|ovary(7)|lung(5)	20						c.e6+1|c.(859-861)GAG>TAG		protein tyrosine phosphatase, receptor type, T																																				SO:0001630	splice_region_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41385101C>A|g.chr20:41385102C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.859_860delinsAA	20.37:g.41385101_41385102delinsAA						PTPRT_uc010ggj.2_Splice_Site_p.E287_splice|PTPRT_uc010ggj.2_Nonsense_Mutation_p.E287*	p.E287_splice|p.E287*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			6	1043	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	|287			|Extracellular (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Splice_Site|Nonsense_Mutation	SNP	ENST00000373187.1	37	c.859_splice|c.859G>T	CCDS42874.1																																																																																				PASS	0.564	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		Missense_Mutation	11|12	57	11	57	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50139876	50139876	+	Missense_Mutation	SNP	C	C	A	rs61735418	byFrequency	TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:50139876C>A	ENST00000396009.3	-	2	1123	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	NFATC2_ENST00000414705.1_Missense_Mutation_p.V282L|NFATC2_ENST00000609943.1_Missense_Mutation_p.V282L|NFATC2_ENST00000371564.3_Missense_Mutation_p.V302L|NFATC2_ENST00000610033.1_Missense_Mutation_p.V83L|NFATC2_ENST00000609507.1_Missense_Mutation_p.V83L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	302					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V302L(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCCATGATCACGGCAGAGCCA	0.701													C|||	8	0.00159744	0.0061	0.0	5008	,	,		11978	0.0		0.0	False		,,,				2504	0.0					uc002xwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(904-906)GTG>TTG		nuclear factor of activated T-cells,		C	LEU/VAL,LEU/VAL,LEU/VAL	26,4324		0,26,2149	9.0	13.0	12.0		844,904,904	0.3	1.0	20	dbSNP_129	12	0,8528		0,0,4264	yes	missense,missense,missense	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	32,32,32	0,26,6413	AA,AC,CC		0.0,0.5977,0.2019	benign,benign,benign	282/902,302/922,302/926	50139876	26,12852	2175	4264	6439	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139876C>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.904G>T	20.37:g.50139876C>A	ENSP00000379330:p.Val302Leu					NFATC2_uc002xwc.2_Missense_Mutation_p.V302L|NFATC2_uc010zyv.1_Missense_Mutation_p.V83L|NFATC2_uc010zyw.1_Missense_Mutation_p.V83L|NFATC2_uc010zyx.1_Missense_Mutation_p.V282L|NFATC2_uc010zyy.1_Missense_Mutation_p.V83L|NFATC2_uc010zyz.1_Missense_Mutation_p.V83L|NFATC2_uc002xwe.2_Missense_Mutation_p.V282L	p.V302L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	1124	-	Hepatocellular(150;0.248)		302					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.904G>T	CCDS13437.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.721	0.697242	0.15106	0.005977	0.0	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.13538	2.59;2.59;2.58	4.69	0.271	0.15640	.	0.608035	0.15474	N	0.260442	T	0.04182	0.0116	N	0.12182	0.205	0.09310	N	0.999996	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.002;0.003;0.003;0.002	T	0.32428	-0.9907	10	0.39692	T	0.17	-10.0874	5.0195	0.14354	0.0:0.294:0.1783:0.5276	.	282;282;302;302	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	302;302;83;282	ENSP00000360619:V302L;ENSP00000379330:V302L;ENSP00000396471:V282L	ENSP00000360619:V302L	V	-	1	0	NFATC2	49573283	0.048000	0.20356	0.992000	0.48379	0.756000	0.42949	0.679000	0.25291	0.210000	0.20664	0.305000	0.20034	GTG		PASS	0.701	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		8	15	8	15	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52645090	52645090	+	Silent	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:52645090G>A	ENST00000395961.3	-	4	730	c.564C>T	c.(562-564)ccC>ccT	p.P188P	BCAS1_ENST00000371435.2_Silent_p.P188P|BCAS1_ENST00000371440.3_Silent_p.P188P|BCAS1_ENST00000411563.1_Silent_p.P91P	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	188						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P188P(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGAGTCCTTGGGCTTGGAGG	0.592																																						uc002xws.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(562-564)CCC>CCT		breast carcinoma amplified sequence 1							126.0	128.0	128.0					20																	52645090		2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52645090G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.564C>T	20.37:g.52645090G>A						BCAS1_uc010zzb.1_Silent_p.P91P|BCAS1_uc010gim.2_Silent_p.P91P|BCAS1_uc002xwt.2_Silent_p.P188P|BCAS1_uc010gil.1_Silent_p.P188P|BCAS1_uc010zzc.1_Silent_p.P91P	p.P188P	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	902	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		188					A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	c.564C>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	7.595	0.671576	0.14776	.	.	ENSG00000064787	ENST00000448710	.	.	.	5.11	-0.636	0.11508	.	0.702682	0.13949	N	0.351687	T	0.58250	0.2109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56968	-0.7891	6	0.72032	D	0.01	-0.5487	4.9396	0.13958	0.4156:0.0:0.4481:0.1363	.	.	.	.	L	67	.	ENSP00000414174:P67L	P	-	2	0	BCAS1	52078497	0.182000	0.23173	0.783000	0.31826	0.638000	0.38207	-0.321000	0.08018	-0.291000	0.09012	-0.222000	0.12452	CCA		PASS	0.592	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		198	296	198	296	---	---	---	---
OPRL1	4987	broad.mit.edu	37	20	62724080	62724080	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:62724080C>A	ENST00000349451.3	+	4	419	c.7C>A	c.(7-9)Ccc>Acc	p.P3T	OPRL1_ENST00000336866.2_Missense_Mutation_p.P3T|OPRL1_ENST00000355631.4_Missense_Mutation_p.P3T	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	3					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.P3T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGGCATGGAGCCCCTCTTCCC	0.637																																						uc002yic.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(7-9)CCC>ACC		opiate receptor-like 1							59.0	57.0	57.0					20																	62724080		2198	4291	6489	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62724080C>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.7C>A	20.37:g.62724080C>A	ENSP00000336764:p.Pro3Thr					OPRL1_uc002yid.2_Missense_Mutation_p.P3T|OPRL1_uc002yif.3_Missense_Mutation_p.P3T	p.P3T	NM_182647	NP_872588	P41146	OPRX_HUMAN			3	409	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		3			Extracellular (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.7C>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	5.247	0.231084	0.09969	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.62639	0.01;0.01;0.01	3.9	-0.0702	0.13748	.	0.471937	0.15025	U	0.284819	T	0.37183	0.0994	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.14023	0.01;0.004	T	0.27123	-1.0083	10	0.59425	D	0.04	.	7.5078	0.27555	0.0:0.5928:0.0:0.4072	.	3;3	P41146-2;P41146	.;OPRX_HUMAN	T	3	ENSP00000336843:P3T;ENSP00000347848:P3T;ENSP00000336764:P3T	ENSP00000336843:P3T	P	+	1	0	OPRL1	62194524	0.016000	0.18221	0.971000	0.41717	0.080000	0.17528	0.080000	0.14802	0.016000	0.14998	-0.401000	0.06369	CCC		PASS	0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		97	68	97	68	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28327120	28327120	+	Missense_Mutation	SNP	C	C	A	rs562532375		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr21:28327120C>A	ENST00000284987.5	-	2	1296	c.1175G>T	c.(1174-1176)cGc>cTc	p.R392L	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	392	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R392L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGCACAGCTGCGCTCTGGAGA	0.493																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1174-1176)CGC>CTC		ADAM metallopeptidase with thrombospondin type 1							109.0	98.0	102.0					21																	28327120		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28327120C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1175G>T	21.37:g.28327120C>A	ENSP00000284987:p.Arg392Leu						p.R392L	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			2	1904	-			392			Peptidase M12B.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1175G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732096	0.89390	.	.	ENSG00000154736	ENST00000284987	D	0.87256	-2.23	5.05	4.16	0.48862	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.055575	0.64402	N	0.000001	D	0.86310	0.5902	M	0.81341	2.54	0.58432	D	0.999998	P	0.35908	0.527	B	0.29440	0.102	D	0.87153	0.2210	10	0.62326	D	0.03	.	14.9971	0.71439	0.1435:0.8565:0.0:0.0	.	392	Q9UNA0	ATS5_HUMAN	L	392	ENSP00000284987:R392L	ENSP00000284987:R392L	R	-	2	0	ADAMTS5	27248991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	1.354000	0.45846	0.557000	0.71058	CGC		PASS	0.493	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			33	75	33	75	---	---	---	---
SON	6651	broad.mit.edu	37	21	34931601	34931601	+	Silent	SNP	G	G	A	rs552052844		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr21:34931601G>A	ENST00000356577.4	+	5	6862	c.6387G>A	c.(6385-6387)tcG>tcA	p.S2129S	SON_ENST00000300278.4_Silent_p.S2129S|SON_ENST00000290239.6_Silent_p.S2129S|SON_ENST00000381692.2_Silent_p.S157S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2129					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S2129S(4)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTCATGTTTCGGATGAAGAGG	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		18469	0.0		0.0	False		,,,				2504	0.001					uc002yse.1																			4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(4)|skin(2)	6						c.(6385-6387)TCG>TCA		SON DNA-binding protein isoform F							142.0	141.0	141.0					21																	34931601		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34931601G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6387G>A	21.37:g.34931601G>A						SON_uc002ysc.2_Silent_p.S2129S|SON_uc002ysd.2_Silent_p.S1120S|SON_uc002ysf.1_Silent_p.S157S|SON_uc002ysg.2_Silent_p.S1120S	p.S2129S	NM_138927	NP_620305	P18583	SON_HUMAN			5	6436	+			2129					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.6387G>A	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	2.477	-0.320521	0.05386	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.4	1.6	0.23607	.	.	.	.	.	T	0.50990	0.1648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	4.4397	0.11568	0.3129:0.0:0.4593:0.2278	.	.	.	.	Q	1124	.	.	R	+	2	0	SON	33853471	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.842000	0.27627	0.087000	0.17167	-0.142000	0.14014	CGG		PASS	0.313	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		66	123	66	123	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46021444	46021444	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr21:46021444G>T	ENST00000380102.2	+	1	948	c.923G>T	c.(922-924)tGc>tTc	p.C308F	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	308	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						ACCTCCTGCTGCAGACCCTCC	0.672																																						uc002zfn.3																			0					0						c.(907-909)TGC>TTC		keratin associated protein 10-7							76.0	68.0	71.0					21																	46021444		2203	4277	6480	SO:0001583	missense	386675					keratin filament		g.chr21:46021444G>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.923G>T	21.37:g.46021444G>T	ENSP00000369445:p.Cys308Phe					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C303F	NM_198689	NP_941962	P60409	KR107_HUMAN			2	933	+			308			27.|30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.908G>T		.	.	.	.	.	.	.	.	.	.	g	12.34	1.909291	0.33721	.	.	ENSG00000205441	ENST00000380102	T	0.02606	4.23	3.89	3.89	0.44902	.	.	.	.	.	T	0.18593	0.0446	H	0.94183	3.505	0.35943	D	0.833358	D	0.71674	0.998	D	0.78314	0.991	T	0.11131	-1.0600	9	0.59425	D	0.04	.	7.7595	0.28944	0.1188:0.0:0.8811:0.0	.	303	P60409-2	.	F	308	ENSP00000369445:C308F	ENSP00000369445:C308F	C	+	2	0	KRTAP10-7	44845872	0.954000	0.32549	0.989000	0.46669	0.721000	0.41392	1.296000	0.33389	1.886000	0.54624	0.467000	0.42956	TGC		PASS	0.672	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		129	48	129	48	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47971581	47971581	+	Silent	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr21:47971581G>T	ENST00000417564.2	+	24	2895	c.2874G>T	c.(2872-2874)ctG>ctT	p.L958L	DIP2A_ENST00000427143.2_Silent_p.L894L|DIP2A_ENST00000318711.7_Silent_p.L959L|DIP2A_ENST00000400274.1_Silent_p.L954L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	958					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.L894L(1)|p.L959L(1)|p.L958L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGGGGAACCTGGTTGCTGGGA	0.552																																						uc002zjo.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(2872-2874)CTG>CTT		disco-interacting protein 2A isoform a							34.0	36.0	36.0					21																	47971581		1991	4190	6181	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47971581G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2874G>T	21.37:g.47971581G>T						DIP2A_uc011afy.1_Silent_p.L894L|DIP2A_uc011afz.1_Silent_p.L954L	p.L958L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	24	3057	+	Breast(49;0.0933)		958					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.2874G>T	CCDS46655.1																																																																																				PASS	0.552	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		30	54	30	54	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17072642	17072642	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr22:17072642G>C	ENST00000359963.3	-	1	1058	c.799C>G	c.(799-801)Cta>Gta	p.L267V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	267					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.L267V(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AATTGAGCTAGATCAGCAGGA	0.512																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(799-801)CTA>GTA		T-complex protein 1							117.0	111.0	113.0					22																	17072642		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072642G>C	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.799C>G	22.37:g.17072642G>C	ENSP00000353048:p.Leu267Val						p.L267V	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1059	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	267					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.799C>G	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	12.02	1.811234	0.32053	.	.	ENSG00000198445	ENST00000359963	T	0.80653	-1.4	1.98	0.925	0.19424	.	0.000000	0.28600	U	0.014772	D	0.84252	0.5431	M	0.79011	2.435	0.09310	N	1	D	0.54397	0.966	P	0.62014	0.897	T	0.72164	-0.4373	10	0.62326	D	0.03	-8.3186	3.8629	0.09004	0.2309:0.0:0.7691:0.0	.	267	Q96SF2	TCPQM_HUMAN	V	267	ENSP00000353048:L267V	ENSP00000353048:L267V	L	-	1	2	CCT8L2	15452642	0.861000	0.29849	0.010000	0.14722	0.021000	0.10359	1.105000	0.31086	1.115000	0.41800	0.379000	0.24179	CTA		PASS	0.512	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			91	159	91	159	---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17579730	17579730	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr22:17579730T>A	ENST00000319363.6	+	4	509	c.376T>A	c.(376-378)Tgc>Agc	p.C126S	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	126					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.C126S(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGAACGTTTGTGCGTCAGGTT	0.507																																						uc002zly.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(376-378)TGC>AGC		interleukin 17A receptor precursor							175.0	137.0	150.0					22																	17579730		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17579730T>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.376T>A	22.37:g.17579730T>A	ENSP00000320936:p.Cys126Ser					IL17RA_uc010gqt.2_Missense_Mutation_p.C126S	p.C126S	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	4	509	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	126			Extracellular (Potential).		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.376T>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869713	0.72065	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.00507	6.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.01695	0.0054	M	0.70275	2.135	0.49130	D	0.999756	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.62464	-0.6849	10	0.87932	D	0	-18.6611	13.8236	0.63338	0.0:0.0:0.0:1.0	.	126;126	D3YTB4;Q96F46	.;I17RA_HUMAN	S	126	ENSP00000320936:C126S	ENSP00000320936:C126S	C	+	1	0	IL17RA	15959730	1.000000	0.71417	0.998000	0.56505	0.412000	0.31113	4.175000	0.58263	2.288000	0.76882	0.533000	0.62120	TGC		PASS	0.507	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		27	78	27	78	---	---	---	---
IGLV5-45	28781	broad.mit.edu	37	22	22730834	22730834	+	RNA	SNP	A	A	G	rs571507588		TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr22:22730834A>G	ENST00000390296.2	+	0	357									immunoglobulin lambda variable 5-45																		TCTGAGGATGAGGCTGACTAT	0.537													A|||	1	0.000199681	0.0	0.0	5008	,	,		16878	0.001		0.0	False		,,,				2504	0.0					uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							140.0	134.0	136.0					22																	22730834		1924	4139	6063			96610							g.chr22:22730834A>G	Z73670		22q11.2	2012-02-08			ENSG00000211650	ENSG00000211650		"""Immunoglobulins / IGL locus"""	5924	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151054		22.37:g.22730834A>G														44		+									RNA	SNP	ENST00000390296.2	37	c.5001A>G																																																																																					PASS	0.537	IGLV5-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321114.2	NG_000002		91	206	91	206	---	---	---	---
IGLV5-37	28783	broad.mit.edu	37	22	22782255	22782255	+	RNA	SNP	A	A	C			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr22:22782255A>C	ENST00000390300.2	+	0	258									immunoglobulin lambda variable 5-37																		TGGAGTCCCCAGCCGCTTCTC	0.512																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							72.0	72.0	72.0					22																	22782255		1849	4096	5945			96610							g.chr22:22782255A>C	Z73672		22q11.2	2012-02-08			ENSG00000211654	ENSG00000211654		"""Immunoglobulins / IGL locus"""	5922	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151069		22.37:g.22782255A>C														63		+									RNA	SNP	ENST00000390300.2	37	c.6547A>C																																																																																					PASS	0.512	IGLV5-37-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321173.1	NG_000002		56	105	56	105	---	---	---	---
FAM19A5	25817	broad.mit.edu	37	22	49103557	49103557	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr22:49103557T>A	ENST00000402357.1	+	3	424	c.291T>A	c.(289-291)tgT>tgA	p.C97*	FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000358295.5_Nonsense_Mutation_p.C90*|FAM19A5_ENST00000406880.1_Nonsense_Mutation_p.C18*	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	97						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.C90*(1)|p.C97*(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AGCAGTGGTGTGACATGCTTC	0.572																																						uc003bim.3																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)	1						c.(289-291)TGT>TGA		family with sequence similarity 19 (chemokine							74.0	82.0	79.0					22																	49103557		2147	4249	6396	SO:0001587	stop_gained	25817					extracellular region|integral to membrane		g.chr22:49103557T>A	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.291T>A	22.37:g.49103557T>A	ENSP00000383933:p.Cys97*					FAM19A5_uc003bio.3_Nonsense_Mutation_p.C90*	p.C97*	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	3	408	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	97					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Nonsense_Mutation	SNP	ENST00000402357.1	37	c.291T>A	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	T	37	6.117142	0.97296	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295;ENST00000406880	.	.	.	4.21	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.3619	0.26752	0.0:0.1083:0.0:0.8917	.	.	.	.	X	97;97;90;18	.	ENSP00000336812:C97X	C	+	3	2	FAM19A5	47489563	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.570000	0.36439	1.681000	0.50988	0.456000	0.33151	TGT		PASS	0.572	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		29	62	29	62	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5821721	5821721	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:5821721G>T	ENST00000381095.3	-	5	1625	c.998C>A	c.(997-999)cCg>cAg	p.P333Q	NLGN4X_ENST00000275857.6_Missense_Mutation_p.P333Q|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P353Q|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P333Q|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P333Q	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	333					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.P333Q(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTAGGTGGCCGGGGTGATGGT	0.587																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(997-999)CCG>CAG		X-linked neuroligin 4 precursor							186.0	127.0	147.0					X																	5821721		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821721G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.998C>A	X.37:g.5821721G>T	ENSP00000370485:p.Pro333Gln					NLGN4X_uc004crp.2_Missense_Mutation_p.P353Q|NLGN4X_uc004crq.2_Missense_Mutation_p.P333Q|NLGN4X_uc010ndi.2_Missense_Mutation_p.P370Q|NLGN4X_uc004crr.2_Missense_Mutation_p.P333Q|NLGN4X_uc010ndj.2_Missense_Mutation_p.P333Q	p.P333Q	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1499	-			333			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.998C>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674791	0.29783	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.67859	0.2938	M	0.78285	2.405	0.58432	D	0.999995	B;P;B	0.38110	0.087;0.618;0.125	B;B;B	0.38156	0.142;0.266;0.049	T	0.70722	-0.4794	8	.	.	.	.	14.4947	0.67678	0.0:0.0:1.0:0.0	.	390;333;353	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	Q	333;353;333;333;333	ENSP00000370485:P333Q;ENSP00000370483:P353Q;ENSP00000275857:P333Q;ENSP00000370482:P333Q;ENSP00000439203:P333Q	.	P	-	2	0	NLGN4X	5831721	1.000000	0.71417	0.811000	0.32455	0.416000	0.31233	6.510000	0.73729	1.579000	0.49836	0.600000	0.82982	CCG		PASS	0.587	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		145	37	145	37	---	---	---	---
HDHD1	8226	broad.mit.edu	37	X	6995377	6995377	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:6995377T>A	ENST00000381077.5	-	3	470	c.394A>T	c.(394-396)Agc>Tgc	p.S132C	HDHD1_ENST00000412827.2_Missense_Mutation_p.S89C|HDHD1_ENST00000540122.1_Missense_Mutation_p.S132C|HDHD1_ENST00000424830.2_Missense_Mutation_p.S155C	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	132					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)	p.S118C(1)		breast(2)|large_intestine(1)|lung(3)	6						GAAAACAAGCTGAAGAACTCC	0.572																																						uc004crv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)AGC>TGC		haloacid dehalogenase-like hydrolase domain																																				SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:6995377T>A	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.394A>T	X.37:g.6995377T>A	ENSP00000370467:p.Ser132Cys					HDHD1A_uc011mhm.1_Missense_Mutation_p.S155C|HDHD1A_uc011mhn.1_Missense_Mutation_p.S89C|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Missense_Mutation_p.S132C	p.S132C	NM_012080	NP_036212	Q08623	HDHD1_HUMAN			3	471	-		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)	132					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.394A>T	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955169	0.53293	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	3.88	-4.78	0.03209	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.557218	0.20872	N	0.084159	T	0.44623	0.1302	M	0.83774	2.66	0.09310	N	1	D;D;D;D	0.89917	1.0;0.98;0.991;0.983	P;P;D;P	0.64506	0.884;0.831;0.926;0.817	T	0.36163	-0.9759	10	0.66056	D	0.02	-3.2384	4.7818	0.13206	0.0:0.2638:0.2813:0.4549	.	132;89;155;132	Q08623-3;Q08623-2;E9PAV8;Q08623	.;.;.;HDHD1_HUMAN	C	132;148;89;155;132;132	ENSP00000370467:S132C;ENSP00000406260:S89C;ENSP00000396452:S155C;ENSP00000441208:S132C;ENSP00000430995:S132C	ENSP00000370467:S132C	S	-	1	0	HDHD1	7005377	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.207000	0.09384	-1.385000	0.02101	-0.438000	0.05819	AGC		PASS	0.572	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		14	2	14	2	---	---	---	---
FTHL17	53940	broad.mit.edu	37	X	31089712	31089712	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:31089712T>A	ENST00000359202.3	-	1	458	c.359A>T	c.(358-360)cAg>cTg	p.Q120L		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	120	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.		Q -> H (in dbSNP:rs16989319).		cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.Q120L(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CACGGCCAGCTGGTACAGATC	0.617																																						uc004dcl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(358-360)CAG>CTG		ferritin, heavy polypeptide-like 17							76.0	62.0	67.0					X																	31089712		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089712T>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.359A>T	X.37:g.31089712T>A	ENSP00000368207:p.Gln120Leu						p.Q120L	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	462	-			120			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.359A>T	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.779020	0.31502	.	.	ENSG00000132446	ENST00000359202	T	0.63913	-0.07	3.62	-3.53	0.04667	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	1.057150	0.07420	N	0.893790	T	0.62368	0.2422	M	0.78049	2.395	0.09310	N	1	B	0.32382	0.368	B	0.35353	0.201	T	0.60219	-0.7306	10	0.72032	D	0.01	.	10.0497	0.42208	0.0:0.5367:0.0:0.4633	.	120	Q9BXU8	FHL17_HUMAN	L	120	ENSP00000368207:Q120L	ENSP00000368207:Q120L	Q	-	2	0	FTHL17	30999633	0.698000	0.27777	0.000000	0.03702	0.007000	0.05969	0.959000	0.29240	-0.914000	0.03827	-0.377000	0.06932	CAG		PASS	0.617	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		111	29	111	29	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32583829	32583829	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:32583829C>G	ENST00000357033.4	-	16	2188	c.1982G>C	c.(1981-1983)aGt>aCt	p.S661T	DMD_ENST00000378677.2_Missense_Mutation_p.S657T|DMD_ENST00000288447.4_Missense_Mutation_p.S653T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	661					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.S657T(1)|p.S656T(1)|p.S661T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGTGCTGTACTCTTTTCAAG	0.388																																						uc004dda.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1981-1983)AGT>ACT		dystrophin Dp427m isoform							113.0	101.0	105.0					X																	32583829		2202	4299	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32583829C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1982G>C	X.37:g.32583829C>G	ENSP00000354923:p.Ser661Thr					DMD_uc004dcz.2_Missense_Mutation_p.S538T|DMD_uc004dcy.1_Missense_Mutation_p.S657T|DMD_uc004ddb.1_Missense_Mutation_p.S653T|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.S653T	p.S661T	NM_004006	NP_003997	P11532	DMD_HUMAN			16	2226	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	661			Spectrin 3.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1982G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	0.526	-0.859831	0.02610	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.72394	0.12;0.12;-0.65	5.28	4.41	0.53225	.	0.560460	0.14327	U	0.326616	T	0.57533	0.2060	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.14012	0.0;0.009;0.0;0.005	B;B;B;B	0.10450	0.001;0.005;0.001;0.002	T	0.50406	-0.8832	10	0.32370	T	0.25	.	8.0431	0.30534	0.0:0.6142:0.2973:0.0885	.	653;653;661;657	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	T	653;657;661;661;538;653	ENSP00000367948:S657T;ENSP00000354923:S661T;ENSP00000288447:S653T	ENSP00000288447:S653T	S	-	2	0	DMD	32493750	0.933000	0.31639	0.993000	0.49108	0.011000	0.07611	0.147000	0.16202	1.120000	0.41904	-0.322000	0.08575	AGT		PASS	0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		103	39	103	39	---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35985769	35985769	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:35985769A>T	ENST00000297866.5	+	10	1700	c.1634A>T	c.(1633-1635)aAg>aTg	p.K545M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	545								p.K545M(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCCACGGGAAAGTTTGTGGTC	0.363																																						uc004ddj.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1633-1635)AAG>ATG		hypothetical protein LOC170063							115.0	97.0	103.0					X																	35985769		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35985769A>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1634A>T	X.37:g.35985769A>T	ENSP00000297866:p.Lys545Met					CXorf22_uc010ngv.2_RNA	p.K545M	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			10	1693	+			545					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1634A>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459560	0.26248	.	.	ENSG00000165164	ENST00000297866	T	0.14391	2.51	5.35	2.94	0.34122	.	1.201240	0.05773	N	0.607137	T	0.09598	0.0236	N	0.22421	0.69	0.09310	N	0.999998	P	0.44946	0.846	B	0.37198	0.243	T	0.32929	-0.9888	10	0.33141	T	0.24	-24.7234	7.4303	0.27124	0.8152:0.0:0.1848:0.0	.	545	Q6ZTR5	CX022_HUMAN	M	545	ENSP00000297866:K545M	ENSP00000297866:K545M	K	+	2	0	CXorf22	35895690	0.489000	0.26004	0.004000	0.12327	0.002000	0.02628	0.793000	0.26944	0.209000	0.20645	0.486000	0.48141	AAG		PASS	0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		74	21	74	21	---	---	---	---
CASK	8573	broad.mit.edu	37	X	41495833	41495834	+	Nonsense_Mutation	DNP	TT	TT	AG			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:41495833_41495834TT>AG	ENST00000378163.1	-	9	1386_1387	c.912_913AA>CT	c.(910-915)ctAAag>ctCTag	p.K305*	CASK_ENST00000378158.1_Nonsense_Mutation_p.K305*|CASK_ENST00000378166.4_Nonsense_Mutation_p.K305*|CASK_ENST00000318588.9_Nonsense_Mutation_p.K305*|CASK_ENST00000378154.1_Nonsense_Mutation_p.K305*|RN7SL406P_ENST00000582021.1_RNA|CASK_ENST00000442742.2_Nonsense_Mutation_p.K305*|CASK_ENST00000361962.4_Nonsense_Mutation_p.K305*|CASK_ENST00000421587.2_Nonsense_Mutation_p.K305*			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	305	Calmodulin-binding.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.K305*(2)|p.L304L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TAATTTACCTTTAGTTTCCTCC	0.356																																					NSCLC(42;104 1086 3090 27189 35040)	uc004dfl.3																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|lung(2)|stomach(1)	6						c.(913-915)AAG>TAG|c.(910-912)CTA>CTC		calcium/calmodulin-dependent serine protein																																				SO:0001587	stop_gained	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41495833T>A|g.chrX:41495834T>G	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.912_913delinsAG	X.37:g.41495833_41495834delinsAG	ENSP00000367405:p.Lys305*					CASK_uc004dfk.3_Nonsense_Mutation_p.K120*|CASK_uc004dfm.3_Nonsense_Mutation_p.K305*|CASK_uc004dfn.3_Nonsense_Mutation_p.K305*|CASK_uc004dfk.3_Silent_p.L119L|CASK_uc004dfm.3_Silent_p.L304L|CASK_uc004dfn.3_Silent_p.L304L	p.K305*|p.L304L	NM_003688	NP_003679	O14936	CSKP_HUMAN			9	959|958	-			305|304			Calmodulin-binding.|		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Nonsense_Mutation|Silent	SNP	ENST00000378163.1	37	c.913A>T|c.912A>C																																																																																					PASS	0.356	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		57|59	90	57	90	---	---	---	---
SUV39H1	6839	broad.mit.edu	37	X	48558930	48558930	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:48558930A>G	ENST00000376687.3	+	3	804	c.614A>G	c.(613-615)tAc>tGc	p.Y205C	SUV39H1_ENST00000337852.6_Missense_Mutation_p.Y216C|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Intron	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	205	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.Y205C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AAGTTTGCCTACAATGACCAG	0.642																																						uc004dkn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)TAC>TGC		suppressor of variegation 3-9 homolog 1							55.0	47.0	49.0					X																	48558930		2203	4299	6502	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48558930A>G	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.614A>G	X.37:g.48558930A>G	ENSP00000365877:p.Tyr205Cys					SUV39H1_uc011mmf.1_Missense_Mutation_p.Y216C|SUV39H1_uc011mmg.1_Intron	p.Y205C	NM_003173	NP_003164	O43463	SUV91_HUMAN			3	659	+			205			Pre-SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.614A>G	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.67|19.67	3.871207|3.871207	0.72065|0.72065	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000448548|ENST00000337852;ENST00000376687;ENST00000422496	.|D;D	.|0.85411	.|-1.98;-1.98	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93723|0.93723	0.7994|0.7994	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.94702|0.94702	0.7884|0.7884	6|10	0.02654|0.87932	T|D	1|0	.|.	11.7346|11.7346	0.51757|0.51757	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|216;205	.|B4DST0;O43463	.|.;SUV91_HUMAN	A|C	202|216;205;63	.|ENSP00000337976:Y216C;ENSP00000365877:Y205C	ENSP00000410043:T202A|ENSP00000337976:Y216C	T|Y	+|+	1|2	0|0	SUV39H1|SUV39H1	48443874|48443874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	9.297000|9.297000	0.96120|0.96120	1.671000|1.671000	0.50874|0.50874	0.478000|0.478000	0.44815|0.44815	ACA|TAC		PASS	0.642	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		55	17	55	17	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73065376	73065376	+	lincRNA	SNP	G	G	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:73065376G>T	ENST00000429829.1	-	0	7212					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGGCTTTCATGTCTATTACAC	0.478																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							101.0	97.0	98.0					X																	73065376		876	1991	2867			7503							g.chrX:73065376G>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065376G>T								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.7213C>A																																																																																					PASS	0.478	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		126	19	126	19	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	80047436	80047436	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:80047436A>T	ENST00000373275.4	-	6	563	c.347T>A	c.(346-348)cTa>cAa	p.L116Q		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	116					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.L116Q(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCCATTCCATAGTGTACTCTT	0.373																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(346-348)CTA>CAA		bromodomain and WD repeat domain containing 3							48.0	41.0	43.0					X																	80047436		2203	4300	6503	SO:0001583	missense	254065							g.chrX:80047436A>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.347T>A	X.37:g.80047436A>T	ENSP00000362372:p.Leu116Gln					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_5'UTR|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_Intron|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_Intron|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_5'UTR	p.L116Q	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			6	610	-			116			WD 1.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.347T>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.070414	0.36566	.	.	ENSG00000165288	ENST00000373275	T	0.34072	1.38	5.29	5.29	0.74685	.	0.089363	0.47852	D	0.000220	T	0.18800	0.0451	N	0.15975	0.35	0.35162	D	0.770721	B	0.20887	0.049	B	0.14023	0.01	T	0.24119	-1.0169	9	.	.	.	-8.7477	7.079	0.25221	0.8312:0.0:0.1688:0.0	.	116	Q6RI45	BRWD3_HUMAN	Q	116	ENSP00000362372:L116Q	.	L	-	2	0	BRWD3	79934092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.254000	0.65457	1.945000	0.56424	0.477000	0.44152	CTA		PASS	0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		37	4	37	4	---	---	---	---
HDX	139324	broad.mit.edu	37	X	83724271	83724271	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:83724271G>A	ENST00000297977.5	-	3	571	c.460C>T	c.(460-462)Cct>Tct	p.P154S	HDX_ENST00000506585.2_Missense_Mutation_p.P96S|HDX_ENST00000373177.2_Missense_Mutation_p.P154S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	154						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P154S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTTGGACAGGAATGTGTAAC	0.358																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(460-462)CCT>TCT		highly divergent homeobox							232.0	193.0	206.0					X																	83724271		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724271G>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.460C>T	X.37:g.83724271G>A	ENSP00000297977:p.Pro154Ser					HDX_uc011mqv.1_Missense_Mutation_p.P154S|HDX_uc004eel.1_Missense_Mutation_p.P96S	p.P154S	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	569	-			154					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.460C>T	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741942	0.30865	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.50001	1.56;1.51;1.56;0.76	4.9	4.03	0.46877	.	0.239907	0.43579	D	0.000550	T	0.42921	0.1224	M	0.63843	1.955	0.41103	D	0.985681	P	0.42456	0.78	B	0.38106	0.265	T	0.47169	-0.9138	10	0.72032	D	0.01	-6.8329	9.1581	0.37005	0.0823:0.1431:0.7746:0.0	.	154	Q7Z353	HDX_HUMAN	S	154;96;154;96	ENSP00000297977:P154S;ENSP00000362272:P96S;ENSP00000423670:P154S;ENSP00000387790:P96S	ENSP00000297977:P154S	P	-	1	0	HDX	83610927	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.445000	0.52921	1.180000	0.42898	0.513000	0.50165	CCT		PASS	0.358	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		218	47	218	47	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134990721	134990721	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:134990721C>A	ENST00000370709.3	+	11	1386	c.1386C>A	c.(1384-1386)tcC>tcA	p.S462S	SAGE1_ENST00000324447.3_Silent_p.S462S|SAGE1_ENST00000535938.1_Silent_p.S462S|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	462						nucleus (GO:0005634)		p.S462S(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGTTCTATCCGGGCTTATTA	0.403																																						uc004ezh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1384-1386)TCC>TCA		sarcoma antigen 1							157.0	151.0	153.0					X																	134990721		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134990721C>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1386C>A	X.37:g.134990721C>A						SAGE1_uc010nry.1_Silent_p.S431S|SAGE1_uc011mvv.1_Intron	p.S462S	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			12	1553	+	Acute lymphoblastic leukemia(192;0.000127)		462					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.1386C>A	CCDS14652.1																																																																																				PASS	0.403	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		132	41	132	41	---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967238	142967238	+	Silent	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:142967238C>A	ENST00000370494.1	+	1	66	c.36C>A	c.(34-36)acC>acA	p.T12T		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	12						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.T12T(1)|p.Q13K(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGAAACCCAGCGTTTGC	0.468																																						uc004fca.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(34-36)ACC>ACA		ubiquitin-conjugating enzyme E2N-like							64.0	64.0	64.0					X																	142967238		2203	4300	6503	SO:0001819	synonymous_variant	389898						acid-amino acid ligase activity	g.chrX:142967238C>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.36C>A	X.37:g.142967238C>A							p.T12T	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	66	+	Acute lymphoblastic leukemia(192;6.56e-05)		12					E9KL27	Silent	SNP	ENST00000370494.1	37	c.36C>A	CCDS35420.1																																																																																				PASS	0.468	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		9	29	9	29	---	---	---	---
PNCK	139728	broad.mit.edu	37	X	152937080	152937080	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chrX:152937080C>A	ENST00000370150.1	-	6	640	c.462G>T	c.(460-462)atG>atT	p.M154I	PNCK_ENST00000393831.2_Missense_Mutation_p.M154I|PNCK_ENST00000340888.3_Missense_Mutation_p.M154I|PNCK_ENST00000370145.4_Missense_Mutation_p.M171I|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.M154I|PNCK_ENST00000447676.2_Missense_Mutation_p.M237I			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.M154I(1)|p.M171I(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAGAGACCATGATCTTCG	0.592																																						uc011myu.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(709-711)ATG>ATT		pregnancy upregulated non-ubiquitously expressed							132.0	121.0	125.0					X																	152937080		2203	4300	6503	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937080C>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.462G>T	X.37:g.152937080C>A	ENSP00000359169:p.Met154Ile					PNCK_uc011myt.1_Missense_Mutation_p.M171I|PNCK_uc004fia.2_Missense_Mutation_p.M166I|PNCK_uc004fhz.3_Missense_Mutation_p.M52I|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.M181I|PNCK_uc011myw.1_Missense_Mutation_p.M181I	p.M237I	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			6	897	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		154			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.711G>T		.	.	.	.	.	.	.	.	.	.	c	16.90	3.250605	0.59212	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.24547	0.0595	N	0.01751	-0.74	0.52501	D	0.999959	D;P;P;P	0.57571	0.98;0.908;0.925;0.925	D;P;P;P	0.65443	0.935;0.582;0.706;0.706	T	0.52223	-0.8604	10	0.54805	T	0.06	-25.779	15.7536	0.78009	0.0:1.0:0.0:0.0	.	181;237;171;154	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	I	154;154;154;154;171;237;154;154	ENSP00000340586:M154I;ENSP00000359169:M154I;ENSP00000377417:M154I;ENSP00000359161:M154I;ENSP00000359164:M171I;ENSP00000405950:M237I;ENSP00000415770:M154I;ENSP00000391772:M154I	ENSP00000340586:M154I	M	-	3	0	PNCK	152590274	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.531000	0.60602	1.963000	0.57068	0.468000	0.43344	ATG		PASS	0.592	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		127	54	127	54	---	---	---	---
TNFRSF18	8784	broad.mit.edu	37	1	1139493	1139493	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr1:1139493delG	ENST00000379268.2	-	4	641	c.522delC	c.(520-522)gccfs	p.A175fs	TNFRSF18_ENST00000328596.6_Intron|TNFRSF18_ENST00000486728.1_Frame_Shift_Del_p.A103fs|TNFRSF18_ENST00000379265.5_Frame_Shift_Del_p.A175fs	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	175					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGACGCAGGCGGCCACGGCCA	0.677																																					GBM(157;472 1934 13810 14591 35952)	uc001adc.2																			0					0						c.(520-522)GCCfs		tumor necrosis factor receptor superfamily,							22.0	23.0	23.0					1																	1139493		2177	4288	6465	SO:0001589	frameshift_variant	8784				anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1139493delG	AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.522delC	1.37:g.1139493delG	ENSP00000368570:p.Ala175fs					TNFRSF18_uc001ada.2_Frame_Shift_Del_p.A102fs|TNFRSF18_uc001adb.2_Frame_Shift_Del_p.A174fs|TNFRSF18_uc001add.2_Intron	p.A174fs	NM_004195	NP_004186	Q9Y5U5	TNR18_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	660	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	174			Helical; (Potential).		B1AME1|O95851|Q5U0I4|Q9NYJ9	Frame_Shift_Del	DEL	ENST00000379268.2	37	c.522delC	CCDS10.1																																																																																					0.677	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004083.2	NM_004195		12	11	12	11	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-18-4083-01A-01D-1352-08	TCGA-18-4083-11A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b87a82d-096c-4dd7-80c4-b4054fc1eba2	1548ab05-9fc4-4248-919f-0c409375ff14	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	159	Poly-Ala.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768														4335	0.865615	0.8343	0.9395	5008	,	,		8937	0.8065		0.9423	False		,,,				2504	0.8374					uc002wdf.2																			3	Deletion - In frame(3)		prostate(2)|large_intestine(1)		0						c.(460-465)CCGGCG>CCG		zinc finger, CCHC domain containing 3																																				SO:0001651	inframe_deletion	85364						nucleic acid binding|zinc ion binding	g.chr20:278688_278690delCGG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.461_463delCGG	20.37:g.278697_278699delCGG	ENSP00000371789:p.Ala159del					ZCCHC3_uc002wdg.2_Intron	p.A158del	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	485_487	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	158			Poly-Ala.		Q3B7J3|Q6NT79	In_Frame_Del	DEL	ENST00000382352.3	37	c.461_463delCGG	CCDS42844.1																																																																																					0.768	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			4	2	4	2	---	---	---	---
