#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
CFAP74	85452	broad.mit.edu	37	1	1854051	1854051	+	IGR	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:1854051A>T								TMEM52 (3339 upstream) : C1orf222 (65511 downstream)														p.W265R(1)									GGTGGCACCCAGGAGATGCTG	0.637																																						uc001aik.2																			1	Substitution - Missense(1)		lung(1)								c.(793-795)TGG>AGG		RecName: Full=Uncharacterized protein C1orf222;							54.0	55.0	55.0					1																	1854051		2200	4298	6498	SO:0001628	intergenic_variant	0							g.chr1:1854051A>T																													1.37:g.1854051A>T						uc001ail.2_Missense_Mutation_p.W265R	p.W265R							10	1643	-									Missense_Mutation	SNP		37	c.793T>A																																																																																				0	PASS	0.637									15	59	15	59	---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6169932	6169932	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:6169932C>T	ENST00000262450.3	-	38	5600	c.5501G>A	c.(5500-5502)tGc>tAc	p.C1834Y	CHD5_ENST00000378021.1_Missense_Mutation_p.C691Y	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.C1834Y(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCGGCGAGGCACTCCACTTC	0.657																																						uc001amb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(5500-5502)TGC>TAC		chromodomain helicase DNA binding protein 5							75.0	76.0	76.0					1																	6169932		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6169932C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5501G>A	1.37:g.6169932C>T	ENSP00000262450:p.Cys1834Tyr					CHD5_uc001alz.1_Missense_Mutation_p.C691Y|CHD5_uc001ama.1_RNA	p.C1834Y	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	38	5601	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1834					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5501G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.921608	0.92319	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.91843	-2.92;2.08	4.65	3.73	0.42828	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.95108	0.8415	M	0.67953	2.075	0.58432	D	0.999996	D;B	0.76494	0.999;0.411	D;B	0.85130	0.997;0.226	D	0.95339	0.8436	10	0.87932	D	0	-37.3624	14.5362	0.67963	0.1475:0.8525:0.0:0.0	.	1834;691	Q8TDI0;Q5TG85	CHD5_HUMAN;.	Y	1834;691;691	ENSP00000262450:C1834Y;ENSP00000367260:C691Y	ENSP00000262450:C1834Y	C	-	2	0	CHD5	6092519	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.680000	0.84062	1.054000	0.40438	0.511000	0.50034	TGC		PASS	0.657	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		10	118	10	118	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12309329	12309329	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:12309329C>T	ENST00000358136.3	+	6	627	c.497C>T	c.(496-498)cCc>cTc	p.P166L	VPS13D_ENST00000356315.4_Missense_Mutation_p.P166L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.P166L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTCACCAATCCCTCCCATCCT	0.403																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(496-498)CCC>CTC		vacuolar protein sorting 13D isoform 1							177.0	146.0	156.0					1																	12309329		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12309329C>T	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.497C>T	1.37:g.12309329C>T	ENSP00000350854:p.Pro166Leu					VPS13D_uc001atw.2_Missense_Mutation_p.P166L	p.P166L	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)	6	638	+	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)	166						Missense_Mutation	SNP	ENST00000358136.3	37	c.497C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206153	0.79127	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.58940	0.3;0.3	5.5	5.5	0.81552	.	0.120016	0.56097	D	0.000030	T	0.69324	0.3098	L	0.55213	1.73	0.80722	D	1	D;D	0.69078	0.997;0.976	P;B	0.58721	0.844;0.321	T	0.70270	-0.4918	10	0.54805	T	0.06	.	18.3927	0.90489	0.0:1.0:0.0:0.0	.	166;166	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	L	166	ENSP00000348666:P166L;ENSP00000350854:P166L	ENSP00000348666:P166L	P	+	2	0	VPS13D	12231916	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	5.268000	0.65536	2.573000	0.86826	0.555000	0.69702	CCC		PASS	0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		26	87	26	87	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16257530	16257530	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:16257530G>C	ENST00000375759.3	+	11	4999	c.4795G>C	c.(4795-4797)Gaa>Caa	p.E1599Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1599					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E1599Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGAAAAAGAAAAAGACCA	0.418																																						uc001axk.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(4795-4797)GAA>CAA		spen homolog, transcriptional regulator							56.0	62.0	60.0					1																	16257530		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257530G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4795G>C	1.37:g.16257530G>C	ENSP00000364912:p.Glu1599Gln					SPEN_uc010obp.1_Missense_Mutation_p.E1558Q	p.E1599Q	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4999	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1599			Potential.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.4795G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834301	0.50951	.	.	ENSG00000065526	ENST00000375759	T	0.12255	2.7	4.76	4.76	0.60689	.	.	.	.	.	T	0.24586	0.0596	L	0.32530	0.975	0.37422	D	0.913692	D	0.76494	0.999	D	0.63488	0.915	T	0.06570	-1.0819	9	0.23891	T	0.37	-20.9605	17.944	0.89034	0.0:0.0:1.0:0.0	.	1599	Q96T58	MINT_HUMAN	Q	1599	ENSP00000364912:E1599Q	ENSP00000364912:E1599Q	E	+	1	0	SPEN	16130117	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.298000	0.59067	2.445000	0.82738	0.467000	0.42956	GAA		PASS	0.418	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		8	153	8	153	---	---	---	---
RSG1	79363	broad.mit.edu	37	1	16559053	16559053	+	Missense_Mutation	SNP	C	C	T	rs142028968	byFrequency	TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:16559053C>T	ENST00000375599.3	-	4	898	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	160	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)	p.R160H(2)		large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						ACCTGCTATGCGGGCCAGCTG	0.587																																						uc001ayd.2																			2	Substitution - Missense(2)	p.R160H(1)	lung(1)|pancreas(1)		0						c.(478-480)CGC>CAC		hypothetical protein LOC79363		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	64.0	62.0	63.0		479	5.6	0.8	1	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RSG1	NM_030907.3	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	160/259	16559053	4,13002	2203	4300	6503	SO:0001583	missense	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16559053C>T	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.479G>A	1.37:g.16559053C>T	ENSP00000364749:p.Arg160His						p.R160H	NM_030907	NP_112169	Q9BU20	RSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	4	901	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	160			Small GTPase-like.		Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	c.479G>A	CCDS171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.91|18.91	3.722860|3.722860	0.68959|0.68959	6.81E-4|6.81E-4	1.16E-4|1.16E-4	ENSG00000132881|ENSG00000132881	ENST00000434014|ENST00000375599	.|T	.|0.69040	.|-0.37	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Mitochondrial Rho-like (1);	.|0.064449	.|0.64402	.|D	.|0.000007	T|T	0.80401|0.80401	0.4616|0.4616	M|M	0.71206|0.71206	2.165|2.165	0.53688|0.53688	D|D	0.999973|0.999973	.|D	.|0.89917	.|1.0	.|D	.|0.65773	.|0.938	T|T	0.81351|0.81351	-0.0972|-0.0972	5|10	.|0.59425	.|D	.|0.04	-4.6237|-4.6237	17.126|17.126	0.86714|0.86714	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|160	.|Q9BU20	.|RSG1_HUMAN	T|H	91|160	.|ENSP00000364749:R160H	.|ENSP00000364749:R160H	A|R	-|-	1|2	0|0	RSG1|RSG1	16431640|16431640	0.995000|0.995000	0.38212|0.38212	0.845000|0.845000	0.33349|0.33349	0.478000|0.478000	0.33099|0.33099	3.342000|3.342000	0.52159|0.52159	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GCA|CGC		PASS	0.587	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		4	127	4	127	---	---	---	---
ZNF436	80818	broad.mit.edu	37	1	23689210	23689210	+	Missense_Mutation	SNP	T	T	A	rs368776560		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:23689210T>A	ENST00000314011.4	-	4	801	c.665A>T	c.(664-666)cAc>cTc	p.H222L	ZNF436_ENST00000374608.3_Missense_Mutation_p.H222L	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H222L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATTACATTTGTGAGGCTTCTC	0.468																																						uc001bgt.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(664-666)CAC>CTC		zinc finger protein 436							105.0	114.0	111.0					1																	23689210		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23689210T>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.665A>T	1.37:g.23689210T>A	ENSP00000313582:p.His222Leu					ZNF436_uc001bgu.2_Missense_Mutation_p.H222L	p.H222L	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	1046	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	222			C2H2-type 4.		Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.665A>T	CCDS233.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892752	0.52121	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.18338	2.22;2.22;2.22	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.15825	0.0381	L	0.38649	1.16	0.36272	D	0.85523	B	0.30068	0.267	B	0.27500	0.08	T	0.10382	-1.0632	10	0.87932	D	0	-24.078	13.8437	0.63455	0.0:0.0:0.0:1.0	.	222	Q9C0F3	ZN436_HUMAN	L	222	ENSP00000313582:H222L;ENSP00000363737:H222L;ENSP00000363736:H222L	ENSP00000313582:H222L	H	-	2	0	ZNF436	23561797	0.662000	0.27439	1.000000	0.80357	0.832000	0.47134	3.090000	0.50191	2.158000	0.67659	0.459000	0.35465	CAC		PASS	0.468	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		54	199	54	199	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36941154	36941154	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:36941154A>T	ENST00000373106.1	-	4	732	c.185T>A	c.(184-186)cTg>cAg	p.L62Q	CSF3R_ENST00000373103.1_Missense_Mutation_p.L62Q|CSF3R_ENST00000338937.5_Missense_Mutation_p.L62Q|CSF3R_ENST00000418048.2_Missense_Mutation_p.L62Q|CSF3R_ENST00000361632.4_Missense_Mutation_p.L62Q|CSF3R_ENST00000331941.5_Missense_Mutation_p.L62Q|CSF3R_ENST00000440588.2_Missense_Mutation_p.L62Q|CSF3R_ENST00000373104.1_Missense_Mutation_p.L62Q	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	62	Ig-like C2-type.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.L62Q(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGTCTCCACAGAATCTGTGG	0.602																																						uc001caw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(184-186)CTG>CAG		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						53.0	47.0	49.0					1																	36941154		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36941154A>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.185T>A	1.37:g.36941154A>T	ENSP00000362198:p.Leu62Gln					CSF3R_uc001cav.1_Missense_Mutation_p.L62Q|CSF3R_uc001cax.1_Missense_Mutation_p.L62Q|CSF3R_uc001cay.1_Missense_Mutation_p.L62Q	p.L62Q	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			4	363	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	62			Ig-like C2-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.185T>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	A	7.462	0.644907	0.14451	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.74	3.4	0.38934	Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	1.515640	0.03787	N	0.262223	T	0.80869	0.4706	L	0.51422	1.61	0.09310	N	1	D;P;P;B	0.54207	0.965;0.885;0.906;0.101	P;B;P;B	0.52672	0.706;0.367;0.5;0.031	T	0.60596	-0.7232	10	0.29301	T	0.29	-5.0E-4	1.4844	0.02444	0.5561:0.1483:0.1535:0.142	.	62;62;62;62	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	Q	62	ENSP00000362198:L62Q;ENSP00000362196:L62Q;ENSP00000362195:L62Q;ENSP00000355406:L62Q;ENSP00000332180:L62Q;ENSP00000401588:L62Q;ENSP00000345013:L62Q;ENSP00000397568:L62Q	ENSP00000332180:L62Q	L	-	2	0	CSF3R	36713741	0.002000	0.14202	0.002000	0.10522	0.124000	0.20399	0.977000	0.29475	0.513000	0.28278	0.459000	0.35465	CTG		PASS	0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		17	104	17	104	---	---	---	---
GPX7	2882	broad.mit.edu	37	1	53073986	53073986	+	Silent	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:53073986A>T	ENST00000361314.4	+	3	491	c.453A>T	c.(451-453)ccA>ccT	p.P151P		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	151					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.P151P(1)		breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	TAGTAGCCCCAGATGGAAAGG	0.557																																						uc001cue.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)CCA>CCT		glutathione peroxidase 7 precursor	Glutathione(DB00143)						104.0	104.0	104.0					1																	53073986		2203	4300	6503	SO:0001819	synonymous_variant	2882				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr1:53073986A>T	AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.453A>T	1.37:g.53073986A>T							p.P151P	NM_015696	NP_056511	Q96SL4	GPX7_HUMAN			3	492	+			151					O95337|Q5T501	Silent	SNP	ENST00000361314.4	37	c.453A>T	CCDS569.1																																																																																				PASS	0.557	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022913.1	NM_015696		50	113	50	113	---	---	---	---
C8A	731	broad.mit.edu	37	1	57349309	57349309	+	Silent	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:57349309A>T	ENST00000361249.3	+	6	906	c.810A>T	c.(808-810)tcA>tcT	p.S270S		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	270	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.S270S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TATCCCACTCACAAGACACTT	0.408																																						uc001cyo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(808-810)TCA>TCT		complement component 8, alpha polypeptide							71.0	69.0	70.0					1																	57349309		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57349309A>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.810A>T	1.37:g.57349309A>T							p.S270S	NM_000562	NP_000553	P07357	CO8A_HUMAN			6	942	+			270			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.810A>T	CCDS606.1																																																																																				PASS	0.408	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		28	85	28	85	---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65858250	65858250	+	Silent	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:65858250C>G	ENST00000395325.3	+	12	1591	c.1434C>G	c.(1432-1434)gtC>gtG	p.V478V	DNAJC6_ENST00000371069.4_Silent_p.V535V|DNAJC6_ENST00000263441.7_Silent_p.V465V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	478	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.V478V(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTCATGGAGTCAAGAAGCCCA	0.532																																						uc001dcd.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1432-1434)GTC>GTG		DnaJ (Hsp40) homolog, subfamily C, member 6							50.0	50.0	50.0					1																	65858250		2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65858250C>G	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1434C>G	1.37:g.65858250C>G						DNAJC6_uc001dcc.1_Silent_p.V509V|DNAJC6_uc010opc.1_Silent_p.V465V|DNAJC6_uc001dce.1_Silent_p.V535V	p.V478V	NM_014787	NP_055602	O75061	AUXI_HUMAN			12	1598	+			478			Pro-rich.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.1434C>G	CCDS30739.1																																																																																				PASS	0.532	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			17	69	17	69	---	---	---	---
IFI44L	10964	broad.mit.edu	37	1	79102885	79102885	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:79102885T>A	ENST00000370751.5	+	6	1224	c.1045T>A	c.(1045-1047)Tgt>Agt	p.C349S	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.C91S	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	349					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.C310S(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTATTAAACTGTGGTGAGTC	0.333																																						uc010oro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1045-1047)TGT>AGT		interferon-induced protein 44-like							84.0	84.0	84.0					1																	79102885		2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79102885T>A	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1045T>A	1.37:g.79102885T>A	ENSP00000359787:p.Cys349Ser					IFI44L_uc010orp.1_Missense_Mutation_p.C86S|IFI44L_uc010orq.1_Missense_Mutation_p.C86S	p.C349S	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			6	1224	+			349					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.1045T>A	CCDS687.2	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245439	0.39697	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.28666	3.17;1.6	4.08	-0.889	0.10580	.	0.703550	0.13479	N	0.384862	T	0.21881	0.0527	L	0.60455	1.87	0.09310	N	1	D	0.61697	0.99	P	0.59487	0.858	T	0.17684	-1.0361	10	0.21014	T	0.42	-1.3246	7.7401	0.28837	0.0:0.417:0.0:0.583	.	349	Q53G44	IF44L_HUMAN	S	349;91	ENSP00000359787:C349S;ENSP00000342833:C91S	ENSP00000342833:C91S	C	+	1	0	IFI44L	78875473	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.481000	0.22260	-0.055000	0.13244	0.377000	0.23210	TGT		PASS	0.333	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		21	65	21	65	---	---	---	---
IFI44	10561	broad.mit.edu	37	1	79120789	79120789	+	Silent	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:79120789T>C	ENST00000370747.4	+	4	670	c.585T>C	c.(583-585)atT>atC	p.I195I	IFI44_ENST00000545124.1_5'UTR|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	195					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.I195I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGGGTCCAATTGGAGCTGGGA	0.468																																						uc001dip.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(583-585)ATT>ATC		interferon-induced, hepatitis C-associated							124.0	117.0	119.0					1																	79120789		2203	4300	6503	SO:0001819	synonymous_variant	10561				response to virus	cytoplasm		g.chr1:79120789T>C	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.585T>C	1.37:g.79120789T>C						IFI44_uc010orr.1_Silent_p.I195I|IFI44_uc010ors.1_5'UTR	p.I195I	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			4	709	+			195					B7ZAG3|D3DQ80|Q14496	Silent	SNP	ENST00000370747.4	37	c.585T>C	CCDS688.1																																																																																				PASS	0.468	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		28	218	28	218	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79392575	79392575	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:79392575C>G	ENST00000370742.3	-	8	1142	c.1079G>C	c.(1078-1080)cGa>cCa	p.R360P		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	360					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R360P(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCTTACCTTTCGATGACTTAA	0.353																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1078-1080)CGA>CCA		EGF, latrophilin and seven transmembrane domain							97.0	89.0	92.0					1																	79392575		1857	4094	5951	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79392575C>G	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1079G>C	1.37:g.79392575C>G	ENSP00000359778:p.Arg360Pro						p.R360P	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	8	1235	-			360			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1079G>C	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348398	0.24426	.	.	ENSG00000162618	ENST00000370742	T	0.37411	1.2	6.02	-2.09	0.07232	.	1.030220	0.07626	N	0.927877	T	0.04407	0.0121	N	0.11927	0.2	0.09310	N	1	B	0.17268	0.021	B	0.15870	0.014	T	0.34976	-0.9807	9	.	.	.	.	0.1777	0.00120	0.3169:0.2206:0.2299:0.2327	.	360	Q9HBW9	ELTD1_HUMAN	P	360	ENSP00000359778:R360P	.	R	-	2	0	ELTD1	79165163	0.000000	0.05858	0.434000	0.26772	0.808000	0.45660	-0.193000	0.09573	-0.644000	0.05465	-1.596000	0.00833	CGA		PASS	0.353	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		28	62	28	62	---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85624609	85624609	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:85624609C>T	ENST00000341460.5	-	7	3458	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1137					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.E1137K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTGGCTGTTCAATCATTACT	0.348																																						uc009wcm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3409-3411)GAA>AAA		synapse defective 1, Rho GTPase, homolog 2							111.0	101.0	104.0					1																	85624609		1861	4097	5958	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85624609C>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3409G>A	1.37:g.85624609C>T	ENSP00000340594:p.Glu1137Lys						p.E1137K	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	7	3458	-			1137					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.3409G>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530724	0.27387	.	.	ENSG00000097096	ENST00000341460	T	0.53857	0.6	6.02	1.98	0.26296	.	0.749350	0.13490	N	0.384032	T	0.23289	0.0563	L	0.51422	1.61	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.25187	-1.0139	10	0.45353	T	0.12	.	7.0125	0.24871	0.0:0.6101:0.1157:0.2742	.	1137	Q5VT97	SYDE2_HUMAN	K	1137	ENSP00000340594:E1137K	ENSP00000340594:E1137K	E	-	1	0	SYDE2	85397197	0.000000	0.05858	0.968000	0.41197	0.819000	0.46315	-0.123000	0.10611	0.449000	0.26747	-0.140000	0.14226	GAA		PASS	0.348	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			23	57	23	57	---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94047862	94047862	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:94047862C>T	ENST00000370244.1	-	9	1970	c.1682G>A	c.(1681-1683)tGc>tAc	p.C561Y	BCAR3_ENST00000370247.3_Missense_Mutation_p.C470Y|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Missense_Mutation_p.C561Y|BCAR3_ENST00000539242.1_Missense_Mutation_p.C237Y|BCAR3_ENST00000370243.1_Missense_Mutation_p.C561Y	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	561	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.C561Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GCTTACCCTGCAGTCCATGCT	0.537																																						uc001dpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1681-1683)TGC>TAC		breast cancer antiestrogen resistance 3							130.0	122.0	125.0					1																	94047862		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94047862C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1682G>A	1.37:g.94047862C>T	ENSP00000359264:p.Cys561Tyr					BCAR3_uc001dqa.2_Missense_Mutation_p.C561Y|BCAR3_uc001dqb.2_Missense_Mutation_p.C561Y|BCAR3_uc001dpx.3_Missense_Mutation_p.C237Y|BCAR3_uc001dpy.2_Missense_Mutation_p.C470Y|BCAR3_uc009wdm.1_Missense_Mutation_p.C237Y	p.C561Y	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	1957	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	561			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.1682G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615767	0.87359	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.26	5.26	0.73747	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	T	0.43147	-0.9409	10	0.52906	T	0.07	-27.6967	19.0661	0.93110	0.0:1.0:0.0:0.0	.	341;561;470	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	Y	470;561;561;561;237	ENSP00000359267:C470Y;ENSP00000260502:C561Y;ENSP00000359264:C561Y;ENSP00000359263:C561Y;ENSP00000441343:C237Y	ENSP00000260502:C561Y	C	-	2	0	BCAR3	93820450	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.260000	0.78391	2.746000	0.94184	0.655000	0.94253	TGC		PASS	0.537	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			32	194	32	194	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114969855	114969855	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:114969855C>G	ENST00000358465.2	-	8	1447	c.1364G>C	c.(1363-1365)gGa>gCa	p.G455A	TRIM33_ENST00000450349.2_Missense_Mutation_p.G63A|TRIM33_ENST00000369543.2_Missense_Mutation_p.G455A	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	455					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G455A(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACGTATTGCTCCATTAGCAGC	0.363			T	RET	papillary thyroid																																	uc001eew.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		1	Substitution - Missense(1)		lung(1)	lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11						c.(1363-1365)GGA>GCA		tripartite motif-containing 33 protein isoform							110.0	110.0	110.0					1																	114969855		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114969855C>G	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1364G>C	1.37:g.114969855C>G	ENSP00000351250:p.Gly455Ala					TRIM33_uc010owr.1_Missense_Mutation_p.G63A|TRIM33_uc010ows.1_Missense_Mutation_p.G63A|TRIM33_uc001eex.2_Missense_Mutation_p.G455A	p.G455A	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1448	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	455					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1364G>C	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.63|15.63	2.889779|2.889779	0.52014|0.52014	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.75050	.|-0.74;-0.65;-0.9	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72953|0.72953	0.3525|0.3525	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D;B	.|0.76494	.|0.999;0.999;0.999;0.034	.|D;D;D;B	.|0.87578	.|0.991;0.991;0.998;0.076	T|T	0.68773|0.68773	-0.5320|-0.5320	5|10	.|0.16420	.|T	.|0.52	-12.6742|-12.6742	18.1494|18.1494	0.89669|0.89669	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|63;63;455;455	.|E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.|.;.;.;TRI33_HUMAN	Q|A	192|455;455;63	.|ENSP00000351250:G455A;ENSP00000358556:G455A;ENSP00000412077:G63A	.|ENSP00000351250:G455A	E|G	-|-	1|2	0|0	TRIM33|TRIM33	114771378|114771378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.456000|7.456000	0.80751|0.80751	2.298000|2.298000	0.77334|0.77334	0.655000|0.655000	0.94253|0.94253	GAG|GGA		PASS	0.363	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		28	213	28	213	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115229390	115229390	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:115229390C>A	ENST00000520113.2	-	4	471	c.456G>T	c.(454-456)caG>caT	p.Q152H	AMPD1_ENST00000353928.6_Missense_Mutation_p.Q119H|AMPD1_ENST00000369538.3_Missense_Mutation_p.Q148H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	152					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.Q152H(1)|p.Q119H(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CACCAGTAATCTGCACTCTCT	0.473																																						uc001efe.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(355-357)CAG>CAT		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						193.0	165.0	174.0					1																	115229390		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115229390C>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.456G>T	1.37:g.115229390C>A	ENSP00000430075:p.Gln152His					AMPD1_uc001eff.1_Missense_Mutation_p.Q115H	p.Q119H	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	441	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	119					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.357G>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784962	0.70222	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;D;T	0.85861	1.29;-2.04;1.29	5.32	5.32	0.75619	.	0.324846	0.34411	N	0.003996	D	0.84415	0.5467	L	0.55481	1.735	0.43930	D	0.996589	D;P	0.57899	0.981;0.944	P;P	0.50231	0.635;0.593	D	0.85135	0.0977	10	0.51188	T	0.08	-18.4916	18.9915	0.92794	0.0:1.0:0.0:0.0	.	148;119	Q5TF02;P23109	.;AMPD1_HUMAN	H	152;148;119	ENSP00000430075:Q152H;ENSP00000358551:Q148H;ENSP00000316520:Q119H	ENSP00000316520:Q119H	Q	-	3	2	AMPD1	115030913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.624000	0.46444	2.492000	0.84095	0.563000	0.77884	CAG		PASS	0.473	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			34	137	34	137	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115399274	115399274	+	Silent	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:115399274T>C	ENST00000369522.3	+	3	429	c.189T>C	c.(187-189)gaT>gaC	p.D63D	SYCP1_ENST00000369518.1_Silent_p.D63D	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	63	Asp/Glu-rich (acidic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.D63D(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAACATTGATTCAGGTAGGA	0.318																																						uc001efr.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(187-189)GAT>GAC		synaptonemal complex protein 1							76.0	76.0	76.0					1																	115399274		2203	4300	6503	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115399274T>C	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.189T>C	1.37:g.115399274T>C						SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.D63D|SYCP1_uc009wgw.2_Silent_p.D63D	p.D63D	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	398	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	63			Asp/Glu-rich (acidic).		O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.189T>C	CCDS879.1																																																																																				PASS	0.318	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		20	65	20	65	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117559882	117559882	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:117559882G>T	ENST00000256652.4	+	5	1457	c.1399G>T	c.(1399-1401)Ggc>Tgc	p.G467C	CD101_ENST00000369470.1_Missense_Mutation_p.G467C	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	467	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.G467C(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGGCAGGATGGCATTGTGCA	0.587																																						uc010oxb.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1399-1401)GGC>TGC		immunoglobulin superfamily, member 2 precursor							80.0	73.0	75.0					1																	117559882		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117559882G>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1399G>T	1.37:g.117559882G>T	ENSP00000256652:p.Gly467Cys					CD101_uc009whd.2_Missense_Mutation_p.G467C|CD101_uc010oxc.1_Missense_Mutation_p.G467C|CD101_uc010oxd.1_Missense_Mutation_p.G405C	p.G467C	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			5	1457	+			467			Extracellular (Potential).|Ig-like C2-type 4.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.1399G>T	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843394	0.71488	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.22945	1.93;1.93	4.72	4.72	0.59763	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000026	T	0.43743	0.1261	M	0.78801	2.425	0.50467	D	0.999877	D	0.89917	1.0	D	0.97110	1.0	T	0.42949	-0.9421	10	0.87932	D	0	-21.5029	13.3731	0.60723	0.0:0.0:1.0:0.0	.	467	Q93033	IGSF2_HUMAN	C	467	ENSP00000256652:G467C;ENSP00000358482:G467C	ENSP00000256652:G467C	G	+	1	0	CD101	117361405	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.114000	0.77103	2.594000	0.87642	0.655000	0.94253	GGC		PASS	0.587	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		19	91	19	91	---	---	---	---
GJA8	2703	broad.mit.edu	37	1	147380457	147380458	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:147380457_147380458CC>AA	ENST00000369235.1	+	1	375_376	c.375_376CC>AA	c.(373-378)gaCCag>gaAAag	p.125_126DQ>EK	GJA8_ENST00000240986.4_Missense_Mutation_p.125_126DQ>EK			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	125					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.Q126K(1)|p.D125E(1)|p.D125_Q126>EK(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCGGCCCGGACCAGGGCAGCGT	0.644																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(373-375)GAC>GAA|c.(376-378)CAG>AAG		connexin 50																																				SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380457C>A|g.chr1:147380458C>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	Exception_encountered	1.37:g.147380457_147380458delinsAA	ENSP00000358238:p.D125_Q126delinsEK						p.D125E|p.Q126K	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	438|439	+	all_hematologic(923;0.0276)		125|126			Cytoplasmic (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.375C>A|c.376C>A	CCDS30834.1																																																																																				PASS	0.644	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		26|27	52|55	26	52	---	---	---	---
VPS45	11311	broad.mit.edu	37	1	150048324	150048324	+	Silent	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:150048324G>C	ENST00000369130.3	+	4	849	c.303G>C	c.(301-303)gtG>gtC	p.V101V	VPS45_ENST00000369128.5_Silent_p.V65V|VPS45_ENST00000535106.1_Silent_p.V101V	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	101					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.V101V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGTAATGTGATCAGCAAGA	0.408																																						uc001etp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(301-303)GTG>GTC		vacuolar protein sorting 45A							177.0	154.0	162.0					1																	150048324		2203	4300	6503	SO:0001819	synonymous_variant	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150048324G>C	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.303G>C	1.37:g.150048324G>C						VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Silent_p.V65V|VPS45_uc010pbs.1_Silent_p.V65V|VPS45_uc001etq.2_5'Flank|VPS45_uc009wlm.1_Silent_p.V101V|VPS45_uc010pbr.1_Silent_p.V65V	p.V101V	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	876	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		101					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	ENST00000369130.3	37	c.303G>C	CCDS944.1																																																																																				PASS	0.408	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		37	177	37	177	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128744	152128744	+	Silent	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:152128744T>A	ENST00000316073.3	-	3	895	c.831A>T	c.(829-831)ctA>ctT	p.L277L		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	277	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.L277L(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTCCTGACCTAGCCTCTCAG	0.458																																						uc001ezs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(829-831)CTA>CTT		repetin							383.0	336.0	350.0					1																	152128744		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128744T>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.831A>T	1.37:g.152128744T>A							p.L277L	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	896	-			277			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.831A>T	CCDS41397.1																																																																																				PASS	0.458	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		126	431	126	431	---	---	---	---
LCE3E	353145	broad.mit.edu	37	1	152538465	152538465	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:152538465C>T	ENST00000368789.1	-	2	275	c.220G>A	c.(220-222)Ggc>Agc	p.G74S		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	74					keratinization (GO:0031424)			p.G74S(1)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGACCACTGCCCCTGTCACAG	0.652																																						uc001faa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)GGC>AGC		late cornified envelope 3E							59.0	70.0	67.0					1																	152538465		2203	4300	6503	SO:0001583	missense	353145				keratinization			g.chr1:152538465C>T		CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"""Late cornified envelopes"""	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.220G>A	1.37:g.152538465C>T	ENSP00000357778:p.Gly74Ser						p.G74S	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)	2	276	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		74					A2RRM6	Missense_Mutation	SNP	ENST00000368789.1	37	c.220G>A	CCDS1013.1	.	.	.	.	.	.	.	.	.	.	C	9.259	1.042605	0.19748	.	.	ENSG00000185966	ENST00000368789	T	0.08984	3.03	3.82	3.82	0.43975	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.34272	D	0.681155	D	0.67145	0.996	P	0.54924	0.764	T	0.06789	-1.0807	8	0.42905	T	0.14	.	11.3716	0.49702	0.0:1.0:0.0:0.0	.	74	Q5T5B0	LCE3E_HUMAN	S	74	ENSP00000357778:G74S	ENSP00000357778:G74S	G	-	1	0	LCE3E	150805089	0.072000	0.21174	0.798000	0.32154	0.152000	0.21847	1.025000	0.30090	2.099000	0.63709	0.557000	0.71058	GGC		PASS	0.652	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435		43	171	43	171	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154316369	154316369	+	Splice_Site	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:154316369G>T	ENST00000368489.3	+	18	1858	c.1858G>T	c.(1858-1860)Gag>Tag	p.E620*		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	606					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E620*(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGCCTCCAGGAGTACGCAGG	0.582																																						uc001fex.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1858-1860)GAG>TAG		ATPase, class I, type 8B, member 2 isoform a							42.0	40.0	41.0					1																	154316369		2203	4299	6502	SO:0001630	splice_region_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154316369G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1858-1G>T	1.37:g.154316369G>T							p.E620*	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		18	1858	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		606			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Nonsense_Mutation	SNP	ENST00000368489.3	37	c.1858G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545167	0.86022	.	.	ENSG00000143515	ENST00000368489	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4499	0.90700	0.0:0.0:1.0:0.0	.	.	.	.	X	620	.	.	E	+	1	0	ATP8B2	152582993	1.000000	0.71417	0.998000	0.56505	0.067000	0.16453	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.582	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	Nonsense_Mutation	39	85	39	85	---	---	---	---
CLK2	1196	broad.mit.edu	37	1	155240753	155240753	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:155240753T>A	ENST00000368361.4	-	2	331	c.16A>T	c.(16-18)Agg>Tgg	p.R6W	CLK2_ENST00000361168.5_Missense_Mutation_p.R6W|CLK2_ENST00000536801.1_Missense_Mutation_p.R6W|CLK2_ENST00000355560.4_Missense_Mutation_p.R6W|CLK2_ENST00000497188.1_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	6					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R6W(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGTGGTACCTTCGAGGATGC	0.527								Other conserved DNA damage response genes																														uc001fjy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)AGG>TGG	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							113.0	115.0	114.0					1																	155240753		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240753T>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.16A>T	1.37:g.155240753T>A	ENSP00000357345:p.Arg6Trp					RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.R6W|CLK2_uc001fjx.2_Translation_Start_Site|CLK2_uc009wqm.2_Missense_Mutation_p.R6W	p.R6W	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	306	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		6					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.16A>T		.	.	.	.	.	.	.	.	.	.	.	17.30	3.355529	0.61293	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.56941	0.43;0.44;0.43;0.44	4.68	3.5	0.40072	.	0.050209	0.85682	D	0.000000	T	0.58850	0.2151	M	0.72353	2.195	0.58432	D	0.999992	D;D	0.76494	0.997;0.999	D;D	0.76071	0.971;0.987	T	0.63932	-0.6525	10	0.87932	D	0	.	9.5657	0.39396	0.0:0.0:0.3417:0.6583	.	6;6	P49760;P49760-3	CLK2_HUMAN;.	W	6	ENSP00000354856:R6W;ENSP00000357345:R6W;ENSP00000347759:R6W;ENSP00000441023:R6W	ENSP00000347759:R6W	R	-	1	2	CLK2	153507377	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.459000	0.60102	0.781000	0.33589	0.449000	0.29647	AGG		PASS	0.527	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		39	123	39	123	---	---	---	---
PEAR1	375033	broad.mit.edu	37	1	156877949	156877949	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:156877949T>A	ENST00000338302.3	+	10	1157	c.932T>A	c.(931-933)tTt>tAt	p.F311Y	PEAR1_ENST00000292357.7_Missense_Mutation_p.F311Y			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	311	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.F311Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGGGCCGCTTTGGGCAGGAC	0.726																																						uc001fqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(931-933)TTT>TAT		platelet endothelial aggregation receptor 1							19.0	25.0	23.0					1																	156877949		2201	4297	6498	SO:0001583	missense	375033					integral to membrane		g.chr1:156877949T>A	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.932T>A	1.37:g.156877949T>A	ENSP00000344465:p.Phe311Tyr					PEAR1_uc009wsl.1_Missense_Mutation_p.F112Y|PEAR1_uc001fqk.1_Translation_Start_Site	p.F311Y	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			9	1048	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		311			EGF-like 4.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.932T>A	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	T	6.283	0.420308	0.11928	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.29397	1.57;1.57	4.18	4.18	0.49190	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.44097	D	0.000500	T	0.04227	0.0117	N	0.05467	-0.045	0.35782	D	0.821747	B;B	0.22146	0.065;0.036	B;B	0.26517	0.07;0.039	T	0.30208	-0.9986	10	0.05436	T	0.98	.	6.9105	0.24333	0.2052:0.0:0.0:0.7948	.	112;311	Q8N780;Q5VY43	.;PEAR1_HUMAN	Y	311	ENSP00000344465:F311Y;ENSP00000292357:F311Y	ENSP00000292357:F311Y	F	+	2	0	PEAR1	155144573	0.999000	0.42202	1.000000	0.80357	0.775000	0.43874	3.268000	0.51585	1.746000	0.51805	0.459000	0.35465	TTT		PASS	0.726	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		4	26	4	26	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157667071	157667071	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:157667071G>T	ENST00000368184.3	-	6	994	c.703C>A	c.(703-705)Ctc>Atc	p.L235I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.L235I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	235	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L235I(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCCAATCCGAGGGTCTGGCTA	0.577																																						uc001frb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(703-705)CTC>ATC		Fc receptor-like 3 precursor							92.0	92.0	92.0					1																	157667071		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667071G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.703C>A	1.37:g.157667071G>T	ENSP00000357167:p.Leu235Ile					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.L235I|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.L235I	p.L235I	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			6	995	-	all_hematologic(112;0.0378)		235			Ig-like C2-type 3.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.703C>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.068915	0.55539	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.13420	2.59;2.59	5.74	1.11	0.20524	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.020750	0.07891	N	0.971149	T	0.16769	0.0403	M	0.78223	2.4	0.09310	N	1	P;D	0.69078	0.87;0.997	D;D	0.70016	0.951;0.967	T	0.07790	-1.0754	10	0.51188	T	0.08	.	2.4525	0.04522	0.1775:0.2438:0.4411:0.1375	.	235;235	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	235	ENSP00000357169:L235I;ENSP00000357167:L235I	ENSP00000292392:L235I	L	-	1	0	FCRL3	155933695	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.454000	0.06770	0.309000	0.22966	0.491000	0.48974	CTC		PASS	0.577	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		49	215	49	215	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157773749	157773749	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:157773749G>T	ENST00000368176.3	-	3	272	c.205C>A	c.(205-207)Ccc>Acc	p.P69T	FCRL1_ENST00000358292.3_Missense_Mutation_p.P69T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.P69T	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	69	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P69T(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGAGCTTGGGGGAGCTGCTC	0.562																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)	7						c.(205-207)CCC>ACC		Fc receptor-like 1 isoform 1 precursor							88.0	89.0	88.0					1																	157773749		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157773749G>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.205C>A	1.37:g.157773749G>T	ENSP00000357158:p.Pro69Thr					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.P69T|FCRL1_uc001fri.2_Missense_Mutation_p.P69T|FCRL1_uc001frj.2_RNA	p.P69T	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	318	-	all_hematologic(112;0.0378)		69			Extracellular (Potential).|Ig-like C2-type 1.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.205C>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350429	0.41599	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.11712	2.75;2.75;2.75	4.55	-1.38	0.09027	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.992958	0.08178	N	0.985897	T	0.11879	0.0289	M	0.84326	2.69	0.09310	N	1	D;D;D	0.58268	0.982;0.981;0.959	P;P;P	0.62649	0.835;0.905;0.793	T	0.28964	-1.0027	10	0.12103	T	0.63	.	8.0735	0.30704	0.5556:0.0:0.4444:0.0	.	69;69;69	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	T	69	ENSP00000351039:P69T;ENSP00000357158:P69T;ENSP00000418130:P69T	ENSP00000351039:P69T	P	-	1	0	FCRL1	156040373	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.090000	0.11163	-0.343000	0.08351	-0.140000	0.14226	CCC		PASS	0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		51	208	51	208	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157804345	157804345	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:157804345G>A	ENST00000368174.4	-	4	666	c.570C>T	c.(568-570)cgC>cgT	p.R190R	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	190	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.R190R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTTGTTGCAGCGTTTTTGAG	0.592																																						uc001frk.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(568-570)CGC>CGT		CD5 molecule-like precursor							93.0	83.0	87.0					1																	157804345		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804345G>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.570C>T	1.37:g.157804345G>A							p.R190R	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	713	-	all_hematologic(112;0.0378)		190			SRCR 2.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.570C>T	CCDS1171.1																																																																																				PASS	0.592	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		39	132	39	132	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158647593	158647594	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:158647593_158647594CC>AA	ENST00000368147.4	-	7	1023_1024	c.843_844GG>TT	c.(841-846)aaGGag>aaTTag	p.281_282KE>N*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	281					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.K281_E282>N*(1)|p.K281N(1)|p.E282*(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)					GGTTCCTTCTCCTTGATCCACT	0.475																																						uc001fst.1																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(844-846)GAG>TAG|c.(841-843)AAG>AAT		spectrin, alpha, erythrocytic 1																																				SO:0001587	stop_gained	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.chr1:158647593C>A|g.chr1:158647594C>A	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.843_844delinsAA	1.37:g.158647593_158647594delinsAA	ENSP00000357129:p.K281_E282delinsN*						p.E282*|p.K281N	NM_003126	NP_003117	P02549	SPTA1_HUMAN			7	1043|1042	-	all_hematologic(112;0.0378)		282|281			Spectrin 4.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000368147.4	37	c.844G>T|c.843G>T	CCDS41423.1																																																																																				PASS	0.475	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19|18	100	18	100	---	---	---	---
F5	2153	broad.mit.edu	37	1	169541508	169541508	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:169541508C>A	ENST00000367797.3	-	3	525	c.324G>T	c.(322-324)aaG>aaT	p.K108N	F5_ENST00000367796.3_Missense_Mutation_p.K108N|F5_ENST00000546081.1_5'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	108	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.K108N(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGCTCAAGGGCTTATCTGCCT	0.323																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(322-324)AAG>AAT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						71.0	72.0	72.0					1																	169541508		2203	4299	6502	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169541508C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.324G>T	1.37:g.169541508C>A	ENSP00000356771:p.Lys108Asn					F5_uc010plr.1_RNA	p.K108N	NM_000130	NP_000121	P12259	FA5_HUMAN			3	469	-	all_hematologic(923;0.208)		108			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.324G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432196	0.62844	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99445	-5.91;-5.91	5.35	0.0514	0.14297	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.266301	0.39083	N	0.001478	D	0.98086	0.9369	N	0.21324	0.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96712	0.9526	10	0.54805	T	0.06	-21.79	8.2738	0.31860	0.0:0.3844:0.0:0.6156	.	108	P12259	FA5_HUMAN	N	108	ENSP00000356771:K108N;ENSP00000356770:K108N	ENSP00000356770:K108N	K	-	3	2	F5	167808132	0.989000	0.36119	0.988000	0.46212	0.990000	0.78478	-0.024000	0.12435	-0.035000	0.13691	0.563000	0.77884	AAG		PASS	0.323	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		23	75	23	75	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169581473	169581473	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:169581473G>T	ENST00000263686.6	-	6	980	c.943C>A	c.(943-945)Cca>Aca	p.P315T	SELP_ENST00000458599.2_Missense_Mutation_p.P315T|SELP_ENST00000367788.2_Intron|SELP_ENST00000367792.2_Missense_Mutation_p.P315T|SELP_ENST00000367793.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.P315T|SELP_ENST00000367786.2_Missense_Mutation_p.P315T|SELP_ENST00000367794.2_Missense_Mutation_p.P315T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	315	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.P315T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ACTGGGGCTGGGGCTGTCCAT	0.488																																						uc001ggi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(943-945)CCA>ACA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						131.0	104.0	113.0					1																	169581473		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169581473G>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.943C>A	1.37:g.169581473G>T	ENSP00000263686:p.Pro315Thr					SELP_uc001ggh.2_Missense_Mutation_p.P150T|SELP_uc009wvr.2_Missense_Mutation_p.P315T	p.P315T	NM_003005	NP_002996	P16109	LYAM3_HUMAN			6	1008	-	all_hematologic(923;0.208)		315			Extracellular (Potential).|Sushi 2.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.943C>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.260|6.260	0.416171|0.416171	0.11870|0.11870	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599	.|T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18	4.97|4.97	0.512|0.512	0.16994|0.16994	.|Complement control module (2);Sushi/SCR/CCP (3);	0.838935|0.838935	0.09941|0.09941	N|N	0.735946|0.735946	T|T	0.48874|0.48874	0.1524|0.1524	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.45768	.|0.866;0.664;0.613	.|P;P;P	.|0.54174	.|0.744;0.608;0.447	T|T	0.39563|0.39563	-0.9608|-0.9608	6|10	.|0.32370	.|T	.|0.25	.|.	5.1367|5.1367	0.14937|0.14937	0.2309:0.2906:0.4785:0.0|0.2309:0.2906:0.4785:0.0	.|.	.|315;315;315	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	H|T	314|315;315;314;315;315;315;315;315;315;315;300	.|ENSP00000263686:P315T;ENSP00000356768:P315T;ENSP00000356766:P315T;ENSP00000356765:P315T;ENSP00000356760:P315T	.|ENSP00000263686:P315T	P|P	-|-	2|1	0|0	SELP|SELP	167848097|167848097	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.557000|0.557000	0.35523|0.35523	-0.361000|-0.361000	0.07612|0.07612	-0.218000|-0.218000	0.10018|0.10018	0.650000|0.650000	0.86243|0.86243	CCC|CCA		PASS	0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		46	189	46	189	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175097181	175097181	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:175097181G>C	ENST00000239462.4	+	14	3172	c.3059G>C	c.(3058-3060)gGa>gCa	p.G1020A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1020	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.G1020A(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATGCAGCTGGGACGGGAAGAC	0.547																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3058-3060)GGA>GCA		tenascin N precursor							118.0	98.0	105.0					1																	175097181		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097181G>C	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3059G>C	1.37:g.175097181G>C	ENSP00000239462:p.Gly1020Ala						p.G1020A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	14	3172	+		Breast(1374;0.000962)	1020			Fibronectin type-III 9.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3059G>C	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183259	0.21870	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.56611	0.45	5.61	3.2	0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.460704	0.24727	N	0.036087	T	0.55721	0.1938	M	0.62723	1.935	0.09310	N	0.999999	P	0.45902	0.868	P	0.53760	0.734	T	0.43147	-0.9409	10	0.22706	T	0.39	.	6.122	0.20157	0.2013:0.1411:0.6577:0.0	.	1020	Q9UQP3	TENN_HUMAN	A	1020;843	ENSP00000239462:G1020A	ENSP00000239462:G1020A	G	+	2	0	TNN	173363804	0.999000	0.42202	0.002000	0.10522	0.124000	0.20399	2.997000	0.49457	0.428000	0.26173	0.462000	0.41574	GGA		PASS	0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		30	147	30	147	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175328799	175328799	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:175328799C>T	ENST00000367674.2	-	15	3631	c.2923G>A	c.(2923-2925)Gca>Aca	p.A975T	TNR_ENST00000263525.2_Missense_Mutation_p.A975T			Q92752	TENR_HUMAN	tenascin R	975	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.A975T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCACTGGTGCCTTCCACTGC	0.493																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2923-2925)GCA>ACA		tenascin R precursor							129.0	111.0	117.0					1																	175328799		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175328799C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2923G>A	1.37:g.175328799C>T	ENSP00000356646:p.Ala975Thr					TNR_uc009wwu.1_Missense_Mutation_p.A975T	p.A975T	NM_003285	NP_003276	Q92752	TENR_HUMAN			13	3004	-	Renal(580;0.146)		975			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2923G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446808	0.63178	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58797	0.31;0.31	5.85	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.134464	0.50627	D	0.000109	T	0.55673	0.1935	M	0.64404	1.975	0.32689	N	0.514422	B	0.26445	0.149	B	0.34038	0.174	T	0.63093	-0.6714	10	0.38643	T	0.18	.	10.3516	0.43939	0.1535:0.7123:0.1341:0.0	.	975	Q92752	TENR_HUMAN	T	975;975;885	ENSP00000356646:A975T;ENSP00000263525:A975T	ENSP00000263525:A975T	A	-	1	0	TNR	173595422	1.000000	0.71417	0.965000	0.40720	0.970000	0.65996	2.060000	0.41394	2.753000	0.94483	0.655000	0.94253	GCA		PASS	0.493	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		43	130	43	130	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175331844	175331844	+	Missense_Mutation	SNP	G	G	A	rs150401432		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:175331844G>A	ENST00000367674.2	-	14	3517	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	TNR_ENST00000263525.2_Missense_Mutation_p.R937W			Q92752	TENR_HUMAN	tenascin R	937	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R937W(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCCTGCCCCGCACGCTGTTG	0.552																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2809-2811)CGG>TGG		tenascin R precursor							205.0	169.0	182.0					1																	175331844		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331844G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2809C>T	1.37:g.175331844G>A	ENSP00000356646:p.Arg937Trp					TNR_uc009wwu.1_Missense_Mutation_p.R937W	p.R937W	NM_003285	NP_003276	Q92752	TENR_HUMAN			12	2890	-	Renal(580;0.146)		937			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2809C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020752	0.75275	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.54279	0.58;0.58	5.59	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.67953	2.075	0.54753	D	0.99998	D	0.89917	1.0	D	0.79108	0.992	T	0.71441	-0.4592	10	0.52906	T	0.07	.	13.8976	0.63783	0.0:0.0:0.8474:0.1526	.	937	Q92752	TENR_HUMAN	W	937;937;847	ENSP00000356646:R937W;ENSP00000263525:R937W	ENSP00000263525:R937W	R	-	1	2	TNR	173598467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.732000	0.38146	1.340000	0.45581	0.650000	0.86243	CGG		PASS	0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		50	118	50	118	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183543663	183543663	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:183543663G>T	ENST00000367535.3	-	4	711	c.460C>A	c.(460-462)Ccc>Acc	p.P154T	NCF2_ENST00000413720.1_Intron|NCF2_ENST00000367536.1_Missense_Mutation_p.P154T|NCF2_ENST00000418089.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	154					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.P154T(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)	GAATGTCTGGGCTCAGACTTC	0.443																																						uc001gqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(460-462)CCC>ACC		neutrophil cytosolic factor 2							319.0	285.0	296.0					1																	183543663		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183543663G>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.460C>A	1.37:g.183543663G>T	ENSP00000356505:p.Pro154Thr					NCF2_uc010pod.1_Intron|NCF2_uc010poe.1_Intron|NCF2_uc001gqk.3_Missense_Mutation_p.P154T	p.P154T	NM_000433	NP_000424	P19878	NCF2_HUMAN			4	735	-			154			TPR 3.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.460C>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085833	0.36758	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000367535	T;T	0.66460	-0.21;-0.21	5.32	3.27	0.37495	Tetratricopeptide-like helical (1);	0.367392	0.34411	N	0.003990	T	0.67655	0.2916	M	0.78049	2.395	0.80722	D	1	B	0.17852	0.024	B	0.09377	0.004	T	0.70096	-0.4966	10	0.52906	T	0.07	0.0055	16.0016	0.80297	0.0:0.2522:0.7478:0.0	.	154	P19878	NCF2_HUMAN	T	154;182;154	ENSP00000356506:P154T;ENSP00000356505:P154T	ENSP00000356505:P154T	P	-	1	0	NCF2	181810286	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.996000	0.40776	1.332000	0.45431	0.655000	0.94253	CCC		PASS	0.443	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		134	363	134	363	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276748	186276748	+	Missense_Mutation	SNP	G	G	A	rs563970834	byFrequency	TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:186276748G>A	ENST00000445192.2	+	7	1942	c.1897G>A	c.(1897-1899)Gca>Aca	p.A633T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.A590T|PRG4_ENST00000367485.4_Missense_Mutation_p.A540T|PRG4_ENST00000367483.4_Missense_Mutation_p.A592T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	633	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.A633T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CGAGAAGCTCGCACCCACCAC	0.687													-|||	7	0.00139776	0.0053	0.0	5008	,	,		6678	0.0		0.0	False		,,,				2504	0.0					uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1897-1899)GCA>ACA		proteoglycan 4 isoform A							29.0	32.0	31.0					1																	186276748		2199	4289	6488	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276748G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1897G>A	1.37:g.186276748G>A	ENSP00000399679:p.Ala633Thr					PRG4_uc001grt.3_Missense_Mutation_p.A592T|PRG4_uc009wyl.2_Missense_Mutation_p.A540T|PRG4_uc009wym.2_Missense_Mutation_p.A499T|PRG4_uc010poo.1_Intron	p.A633T	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1948	+			633			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1897G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	6.673	0.492808	0.12702	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.07021	3.23;3.33;3.23;3.36	2.9	-2.1	0.07210	.	.	.	.	.	T	0.06325	0.0163	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.41610	-0.9499	8	.	.	.	.	6.7134	0.23290	0.5875:0.0:0.4125:0.0	.	499;540;633;592	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	590;499;592;540;633	ENSP00000356456:A590T;ENSP00000356453:A592T;ENSP00000356455:A540T;ENSP00000399679:A633T	.	A	+	1	0	PRG4	184543371	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.506000	0.06359	-0.393000	0.07739	-1.386000	0.01163	GCA		PASS	0.687	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	23	8	23	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						uc001hfy.2																			19	Substitution - Nonsense(19)		lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	ovary(3)	3						c.(5230-5232)CGA>TGA		complement receptor 1 isoform F precursor							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_uc001hfx.2_Nonsense_Mutation_p.R2194*	p.R1744*	NM_000573	NP_000564	P17927	CR1_HUMAN			32	5370	+			1744			Extracellular (Potential).|Sushi 27.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.5230C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		PASS	0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	85	4	85	---	---	---	---
SYT14	255928	broad.mit.edu	37	1	210273672	210273672	+	Missense_Mutation	SNP	C	C	T	rs577985547		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:210273672C>T	ENST00000472886.1	+	6	1044	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	SYT14_ENST00000367019.1_Missense_Mutation_p.R344W|SYT14_ENST00000534859.1_Missense_Mutation_p.R344W|SYT14_ENST00000367015.1_Missense_Mutation_p.R306W|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000537238.1_Missense_Mutation_p.R306W|SYT14_ENST00000422431.1_Missense_Mutation_p.R389W|SYT14_ENST00000399639.2_Missense_Mutation_p.R344W			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	344	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.R344W(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTATGCAGTTCGGTTTAGACT	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20005	0.0		0.0	False		,,,				2504	0.0					uc009xcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1030-1032)CGG>TGG		synaptotagmin XIV isoform 4							60.0	58.0	59.0					1																	210273672		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210273672C>T	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1030C>T	1.37:g.210273672C>T	ENSP00000418901:p.Arg344Trp					SYT14_uc001hhs.3_Missense_Mutation_p.R389W|SYT14_uc001hht.3_Missense_Mutation_p.R344W|SYT14_uc001hhu.3_Intron|SYT14_uc010psn.1_Missense_Mutation_p.R389W|SYT14_uc010pso.1_Missense_Mutation_p.R306W	p.R344W	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	1102	+			344			Cytoplasmic (Potential).|C2 1.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.1030C>T	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275235	0.80580	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	6.07	5.14	0.70334	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.81112	2.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;0.999	D	0.87211	0.2247	10	0.72032	D	0.01	-11.2892	16.4918	0.84203	0.1321:0.8679:0.0:0.0	.	372;344;344;389	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	W	389;344;344;306;344;344;306	ENSP00000389039:R389W;ENSP00000442891:R344W;ENSP00000445837:R344W;ENSP00000437423:R306W;ENSP00000355986:R344W;ENSP00000418901:R344W;ENSP00000355982:R306W	ENSP00000355982:R306W	R	+	1	2	SYT14	208340295	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.385000	0.52485	1.517000	0.48917	0.650000	0.86243	CGG		PASS	0.348	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		40	144	40	144	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	210948737	210948737	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:210948737G>T	ENST00000271751.4	-	10	2092	c.2065C>A	c.(2065-2067)Cat>Aat	p.H689N	KCNH1_ENST00000367007.4_Missense_Mutation_p.H662N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	689	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.H689N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAGAAGGAATGGGAGAAGGCC	0.483																																						uc001hib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2065-2067)CAT>AAT		potassium voltage-gated channel, subfamily H,							102.0	93.0	96.0					1																	210948737		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210948737G>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2065C>A	1.37:g.210948737G>T	ENSP00000271751:p.His689Asn					KCNH1_uc001hic.2_Missense_Mutation_p.H662N	p.H689N	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	10	2235	-			689			Cytoplasmic (Potential).|cNMP.|Calmodulin-binding.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2065C>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	3.318	-0.139437	0.06669	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96491	-4.03;-4.03	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.146385	0.64402	D	0.000005	D	0.89451	0.6719	N	0.11724	0.165	0.47341	D	0.999394	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.84379	0.0548	10	0.02654	T	1	.	13.9965	0.64405	0.0:0.0:0.8486:0.1514	.	662;689	Q14CL3;O95259	.;KCNH1_HUMAN	N	689;662	ENSP00000271751:H689N;ENSP00000355974:H662N	ENSP00000271751:H689N	H	-	1	0	KCNH1	209015360	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.922000	0.56462	2.506000	0.84524	0.555000	0.69702	CAT		PASS	0.483	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		28	91	28	91	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215853703	215853703	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:215853703C>A	ENST00000307340.3	-	62	12468	c.12082G>T	c.(12082-12084)Gcc>Tcc	p.A4028S	USH2A_ENST00000366943.2_Missense_Mutation_p.A4028S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4028	Fibronectin type-III 25. {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.A4028S(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)		TACAGGTGGGCTTGATGGCTT	0.398										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.(12082-12084)GCC>TCC		usherin isoform B							99.0	104.0	102.0					1																	215853703		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.chr1:215853703C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12082G>T	1.37:g.215853703C>A	ENSP00000305941:p.Ala4028Ser	HNSCC(13;0.011)					p.A4028S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	62	12469	-			4028			Fibronectin type-III 25.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12082G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637488	0.67130	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59083	0.29;0.29	5.26	4.32	0.51571	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000424	T	0.71426	0.3338	M	0.85299	2.745	0.45205	D	0.998219	D	0.63046	0.992	D	0.63192	0.912	T	0.71337	-0.4623	10	0.41790	T	0.15	.	6.0024	0.19527	0.1569:0.6919:0.0:0.1512	.	4028	O75445	USH2A_HUMAN	S	4028	ENSP00000305941:A4028S;ENSP00000355910:A4028S	ENSP00000305941:A4028S	A	-	1	0	USH2A	213920326	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	2.843000	0.48238	1.172000	0.42781	0.655000	0.94253	GCC		PASS	0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		53	178	53	178	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216017726	216017726	+	Nonsense_Mutation	SNP	A	A	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:216017726A>C	ENST00000307340.3	-	46	9554	c.9168T>G	c.(9166-9168)taT>taG	p.Y3056*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Y3056*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3056	Fibronectin type-III 17. {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.Y3056*(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)		TATTATTTACATAGATAGAAT	0.418										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(9166-9168)TAT>TAG		usherin isoform B							89.0	92.0	91.0					1																	216017726		2203	4300	6503	SO:0001587	stop_gained	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.chr1:216017726A>C	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.9168T>G	1.37:g.216017726A>C	ENSP00000305941:p.Tyr3056*	HNSCC(13;0.011)					p.Y3056*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	46	9555	-			3056			Fibronectin type-III 17.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.9168T>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	52	19.476589	0.99920	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	6.04	4.92	0.64577	.	0.182759	0.26390	N	0.024645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6712	0.51401	0.9316:0.0:0.0684:0.0	.	.	.	.	X	3056	.	ENSP00000305941:Y3056X	Y	-	3	2	USH2A	214084349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.465000	0.45075	2.323000	0.78572	0.529000	0.55759	TAT		PASS	0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		39	108	39	108	---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220792066	220792066	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:220792066T>C	ENST00000366917.4	+	9	1144	c.878T>C	c.(877-879)gTc>gCc	p.V293A	MARK1_ENST00000402574.1_Missense_Mutation_p.V158A|MARK1_ENST00000366918.4_Missense_Mutation_p.V271A					MAP/microtubule affinity-regulating kinase 1									p.V293A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAATTATTAGTCCTGAATCCA	0.343																																						uc001hmn.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(877-879)GTC>GCC		MAP/microtubule affinity-regulating kinase 1							68.0	70.0	69.0					1																	220792066		2202	4300	6502	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220792066T>C	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.878T>C	1.37:g.220792066T>C	ENSP00000355884:p.Val293Ala					MARK1_uc009xdw.2_Missense_Mutation_p.V293A|MARK1_uc010pun.1_Missense_Mutation_p.V293A|MARK1_uc001hmm.3_Missense_Mutation_p.V271A	p.V293A	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	9	1475	+			293			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.878T>C	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041582	0.55003	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.63744	-0.06;-0.06;-0.06	5.85	4.72	0.59763	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	N	0.25201	0.72	0.80722	D	1	D;D;D;D	0.71674	0.997;0.993;0.998;0.969	D;D;D;P	0.83275	0.985;0.953;0.996;0.891	T	0.69734	-0.5065	10	0.87932	D	0	.	11.982	0.53125	0.0:0.0677:0.0:0.9322	.	293;158;293;271	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	A	158;271;293	ENSP00000386017:V158A;ENSP00000355885:V271A;ENSP00000355884:V293A	ENSP00000355884:V293A	V	+	2	0	MARK1	218858689	1.000000	0.71417	0.314000	0.25224	0.020000	0.10135	7.991000	0.88244	1.031000	0.39867	0.533000	0.62120	GTC		PASS	0.343	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			35	96	35	96	---	---	---	---
LIN9	286826	broad.mit.edu	37	1	226496871	226496871	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:226496871C>G	ENST00000328205.5	-	1	563	c.18G>C	c.(16-18)caG>caC	p.Q6H	LIN9_ENST00000481685.1_Missense_Mutation_p.Q6H|LIN9_ENST00000366801.1_5'UTR	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	0	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.Q6H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTTTCAAAGGCTGCCCGCCGC	0.672																																					Ovarian(197;1696 2974 11248 14117)	uc001hqa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CAG>CAC		lin-9 homolog							36.0	35.0	35.0					1																	226496871		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226496871C>G	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.18G>C	1.37:g.226496871C>G	ENSP00000329102:p.Gln6His					LIN9_uc001hqb.2_Missense_Mutation_p.Q6H|LIN9_uc001hqc.2_Intron|LIN9_uc009xel.1_Missense_Mutation_p.Q6H	p.Q6H	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	1	328	-	Breast(184;0.158)		Error:Variant_position_missing_in_Q5TKA1_after_alignment					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.18G>C	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	c	17.82	3.483678	0.63962	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000481685;ENST00000366807	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	T	0.35219	0.0924	.	.	.	0.80722	D	1	B;P	0.46064	0.438;0.872	B;B	0.24541	0.032;0.054	T	0.44907	-0.9297	7	0.56958	D	0.05	.	12.6393	0.56700	0.0:1.0:0.0:0.0	.	6;140	C9J5J4;B1ANK3	.;.	H	1;6;6;140	.	ENSP00000329102:Q6H	Q	-	3	2	LIN9	224563494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.699000	0.54778	1.752000	0.51891	0.444000	0.29173	CAG		PASS	0.672	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		19	49	19	49	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236894586	236894586	+	Silent	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:236894586G>T	ENST00000366578.4	+	7	835	c.669G>T	c.(667-669)ctG>ctT	p.L223L	ACTN2_ENST00000542672.1_Silent_p.L223L|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	223	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.L223L(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGAAGCACCTGGATATTCCTA	0.368																																						uc001hyf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(667-669)CTG>CTT		actinin, alpha 2							123.0	121.0	122.0					1																	236894586		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236894586G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.669G>T	1.37:g.236894586G>T						ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.L223L|ACTN2_uc010pxu.1_Silent_p.L8L	p.L223L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		7	873	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	223			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.669G>T	CCDS1613.1																																																																																				PASS	0.368	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		49	164	49	164	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240497454	240497454	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:240497454G>T	ENST00000319653.9	+	13	4920	c.4690G>T	c.(4690-4692)Gac>Tac	p.D1564Y	FMN2_ENST00000545751.1_Missense_Mutation_p.D160Y	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1564	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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.D1707Y(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)			AGAACCCCAGGACCTTTTTCA	0.353																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4690-4692)GAC>TAC		formin 2							123.0	137.0	132.0					1																	240497454		2203	4299	6502	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.chr1:240497454G>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.4690G>T	1.37:g.240497454G>T	ENSP00000318884:p.Asp1564Tyr					FMN2_uc010pye.1_Missense_Mutation_p.D1568Y|FMN2_uc010pyf.1_Missense_Mutation_p.D210Y|FMN2_uc010pyg.1_Missense_Mutation_p.D160Y	p.D1564Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		13	4915	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1564			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4690G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621200	0.87460	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.18502	2.21;2.21	5.52	5.52	0.82312	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.082150	0.49916	D	0.000132	T	0.50650	0.1628	M	0.87971	2.92	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;0.992;0.985;0.999	T	0.57825	-0.7744	10	0.87932	D	0	.	19.4322	0.94775	0.0:0.0:1.0:0.0	.	160;210;193;1564	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	Y	1564;160;191;40	ENSP00000318884:D1564Y;ENSP00000437918:D160Y	ENSP00000318884:D1564Y	D	+	1	0	FMN2	238564077	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.970000	0.88000	2.593000	0.87608	0.561000	0.74099	GAC		PASS	0.353	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		116	381	116	381	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248039387	248039387	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr1:248039387G>A	ENST00000366481.3	+	6	1105	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	353	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G353R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTTCTGGTGGGAGAAGGAGC	0.572																																						uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1057-1059)GGA>AGA		tripartite motif-containing 58							112.0	101.0	105.0					1																	248039387		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039387G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1057G>A	1.37:g.248039387G>A	ENSP00000355437:p.Gly353Arg					OR2W3_uc001idp.1_Intron	p.G353R	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1105	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	353			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1057G>A	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388613	0.25118	.	.	ENSG00000162722	ENST00000366481	T	0.63096	-0.02	4.05	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.350988	0.24585	N	0.037277	T	0.75598	0.3871	M	0.76727	2.345	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	T	0.78623	-0.2132	10	0.62326	D	0.03	.	14.5446	0.68020	0.0:0.0:1.0:0.0	.	353	Q8NG06	TRI58_HUMAN	R	353	ENSP00000355437:G353R	ENSP00000355437:G353R	G	+	1	0	TRIM58	246106010	1.000000	0.71417	0.690000	0.30148	0.128000	0.20619	3.740000	0.55082	2.559000	0.86315	0.650000	0.86243	GGA		PASS	0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		36	123	36	123	---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7164553	7164553	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:7164553G>T	ENST00000320892.6	+	7	1005	c.563G>T	c.(562-564)tGc>tTc	p.C188F	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	188					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C188F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGCCCCAAGTGCAAAGTCTAC	0.567																																						uc002qys.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(562-564)TGC>TTC		ring finger protein 144							98.0	86.0	90.0					2																	7164553		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7164553G>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.563G>T	2.37:g.7164553G>T	ENSP00000321330:p.Cys188Phe					RNF144A_uc002qyt.2_Missense_Mutation_p.C37F	p.C188F	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	7	1005	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	188			RING-type 2; degenerate.		D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.563G>T	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.886797|4.886797	0.91814|0.91814	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000432850|ENST00000320892	.|D	.|0.99454	.|-5.92	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99778|0.99778	0.9908|0.9908	H|H	0.97829|0.97829	4.085|4.085	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.79784	.|0.993	D|D	0.97155|0.97155	0.9834|0.9834	5|10	.|0.87932	.|D	.|0	.|.	20.2181|20.2181	0.98305|0.98305	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|188	.|P50876	.|R144A_HUMAN	S|F	184|188	.|ENSP00000321330:C188F	.|ENSP00000321330:C188F	A|C	+|+	1|2	0|0	RNF144A|RNF144A	7082004|7082004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.776000|0.776000	0.43924|0.43924	9.751000|9.751000	0.98889|0.98889	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GCA|TGC		PASS	0.567	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		33	129	33	129	---	---	---	---
SLC5A6	8884	broad.mit.edu	37	2	27426649	27426649	+	Silent	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:27426649G>C	ENST00000310574.3	-	10	1565	c.1092C>G	c.(1090-1092)ctC>ctG	p.L364L	SLC5A6_ENST00000408041.1_Silent_p.L364L|SLC5A6_ENST00000461319.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	364					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|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)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.L364L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	GTGGGTACCTGAGAGAGCCGC	0.577																																						uc002rjd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1090-1092)CTC>CTG		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						66.0	60.0	62.0					2																	27426649		2203	4300	6503	SO:0001819	synonymous_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27426649G>C	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1092C>G	2.37:g.27426649G>C						SLC5A6_uc010eyv.1_Silent_p.L364L	p.L364L	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			10	1483	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		364					B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	c.1092C>G	CCDS1740.1																																																																																				PASS	0.577	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		4	71	4	71	---	---	---	---
TRMT61B	55006	broad.mit.edu	37	2	29084171	29084171	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:29084171C>G	ENST00000306108.5	-	3	829	c.806G>C	c.(805-807)gGa>gCa	p.G269A	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	269					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)	p.G269A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						TCCTTGTGATCCAACTTAAGT	0.299																																						uc002rmm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(805-807)GGA>GCA		tRNA methyltransferase 61 homolog B							86.0	74.0	78.0					2																	29084171		2202	4300	6502	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29084171C>G	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.806G>C	2.37:g.29084171C>G	ENSP00000302801:p.Gly269Ala					TRMT61B_uc002rmn.2_Missense_Mutation_p.G269A|TRMT61B_uc010ezk.2_RNA	p.G269A	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN			3	838	-			269					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.806G>C	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.427139	0.43122	.	.	ENSG00000171103	ENST00000306108	T	0.37915	1.17	4.76	3.89	0.44902	.	0.234780	0.33980	N	0.004362	T	0.57504	0.2058	M	0.79475	2.455	0.35601	D	0.807833	P;D	0.69078	0.858;0.997	P;D	0.68765	0.564;0.96	T	0.67730	-0.5595	10	0.38643	T	0.18	.	12.876	0.57989	0.0:0.9203:0.0:0.0797	.	269;269	F8WDR2;Q9BVS5	.;TR61B_HUMAN	A	269	ENSP00000302801:G269A	ENSP00000302801:G269A	G	-	2	0	TRMT61B	28937675	1.000000	0.71417	0.985000	0.45067	0.367000	0.29736	2.182000	0.42556	1.027000	0.39758	-0.361000	0.07541	GGA		PASS	0.299	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		22	80	22	80	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31598422	31598422	+	Splice_Site	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:31598422T>A	ENST00000379416.3	-	15	1476		c.e15-2			NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TTCCAGAGCCTGCCAGAGAGC	0.647																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Unknown(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.e15-1		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						41.0	37.0	38.0					2																	31598422		2203	4300	6503	SO:0001630	splice_region_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31598422T>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1428-2A>T	2.37:g.31598422T>A							p.K476_splice	NM_000379	NP_000370	P47989	XDH_HUMAN			15	1507	-	Acute lymphoblastic leukemia(172;0.155)							Q16681|Q16712|Q4PJ16	Splice_Site	SNP	ENST00000379416.3	37	c.1428_splice	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408498	0.83340	.	.	ENSG00000158125	ENST00000379416	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9579	0.71131	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	XDH	31451926	1.000000	0.71417	0.980000	0.43619	0.841000	0.47740	7.972000	0.88022	2.017000	0.59298	0.533000	0.62120	.		PASS	0.647	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	Intron	18	47	18	47	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44078926	44078926	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:44078926C>T	ENST00000272286.2	+	4	616	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	176	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.P176S(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GATGCGGCTGCCCAGAACCTT	0.612																																						uc002rtq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(526-528)CCC>TCC		ATP-binding cassette sub-family G member 8							108.0	114.0	112.0					2																	44078926		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44078926C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.526C>T	2.37:g.44078926C>T	ENSP00000272286:p.Pro176Ser					ABCG8_uc010yoa.1_Missense_Mutation_p.P176S	p.P176S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			4	616	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	176			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.526C>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072978	0.76415	.	.	ENSG00000143921	ENST00000272286	T	0.39997	1.05	4.92	4.92	0.64577	ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	L	0.56124	1.755	0.80722	D	1	P;P	0.44044	0.79;0.825	B;P	0.46299	0.377;0.511	T	0.49224	-0.8962	10	0.56958	D	0.05	.	14.6165	0.68552	0.0:0.8537:0.1463:0.0	.	176;176	Q9H221-2;Q9H221	.;ABCG8_HUMAN	S	176	ENSP00000272286:P176S	ENSP00000272286:P176S	P	+	1	0	ABCG8	43932430	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.311000	0.59147	2.283000	0.76528	0.655000	0.94253	CCC		PASS	0.612	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		40	174	40	174	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50779808	50779808	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:50779808C>T	ENST00000406316.2	-	9	3152	c.1676G>A	c.(1675-1677)gGt>gAt	p.G559D	NRXN1_ENST00000406859.3_Missense_Mutation_p.G559D|NRXN1_ENST00000405472.3_Missense_Mutation_p.G551D|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.G551D|NRXN1_ENST00000404971.1_Missense_Mutation_p.G599D|NRXN1_ENST00000401669.2_Missense_Mutation_p.G559D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	559	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G600D(2)|p.G559D(2)|p.G599D(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTTTATAGTACCTGACCCCAT	0.438																																						uc010fbq.2																			6	Substitution - Missense(6)		lung(3)|endometrium(3)	ovary(2)	2						c.(1795-1797)GGT>GAT		neurexin 1 isoform alpha2 precursor							129.0	120.0	123.0					2																	50779808		1882	4103	5985	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50779808C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1676G>A	2.37:g.50779808C>T	ENSP00000384311:p.Gly559Asp					NRXN1_uc002rxb.3_Missense_Mutation_p.G231D|NRXN1_uc002rxe.3_Missense_Mutation_p.G559D|NRXN1_uc002rxc.1_RNA	p.G599D	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	3273	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1796G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237105	0.79800	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.93	5.05	0.67936	.	0.050484	0.85682	D	0.000000	D	0.86916	0.6048	M	0.89534	3.04	0.54753	D	0.99998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.89240	0.3583	10	0.54805	T	0.06	.	16.4344	0.83871	0.1326:0.8674:0.0:0.0	.	599;559;551	Q9ULB1-3;F8WB18;A7E294	.;.;.	D	599;559;551;559;600;551;559	ENSP00000385142:G599D;ENSP00000384311:G559D;ENSP00000434015:G551D;ENSP00000385017:G559D;ENSP00000385434:G551D;ENSP00000385681:G559D	ENSP00000385017:G559D	G	-	2	0	NRXN1	50633312	1.000000	0.71417	0.928000	0.36995	0.945000	0.59286	7.764000	0.85297	1.490000	0.48466	-0.293000	0.09583	GGT		PASS	0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			55	152	55	152	---	---	---	---
SMEK2	57223	broad.mit.edu	37	2	55825555	55825555	+	Missense_Mutation	SNP	C	C	A	rs147118353		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:55825555C>A	ENST00000345102.5	-	4	1219	c.918G>T	c.(916-918)ttG>ttT	p.L306F	SMEK2_ENST00000407823.3_Missense_Mutation_p.L306F|SMEK2_ENST00000272313.5_Missense_Mutation_p.L306F	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	306					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.L306F(2)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACTTACCTGCAACATGCTGA	0.328																																						uc002rzc.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(916-918)TTG>TTT		SMEK homolog 2, suppressor of mek1 isoform 1							36.0	37.0	37.0					2																	55825555		2203	4299	6502	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825555C>A	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.918G>T	2.37:g.55825555C>A	ENSP00000339769:p.Leu306Phe					SMEK2_uc002rzb.2_Missense_Mutation_p.L306F|SMEK2_uc002rzd.2_Missense_Mutation_p.L306F|SMEK2_uc002rza.2_Missense_Mutation_p.L182F	p.L306F	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1293	-			306					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.918G>T	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439368	0.63067	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.58358	0.34;0.34;0.34	5.7	3.91	0.45181	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.79123	2.44	0.80722	D	1	P;P;B;D	0.55800	0.763;0.879;0.324;0.973	P;P;B;D	0.68039	0.48;0.72;0.273;0.955	T	0.68379	-0.5424	10	0.62326	D	0.03	-6.1517	8.4217	0.32705	0.0:0.7069:0.0:0.2931	.	306;306;306;306	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	F	306	ENSP00000272313:L306F;ENSP00000385912:L306F;ENSP00000339769:L306F	ENSP00000272313:L306F	L	-	3	2	SMEK2	55679059	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.964000	0.29306	0.762000	0.33152	0.655000	0.94253	TTG		PASS	0.328	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		22	72	22	72	---	---	---	---
PNO1	56902	broad.mit.edu	37	2	68385526	68385526	+	Silent	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:68385526A>G	ENST00000263657.2	+	2	313	c.222A>G	c.(220-222)gaA>gaG	p.E74E	WDR92_ENST00000295121.6_5'Flank|WDR92_ENST00000492039.2_5'Flank|WDR92_ENST00000406245.2_5'Flank|WDR92_ENST00000409164.1_5'Flank|RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	74						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E74E(1)		endometrium(1)|large_intestine(1)|lung(2)	4						GGAAAGAAGAAACAAGGAAAA	0.408																																					NSCLC(83;642 1410 13044 32832 40058)	uc002seh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)GAA>GAG		partner of NOB1							112.0	116.0	114.0					2																	68385526		2203	4300	6503	SO:0001819	synonymous_variant	56902					nucleolus	RNA binding	g.chr2:68385526A>G	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.222A>G	2.37:g.68385526A>G						WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	p.E74E	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN			2	284	+			74					A8K6Q0|Q53G13|Q8WVB8	Silent	SNP	ENST00000263657.2	37	c.222A>G	CCDS1885.1																																																																																				PASS	0.408	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		29	216	29	216	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136857	80136857	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:80136857G>T	ENST00000402739.4	+	6	995	c.990G>T	c.(988-990)agG>agT	p.R330S	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R330S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R330S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R330S|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R330S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R364S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	330					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R330S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCGCGAGAGGATCGTGGCGG	0.627																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(988-990)AGG>AGT		catenin, alpha 2 isoform 1							49.0	56.0	53.0					2																	80136857		2086	4227	6313	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136857G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.990G>T	2.37:g.80136857G>T	ENSP00000384638:p.Arg330Ser					CTNNA2_uc010yse.1_Missense_Mutation_p.R330S|CTNNA2_uc010ysf.1_Missense_Mutation_p.R330S|CTNNA2_uc010ysg.1_Missense_Mutation_p.R330S	p.R330S	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	995	+			330					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.990G>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.087334	0.76642	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	5.6	-1.93	0.07594	.	0.000000	0.64402	D	0.000001	T	0.58566	0.2131	M	0.88105	2.93	0.54753	D	0.999988	D;D;D	0.76494	0.987;0.982;0.999	D;P;D	0.71184	0.95;0.878;0.972	T	0.57057	-0.7876	10	0.62326	D	0.03	.	3.8774	0.09062	0.2314:0.5096:0.1355:0.1235	.	330;330;330	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	S	330;330;364;330;330;330	ENSP00000418191:R330S;ENSP00000419295:R330S;ENSP00000355398:R364S;ENSP00000384638:R330S;ENSP00000444675:R330S;ENSP00000441705:R330S	ENSP00000355398:R364S	R	+	3	2	CTNNA2	79990368	0.284000	0.24287	0.992000	0.48379	0.949000	0.60115	-0.265000	0.08644	-0.208000	0.10171	0.591000	0.81541	AGG		PASS	0.627	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		29	103	29	103	---	---	---	---
KCNIP3	30818	broad.mit.edu	37	2	96040934	96040934	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:96040934G>T	ENST00000295225.5	+	5	560	c.425G>T	c.(424-426)gGg>gTg	p.G142V	KCNIP3_ENST00000360990.3_Missense_Mutation_p.G120V|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Missense_Mutation_p.G116V	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	142	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)	p.G142V(1)|p.G116V(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GATGCGGACGGGAACGGGGCC	0.617																																						uc002sup.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)	3						c.(424-426)GGG>GTG		Kv channel interacting protein 3 isoform 1							187.0	143.0	158.0					2																	96040934		2203	4300	6503	SO:0001583	missense	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96040934G>T	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.425G>T	2.37:g.96040934G>T	ENSP00000295225:p.Gly142Val					KCNIP3_uc002suq.2_Missense_Mutation_p.G116V	p.G142V	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	5	540	+			142			EF-hand 2.		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	c.425G>T	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579457	0.28180	.	.	ENSG00000115041	ENST00000295225;ENST00000360990;ENST00000468529	D;D;D	0.81579	-1.51;-1.51;-1.51	3.69	3.69	0.42338	EF-hand-like domain (1);	0.314453	0.34338	N	0.004042	T	0.76955	0.4060	L	0.60845	1.875	0.52501	D	0.99995	B;B	0.13145	0.0;0.007	B;B	0.17722	0.007;0.019	T	0.76948	-0.2770	10	0.62326	D	0.03	.	12.96	0.58453	0.0:0.0:1.0:0.0	.	116;142	Q9Y2W7-3;Q9Y2W7	.;CSEN_HUMAN	V	142;120;116	ENSP00000295225:G142V;ENSP00000354261:G120V;ENSP00000417499:G116V	ENSP00000295225:G142V	G	+	2	0	KCNIP3	95404661	1.000000	0.71417	0.983000	0.44433	0.731000	0.41821	2.913000	0.48790	1.908000	0.55244	0.462000	0.41574	GGG		PASS	0.617	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		30	119	30	119	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102636172	102636172	+	Missense_Mutation	SNP	G	G	T	rs566165327		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:102636172G>T	ENST00000332549.3	+	5	815	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	IL1R2_ENST00000441002.1_Missense_Mutation_p.D196Y|IL1R2_ENST00000393414.2_Missense_Mutation_p.D196Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	196	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.D196Y(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ACTCGTACACGATGTGGCCCT	0.428																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(586-588)GAT>TAT		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						116.0	98.0	104.0					2																	102636172		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102636172G>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.586G>T	2.37:g.102636172G>T	ENSP00000330959:p.Asp196Tyr					IL1R2_uc002tbn.2_Missense_Mutation_p.D196Y|IL1R2_uc002tbo.1_Missense_Mutation_p.D196Y	p.D196Y	NM_004633	NP_004624	P27930	IL1R2_HUMAN			5	815	+			196			Extracellular (Potential).|Ig-like C2-type 2.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.586G>T	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061388	0.55432	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	6.03	-3.61	0.04556	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.687186	0.15054	N	0.283102	T	0.64724	0.2624	N	0.17474	0.49	0.09310	N	1	D	0.61697	0.99	P	0.53313	0.723	T	0.59669	-0.7411	10	0.66056	D	0.02	.	4.4805	0.11764	0.6409:0.0998:0.1603:0.099	.	196	P27930	IL1R2_HUMAN	Y	196	ENSP00000330959:D196Y;ENSP00000377066:D196Y;ENSP00000408415:D196Y;ENSP00000414611:D196Y	ENSP00000330959:D196Y	D	+	1	0	IL1R2	102002604	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-0.467000	0.06932	-0.742000	0.03525	GAT		PASS	0.428	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		10	50	10	50	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125261909	125261910	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:125261909_125261910CC>AA	ENST00000431078.1	+	8	1464_1465	c.1100_1101CC>AA	c.(1099-1101)cCC>cAA	p.P367Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	367	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P367Q(1)|p.P367H(1)|p.P367P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGATTGTGCCCATCACATTTG	0.46																																						uc002tno.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(10)	10						c.(1099-1101)CCC>CAC|c.(1099-1101)CCC>CCA		contactin associated protein-like 5 precursor																																				SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125261909C>A|g.chr2:125261910C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	Exception_encountered	2.37:g.125261909_125261910delinsAA	ENSP00000399013:p.Pro367Gln					CNTNAP5_uc010flu.2_Missense_Mutation_p.P368H|CNTNAP5_uc010flu.2_Silent_p.P368P	p.P367H|p.P367P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1464|1465	+			367			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation|Silent	SNP	ENST00000431078.1	37	c.1100C>A|c.1101C>A	CCDS46401.1																																																																																				PASS	0.460	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			13|12	104|105	12	104	---	---	---	---
ERCC3	2071	broad.mit.edu	37	2	128030506	128030506	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:128030506C>A	ENST00000285398.2	-	11	1856	c.1762G>T	c.(1762-1764)Gaa>Taa	p.E588*	ERCC3_ENST00000493187.2_Nonsense_Mutation_p.E524*	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	588	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.E588*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGCATCCTTTCCCCCTGAGAC	0.453			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(1762-1764)GAA>TAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							155.0	140.0	145.0					2																	128030506		2203	4300	6503	SO:0001587	stop_gained	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128030506C>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1762G>T	2.37:g.128030506C>A	ENSP00000285398:p.Glu588*					ERCC3_uc002toe.1_Nonsense_Mutation_p.E343*|ERCC3_uc002tof.1_Nonsense_Mutation_p.E524*|ERCC3_uc002tog.1_Nonsense_Mutation_p.E524*	p.E588*	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	11	1857	-	Colorectal(110;0.1)		588			Helicase C-terminal.		Q53QM0	Nonsense_Mutation	SNP	ENST00000285398.2	37	c.1762G>T	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	43	10.011188	0.99317	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.4687	19.6373	0.95740	0.0:1.0:0.0:0.0	.	.	.	.	X	588;524	.	ENSP00000285398:E588X	E	-	1	0	ERCC3	127746976	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.763000	0.85283	2.636000	0.89361	0.655000	0.94253	GAA		PASS	0.453	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		18	88	18	88	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136566200	136566200	+	Silent	SNP	C	C	A	rs151165674		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:136566200C>A	ENST00000264162.2	-	8	3727	c.3717G>T	c.(3715-3717)tcG>tcT	p.S1239S	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1239	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S1239S(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGGAAGGCCACGAAGGGTCCT	0.562																																						uc002tuu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3715-3717)TCG>TCT		lactase-phlorizin hydrolase preproprotein							155.0	128.0	137.0					2																	136566200		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566200C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3717G>T	2.37:g.136566200C>A							p.S1239S	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3728	-			1239			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.3717G>T	CCDS2178.1																																																																																				PASS	0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		31	186	31	186	---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136617013	136617013	+	Splice_Site	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:136617013C>A	ENST00000264156.2	-	9	1281		c.e9-1		MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CTCCACGTGCCTGTTCAAGGT	0.438																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2																			1	Unknown(1)		lung(1)		0						c.e9-1		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						68.0	62.0	64.0					2																	136617013		2203	4300	6503	SO:0001630	splice_region_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136617013C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1221-1G>T	2.37:g.136617013C>A							p.K407_splice	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	9	1297	-								B2R6H2|Q13504|Q99859	Splice_Site	SNP	ENST00000264156.2	37	c.1221_splice	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817211	0.90790	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7403	0.96228	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM6	136333483	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.323000	0.79105	2.652000	0.90054	0.655000	0.94253	.		PASS	0.438	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	Intron	10	51	10	51	---	---	---	---
CXCR4	7852	broad.mit.edu	37	2	136873423	136873423	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:136873423C>T	ENST00000241393.3	-	2	179	c.75G>A	c.(73-75)aaG>aaA	p.K25K	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Silent_p.K29K	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	25					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.K29K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	AACAGGGTTCCTTCATGGAGT	0.428																																						uc002tuz.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(73-75)AAG>AAA		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						91.0	95.0	94.0					2																	136873423		2203	4300	6503	SO:0001819	synonymous_variant	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873423C>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.75G>A	2.37:g.136873423C>T						CXCR4_uc002tuy.2_Silent_p.K29K|CXCR4_uc010fnk.2_Silent_p.K10K	p.K25K	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	170	-			25			Extracellular.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Silent	SNP	ENST00000241393.3	37	c.75G>A	CCDS46420.1																																																																																				PASS	0.428	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			34	139	34	139	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141643896	141643896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:141643896C>A	ENST00000389484.3	-	24	4746	c.3775G>T	c.(3775-3777)Gaa>Taa	p.E1259*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1259					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.E1259*(1)|p.E1259K(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)		ATGAATGCTTCAAAAGGATCT	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3775-3777)GAA>TAA		low density lipoprotein-related protein 1B							48.0	49.0	49.0					2																	141643896		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141643896C>A	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.3775G>T	2.37:g.141643896C>A	ENSP00000374135:p.Glu1259*	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Nonsense_Mutation_p.E441*	p.E1259*	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)	24	4747	-		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)	1259			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.3775G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	51	17.373717	0.99885	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	20.0175	0.97485	0.0:1.0:0.0:0.0	.	.	.	.	X	1259;1197;404	.	ENSP00000374135:E1259X	E	-	1	0	LRP1B	141360366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.797000	0.62503	2.730000	0.93505	0.650000	0.86243	GAA		PASS	0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	94	11	94	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145158831	145158831	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:145158831C>A	ENST00000558170.2	-	7	2035	c.851G>T	c.(850-852)tGc>tTc	p.C284F	ZEB2_ENST00000539609.3_Missense_Mutation_p.C260F|ZEB2_ENST00000409487.3_Missense_Mutation_p.C284F|ZEB2_ENST00000303660.4_Missense_Mutation_p.C284F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	284					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.C284F(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACACTCTGTGCATTTGAACTT	0.438																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(850-852)TGC>TTC		zinc finger homeobox 1b							167.0	160.0	163.0					2																	145158831		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145158831C>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.851G>T	2.37:g.145158831C>A	ENSP00000454157:p.Cys284Phe					ZEB2_uc002tvv.2_Missense_Mutation_p.C278F|ZEB2_uc010zbm.1_Missense_Mutation_p.C255F|ZEB2_uc010fnp.2_Missense_Mutation_p.C192F|ZEB2_uc010fnq.1_Missense_Mutation_p.C313F	p.C284F	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1331	-			284			C2H2-type 3.		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.851G>T	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.63|18.63	3.666417|3.666417	0.67814|0.67814	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000419938|ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.|D;D;D;D;D	.|0.90261	.|-2.64;-2.64;-2.64;-2.64;-2.64	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97111|0.97111	0.9056|0.9056	H|H	0.96430|0.96430	3.82|3.82	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;0.992;0.995;0.98	.|D;D;D;D;D	.|0.97110	.|1.0;0.997;0.982;0.986;0.974	D|D	0.98235|0.98235	1.0485|1.0485	5|10	.|0.87932	.|D	.|0	-6.9392|-6.9392	19.0474|19.0474	0.93027|0.93027	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|260;149;260;283;284	.|F5H814;Q53TD9;B7Z2P2;A0JP08;O60315	.|.;.;.;.;ZEB2_HUMAN	S|F	173|279;260;284;284;284;284	.|ENSP00000443792:C260F;ENSP00000302501:C284F;ENSP00000386854:C284F;ENSP00000395496:C284F;ENSP00000376601:C284F	.|ENSP00000302501:C284F	A|C	-|-	1|2	0|0	ZEB2|ZEB2	144875301|144875301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.523000|2.523000	0.85059|0.85059	0.491000|0.491000	0.48974|0.48974	GCA|TGC		PASS	0.438	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		90	214	90	214	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162834234	162834234	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:162834234C>T	ENST00000446997.1	+	26	3440	c.3347C>T	c.(3346-3348)tCc>tTc	p.S1116F	SLC4A10_ENST00000415876.2_Missense_Mutation_p.S1086F|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S1097F|SLC4A10_ENST00000272716.5_Intron	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1116					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.S1116F(1)|p.S1086F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GTCATAAGCTCCCCTTCCTAA	0.323																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(3346-3348)TCC>TTC		solute carrier family 4, sodium bicarbonate							77.0	71.0	73.0					2																	162834234		1805	4064	5869	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162834234C>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3347C>T	2.37:g.162834234C>T	ENSP00000393066:p.Ser1116Phe					SLC4A10_uc002uby.3_Missense_Mutation_p.S1086F|SLC4A10_uc010zcs.1_Missense_Mutation_p.S1097F	p.S1116F	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			26	3531	+			1116			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.3347C>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315983	0.60524	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000446997;ENST00000415711	T;T;T	0.79845	-1.31;-1.3;-1.3	5.51	5.51	0.81932	.	.	.	.	.	T	0.81259	0.4785	N	0.08118	0	0.50313	D	0.999863	D;D;D	0.64830	0.994;0.994;0.99	D;D;D	0.74348	0.983;0.983;0.962	D	0.85404	0.1133	9	0.62326	D	0.03	.	19.415	0.94690	0.0:1.0:0.0:0.0	.	1097;1086;1116	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	F	1097;1086;1116;1115	ENSP00000364664:S1097F;ENSP00000395797:S1086F;ENSP00000393066:S1116F	ENSP00000364664:S1097F	S	+	2	0	SLC4A10	162542480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.059000	0.49947	2.600000	0.87896	0.650000	0.86243	TCC		PASS	0.323	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		13	124	13	124	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170465179	170465179	+	Splice_Site	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:170465179A>G	ENST00000260970.3	+	7	509		c.e7-1		PPIG_ENST00000462903.1_Splice_Site|PPIG_ENST00000409714.3_Splice_Site|PPIG_ENST00000448752.2_Splice_Site	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)						protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ACTTCTCTATAGACGAGAGTT	0.328																																						uc002uez.2																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e7-2		peptidylprolyl isomerase G	L-Proline(DB00172)						65.0	62.0	63.0					2																	170465179		2203	4300	6503	SO:0001630	splice_region_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170465179A>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.290-1A>G	2.37:g.170465179A>G						PPIG_uc010fpx.2_Splice_Site_p.D82_splice|PPIG_uc010fpy.2_Splice_Site_p.D93_splice|PPIG_uc002ufa.2_Splice_Site_p.D97_splice|PPIG_uc002ufb.2_Splice_Site_p.D97_splice|PPIG_uc002ufc.1_Splice_Site_p.D97_splice|PPIG_uc002ufd.2_Splice_Site_p.D97_splice	p.D97_splice	NM_004792	NP_004783	Q13427	PPIG_HUMAN			7	510	+								D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Splice_Site	SNP	ENST00000260970.3	37	c.290_splice	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617093	0.66672	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0955	0.72232	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPIG	170173425	1.000000	0.71417	0.960000	0.40013	0.715000	0.41141	9.255000	0.95524	2.018000	0.59344	0.477000	0.44152	.		PASS	0.328	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2		Intron	24	53	24	53	---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173891408	173891408	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:173891408T>C	ENST00000397081.3	+	24	2505	c.2362T>C	c.(2362-2364)Ttc>Ctc	p.F788L	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.F635L|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.F788L|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.F617L|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.F644L|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.F568L|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.F787L|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.F635L	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	788	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.F788L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTGGGAACTCTTCAACTGCGT	0.428																																						uc002uhv.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(2362-2364)TTC>CTC		Rap guanine nucleotide exchange factor (GEF) 4							121.0	108.0	112.0					2																	173891408		1945	4165	6110	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173891408T>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2362T>C	2.37:g.173891408T>C	ENSP00000380271:p.Phe788Leu					RAPGEF4_uc002uhw.3_Missense_Mutation_p.F644L	p.F788L	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		24	2549	+			788			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.2362T>C	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569651	0.86439	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.42	5.42	0.78866	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	L	0.55017	1.72	0.80722	D	1	P;P	0.46020	0.848;0.871	P;P	0.59948	0.536;0.866	T	0.55205	-0.8177	10	0.42905	T	0.14	.	15.7539	0.78009	0.0:0.0:0.0:1.0	.	644;788	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	L	787;788;788;644;617;635;635;568;19	ENSP00000264111:F787L;ENSP00000380271:F788L;ENSP00000387104:F788L;ENSP00000380276:F644L;ENSP00000440135:F617L;ENSP00000440250:F635L;ENSP00000437384:F635L;ENSP00000438011:F568L;ENSP00000380274:F19L	ENSP00000264111:F787L	F	+	1	0	RAPGEF4	173599654	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.655000	0.83696	2.189000	0.69895	0.533000	0.62120	TTC		PASS	0.428	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		26	156	26	156	---	---	---	---
HOXD3	3232	broad.mit.edu	37	2	177033895	177033895	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:177033895A>G	ENST00000468418.3	+	3	2143	c.53A>G	c.(52-54)cAg>cGg	p.Q18R	HOXD3_ENST00000249440.3_Missense_Mutation_p.Q18R|HOXD3_ENST00000410016.1_Missense_Mutation_p.Q18R			P31249	HXD3_HUMAN	homeobox D3	18					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q18R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TGCACAATGCAGAAGGCTGCT	0.527																																						uc002ukt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(52-54)CAG>CGG		homeobox D3							102.0	99.0	100.0					2																	177033895		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177033895A>G		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.53A>G	2.37:g.177033895A>G	ENSP00000424734:p.Gln18Arg						p.Q18R	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	2	229	+			18					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.53A>G	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415669	0.62511	.	.	ENSG00000128652	ENST00000432796;ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.90900	-2.75;-2.75;-2.75	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	M	0.82630	2.6	0.58432	D	0.999996	D	0.54601	0.967	P	0.62382	0.901	D	0.95653	0.8708	10	0.87932	D	0	.	15.5763	0.76392	1.0:0.0:0.0:0.0	.	18	P31249	HXD3_HUMAN	R	18	ENSP00000424734:Q18R;ENSP00000386498:Q18R;ENSP00000249440:Q18R	ENSP00000249440:Q18R	Q	+	2	0	HOXD3	176742141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.139000	0.66308	0.533000	0.62120	CAG		PASS	0.527	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			21	130	21	130	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179414904	179414904	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:179414904G>A	ENST00000591111.1	-	287	86962	c.86738C>T	c.(86737-86739)cCa>cTa	p.P28913L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21614L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21681L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P21489L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30554L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27986L|RP11-65L3.2_ENST00000603415.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28913	Ig-like 133.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P27984L(1)|p.P21489L(1)|p.P21681L(1)|p.P21614L(1)|p.P27986L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGAGGCACTGGTCTTCCTTG	0.413																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(83956-83958)CCA>CTA		titin isoform N2-A							181.0	177.0	178.0					2																	179414904		1871	4102	5973	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414904G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86738C>T	2.37:g.179414904G>A	ENSP00000465570:p.Pro28913Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21681L|TTN_uc010zfi.1_Missense_Mutation_p.P21614L|TTN_uc010zfj.1_Missense_Mutation_p.P21489L	p.P27986L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		286	84181	-			28913					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.83957C>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.325342	0.81580	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91372	0.7278	H	0.96015	3.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.93166	0.6562	9	0.87932	D	0	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	21489;21614;21681;28913	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	27986;21489;21681;21614;21486	ENSP00000343764:P27986L;ENSP00000434586:P21489L;ENSP00000340554:P21681L;ENSP00000352154:P21614L	ENSP00000340554:P21681L	P	-	2	0	TTN	179123150	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	CCA		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		95	223	95	223	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179641375	179641375	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:179641375A>T	ENST00000591111.1	-	28	5440	c.5216T>A	c.(5215-5217)cTc>cAc	p.L1739H	TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L1693H|TTN_ENST00000360870.5_Missense_Mutation_p.L1739H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L1693H|TTN_ENST00000460472.2_Missense_Mutation_p.L1693H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L1739H|TTN_ENST00000342992.6_Missense_Mutation_p.L1739H			Q8WZ42	TITIN_HUMAN	titin	12574	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L1693H(3)|p.L1739H(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCATCATGGAGCCACTCCAC	0.478																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(5215-5217)CTC>CAC		titin isoform N2-A							68.0	61.0	63.0					2																	179641375		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641375A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5216T>A	2.37:g.179641375A>T	ENSP00000465570:p.Leu1739His					TTN_uc010zfh.1_Missense_Mutation_p.L1693H|TTN_uc010zfi.1_Missense_Mutation_p.L1693H|TTN_uc010zfj.1_Missense_Mutation_p.L1693H|TTN_uc002unb.2_Missense_Mutation_p.L1739H|uc002unc.1_5'Flank	p.L1739H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5440	-			1739					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5216T>A		.	.	.	.	.	.	.	.	.	.	A	11.25	1.582814	0.28268	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85252	0.5654	M	0.85945	2.785	0.35128	D	0.767647	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91363	0.5113	9	0.87932	D	0	.	14.7831	0.69781	1.0:0.0:0.0:0.0	.	1693;1693;1693;1739;1739	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1739;1693;1693;1693;1693;1739	ENSP00000343764:L1739H;ENSP00000434586:L1693H;ENSP00000340554:L1693H;ENSP00000352154:L1693H;ENSP00000354117:L1739H	ENSP00000340554:L1693H	L	-	2	0	TTN	179349620	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	9.180000	0.94867	1.914000	0.55421	0.459000	0.35465	CTC		PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	96	8	96	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185800578	185800578	+	Missense_Mutation	SNP	C	C	A	rs147922206		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:185800578C>A	ENST00000302277.6	+	4	1049	c.455C>A	c.(454-456)tCc>tAc	p.S152Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	152							metal ion binding (GO:0046872)	p.S152F(1)|p.S152Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AATGAAATTTCCCAACGAGTT	0.368																																						uc002uph.2																			2	Substitution - Missense(2)	p.S152F(1)	lung(1)|skin(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(454-456)TCC>TAC		zinc finger protein 804A							57.0	56.0	56.0					2																	185800578		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185800578C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.455C>A	2.37:g.185800578C>A	ENSP00000303252:p.Ser152Tyr						p.S152Y	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1049	+			152					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.455C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552458	0.45487	.	.	ENSG00000170396	ENST00000302277	T	0.06608	3.28	5.18	4.24	0.50183	.	0.415884	0.20585	N	0.089452	T	0.07999	0.0200	L	0.50333	1.59	0.09310	N	1	P	0.40476	0.718	B	0.42422	0.387	T	0.19679	-1.0298	10	0.38643	T	0.18	-1.7788	7.3606	0.26744	0.1685:0.7468:0.0:0.0847	.	152	Q7Z570	Z804A_HUMAN	Y	152	ENSP00000303252:S152Y	ENSP00000303252:S152Y	S	+	2	0	ZNF804A	185508823	0.011000	0.17503	0.548000	0.28192	0.931000	0.56810	1.420000	0.34804	2.418000	0.82041	0.467000	0.42956	TCC		PASS	0.368	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		27	106	27	106	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801937	185801937	+	Missense_Mutation	SNP	A	A	T	rs144621375		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:185801937A>T	ENST00000302277.6	+	4	2408	c.1814A>T	c.(1813-1815)cAt>cTt	p.H605L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	605							metal ion binding (GO:0046872)	p.H605L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATGTCAGCATCATCATATG	0.328																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1813-1815)CAT>CTT		zinc finger protein 804A		A	LEU/HIS	0,4404		0,0,2202	65.0	73.0	70.0		1814	3.2	0.8	2	dbSNP_134	70	4,8590		0,4,4293	yes	missense	ZNF804A	NM_194250.1	99	0,4,6495	TT,TA,AA		0.0465,0.0,0.0308	possibly-damaging	605/1210	185801937	4,12994	2202	4297	6499	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801937A>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1814A>T	2.37:g.185801937A>T	ENSP00000303252:p.His605Leu						p.H605L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2408	+			605					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1814A>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297388	0.23650	0.0	4.65E-4	ENSG00000170396	ENST00000302277	T	0.05447	3.44	5.5	3.17	0.36434	.	0.631525	0.14888	N	0.292596	T	0.05135	0.0137	L	0.44542	1.39	0.25590	N	0.986707	P	0.35077	0.483	B	0.27887	0.084	T	0.36841	-0.9731	10	0.17832	T	0.49	-4.8408	8.6798	0.34201	0.8461:0.0:0.1539:0.0	.	605	Q7Z570	Z804A_HUMAN	L	605	ENSP00000303252:H605L	ENSP00000303252:H605L	H	+	2	0	ZNF804A	185510182	0.810000	0.29049	0.770000	0.31555	0.366000	0.29705	3.924000	0.56476	0.927000	0.37143	0.528000	0.53228	CAT		PASS	0.328	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		69	139	69	139	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196759835	196759835	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:196759835G>C	ENST00000312428.6	-	30	4861	c.4761C>G	c.(4759-4761)ttC>ttG	p.F1587L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1587	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.F1587L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTCGGAAAAGAATGCAGTCA	0.368																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(4759-4761)TTC>TTG		dynein, axonemal, heavy chain 7							95.0	87.0	89.0					2																	196759835		1848	4095	5943	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196759835G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4761C>G	2.37:g.196759835G>C	ENSP00000311273:p.Phe1587Leu						p.F1587L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			30	4862	-			1587			AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4761C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056243	0.36277	.	.	ENSG00000118997	ENST00000312428	T	0.21031	2.03	5.26	4.38	0.52667	.	0.057970	0.64402	D	0.000001	T	0.12008	0.0292	L	0.33710	1.025	0.80722	D	1	B	0.25521	0.128	B	0.23716	0.048	T	0.11916	-1.0568	10	0.11794	T	0.64	.	3.9291	0.09276	0.2415:0.0:0.5873:0.1712	.	1587	Q8WXX0	DYH7_HUMAN	L	1587	ENSP00000311273:F1587L	ENSP00000311273:F1587L	F	-	3	2	DNAH7	196468080	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.526000	0.22971	1.454000	0.47793	0.655000	0.94253	TTC		PASS	0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		21	80	21	80	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196765006	196765006	+	Splice_Site	SNP	C	C	A	rs200854477		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:196765006C>A	ENST00000312428.6	-	28	4648	c.4548G>T	c.(4546-4548)aaG>aaT	p.K1516N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1516					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.K1516N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGTTCTCTACCTTCAGATTCC	0.398																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(4546-4548)AAG>AAT		dynein, axonemal, heavy chain 7							125.0	122.0	123.0					2																	196765006		1909	4136	6045	SO:0001630	splice_region_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196765006C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4548+1G>T	2.37:g.196765006C>A							p.K1516N	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			28	4649	-			1516					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4548G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243477	0.79912	.	.	ENSG00000118997	ENST00000312428	T	0.14266	2.52	4.94	4.94	0.65067	.	1.418690	0.04134	N	0.318511	T	0.65026	0.2652	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63937	-0.6524	9	.	.	.	.	17.9614	0.89086	0.0:1.0:0.0:0.0	.	1516	Q8WXX0	DYH7_HUMAN	N	1516	ENSP00000311273:K1516N	.	K	-	3	2	DNAH7	196473251	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	5.714000	0.68422	2.575000	0.86900	0.650000	0.86243	AAG		PASS	0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	Missense_Mutation	42	175	42	175	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209358071	209358071	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:209358071G>T	ENST00000272847.2	+	13	1553	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	447					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.R447I(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GGCAGCCGCAGATGCGGCTCA	0.592																																						uc002vdb.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1339-1341)AGA>ATA		parathyroid hormone 2 receptor precursor							35.0	36.0	36.0					2																	209358071		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358071G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1340G>T	2.37:g.209358071G>T	ENSP00000272847:p.Arg447Ile					PTH2R_uc010zjb.1_Missense_Mutation_p.R458I|PTH2R_uc010fuo.1_Intron	p.R447I	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1553	+			447			Cytoplasmic (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.1340G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.418158	0.42918	.	.	ENSG00000144407	ENST00000272847	T	0.54479	0.57	5.76	5.76	0.90799	.	0.000000	0.39909	U	0.001231	T	0.61664	0.2365	M	0.70275	2.135	0.24385	N	0.994779	P;P	0.45011	0.848;0.848	P;P	0.47075	0.536;0.536	T	0.59768	-0.7392	9	.	.	.	.	17.4442	0.87574	0.0:0.0:1.0:0.0	.	336;447	B4DFN8;P49190	.;PTH2R_HUMAN	I	447	ENSP00000272847:R447I	.	R	+	2	0	PTH2R	209066316	1.000000	0.71417	0.163000	0.22734	0.005000	0.04900	4.749000	0.62155	2.720000	0.93068	0.591000	0.81541	AGA		PASS	0.592	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		10	31	10	31	---	---	---	---
DES	1674	broad.mit.edu	37	2	220286269	220286269	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:220286269G>C	ENST00000373960.3	+	6	1317	c.1231G>C	c.(1231-1233)Gga>Cga	p.G411R		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	411	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.G411R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTGCTGGAGGGAGAGGAGAG	0.622																																						uc002vll.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1231-1233)GGA>CGA		desmin							36.0	36.0	36.0					2																	220286269		2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220286269G>C	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1231G>C	2.37:g.220286269G>C	ENSP00000363071:p.Gly411Arg						p.G411R	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	6	1317	+		Renal(207;0.0183)	411			Rod.|Coil 2B.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1231G>C	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735437	0.89482	.	.	ENSG00000175084	ENST00000373960	D	0.98362	-4.89	4.94	4.94	0.65067	Filament (1);	0.000000	0.48767	D	0.000164	D	0.98912	0.9631	H	0.95780	3.72	0.58432	D	0.999993	P	0.41848	0.763	P	0.48571	0.582	D	0.99911	1.1202	10	0.87932	D	0	.	17.9682	0.89105	0.0:0.0:1.0:0.0	.	411	P17661	DESM_HUMAN	R	411	ENSP00000363071:G411R	ENSP00000363071:G411R	G	+	1	0	DES	219994513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.519000	0.98025	2.544000	0.85801	0.655000	0.94253	GGA		PASS	0.622	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		9	78	9	78	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227662673	227662673	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:227662673C>A	ENST00000305123.5	-	1	1802	c.782G>T	c.(781-783)aGt>aTt	p.S261I	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	261	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.S261I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAACTCATCACTCATGGCCCG	0.642											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(781-783)AGT>ATT		insulin receptor substrate 1							73.0	80.0	77.0					2																	227662673		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662673C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.782G>T	2.37:g.227662673C>A	ENSP00000304895:p.Ser261Ile		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.S261I	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	834	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	261			IRS-type PTB.			Missense_Mutation	SNP	ENST00000305123.5	37	c.782G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500510	0.64298	.	.	ENSG00000169047	ENST00000305123	T	0.75367	-0.93	5.26	5.26	0.73747	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	L	0.50333	1.59	0.54753	D	0.999986	D	0.89917	1.0	D	0.76575	0.988	T	0.82985	-0.0185	10	0.49607	T	0.09	-25.0441	19.056	0.93066	0.0:1.0:0.0:0.0	.	261	P35568	IRS1_HUMAN	I	261	ENSP00000304895:S261I	ENSP00000304895:S261I	S	-	2	0	IRS1	227370917	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.752000	0.62176	2.735000	0.93741	0.561000	0.74099	AGT		PASS	0.642	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		22	98	22	98	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228846552	228846552	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:228846552G>A	ENST00000392056.3	-	12	5030	c.4984C>T	c.(4984-4986)Cat>Tat	p.H1662Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.H1633Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1662						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.H1662Y(1)|p.H1681Y(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACTTCCGATGAACCAGCTGC	0.493																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(4984-4986)CAT>TAT		sphingosine kinase type 1-interacting protein							87.0	80.0	83.0					2																	228846552		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228846552G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4984C>T	2.37:g.228846552G>A	ENSP00000375909:p.His1662Tyr					SPHKAP_uc002vpp.2_Missense_Mutation_p.H1633Y|SPHKAP_uc010zlx.1_3'UTR	p.H1662Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	12	5031	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1662					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4984C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919540	0.73098	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06218	3.33;3.33	5.85	5.85	0.93711	A-kinase anchor 110kDa, C-terminal (1);	0.478928	0.25202	N	0.032375	T	0.16514	0.0397	L	0.44542	1.39	0.25496	N	0.987594	D;P	0.65815	0.995;0.919	P;P	0.62014	0.897;0.616	T	0.24190	-1.0167	10	0.17369	T	0.5	.	19.1516	0.93491	0.0:0.0:1.0:0.0	.	1662;1633	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Y	1662;1633	ENSP00000375909:H1662Y;ENSP00000339886:H1633Y	ENSP00000339886:H1633Y	H	-	1	0	SPHKAP	228554796	1.000000	0.71417	0.993000	0.49108	0.892000	0.51952	4.761000	0.62243	2.773000	0.95371	0.655000	0.94253	CAT		PASS	0.493	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		14	75	14	75	---	---	---	---
SCLY	51540	broad.mit.edu	37	2	238978060	238978060	+	Silent	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr2:238978060G>T	ENST00000555827.1	+	4	490	c.426G>T	c.(424-426)tcG>tcT	p.S142S	SCLY_ENST00000254663.6_Silent_p.S150S|SCLY_ENST00000480859.1_3'UTR|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000409736.2_Silent_p.S142S|SCLY_ENST00000373332.3_Missense_Mutation_p.G39C|SCLY_ENST00000422984.2_Intron			Q96I15	SCLY_HUMAN	selenocysteine lyase	142					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.S142S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TTACTTCCTCGGTGGAACACG	0.597																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	uc010fyv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(424-426)TCG>TCT		selenocysteine lyase							56.0	50.0	52.0					2																	238978060		2203	4300	6503	SO:0001819	synonymous_variant	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238978060G>T	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.426G>T	2.37:g.238978060G>T						SCLY_uc002vxm.3_Silent_p.S109S|SCLY_uc002vxn.2_Silent_p.S142S|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Intron	p.S142S	NM_016510	NP_057594	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	4	490	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	142					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Silent	SNP	ENST00000555827.1	37	c.426G>T		.	.	.	.	.	.	.	.	.	.	G	16.08	3.022926	0.54683	.	.	ENSG00000132330	ENST00000373332	T	0.45668	0.89	5.91	-11.8	0.00035	.	.	.	.	.	T	0.31827	0.0809	.	.	.	0.40504	D	0.980678	.	.	.	.	.	.	T	0.57980	-0.7717	6	0.72032	D	0.01	-10.9949	1.1617	0.01807	0.134:0.2886:0.3501:0.2273	.	.	.	.	C	39	ENSP00000362429:G39C	ENSP00000362429:G39C	G	+	1	0	SCLY	238642799	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-2.854000	0.00730	-2.542000	0.00485	-1.707000	0.00718	GGT		PASS	0.597	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		13	47	13	47	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38674754	38674754	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:38674754C>G	ENST00000333535.4	-	2	194	c.45G>C	c.(43-45)agG>agC	p.R15S	SCN5A_ENST00000451551.2_Missense_Mutation_p.R15S|SCN5A_ENST00000414099.2_Missense_Mutation_p.R15S|SCN5A_ENST00000423572.2_Missense_Mutation_p.R15S|SCN5A_ENST00000443581.1_Missense_Mutation_p.R15S|SCN5A_ENST00000450102.2_Missense_Mutation_p.R15S|SCN5A_ENST00000413689.1_Missense_Mutation_p.R15S|SCN5A_ENST00000449557.2_Missense_Mutation_p.R15S|SCN5A_ENST00000425664.1_Missense_Mutation_p.R15S|SCN5A_ENST00000455624.2_Missense_Mutation_p.R15S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	15					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R15S(3)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCGTGTGAACCTGCGGAAGC	0.627																																						uc003cio.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(43-45)AGG>AGC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						40.0	43.0	42.0					3																	38674754		2039	4169	6208	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38674754C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.45G>C	3.37:g.38674754C>G	ENSP00000328968:p.Arg15Ser					SCN5A_uc003cin.2_Missense_Mutation_p.R15S|SCN5A_uc003cil.3_Missense_Mutation_p.R15S|SCN5A_uc010hhi.2_Missense_Mutation_p.R15S|SCN5A_uc010hhk.2_Missense_Mutation_p.R15S|SCN5A_uc011ayr.1_Missense_Mutation_p.R15S	p.R15S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	2	239	-	Medulloblastoma(35;0.163)		15					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.45G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011411	0.54468	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000327956	D;D;D;D;D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	4.37	3.5	0.40072	.	0.055339	0.64402	D	0.000001	D	0.89942	0.6861	M	0.79926	2.475	0.39844	D	0.973143	B;D;B;D;D;D	0.63880	0.267;0.993;0.267;0.985;0.982;0.991	B;D;B;B;P;P	0.72338	0.039;0.977;0.039;0.437;0.703;0.64	D	0.87498	0.2431	10	0.23302	T	0.38	.	7.7236	0.28746	0.1602:0.7562:0.0:0.0837	.	15;15;15;15;15;15	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	S	15	ENSP00000398962:R15S;ENSP00000398266:R15S;ENSP00000410257:R15S;ENSP00000388797:R15S;ENSP00000397915:R15S;ENSP00000416634:R15S;ENSP00000328968:R15S;ENSP00000399524:R15S;ENSP00000403355:R15S;ENSP00000413996:R15S;ENSP00000333674:R15S	ENSP00000333674:R15S	R	-	3	2	SCN5A	38649758	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.940000	0.28992	1.044000	0.40200	-0.424000	0.05967	AGG		PASS	0.627	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		15	48	15	48	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38835283	38835283	+	Silent	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:38835283T>C	ENST00000449082.2	-	1	218	c.219A>G	c.(217-219)gaA>gaG	p.E73E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	73					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E73E(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCCCGATCAGTTCTGCTGGGA	0.552																																						uc003ciq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(217-219)GAA>GAG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						143.0	149.0	147.0					3																	38835283		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835283T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.219A>G	3.37:g.38835283T>C							p.E73E	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	219	-			73					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.219A>G	CCDS33736.1																																																																																				PASS	0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		96	169	96	169	---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39153986	39153986	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:39153986A>T	ENST00000431162.2	+	5	607	c.473A>T	c.(472-474)gAc>gTc	p.D158V	TTC21A_ENST00000301819.6_Missense_Mutation_p.D158V|TTC21A_ENST00000440121.1_Intron			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	158								p.D158V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGACCTCAGACAAGCCCCAC	0.522																																						uc003cjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(472-474)GAC>GTC		tetratricopeptide repeat domain 21A isoform 2							70.0	73.0	72.0					3																	39153986		2032	4200	6232	SO:0001583	missense	199223						binding	g.chr3:39153986A>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.473A>T	3.37:g.39153986A>T	ENSP00000398211:p.Asp158Val					TTC21A_uc003cja.2_Missense_Mutation_p.D158V|TTC21A_uc010hho.1_Intron|TTC21A_uc003cjb.2_Intron|TTC21A_uc003cje.2_Missense_Mutation_p.D158V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Intron	p.D158V	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	5	650	+			158			TPR 3.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.473A>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456129	0.43634	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162	T;T	0.64618	-0.11;-0.11	5.74	1.64	0.23874	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.456808	0.20274	N	0.095606	T	0.57272	0.2042	M	0.64997	1.995	0.39812	D	0.97271	P;P;P	0.49090	0.919;0.868;0.919	B;B;B	0.43052	0.406;0.23;0.316	T	0.56896	-0.7903	10	0.54805	T	0.06	-9.5931	8.7796	0.34783	0.7382:0.0:0.2618:0.0	.	158;158;158	Q8NDW8-7;Q8NDW8;F5H6V8	.;TT21A_HUMAN;.	V	158	ENSP00000301819:D158V;ENSP00000398211:D158V	ENSP00000301819:D158V	D	+	2	0	TTC21A	39128990	0.802000	0.28943	0.088000	0.20740	0.923000	0.55619	1.484000	0.35508	0.026000	0.15269	-0.274000	0.10170	GAC		PASS	0.522	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		20	47	20	47	---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47037075	47037075	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:47037075C>T	ENST00000450053.3	+	13	2029	c.1850C>T	c.(1849-1851)gCa>gTa	p.A617V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A617V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	617					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.A617V(1)|p.A178V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATGGATACAGCACCTACCCCT	0.637																																						uc003cqp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1849-1851)GCA>GTA		neurobeachin-like 2							42.0	46.0	45.0					3																	47037075		2076	4210	6286	SO:0001583	missense	23218						binding	g.chr3:47037075C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1850C>T	3.37:g.47037075C>T	ENSP00000415034:p.Ala617Val					NBEAL2_uc003cqq.1_Missense_Mutation_p.A583V|NBEAL2_uc010hjm.1_Missense_Mutation_p.A178V	p.A617V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	13	2029	+		Acute lymphoblastic leukemia(5;0.0534)	617					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.1850C>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.338|1.338	-0.594942|-0.594942	0.03771|0.03771	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147|ENST00000416683	T;T|.	0.74106|.	-0.81;-0.81|.	4.53|4.53	-2.72|-2.72	0.05968|0.05968	Concanavalin A-like lectin/glucanase (1);|.	0.743675|.	0.12755|.	N|.	0.441835|.	T|T	0.14700|0.14700	0.0355|0.0355	N|N	0.12182|0.12182	0.205|0.205	0.19575|0.19575	N|N	0.999969|0.999969	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.0;0.003|.	T|T	0.24835|0.24835	-1.0149|-1.0149	10|5	0.15952|.	T|.	0.53|.	.|.	2.0488|2.0488	0.03566|0.03566	0.1303:0.2868:0.128:0.4549|0.1303:0.2868:0.128:0.4549	.|.	583;617|.	Q6ZNJ1-4;Q6ZNJ1|.	.;NBEL2_HUMAN|.	V|Y	617;617;583|89	ENSP00000292309:A617V;ENSP00000415034:A617V|.	ENSP00000292309:A617V|.	A|H	+|+	2|1	0|0	NBEAL2|NBEAL2	47012079|47012079	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.384000|-0.384000	0.07389|0.07389	-0.296000|-0.296000	0.08947|0.08947	-0.345000|-0.345000	0.07892|0.07892	GCA|CAC		PASS	0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		20	42	20	42	---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58090918	58090918	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:58090918C>A	ENST00000295956.4	+	11	1887	c.1722C>A	c.(1720-1722)tcC>tcA	p.S574S	FLNB_ENST00000357272.4_Silent_p.S574S|FLNB_ENST00000490882.1_Silent_p.S574S|FLNB_ENST00000429972.2_Silent_p.S574S|FLNB_ENST00000493452.1_Silent_p.S405S|FLNB_ENST00000419752.2_Silent_p.S405S|FLNB_ENST00000348383.5_Silent_p.S574S|FLNB_ENST00000358537.3_Silent_p.S574S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	574					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.S574S(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTAGAATCCATTGGCTCTG	0.582																																						uc003djj.2																			2	Substitution - coding silent(2)		lung(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(1720-1722)TCC>TCA		filamin B isoform 2							94.0	95.0	95.0					3																	58090918		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58090918C>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1722C>A	3.37:g.58090918C>A						FLNB_uc010hne.2_Silent_p.S574S|FLNB_uc003djk.2_Silent_p.S574S|FLNB_uc010hnf.2_Silent_p.S574S|FLNB_uc003djl.2_Silent_p.S405S|FLNB_uc003djm.2_Silent_p.S405S	p.S574S	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	11	1887	+			574			Filamin 4.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.1722C>A	CCDS2885.1																																																																																				PASS	0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		8	118	8	118	---	---	---	---
FAM19A1	407738	broad.mit.edu	37	3	68587941	68587941	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:68587941G>T	ENST00000478136.1	+	4	784	c.294G>T	c.(292-294)atG>atT	p.M98I	FAM19A1_ENST00000496687.1_Missense_Mutation_p.M98I	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	98						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.M98I(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GGTGTGAGATGGAGCCTTGCC	0.458																																						uc003dnd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(292-294)ATG>ATT		family with sequence similarity 19 (chemokine							154.0	150.0	152.0					3																	68587941		1967	4170	6137	SO:0001583	missense	407738					endoplasmic reticulum|extracellular region		g.chr3:68587941G>T	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.294G>T	3.37:g.68587941G>T	ENSP00000418575:p.Met98Ile					FAM19A1_uc003dne.2_Missense_Mutation_p.M98I|FAM19A1_uc003dng.2_Missense_Mutation_p.M98I	p.M98I	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	4	510	+		Lung NSC(201;0.0117)	98					A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	c.294G>T	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524869	0.85600	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.23	4.35	0.52113	.	0.037207	0.85682	D	0.000000	T	0.78470	0.4288	M	0.80847	2.515	0.40528	D	0.980907	P	0.49559	0.925	D	0.65140	0.932	T	0.82466	-0.0443	9	0.87932	D	0	.	13.9658	0.64207	0.0738:0.0:0.9262:0.0	.	98	Q7Z5A9	F19A1_HUMAN	I	98	.	ENSP00000418575:M98I	M	+	3	0	FAM19A1	68670631	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.681000	0.98653	1.317000	0.45149	0.650000	0.86243	ATG		PASS	0.458	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609		18	67	18	67	---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69072406	69072406	+	Silent	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:69072406T>C	ENST00000398559.2	-	17	3420	c.3204A>G	c.(3202-3204)gaA>gaG	p.E1068E	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Silent_p.E1071E|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'Flank			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1068					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.E1068E(1)		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)		CTAATCGAAGTTCTTCTGCCT	0.299																																						uc003dnn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3202-3204)GAA>GAG		TATA element modulatory factor 1							130.0	113.0	119.0					3																	69072406		1823	4064	5887	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.chr3:69072406T>C		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.3204A>G	3.37:g.69072406T>C						TMF1_uc011bfx.1_Silent_p.E1071E	p.E1068E	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)	17	3451	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	1068			Potential.		B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	37	c.3204A>G	CCDS43105.1																																																																																				PASS	0.299	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		9	42	9	42	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983348	97983348	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:97983348C>T	ENST00000383696.2	+	1	261	c.220C>T	c.(220-222)Cca>Tca	p.P74S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P74S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCTTCATATCCCAATGTACTT	0.418																																						uc003dsi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(220-222)CCA>TCA		olfactory receptor, family 5, subfamily H,							229.0	231.0	230.0					3																	97983348		2203	4300	6503	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983348C>T	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.220C>T	3.37:g.97983348C>T	ENSP00000373196:p.Pro74Ser						p.P74S	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	220	+			74			Helical; Name=2; (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.220C>T	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	12.47	1.947261	0.34377	.	.	ENSG00000230301	ENST00000383696	T	0.02015	4.5	2.19	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.156254	0.30260	N	0.010024	T	0.05364	0.0142	M	0.90198	3.095	0.27470	N	0.952901	P	0.45348	0.856	B	0.41412	0.356	T	0.14392	-1.0474	10	0.66056	D	0.02	.	6.9174	0.24367	0.0:0.8434:0.0:0.1566	.	74	Q8NGV6	OR5H6_HUMAN	S	74	ENSP00000373196:P74S	ENSP00000373196:P74S	P	+	1	0	OR5H6	99466038	0.987000	0.35691	0.775000	0.31657	0.082000	0.17680	6.346000	0.72999	0.258000	0.21686	-1.111000	0.02071	CCA		PASS	0.418	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			75	393	75	393	---	---	---	---
HHLA2	11148	broad.mit.edu	37	3	108072579	108072580	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:108072579_108072580GG>TT	ENST00000357759.5	+	4	784_785	c.370_371GG>TT	c.(370-372)GGa>TTa	p.G124L	HHLA2_ENST00000491820.1_Missense_Mutation_p.G124L|HHLA2_ENST00000489514.2_Missense_Mutation_p.G124L|HHLA2_ENST00000467761.1_Missense_Mutation_p.G124L|HHLA2_ENST00000467562.1_Missense_Mutation_p.G60L	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	124	Ig-like V-type 1.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)		p.G124*(2)|p.G124V(2)|p.G124L(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTGCTATGTAGGAACAGCAATT	0.391																																						uc003dwy.3																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)	ovary(1)	1						c.(370-372)GGA>TGA|c.(370-372)GGA>GTA		HERV-H LTR-associating 2 precursor																																				SO:0001583	missense	11148					integral to membrane		g.chr3:108072579G>T|g.chr3:108072580G>T	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	Exception_encountered	3.37:g.108072579_108072580delinsTT	ENSP00000350402:p.Gly124Leu					HHLA2_uc011bhl.1_Nonsense_Mutation_p.G60*|HHLA2_uc010hpu.2_Nonsense_Mutation_p.G124*|HHLA2_uc003dwz.2_Nonsense_Mutation_p.G124*|HHLA2_uc011bhl.1_Missense_Mutation_p.G60V|HHLA2_uc010hpu.2_Missense_Mutation_p.G124V|HHLA2_uc003dwz.2_Missense_Mutation_p.G124V	p.G124*|p.G124V	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			4	537|538	+			124			Ig-like V-type 1.		B4DKN2|D3DN60|Q9NWQ6	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000357759.5	37	c.370G>T|c.371G>T	CCDS46883.1																																																																																				PASS	0.391	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		5	49|48	5	48	---	---	---	---
HHLA2	11148	broad.mit.edu	37	3	108074178	108074178	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:108074178T>A	ENST00000357759.5	+	5	1049	c.635T>A	c.(634-636)aTt>aAt	p.I212N	HHLA2_ENST00000491820.1_Missense_Mutation_p.I212N|HHLA2_ENST00000489514.2_Missense_Mutation_p.I212N|HHLA2_ENST00000467761.1_Missense_Mutation_p.I212N|HHLA2_ENST00000467562.1_Missense_Mutation_p.I148N	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	212	Ig-like C1-type.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)		p.I212N(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GAATGTACAATTGAAAATTCA	0.413																																						uc003dwy.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(634-636)ATT>AAT		HERV-H LTR-associating 2 precursor							87.0	85.0	86.0					3																	108074178		1872	4111	5983	SO:0001583	missense	11148					integral to membrane		g.chr3:108074178T>A	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.635T>A	3.37:g.108074178T>A	ENSP00000350402:p.Ile212Asn					HHLA2_uc011bhl.1_Missense_Mutation_p.I148N|HHLA2_uc010hpu.2_Missense_Mutation_p.I212N|HHLA2_uc003dwz.2_Missense_Mutation_p.I212N	p.I212N	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			5	802	+			212			Ig-like C1-type.		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	c.635T>A	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.04|14.04	2.417887|2.417887	0.42918|0.42918	.|.	.|.	ENSG00000114455|ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T|.	0.03272|.	3.99;3.99;3.99;3.99;3.99|.	5.71|5.71	4.54|4.54	0.55810|0.55810	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);|.	0.151653|.	0.30565|.	N|.	0.009352|.	T|T	0.36524|0.36524	0.0970|0.0970	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999999|0.999999	D;D;D|.	0.71674|.	0.998;0.997;0.997|.	D;D;D|.	0.74348|.	0.983;0.969;0.969|.	T|T	0.21621|0.21621	-1.0240|-1.0240	9|5	.|.	.|.	.|.	-12.8406|-12.8406	8.5883|8.5883	0.33670|0.33670	0.0:0.0868:0.0:0.9132|0.0:0.0868:0.0:0.9132	.|.	148;212;212|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	N|K	212;148;212;212;212|114	ENSP00000418284:I212N;ENSP00000418345:I148N;ENSP00000350402:I212N;ENSP00000419207:I212N;ENSP00000417856:I212N|.	.|.	I|N	+|+	2|3	0|2	HHLA2|HHLA2	109556868|109556868	0.992000|0.992000	0.36948|0.36948	0.256000|0.256000	0.24389|0.24389	0.294000|0.294000	0.27393|0.27393	1.749000|1.749000	0.38319|0.38319	0.982000|0.982000	0.38575|0.38575	0.533000|0.533000	0.62120|0.62120	ATT|AAT		PASS	0.413	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		31	160	31	160	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121217424	121217424	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:121217424C>T	ENST00000264233.5	-	13	2181	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	685					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.E820K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCCACTAGCTCTGCCACCCTT	0.433								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2053-2055)GAG>AAG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							136.0	126.0	129.0					3																	121217424		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121217424C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2053G>A	3.37:g.121217424C>T	ENSP00000264233:p.Glu685Lys						p.E685K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	13	2182	-			685					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2053G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298327	0.95574	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.53206	0.63	5.68	5.68	0.88126	.	0.268583	0.42420	D	0.000720	T	0.55465	0.1922	L	0.60957	1.885	0.80722	D	1	P	0.36909	0.573	B	0.42959	0.403	T	0.57768	-0.7754	10	0.72032	D	0.01	.	19.7724	0.96370	0.0:1.0:0.0:0.0	.	685	O75417	DPOLQ_HUMAN	K	308;685;821	ENSP00000264233:E685K	ENSP00000264233:E685K	E	-	1	0	POLQ	122700114	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.379000	0.79691	2.664000	0.90586	0.655000	0.94253	GAG		PASS	0.433	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		30	126	30	126	---	---	---	---
HCLS1	3059	broad.mit.edu	37	3	121350949	121350949	+	Splice_Site	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:121350949T>A	ENST00000314583.3	-	13	1414	c.1323A>T	c.(1321-1323)ggA>ggT	p.G441G	HCLS1_ENST00000428394.2_Splice_Site_p.G404G|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	441	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.G441G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCAACCTACCTCCTTGGTAAT	0.542																																						uc003eeh.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1321-1323)GGA>GGT		hematopoietic cell-specific Lyn substrate 1							101.0	107.0	105.0					3																	121350949		2203	4300	6503	SO:0001630	splice_region_variant	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121350949T>A		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1324+1A>T	3.37:g.121350949T>A						HCLS1_uc011bjj.1_Silent_p.G404G	p.G441G	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	13	1448	-			441			SH3.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	c.1323A>T	CCDS3003.1																																																																																				PASS	0.542	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	Silent	37	201	37	201	---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122247311	122247311	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:122247311G>A	ENST00000360356.2	-	11	2692	c.2465C>T	c.(2464-2466)aCc>aTc	p.T822I	PARP9_ENST00000492382.1_Missense_Mutation_p.T367I|PARP9_ENST00000477522.2_Missense_Mutation_p.T787I|PARP9_ENST00000471785.1_Missense_Mutation_p.T787I	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	822	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T822I(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ATATTCCTGGGTGCATGTCCA	0.458																																						uc010hri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(2464-2466)ACC>ATC		poly (ADP-ribose) polymerase family, member 9							140.0	119.0	126.0					3																	122247311		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122247311G>A	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2465C>T	3.37:g.122247311G>A	ENSP00000353512:p.Thr822Ile					PARP9_uc003eff.3_Missense_Mutation_p.T787I|PARP9_uc011bjs.1_Missense_Mutation_p.T787I|PARP9_uc003efg.2_Missense_Mutation_p.T367I|PARP9_uc003efi.2_Missense_Mutation_p.T787I|PARP9_uc003efh.2_Missense_Mutation_p.T822I	p.T822I	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	11	2610	-			822			PARP catalytic.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.2465C>T	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	9.906	1.208334	0.22205	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457	T;T;T;T	0.11277	3.13;2.79;3.0;3.0	4.89	-0.488	0.12056	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.594677	0.15217	N	0.274137	T	0.08447	0.0210	L	0.39245	1.2	0.19300	N	0.999977	B;B;B	0.24721	0.051;0.11;0.041	B;B;B	0.17433	0.01;0.018;0.011	T	0.25117	-1.0141	10	0.48119	T	0.1	.	8.8285	0.35069	0.4832:0.0:0.5168:0.0	.	822;367;787	Q8IXQ6;G5E9U8;Q8IXQ6-2	PARP9_HUMAN;.;.	I	822;367;787;787;745	ENSP00000353512:T822I;ENSP00000417664:T367I;ENSP00000419506:T787I;ENSP00000419001:T787I	ENSP00000353512:T822I	T	-	2	0	PARP9	123730001	0.231000	0.23751	0.104000	0.21259	0.005000	0.04900	-0.061000	0.11693	0.006000	0.14734	-0.345000	0.07892	ACC		PASS	0.458	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		35	152	35	152	---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123634001	123634001	+	Silent	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:123634001T>A	ENST00000488653.2	-	13	2577	c.2487A>T	c.(2485-2487)gtA>gtT	p.V829V	CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000489746.1_Silent_p.V629V|CCDC14_ENST00000310351.4_Silent_p.V669V|CCDC14_ENST00000433542.2_Silent_p.V788V|CCDC14_ENST00000485727.1_Silent_p.V629V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	829					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.V788V(1)|p.V669V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGGAACAGATTACAGGTGTAC	0.433																																						uc011bjx.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(2485-2487)GTA>GTT		coiled-coil domain containing 14							51.0	51.0	51.0					3																	123634001		2203	4300	6503	SO:0001819	synonymous_variant	64770					centrosome		g.chr3:123634001T>A	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2487A>T	3.37:g.123634001T>A						CCDC14_uc003egv.3_Silent_p.V470V|CCDC14_uc003egx.3_Silent_p.V629V|CCDC14_uc010hrt.2_Silent_p.V788V|CCDC14_uc003egy.3_Silent_p.V629V|CCDC14_uc003egz.2_Intron	p.V829V	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	13	2578	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	829					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	37	c.2487A>T																																																																																					PASS	0.433	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		16	56	16	56	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125874343	125874343	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:125874343G>T	ENST00000393434.2	-	5	881	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.Q178K|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.Q3K|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q178K|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q188K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	178	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.Q178K(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTCACGGCCTGCACCTGGGGA	0.617																																						uc003eim.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(532-534)CAG>AAG		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						68.0	61.0	64.0					3																	125874343		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125874343G>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.532C>A	3.37:g.125874343G>T	ENSP00000377083:p.Gln178Lys					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Missense_Mutation_p.Q204K|ALDH1L1_uc003eip.1_Intron|ALDH1L1_uc011bkj.1_Missense_Mutation_p.Q3K	p.Q178K	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	5	722	-			178			GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.532C>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863264	0.51482	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;0.96	4.66	2.71	0.32032	Formyl transferase, N-terminal (3);	0.128225	0.49305	D	0.000160	T	0.61009	0.2313	L	0.29908	0.895	0.39939	D	0.974382	B;B;B	0.27380	0.177;0.044;0.005	B;B;B	0.23275	0.026;0.045;0.027	T	0.64309	-0.6438	10	0.72032	D	0.01	.	11.6033	0.51017	0.0:0.503:0.497:0.0	.	3;230;178	B4DGC8;Q59G10;O75891	.;.;AL1L1_HUMAN	K	188;178;178;178;3	ENSP00000273450:Q188K;ENSP00000420293:Q178K;ENSP00000377083:Q178K;ENSP00000377081:Q178K;ENSP00000414126:Q3K	ENSP00000273450:Q188K	Q	-	1	0	ALDH1L1	127357033	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	4.210000	0.58500	1.134000	0.42165	0.467000	0.42956	CAG		PASS	0.617	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		24	88	24	88	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129389565	129389565	+	Silent	SNP	G	G	A	rs115654568		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:129389565G>A	ENST00000393238.3	-	4	1459	c.1119C>T	c.(1117-1119)gcC>gcT	p.A373A	TMCC1_ENST00000432054.2_Silent_p.A49A|TMCC1_ENST00000329333.5_Silent_p.A194A|TMCC1_ENST00000426664.2_Silent_p.A259A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	373						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A373A(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GAATGAGTGAGGCAATCTCTC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20711	0.001		0.0	False		,,,				2504	0.0					uc003emz.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1117-1119)GCC>GCT		transmembrane and coiled-coil domain family 1							75.0	71.0	72.0					3																	129389565		2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129389565G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1119C>T	3.37:g.129389565G>A						TMCC1_uc003emy.3_Silent_p.A49A|TMCC1_uc011blc.1_Silent_p.A194A|TMCC1_uc010htg.2_Silent_p.A259A	p.A373A	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			5	1620	-			373					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.1119C>T	CCDS33855.1																																																																																				PASS	0.532	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		22	113	22	113	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130311431	130311431	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:130311431G>A	ENST00000358511.6	+	13	4350	c.4319G>A	c.(4318-4320)gGa>gAa	p.G1440E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1440E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1440	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1440E(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTACTAAGGGATGCTATGGC	0.413																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4318-4320)GGA>GAA		collagen type VI alpha 6 precursor							121.0	118.0	119.0					3																	130311431		1862	4101	5963	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130311431G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4319G>A	3.37:g.130311431G>A	ENSP00000351310:p.Gly1440Glu					COL6A6_uc003eni.3_5'UTR	p.G1440E	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			13	4350	+			1440			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4319G>A	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.48|16.48	3.135576|3.135576	0.56828|0.56828	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|D;D	.|0.99488	.|-6.0;-6.0	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.42053	.|D	.|0.000780	D|D	0.99753|0.99753	0.9901|0.9901	H|H	0.97852|0.97852	4.09|4.09	0.43703|0.43703	D|D	0.996168|0.996168	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.97274|0.97274	0.9913|0.9913	5|10	.|0.87932	.|D	.|0	.|.	17.0542|17.0542	0.86529|0.86529	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1440	.|A6NMZ7	.|CO6A6_HUMAN	N|E	219|1440	.|ENSP00000351310:G1440E;ENSP00000399236:G1440E	.|ENSP00000351310:G1440E	D|G	+|+	1|2	0|0	COL6A6|COL6A6	131794121|131794121	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.087000|0.087000	0.18053|0.18053	5.534000|5.534000	0.67167|0.67167	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	GAT|GGA		PASS	0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		13	66	13	66	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133661470	133661470	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:133661470G>T	ENST00000310926.4	-	11	1877	c.1604C>A	c.(1603-1605)cCc>cAc	p.P535H	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P459H	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	535					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.P535H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CATGTAGAGGGGGTTGTGGGA	0.582																																						uc003eqa.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1603-1605)CCC>CAC		solute carrier organic anion transporter family,							96.0	88.0	91.0					3																	133661470		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133661470G>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1604C>A	3.37:g.133661470G>T	ENSP00000311291:p.Pro535His					SLCO2A1_uc003eqb.3_Missense_Mutation_p.P459H|SLCO2A1_uc011blv.1_Missense_Mutation_p.P354H	p.P535H	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			11	1878	-			535			Helical; Name=10; (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1604C>A	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155152	0.78114	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.49139	0.79;0.79	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83015	-0.0170	10	0.87932	D	0	.	19.5387	0.95266	0.0:0.0:1.0:0.0	.	354;459;535	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	H	535;459	ENSP00000311291:P535H;ENSP00000418893:P459H	ENSP00000311291:P535H	P	-	2	0	SLCO2A1	135144160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.349000	0.97066	2.634000	0.89283	0.561000	0.74099	CCC		PASS	0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		9	86	9	86	---	---	---	---
CLDN18	51208	broad.mit.edu	37	3	137717748	137717748	+	Missense_Mutation	SNP	T	T	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:137717748T>G	ENST00000343735.4	+	1	172	c.38T>G	c.(37-39)gTt>gGt	p.V13G		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	13					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GGGTTCGTGGTTTCACTGATT	0.557																																						uc003ero.1																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(37-39)GTT>GGT		claudin 18 isoform 2							131.0	106.0	114.0					3																	137717748		2203	4300	6503	SO:0001583	missense	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137717748T>G	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.38T>G	3.37:g.137717748T>G	ENSP00000340939:p.Val13Gly						p.V13G	NM_001002026	NP_001002026	P56856	CLD18_HUMAN			1	91	+			13			Helical; (Potential).		A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000343735.4	37	c.38T>G	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006294	0.35415	.	.	ENSG00000066405	ENST00000343735	D	0.91464	-2.85	4.48	4.48	0.54585	.	0.340768	0.26907	N	0.021899	D	0.87641	0.6228	.	.	.	0.40693	D	0.982418	P	0.35684	0.515	B	0.34138	0.176	D	0.89328	0.3645	9	0.87932	D	0	.	14.2311	0.65892	0.0:0.0:0.0:1.0	.	13	P56856-2	.	G	13	ENSP00000340939:V13G	ENSP00000340939:V13G	V	+	2	0	CLDN18	139200438	0.994000	0.37717	0.449000	0.26957	0.753000	0.42808	4.911000	0.63328	2.003000	0.58678	0.460000	0.39030	GTT		PASS	0.557	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		56	180	56	180	---	---	---	---
CPA3	1359	broad.mit.edu	37	3	148601448	148601448	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:148601448C>A	ENST00000296046.3	+	9	879	c.827C>A	c.(826-828)gCa>gAa	p.A276E	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	276					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A276E(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CGGGGCTCTGCACCAGAGTCC	0.473																																						uc003ewm.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(826-828)GCA>GAA		carboxypeptidase A3 precursor							79.0	76.0	77.0					3																	148601448		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148601448C>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.827C>A	3.37:g.148601448C>A	ENSP00000296046:p.Ala276Glu						p.A276E	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		9	879	+			276					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.827C>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156445	0.21454	.	.	ENSG00000163751	ENST00000296046	T	0.11277	2.79	4.77	3.88	0.44766	Peptidase M14, carboxypeptidase A (2);	0.669480	0.15202	N	0.274955	T	0.11281	0.0275	L	0.41710	1.295	0.09310	N	0.999999	B	0.16603	0.018	B	0.23419	0.046	T	0.20706	-1.0267	10	0.30854	T	0.27	.	13.0633	0.59020	0.172:0.828:0.0:0.0	.	276	P15088	CBPA3_HUMAN	E	276	ENSP00000296046:A276E	ENSP00000296046:A276E	A	+	2	0	CPA3	150084138	0.014000	0.17966	0.097000	0.21041	0.078000	0.17371	2.275000	0.43399	1.201000	0.43203	0.460000	0.39030	GCA		PASS	0.473	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		35	158	35	158	---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154145492	154145492	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:154145492G>T	ENST00000389740.2	-	2	1086	c.987C>A	c.(985-987)caC>caA	p.H329Q		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	329					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H329Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGACCACCATGTGCATCTGCA	0.498																																						uc003faa.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(985-987)CAC>CAA		G protein-coupled receptor 149							63.0	65.0	64.0					3																	154145492		2085	4228	6313	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154145492G>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.987C>A	3.37:g.154145492G>T	ENSP00000374390:p.His329Gln						p.H329Q	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	1087	-			329			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.987C>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	9.762	1.170376	0.21621	.	.	ENSG00000174948	ENST00000389740	T	0.71817	-0.6	6.03	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.254097	0.40469	N	0.001087	T	0.46308	0.1386	N	0.20401	0.57	0.30775	N	0.742618	B	0.14012	0.009	B	0.13407	0.009	T	0.35574	-0.9783	10	0.08837	T	0.75	-13.7024	3.7886	0.08710	0.0744:0.2129:0.4227:0.29	.	329	Q86SP6	GP149_HUMAN	Q	329	ENSP00000374390:H329Q	ENSP00000374390:H329Q	H	-	3	2	GPR149	155628186	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	0.953000	0.29162	1.561000	0.49584	0.655000	0.94253	CAC		PASS	0.498	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		9	107	9	107	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164908235	164908235	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:164908235C>A	ENST00000475390.1	-	2	827	c.384G>T	c.(382-384)aaG>aaT	p.K128N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.K128N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	128					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.K128N(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						GATATAGTCTCTTTAAAATCT	0.353										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(382-384)AAG>AAT		slit and trk like 3 protein precursor							43.0	42.0	42.0					3																	164908235		2202	4300	6502	SO:0001583	missense	22865					integral to membrane		g.chr3:164908235C>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.384G>T	3.37:g.164908235C>A	ENSP00000420091:p.Lys128Asn	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.K128N	p.K128N	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	828	-			128			LRR 3.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.384G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125292	0.37533	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.60299	0.2;0.2;0.2	5.99	3.22	0.36961	.	0.000000	0.39615	N	0.001311	T	0.56963	0.2021	L	0.52266	1.64	0.34375	D	0.692457	P	0.51791	0.948	P	0.49528	0.614	T	0.66396	-0.5934	10	0.46703	T	0.11	-21.3101	10.4975	0.44785	0.0:0.743:0.0:0.257	.	128	O94933	SLIK3_HUMAN	N	128	ENSP00000420091:K128N;ENSP00000241274:K128N;ENSP00000419611:K128N	ENSP00000241274:K128N	K	-	3	2	SLITRK3	166390929	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	1.146000	0.31589	0.413000	0.25759	0.655000	0.94253	AAG		PASS	0.353	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		28	103	28	103	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165491250	165491250	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:165491250G>A	ENST00000264381.3	-	4	1895	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	BCHE_ENST00000540653.1_Missense_Mutation_p.R39C	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	577					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.R577C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTGTTCCAGCGATGGAATCCT	0.318																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1729-1731)CGC>TGC		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						119.0	113.0	115.0					3																	165491250		2202	4300	6502	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165491250G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1729C>T	3.37:g.165491250G>A	ENSP00000264381:p.Arg577Cys					BCHE_uc003fen.3_RNA	p.R577C	NM_000055	NP_000046	P06276	CHLE_HUMAN			4	1889	-			577					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1729C>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.368846	0.82463	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653	T;T;T	0.79554	-0.28;-1.28;-1.28	5.03	5.03	0.67393	Acetylcholinesterase, tetramerisation (2);	0.166448	0.41500	D	0.000876	D	0.89164	0.6637	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.65323	0.934	D	0.90614	0.4554	10	0.87932	D	0	.	17.7107	0.88321	0.0:0.0:1.0:0.0	.	577	P06276	CHLE_HUMAN	C	577;107;39	ENSP00000264381:R577C;ENSP00000418325:R107C;ENSP00000443583:R39C	ENSP00000264381:R577C	R	-	1	0	BCHE	166973944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.235000	0.89803	2.482000	0.83794	0.650000	0.86243	CGC		PASS	0.318	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			12	98	12	98	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182947497	182947497	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:182947497A>C	ENST00000328913.3	-	17	2299	c.2002T>G	c.(2002-2004)Ttt>Gtt	p.F668V	MCF2L2_ENST00000447025.2_Missense_Mutation_p.F668V|MCF2L2_ENST00000473233.1_Missense_Mutation_p.F668V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	668	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F668V(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCAAAGAGAAAGTCCTTGTTA	0.353																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(2002-2004)TTT>GTT		Rho family guanine-nucleotide exchange factor							130.0	136.0	134.0					3																	182947497		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182947497A>C	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2002T>G	3.37:g.182947497A>C	ENSP00000328118:p.Phe668Val					MCF2L2_uc003flj.1_Missense_Mutation_p.F668V|MCF2L2_uc011bqr.1_RNA	p.F668V	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		17	2092	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		668			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2002T>G	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	A	7.687	0.690269	0.15039	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	T;T;T	0.62232	0.04;0.04;0.04	5.06	-0.792	0.10925	Dbl homology (DH) domain (5);	0.346016	0.27289	N	0.020045	T	0.11410	0.0278	N	0.00038	-2.515	0.80722	D	1	B;P	0.39216	0.003;0.664	B;B	0.37888	0.008;0.26	T	0.40194	-0.9576	10	0.02654	T	1	.	2.9393	0.05825	0.3759:0.0:0.2092:0.415	.	668;668	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	V	668	ENSP00000328118:F668V;ENSP00000420070:F668V;ENSP00000388190:F668V	ENSP00000328118:F668V	F	-	1	0	MCF2L2	184430191	0.179000	0.23135	0.985000	0.45067	0.997000	0.91878	-0.002000	0.12924	-0.020000	0.14032	0.533000	0.62120	TTT		PASS	0.353	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		19	260	19	260	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193232568	193232568	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:193232568G>C	ENST00000342695.4	-	2	475	c.153C>G	c.(151-153)taC>taG	p.Y51*	ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.Y51*|ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.Y51*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	51						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.Y51*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTGGTCTCCAGTAAAACACCA	0.507																																						uc003ftd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(151-153)TAC>TAG		ATPase type 13A4							143.0	128.0	133.0					3																	193232568		2203	4300	6503	SO:0001587	stop_gained	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193232568G>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.153C>G	3.37:g.193232568G>C	ENSP00000339182:p.Tyr51*					ATP13A4_uc003fte.1_Nonsense_Mutation_p.Y51*|ATP13A4_uc011bsr.1_5'UTR	p.Y51*	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	2	261	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		51			Helical; (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	ENST00000342695.4	37	c.153C>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582302	0.86748	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	.	.	.	5.62	2.83	0.33086	.	0.000000	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5993	9.1644	0.37043	0.2362:0.0:0.7638:0.0	.	.	.	.	X	51	.	ENSP00000295548:Y51X	Y	-	3	2	ATP13A4	194715262	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.333000	0.43912	0.704000	0.31869	0.655000	0.94253	TAC		PASS	0.507	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		95	126	95	126	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118758	194118758	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:194118758T>A	ENST00000401815.1	-	1	325	c.254A>T	c.(253-255)cAc>cTc	p.H85L	GP5_ENST00000323007.3_Missense_Mutation_p.H85L			P40197	GPV_HUMAN	glycoprotein V (platelet)	85					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.H85L(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCGGAAATGTGGCTGTCGGA	0.602																																						uc003ftv.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|breast(1)	3						c.(253-255)CAC>CTC		glycoprotein V (platelet) precursor							66.0	69.0	68.0					3																	194118758		2203	4300	6503	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118758T>A	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.254A>T	3.37:g.194118758T>A	ENSP00000383931:p.His85Leu						p.H85L	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	285	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	85			LRR 1.|Extracellular (Potential).		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.254A>T	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276590	0.59758	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	D;D	0.89552	-2.53;-2.53	4.72	0.523	0.17060	.	0.195050	0.25445	N	0.030624	T	0.78123	0.4234	L	0.38692	1.165	0.31468	N	0.668721	P	0.44195	0.828	B	0.33799	0.17	T	0.75263	-0.3379	10	0.51188	T	0.08	.	7.5935	0.28035	0.0:0.1131:0.4129:0.474	.	85	P40197	GPV_HUMAN	L	85	ENSP00000383931:H85L;ENSP00000319286:H85L	ENSP00000319286:H85L	H	-	2	0	GP5	195600047	0.012000	0.17670	0.995000	0.50966	0.564000	0.35744	0.029000	0.13666	-0.019000	0.14055	0.459000	0.35465	CAC		PASS	0.602	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		15	127	15	127	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196387449	196387449	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:196387449A>G	ENST00000328557.4	+	3	1138	c.935A>G	c.(934-936)aAc>aGc	p.N312S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	312					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N312S(1)									AACGTGACCAACATCACCACC	0.597																																						uc003fwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(934-936)AAC>AGC		leucine rich repeat containing 33 precursor							111.0	105.0	107.0					3																	196387449		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196387449A>G	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.935A>G	3.37:g.196387449A>G	ENSP00000328625:p.Asn312Ser						p.N312S	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	1039	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		312			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328557.4	37	c.935A>G	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810480	0.32053	.	.	ENSG00000174004	ENST00000328557	T	0.49720	0.77	6.08	3.58	0.41010	.	0.198435	0.51477	D	0.000092	T	0.22399	0.0540	N	0.19112	0.55	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.06092	-1.0846	10	0.10377	T	0.69	.	7.7018	0.28627	0.6784:0.254:0.0676:0.0	.	312	Q86YC3	LRC33_HUMAN	S	312	ENSP00000328625:N312S	ENSP00000328625:N312S	N	+	2	0	LRRC33	197871846	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	3.338000	0.52128	1.116000	0.41820	0.533000	0.62120	AAC		PASS	0.597	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		25	155	25	155	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196387891	196387891	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr3:196387891G>T	ENST00000328557.4	+	3	1580	c.1377G>T	c.(1375-1377)agG>agT	p.R459S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	459					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R459S(1)									TGGATTTCAGGAATATGGCAT	0.567																																						uc003fwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1375-1377)AGG>AGT		leucine rich repeat containing 33 precursor							101.0	103.0	103.0					3																	196387891		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196387891G>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1377G>T	3.37:g.196387891G>T	ENSP00000328625:p.Arg459Ser						p.R459S	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	1481	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		459			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328557.4	37	c.1377G>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217766	0.39201	.	.	ENSG00000174004	ENST00000328557	T	0.48522	0.81	5.83	-2.57	0.06248	.	0.393472	0.26099	N	0.026359	T	0.26593	0.0650	L	0.39566	1.225	0.09310	N	0.999991	P	0.40144	0.704	B	0.34536	0.185	T	0.15954	-1.0419	10	0.36615	T	0.2	.	4.2566	0.10721	0.472:0.096:0.3348:0.0972	.	459	Q86YC3	LRC33_HUMAN	S	459	ENSP00000328625:R459S	ENSP00000328625:R459S	R	+	3	2	LRRC33	197872288	0.974000	0.33945	0.580000	0.28601	0.971000	0.66376	0.168000	0.16622	-0.395000	0.07715	0.655000	0.94253	AGG		PASS	0.567	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		40	264	40	264	---	---	---	---
GAK	2580	broad.mit.edu	37	4	853487	853487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:853487G>A	ENST00000314167.4	-	24	3300	c.3190C>T	c.(3190-3192)Cag>Tag	p.Q1064*	GAK_ENST00000511163.1_Nonsense_Mutation_p.Q985*|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1064					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q1064*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGGCCGGCTGACCTCCAGGA	0.617																																						uc003gbm.3																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(3190-3192)CAG>TAG		cyclin G associated kinase							45.0	52.0	50.0					4																	853487		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:853487G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3190C>T	4.37:g.853487G>A	ENSP00000314499:p.Gln1064*					GAK_uc003gbn.3_Nonsense_Mutation_p.Q985*|GAK_uc010ibi.2_Nonsense_Mutation_p.Q245*|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Nonsense_Mutation_p.Q917*	p.Q1064*	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	24	3389	-			1064					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3190C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.78|15.78	2.933441|2.933441	0.52866|0.52866	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	1.124320|.	0.06546|.	N|.	0.744150|.	.|T	.|0.65811	.|0.2727	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71227	.|-0.4655	.|3	0.05959|.	T|.	0.93|.	-13.1067|-13.1067	15.0589|15.0589	0.71936|0.71936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	340;1064;985|183	.|.	ENSP00000314499:Q1064X|.	Q|S	-|-	1|2	0|0	GAK|GAK	843487|843487	1.000000|1.000000	0.71417|0.71417	0.409000|0.409000	0.26459|0.26459	0.111000|0.111000	0.19643|0.19643	6.328000|6.328000	0.72915|0.72915	2.132000|2.132000	0.65825|0.65825	0.511000|0.511000	0.50034|0.50034	CAG|TCA		PASS	0.617	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		20	110	20	110	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1920071	1920071	+	Silent	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:1920071A>T	ENST00000382895.3	+	7	1562	c.1131A>T	c.(1129-1131)tcA>tcT	p.S377S	WHSC1_ENST00000503128.1_Silent_p.S377S|WHSC1_ENST00000508803.1_Silent_p.S377S|WHSC1_ENST00000382891.5_Silent_p.S377S|WHSC1_ENST00000382892.2_Silent_p.S377S|WHSC1_ENST00000514045.1_Silent_p.S377S|WHSC1_ENST00000420906.2_Silent_p.S377S|WHSC1_ENST00000398261.1_Silent_p.S377S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	377					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S377S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CAGAATCCTCAGGAGTCAGTG	0.517			T	IGH@	MM																																	uc003gdz.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1129-1131)TCA>TCT		Wolf-Hirschhorn syndrome candidate 1 protein							71.0	72.0	72.0					4																	1920071		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1920071A>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1131A>T	4.37:g.1920071A>T						WHSC1_uc003geb.3_Silent_p.S377S|WHSC1_uc003gec.3_Silent_p.S377S|WHSC1_uc003ged.3_Silent_p.S377S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Silent_p.S377S|WHSC1_uc003gdy.1_Silent_p.S377S|WHSC1_uc010icd.1_Silent_p.S377S|WHSC1_uc003gea.1_Silent_p.S377S|WHSC1_uc010ice.1_Silent_p.S377S|WHSC1_uc003geh.1_Silent_p.S377S	p.S377S	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	5	1307	+		all_epithelial(65;1.34e-05)	377					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.1131A>T	CCDS33940.1																																																																																				PASS	0.517	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		36	108	36	108	---	---	---	---
POLN	353497	broad.mit.edu	37	4	2130962	2130962	+	Missense_Mutation	SNP	G	G	T	rs376518009		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:2130962G>T	ENST00000511885.2	-	18	2164	c.1811C>A	c.(1810-1812)aCg>aAg	p.T604K	POLN_ENST00000382865.1_Missense_Mutation_p.T604K			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	604					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.T604K(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)			CGGGGAGATCGTGAGAATCTT	0.393								DNA polymerases (catalytic subunits)																														uc003ger.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|ovary(1)|skin(1)	4						c.(1810-1812)ACG>AAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							141.0	127.0	132.0					4																	2130962		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2130962G>T	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.1811C>A	4.37:g.2130962G>T	ENSP00000435506:p.Thr604Lys					POLN_uc010icg.1_Missense_Mutation_p.T52K|POLN_uc010ich.1_Missense_Mutation_p.T136K	p.T604K	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		16	1811	-			604					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1811C>A	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341316	0.24339	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	D;D	0.96554	-4.05;-4.05	4.54	1.67	0.24075	DNA-directed DNA polymerase, family A, palm domain (2);	0.293232	0.32273	N	0.006331	D	0.94029	0.8087	L	0.35723	1.085	0.09310	N	1	P;P;D	0.52996	0.771;0.715;0.957	P;B;P	0.52109	0.479;0.339;0.69	D	0.88302	0.2950	10	0.87932	D	0	-2.9723	6.4878	0.22099	0.101:0.3546:0.5444:0.0	.	135;295;604	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	K	604;604;295;135	ENSP00000435506:T604K;ENSP00000372316:T604K	ENSP00000253313:T295K	T	-	2	0	POLN	2100760	0.798000	0.28890	0.009000	0.14445	0.035000	0.12851	1.428000	0.34892	0.079000	0.16929	0.555000	0.69702	ACG		PASS	0.393	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		11	73	11	73	---	---	---	---
CYTL1	54360	broad.mit.edu	37	4	5018600	5018600	+	Missense_Mutation	SNP	C	C	T	rs138259359		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:5018600C>T	ENST00000307746.4	-	3	316	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	97					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)	p.R97Q(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GTACAGCTTCCGTGCTTTGTC	0.493																																					Colon(15;457 478 29696 43408 47165)	uc003gig.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(289-291)CGG>CAG		cytokine-like 1 precursor		C	GLN/ARG	0,4406		0,0,2203	134.0	134.0	134.0		290	4.1	1.0	4	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYTL1	NM_018659.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	97/137	5018600	1,13005	2203	4300	6503	SO:0001583	missense	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5018600C>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.290G>A	4.37:g.5018600C>T	ENSP00000303550:p.Arg97Gln						p.R97Q	NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	3	315	-			97						Missense_Mutation	SNP	ENST00000307746.4	37	c.290G>A	CCDS3379.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296963	0.60086	0.0	1.16E-4	ENSG00000170891	ENST00000307746	T	0.32753	1.44	4.94	4.1	0.47936	.	0.146982	0.48286	D	0.000181	T	0.46852	0.1414	L	0.58428	1.81	0.41451	D	0.987981	D	0.89917	1.0	D	0.75020	0.985	T	0.38499	-0.9658	10	0.44086	T	0.13	-24.0795	9.1171	0.36764	0.0:0.8989:0.0:0.1011	.	97	Q9NRR1	CYTL1_HUMAN	Q	97	ENSP00000303550:R97Q	ENSP00000303550:R97Q	R	-	2	0	CYTL1	5069501	0.993000	0.37304	0.994000	0.49952	0.548000	0.35241	2.423000	0.44705	1.083000	0.41159	0.561000	0.74099	CGG		PASS	0.493	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		51	291	51	291	---	---	---	---
STK32B	55351	broad.mit.edu	37	4	5141673	5141674	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:5141673_5141674GG>CT	ENST00000282908.5	+	2	516_517	c.94_95GG>CT	c.(94-96)GGg>CTg	p.G32L	STK32B_ENST00000512636.1_5'UTR|STK32B_ENST00000510398.1_5'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.G32L(1)|p.G32V(1)|p.G32R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CATTGGTAAAGGGAGTTTTGGA	0.406																																						uc003gih.1																			3	Substitution - Missense(3)		lung(3)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(94-96)GGG>CGG|c.(94-96)GGG>GTG		serine/threonine kinase 32B																																				SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5141673G>C|g.chr4:5141674G>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	Exception_encountered	4.37:g.5141673_5141674delinsCT	ENSP00000282908:p.Gly32Leu					STK32B_uc010ida.1_5'UTR	p.G32R|p.G32V	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			2	158|159	+			32			ATP (By similarity).|Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.94G>C|c.95G>T	CCDS3380.1																																																																																				PASS	0.406	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		56|53	207|209	53	207	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5620295	5620295	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:5620295C>A	ENST00000344408.5	-	15	2669	c.2616G>T	c.(2614-2616)cgG>cgT	p.R872R	EVC2_ENST00000344938.1_Silent_p.R872R|EVC2_ENST00000310917.2_Silent_p.R792R	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	872					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R872R(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GAACTCGGGCCCGGATCTTGG	0.602																																						uc003gij.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(2614-2616)CGG>CGT		limbin							43.0	42.0	42.0					4																	5620295		2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5620295C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2616G>T	4.37:g.5620295C>A						EVC2_uc011bwb.1_Silent_p.R312R|EVC2_uc003gik.2_Silent_p.R792R	p.R872R	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			15	2670	-			872					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.2616G>T	CCDS3382.2																																																																																				PASS	0.602	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		26	64	26	64	---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	6925386	6925386	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:6925386G>T	ENST00000409757.4	+	2	394	c.270G>T	c.(268-270)caG>caT	p.Q90H	TBC1D14_ENST00000448507.1_Missense_Mutation_p.Q90H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	90					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.Q75H(1)|p.Q90H(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GGAGGAAGCAGTCCGACTCCG	0.682																																						uc011bwg.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(268-270)CAG>CAT		TBC1 domain family, member 14 isoform a							57.0	63.0	61.0					4																	6925386		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6925386G>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.270G>T	4.37:g.6925386G>T	ENSP00000386921:p.Gln90His					TBC1D14_uc003gjs.3_Missense_Mutation_p.Q90H	p.Q90H	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			2	349	+			90					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.270G>T	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	9.189	1.025460	0.19512	.	.	ENSG00000132405	ENST00000444368;ENST00000448507;ENST00000409757	T;T;T	0.53206	0.63;3.42;3.42	4.83	-0.14	0.13456	.	0.403282	0.23997	N	0.042507	T	0.28532	0.0706	N	0.19112	0.55	0.09310	N	0.999999	P	0.44195	0.828	B	0.40101	0.319	T	0.19192	-1.0313	10	0.48119	T	0.1	-2.7424	8.9594	0.35838	0.4517:0.0:0.5483:0.0	.	90	Q9P2M4	TBC14_HUMAN	H	90	ENSP00000414951:Q90H;ENSP00000404041:Q90H;ENSP00000386921:Q90H	ENSP00000386921:Q90H	Q	+	3	2	TBC1D14	6976287	0.000000	0.05858	0.008000	0.14137	0.173000	0.22820	-1.118000	0.03280	-0.031000	0.13781	0.655000	0.94253	CAG		PASS	0.682	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		40	104	40	104	---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23803878	23803878	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:23803878C>G	ENST00000264867.2	-	11	2229	c.2110G>C	c.(2110-2112)Gag>Cag	p.E704Q	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	704	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E704Q(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTGCACTCCTCAATTTCACCA	0.423																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(2110-2112)GAG>CAG		peroxisome proliferator-activated receptor							142.0	131.0	135.0					4																	23803878		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23803878C>G	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2110G>C	4.37:g.23803878C>G	ENSP00000264867:p.Glu704Gln					PPARGC1A_uc003gqt.2_RNA	p.E704Q	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			11	2230	-		Breast(46;0.0503)	704			RRM.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.2110G>C	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	c	18.23	3.577301	0.65878	.	.	ENSG00000109819	ENST00000264867	T	0.47177	0.85	5.41	5.41	0.78517	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.094394	0.64402	D	0.000001	T	0.57475	0.2056	M	0.62209	1.925	0.80722	D	1	P	0.42620	0.785	P	0.47162	0.54	T	0.58544	-0.7618	10	0.52906	T	0.07	-9.6549	19.547	0.95302	0.0:1.0:0.0:0.0	.	704	Q9UBK2	PRGC1_HUMAN	Q	704	ENSP00000264867:E704Q	ENSP00000264867:E704Q	E	-	1	0	PPARGC1A	23412976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.443000	0.80521	2.697000	0.92050	0.457000	0.33378	GAG		PASS	0.423	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		20	162	20	162	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36179599	36179599	+	Silent	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:36179599T>C	ENST00000303965.4	-	9	2196	c.1707A>G	c.(1705-1707)ctA>ctG	p.L569L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	569	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.L569L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTGCATTTAATAGTATGCTGA	0.368																																						uc003gsq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1705-1707)CTA>CTG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							107.0	105.0	105.0					4																	36179599		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36179599T>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1707A>G	4.37:g.36179599T>C						ARAP2_uc003gsr.1_Silent_p.L569L	p.L569L	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			9	2045	-			569			PH 1.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.1707A>G	CCDS3441.1																																																																																				PASS	0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		34	87	34	87	---	---	---	---
WDR19	57728	broad.mit.edu	37	4	39219646	39219646	+	Missense_Mutation	SNP	G	G	C	rs199991653		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:39219646G>C	ENST00000399820.3	+	14	1554	c.1400G>C	c.(1399-1401)cGg>cCg	p.R467P	WDR19_ENST00000506503.1_Missense_Mutation_p.G466R|WDR19_ENST00000288634.7_Missense_Mutation_p.R307P	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	467					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.R467P(2)		large_intestine(1)	1						CGTGAGACTCGGCTTTTCCCA	0.373																																						uc003gtv.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1399-1401)CGG>CCG		WD repeat domain 19							247.0	241.0	243.0					4																	39219646		1915	4128	6043	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39219646G>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1400G>C	4.37:g.39219646G>C	ENSP00000382717:p.Arg467Pro					WDR19_uc003gtu.1_Missense_Mutation_p.G466R|WDR19_uc011byi.1_Missense_Mutation_p.R307P|WDR19_uc003gtw.1_Missense_Mutation_p.R64P	p.R467P	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			14	1554	+			467					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.1400G>C	CCDS47042.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.035072|4.035072	0.75617|0.75617	.|.	.|.	ENSG00000157796|ENSG00000157796	ENST00000506503;ENST00000399836|ENST00000399820;ENST00000288634	T|D;D	0.36520|0.95588	1.25|-3.75;-3.75	5.5|5.5	5.5|5.5	0.81552|0.81552	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.051225	.|0.85682	.|D	.|0.000000	D|D	0.95755|0.95755	0.8619|0.8619	M|M	0.68317|0.68317	2.08|2.08	0.48696|0.48696	D|D	0.999691|0.999691	P|P	0.42203|0.46220	0.773|0.874	B|P	0.43360|0.47470	0.417|0.548	D|D	0.94877|0.94877	0.8035|0.8035	9|10	0.28530|0.36615	T|T	0.3|0.2	-13.2319|-13.2319	19.3889|19.3889	0.94570|0.94570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	466|467	D6R9P6|Q8NEZ3	.|WDR19_HUMAN	R|P	466;465|467;307	ENSP00000423491:G466R|ENSP00000382717:R467P;ENSP00000288634:R307P	ENSP00000382730:G465R|ENSP00000288634:R307P	G|R	+|+	1|2	0|0	WDR19|WDR19	38896041|38896041	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.932000|0.932000	0.56968|0.56968	6.643000|6.643000	0.74334|0.74334	2.600000|2.600000	0.87896|0.87896	0.491000|0.491000	0.48974|0.48974	GGC|CGG		PASS	0.373	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			56	353	56	353	---	---	---	---
TEC	7006	broad.mit.edu	37	4	48147470	48147470	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:48147470C>A	ENST00000381501.3	-	13	1365	c.1208G>T	c.(1207-1209)gGt>gTt	p.G403V	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G403V(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GCACATTGCACCTTCCCGAAT	0.448																																						uc003gxz.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(1207-1209)GGT>GTT		tec protein tyrosine kinase							166.0	143.0	151.0					4																	48147470		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48147470C>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1208G>T	4.37:g.48147470C>A	ENSP00000370912:p.Gly403Val						p.G403V	NM_003215	NP_003206	P42680	TEC_HUMAN			13	1299	-			403			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1208G>T	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843961	0.91197	.	.	ENSG00000135605	ENST00000381501	D	0.82984	-1.67	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	N	0.21097	0.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88308	0.2954	10	0.87932	D	0	.	19.6476	0.95789	0.0:1.0:0.0:0.0	.	403	P42680	TEC_HUMAN	V	403	ENSP00000370912:G403V	ENSP00000370912:G403V	G	-	2	0	TEC	47842227	1.000000	0.71417	0.988000	0.46212	0.941000	0.58515	7.792000	0.85828	2.644000	0.89710	0.491000	0.48974	GGT		PASS	0.448	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			58	202	58	202	---	---	---	---
TMPRSS11E	28983	broad.mit.edu	37	4	69337231	69337231	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:69337231C>G	ENST00000305363.4	+	5	444	c.380C>G	c.(379-381)tCt>tGt	p.S127C		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	127	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S127C(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGATTTCACTCTACTGAGGAT	0.378																																						uc003hdz.3																			1	Substitution - Missense(1)		lung(1)								c.(379-381)TCT>TGT		transmembrane protease, serine 11E							199.0	209.0	205.0					4																	69337231		2203	4300	6503	SO:0001583	missense	0							g.chr4:69337231C>G	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.380C>G	4.37:g.69337231C>G	ENSP00000307519:p.Ser127Cys						p.S127C	NM_014058	NP_054777					5	444	+								A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.380C>G	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	c	13.48	2.250836	0.39797	.	.	ENSG00000087128	ENST00000305363	T	0.42900	0.96	5.97	5.12	0.69794	SEA (1);	0.261479	0.27424	N	0.019437	T	0.51398	0.1672	L	0.34521	1.04	0.31786	N	0.630216	D	0.76494	0.999	D	0.70487	0.969	T	0.59852	-0.7376	10	0.51188	T	0.08	.	12.5317	0.56120	0.1666:0.8334:0.0:0.0	.	127	Q9UL52	TM11E_HUMAN	C	127	ENSP00000307519:S127C	ENSP00000307519:S127C	S	+	2	0	TMPRSS11E	69019826	1.000000	0.71417	0.997000	0.53966	0.352000	0.29268	2.469000	0.45110	1.510000	0.48803	0.586000	0.80456	TCT		PASS	0.378	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		73	538	73	538	---	---	---	---
UGT2B15	7366	broad.mit.edu	37	4	69513034	69513034	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:69513034C>A	ENST00000338206.5	-	6	1390	c.1381G>T	c.(1381-1383)Gca>Tca	p.A461S		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	461					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A461S(1)								Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	CAGAAGACTGCTCGATCCAGG	0.423																																						uc011cal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)GCA>TCA		UDP glycosyltransferase 2B15 precursor							132.0	133.0	133.0					4																	69513034		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69513034C>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1381G>T	4.37:g.69513034C>A	ENSP00000341045:p.Ala461Ser						p.A461S	NM_001076	NP_001067	P54855	UDB15_HUMAN			6	1419	-			461					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1381G>T	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	17.63	3.436653	0.62955	.	.	ENSG00000196620	ENST00000338206	T	0.71103	-0.54	2.96	2.96	0.34315	.	0.000000	0.64402	U	0.000003	D	0.85669	0.5750	M	0.92880	3.355	0.29958	N	0.819664	D	0.71674	0.998	D	0.79108	0.992	T	0.82892	-0.0232	10	0.62326	D	0.03	.	11.4447	0.50116	0.0:1.0:0.0:0.0	.	461	P54855	UDB15_HUMAN	S	461	ENSP00000341045:A461S	ENSP00000341045:A461S	A	-	1	0	UGT2B15	69195629	0.977000	0.34250	0.117000	0.21633	0.707000	0.40811	2.517000	0.45529	1.485000	0.48380	0.552000	0.68991	GCA		PASS	0.423	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		78	208	78	208	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71508517	71508517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:71508517G>A	ENST00000396073.3	+	9	1655	c.1374G>A	c.(1372-1374)tgG>tgA	p.W458*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	458					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.W458*(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCAGCCCCTGGAGAAACTCTC	0.388																																						uc011caw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1372-1374)TGG>TGA		enamelin precursor							34.0	37.0	36.0					4																	71508517		2178	4294	6472	SO:0001587	stop_gained	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508517G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1374G>A	4.37:g.71508517G>A	ENSP00000379383:p.Trp458*						p.W458*	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1655	+			458					Q17RI5|Q9H3D1	Nonsense_Mutation	SNP	ENST00000396073.3	37	c.1374G>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	36	5.738726	0.96873	.	.	ENSG00000132464	ENST00000396073	.	.	.	5.93	5.93	0.95920	.	0.118236	0.39615	N	0.001318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0203	15.854	0.78960	0.0:0.0:1.0:0.0	.	.	.	.	X	458	.	ENSP00000379383:W458X	W	+	3	0	ENAM	71727381	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	5.206000	0.65192	2.826000	0.97356	0.655000	0.94253	TGG		PASS	0.388	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		22	74	22	74	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71509842	71509842	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:71509842C>G	ENST00000396073.3	+	9	2980	c.2699C>G	c.(2698-2700)cCt>cGt	p.P900R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	900					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.P900R(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGTCTTGCACCTGGGGAGAAC	0.517																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2698-2700)CCT>CGT		enamelin precursor							84.0	75.0	78.0					4																	71509842		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509842C>G	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2699C>G	4.37:g.71509842C>G	ENSP00000379383:p.Pro900Arg						p.P900R	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2980	+			900					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.2699C>G	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424709	0.43020	.	.	ENSG00000132464	ENST00000396073	T	0.35421	1.31	5.74	2.13	0.27403	.	0.119866	0.38663	N	0.001605	T	0.53318	0.1789	M	0.77820	2.39	0.27043	N	0.963961	D	0.65815	0.995	D	0.69142	0.962	T	0.43228	-0.9404	10	0.51188	T	0.08	-1.6961	7.0153	0.24885	0.0:0.6462:0.0:0.3538	.	900	Q9NRM1	ENAM_HUMAN	R	900	ENSP00000379383:P900R	ENSP00000379383:P900R	P	+	2	0	ENAM	71728706	0.180000	0.23148	0.961000	0.40146	0.922000	0.55478	0.141000	0.16076	0.372000	0.24591	0.561000	0.74099	CCT		PASS	0.517	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		39	110	39	110	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73179413	73179413	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:73179413G>C	ENST00000286657.4	-	12	1762	c.1726C>G	c.(1726-1728)Cgc>Ggc	p.R576G		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	576	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.R576G(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)			TTGCACTGGCGTGTTCTGAAA	0.378																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1726-1728)CGC>GGC		ADAM metallopeptidase with thrombospondin type 1							113.0	89.0	97.0					4																	73179413		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.chr4:73179413G>C	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.1726C>G	4.37:g.73179413G>C	ENSP00000286657:p.Arg576Gly					ADAMTS3_uc003hgl.2_5'Flank	p.R576G	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)		12	1763	-			576			TSP type-1 1.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1726C>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937603	0.73557	.	.	ENSG00000156140	ENST00000286657	T	0.65364	-0.15	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.88614	0.6484	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92810	0.6263	10	0.87932	D	0	.	16.0689	0.80909	0.0:0.0:0.8654:0.1346	.	576	O15072	ATS3_HUMAN	G	576	ENSP00000286657:R576G	ENSP00000286657:R576G	R	-	1	0	ADAMTS3	73398277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.602000	0.74141	2.857000	0.98124	0.650000	0.86243	CGC		PASS	0.378	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	107	13	107	---	---	---	---
NUDT9	53343	broad.mit.edu	37	4	88356355	88356355	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:88356355G>T	ENST00000302174.4	+	2	654	c.330G>T	c.(328-330)tgG>tgT	p.W110C	NUDT9_ENST00000473942.1_Missense_Mutation_p.W60C	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	110					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.W110C(1)		endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GACCCAGGTGGGCAGATCCTC	0.453																																						uc003hqq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)TGG>TGT		nudix-type motif 9 isoform a							78.0	82.0	81.0					4																	88356355		2203	4300	6503	SO:0001583	missense	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88356355G>T	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.330G>T	4.37:g.88356355G>T	ENSP00000303575:p.Trp110Cys					NUDT9_uc003hqr.2_Missense_Mutation_p.W60C|NUDT9_uc010ikl.2_Missense_Mutation_p.W110C	p.W110C	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	2	653	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	110					Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000302174.4	37	c.330G>T	CCDS3620.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687315	0.68157	.	.	ENSG00000170502	ENST00000302174;ENST00000512216;ENST00000473942;ENST00000440591	T;T;T;T	0.75154	-0.91;-0.91;-0.91;2.44	4.94	4.94	0.65067	NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91254	0.5031	10	0.87932	D	0	-11.1808	15.6731	0.77295	0.0:0.0:1.0:0.0	.	110;110	Q96KB3;Q9BW91	.;NUDT9_HUMAN	C	110;60;60;110	ENSP00000303575:W110C;ENSP00000424702:W60C;ENSP00000421811:W60C;ENSP00000410270:W110C	ENSP00000303575:W110C	W	+	3	0	NUDT9	88575379	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.439000	0.80444	2.438000	0.82558	0.467000	0.42956	TGG		PASS	0.453	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			30	60	30	60	---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88732843	88732843	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:88732843A>C	ENST00000226284.5	+	7	802	c.735A>C	c.(733-735)agA>agC	p.R245S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	245					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.R245S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAGTCTATAGAACCACTTCCC	0.502																																						uc003hqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)AGA>AGC		integrin-binding sialoprotein precursor							76.0	73.0	74.0					4																	88732843		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732843A>C		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.735A>C	4.37:g.88732843A>C	ENSP00000226284:p.Arg245Ser						p.R245S	NM_004967	NP_004958	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	833	+		Hepatocellular(203;0.114)	245						Missense_Mutation	SNP	ENST00000226284.5	37	c.735A>C	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	A	9.440	1.087857	0.20390	.	.	ENSG00000029559	ENST00000226284	T	0.10288	2.89	5.36	-0.782	0.10961	.	0.689328	0.14327	N	0.326621	T	0.07098	0.0180	L	0.36672	1.1	0.09310	N	1	B	0.25772	0.134	B	0.19946	0.027	T	0.38090	-0.9677	10	0.23302	T	0.38	.	7.0179	0.24899	0.348:0.1171:0.5349:0.0	.	245	P21815	SIAL_HUMAN	S	245	ENSP00000226284:R245S	ENSP00000226284:R245S	R	+	3	2	IBSP	88951867	0.000000	0.05858	0.070000	0.20053	0.013000	0.08279	0.043000	0.13971	-0.100000	0.12241	-0.326000	0.08463	AGA		PASS	0.502	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			18	49	18	49	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107156479	107156479	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:107156479C>G	ENST00000273980.5	-	16	1843	c.1396G>C	c.(1396-1398)Gac>Cac	p.D466H	TBCK_ENST00000361687.4_Missense_Mutation_p.D403H|TBCK_ENST00000394706.3_Missense_Mutation_p.D427H|TBCK_ENST00000394708.2_Missense_Mutation_p.D466H|TBCK_ENST00000432496.2_Missense_Mutation_p.D466H					TBC1 domain containing kinase									p.D466H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GGAGGAATGTCAACTCTTGCT	0.348																																						uc010ilv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(1396-1398)GAC>CAC		TBC domain-containing protein kinase-like							85.0	75.0	78.0					4																	107156479		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107156479C>G		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1396G>C	4.37:g.107156479C>G	ENSP00000273980:p.Asp466His					TBCK_uc003hyb.2_Missense_Mutation_p.D209H|TBCK_uc003hye.2_Missense_Mutation_p.D427H|TBCK_uc003hyc.2_Missense_Mutation_p.D403H|TBCK_uc003hyd.2_Missense_Mutation_p.D294H|TBCK_uc003hyf.2_Missense_Mutation_p.D466H	p.D466H	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			15	1761	-			466			Rab-GAP TBC.			Missense_Mutation	SNP	ENST00000273980.5	37	c.1396G>C	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875700	0.91664	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	5.9	5.9	0.94986	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.90369	3.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.09357	-1.0678	10	0.87932	D	0	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	466;427;403	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	H	466;466;403;427;466	ENSP00000273980:D466H;ENSP00000405847:D466H;ENSP00000355338:D403H;ENSP00000378196:D427H;ENSP00000378198:D466H	ENSP00000273980:D466H	D	-	1	0	TBCK	107375928	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.294000	0.78760	2.788000	0.95919	0.650000	0.86243	GAC		PASS	0.348	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		14	47	14	47	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114199653	114199653	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:114199653A>G	ENST00000357077.4	+	17	1873	c.1820A>G	c.(1819-1821)gAc>gGc	p.D607G	ANK2_ENST00000264366.6_Missense_Mutation_p.D607G|ANK2_ENST00000394537.3_Missense_Mutation_p.D607G|ANK2_ENST00000506722.1_Missense_Mutation_p.D586G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	607					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D607G(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCTCATTATGACAACCAGAAG	0.493											OREG0016024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(1819-1821)GAC>GGC		ankyrin 2 isoform 1							111.0	96.0	101.0					4																	114199653		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114199653A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1820A>G	4.37:g.114199653A>G	ENSP00000349588:p.Asp607Gly		OREG0016024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1456	ANK2_uc003ibd.3_Missense_Mutation_p.D586G|ANK2_uc003ibf.3_Missense_Mutation_p.D607G|ANK2_uc003ibc.2_Missense_Mutation_p.D583G|ANK2_uc011cgb.1_Missense_Mutation_p.D622G	p.D607G	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	17	1920	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	607			ANK 18.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1820A>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427353	0.62733	.	.	ENSG00000145362	ENST00000503271;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.03	5.03	0.67393	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000026	T	0.44393	0.1291	N	0.01228	-0.945	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.841;0.999;1.0;0.979	D;B;D;D;D	0.97110	1.0;0.398;0.998;0.999;0.989	T	0.60156	-0.7318	10	0.28530	T	0.3	.	15.0629	0.71970	1.0:0.0:0.0:0.0	.	607;607;607;586;586	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	G	586;586;622;607;607;607;586	ENSP00000423799:D586G;ENSP00000421067:D586G;ENSP00000424722:D622G;ENSP00000378044:D607G;ENSP00000349588:D607G;ENSP00000264366:D607G	ENSP00000264366:D607G	D	+	2	0	ANK2	114419102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.118000	0.94355	2.000000	0.58554	0.528000	0.53228	GAC		PASS	0.493	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	77	22	77	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114239775	114239775	+	Splice_Site	SNP	G	G	T	rs367583875		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:114239775G>T	ENST00000357077.4	+	26	2952	c.2899G>T	c.(2899-2901)Ggt>Tgt	p.G967C	ANK2_ENST00000264366.6_Splice_Site_p.G967C|ANK2_ENST00000509550.1_Splice_Site_p.G176C|ANK2_ENST00000394537.3_Splice_Site_p.G967C|ANK2_ENST00000506722.1_Splice_Site_p.G946C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	967	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G967C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATTCATTCAGGGTGAGTAAA	0.428																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2899-2901)GGT>TGT		ankyrin 2 isoform 1							102.0	96.0	98.0					4																	114239775		2202	4300	6502	SO:0001630	splice_region_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114239775G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2900+1G>T	4.37:g.114239775G>T						ANK2_uc003ibd.3_Missense_Mutation_p.G946C|ANK2_uc003ibf.3_Missense_Mutation_p.G967C|ANK2_uc011cgc.1_Missense_Mutation_p.G176C|ANK2_uc003ibg.3_Translation_Start_Site|ANK2_uc003ibc.2_Missense_Mutation_p.G943C|ANK2_uc011cgb.1_Missense_Mutation_p.G982C	p.G967C	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	26	2999	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	967			ZU5.|Interaction with SPTBN1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2899G>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.390164|4.390164	0.82902|0.82902	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|.	0.69806|.	0.82;0.82;-0.43;0.82;0.82;0.82;0.82;0.82|.	5.14|5.14	5.14|5.14	0.70334|0.70334	ZU5 (3);|.	0.000000|.	0.53938|.	D|.	0.000051|.	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.80764|.	0.994;0.98;0.978;0.99;0.986;0.991|.	T|T	0.57499|0.57499	-0.7801|-0.7801	10|5	0.87932|.	D|.	0|.	.|.	13.3067|13.3067	0.60357|0.60357	0.0767:0.0:0.9233:0.0|0.0767:0.0:0.9233:0.0	.|.	176;967;967;967;946;946|.	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;ANK2_HUMAN;.;.;.;.|.	C|M	946;913;946;46;982;967;967;967;946;176|12	ENSP00000423799:G946C;ENSP00000421011:G913C;ENSP00000421067:G946C;ENSP00000424722:G982C;ENSP00000378044:G967C;ENSP00000349588:G967C;ENSP00000264366:G967C;ENSP00000426944:G176C|.	ENSP00000264366:G967C|.	G|R	+|+	1|2	0|0	ANK2|ANK2	114459224|114459224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.605000|7.605000	0.82844|0.82844	2.562000|2.562000	0.86427|0.86427	0.655000|0.655000	0.94253|0.94253	GGT;GGT;GGC;GGT;GGT;GGT;GGT;GGT;GGC;GGT|AGG		PASS	0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	Missense_Mutation	16	28	16	28	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146479017	146479017	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:146479017C>T	ENST00000515385.1	+	7	1871	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	SMAD1_ENST00000394092.2_Silent_p.P443P|SMAD1_ENST00000302085.4_Silent_p.P443P			Q15797	SMAD1_HUMAN	SMAD family member 1	443	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.P443P(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TGCACGGCCCCCTCCAGTGGC	0.488											OREG0016348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(182;1287 2092 10326 35158 50562)	uc003ikc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1327-1329)CCC>CCT		Sma- and Mad-related protein 1							150.0	153.0	152.0					4																	146479017		2203	4300	6503	SO:0001819	synonymous_variant	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146479017C>T	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1329C>T	4.37:g.146479017C>T			OREG0016348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1702	SMAD1_uc003ikd.2_Silent_p.P443P|SMAD1_uc010iov.2_Silent_p.P443P|SMAD1_uc011cic.1_Silent_p.P404P	p.P443P	NM_005900	NP_005891	Q15797	SMAD1_HUMAN			7	1745	+	all_hematologic(180;0.151)		443			MH2.		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Silent	SNP	ENST00000515385.1	37	c.1329C>T	CCDS3765.1																																																																																				PASS	0.488	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		80	167	80	167	---	---	---	---
DCLK2	166614	broad.mit.edu	37	4	151153969	151153969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:151153969G>T	ENST00000296550.7	+	10	2309	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*	DCLK2_ENST00000302176.8_Nonsense_Mutation_p.E536*|DCLK2_ENST00000506325.1_Nonsense_Mutation_p.E518*	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E536*(1)|p.E519*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CATCAAACCAGAGAATCTCTT	0.443																																					GBM(195;186 2215 13375 16801 37459)	uc003ilm.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(1555-1557)GAG>TAG		doublecortin-like kinase 2 isoform a							237.0	206.0	217.0					4																	151153969		2203	4300	6503	SO:0001587	stop_gained	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151153969G>T	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1555G>T	4.37:g.151153969G>T	ENSP00000296550:p.Glu519*					DCLK2_uc003iln.3_Nonsense_Mutation_p.E518*|DCLK2_uc003ilo.3_Nonsense_Mutation_p.E536*|DCLK2_uc003ilp.3_RNA	p.E519*	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			10	1655	+	all_hematologic(180;0.151)		519			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Nonsense_Mutation	SNP	ENST00000296550.7	37	c.1555G>T	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	39	7.303086	0.98200	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	X	519;518;536	.	ENSP00000296550:E519X	E	+	1	0	DCLK2	151373419	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	9.770000	0.98971	2.865000	0.98341	0.655000	0.94253	GAG		PASS	0.443	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		91	228	91	228	---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186379985	186379985	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr4:186379985C>A	ENST00000307588.3	-	6	1831	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*	CCDC110_ENST00000393540.3_Nonsense_Mutation_p.E549*|CCDC110_ENST00000510617.1_Nonsense_Mutation_p.E586*|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	586						nucleus (GO:0005634)		p.E586*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTAACATTTCTTTTTCATCT	0.308																																						uc003ixu.3																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	central_nervous_system(1)	1						c.(1756-1758)GAA>TAA		coiled-coil domain containing 110 isoform a							69.0	72.0	71.0					4																	186379985		2201	4293	6494	SO:0001587	stop_gained	256309					nucleus		g.chr4:186379985C>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1756G>T	4.37:g.186379985C>A	ENSP00000306776:p.Glu586*					CCDC110_uc003ixv.3_Nonsense_Mutation_p.E549*|CCDC110_uc011ckt.1_Nonsense_Mutation_p.E586*	p.E586*	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1832	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	586			Potential.		Q86YI9|Q8N7W0	Nonsense_Mutation	SNP	ENST00000307588.3	37	c.1756G>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686805	0.88639	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	.	.	.	5.55	2.63	0.31362	.	0.539405	0.16902	N	0.194863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-1.7694	5.6758	0.17747	0.0:0.3474:0.441:0.2116	.	.	.	.	X	549;586;586	.	ENSP00000306776:E586X	E	-	1	0	CCDC110	186616979	0.216000	0.23585	0.023000	0.16930	0.692000	0.40212	0.280000	0.18790	0.798000	0.33994	-0.211000	0.12701	GAA		PASS	0.308	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		47	54	47	54	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	143301	143301	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:143301C>T	ENST00000283426.6	+	2	599	c.549C>T	c.(547-549)ccC>ccT	p.P183P	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	183							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P183P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAGACTTCCCCAGCCAGGTGC	0.672																																						uc003jak.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(547-549)CCC>CCT		pleckstrin homology domain containing, family G							44.0	52.0	49.0					5																	143301		2202	4297	6499	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:143301C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.549C>T	5.37:g.143301C>T							p.P183P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	2	599	+			183						Silent	SNP	ENST00000283426.6	37	c.549C>T	CCDS34124.1																																																																																				PASS	0.672	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		50	194	50	194	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13885213	13885213	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:13885213G>A	ENST00000265104.4	-	19	2972	c.2868C>T	c.(2866-2868)cgC>cgT	p.R956R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	956	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R956R(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGTAACTCGCGGGCTTCTT	0.443									Kartagener syndrome																													uc003jfd.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2866-2868)CGC>CGT		dynein, axonemal, heavy chain 5							126.0	120.0	122.0					5																	13885213		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13885213G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2868C>T	5.37:g.13885213G>A							p.R956R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			19	2910	-	Lung NSC(4;0.00476)		956			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.2868C>T	CCDS3882.1																																																																																				PASS	0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		31	136	31	136	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32074332	32074332	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:32074332C>A	ENST00000438447.1	+	18	3508	c.3120C>A	c.(3118-3120)gaC>gaA	p.D1040E	PDZD2_ENST00000282493.3_Missense_Mutation_p.D1040E			O15018	PDZD2_HUMAN	PDZ domain containing 2	1040					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.D1040E(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTCAGTGGACTTAGAGGAGA	0.592																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(3118-3120)GAC>GAA		PDZ domain containing 2							84.0	85.0	85.0					5																	32074332		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074332C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3120C>A	5.37:g.32074332C>A	ENSP00000402033:p.Asp1040Glu					PDZD2_uc003jhm.2_Missense_Mutation_p.D1040E|PDZD2_uc011cnx.1_Missense_Mutation_p.D866E	p.D1040E	NM_178140	NP_835260	O15018	PDZD2_HUMAN			18	3508	+			1040					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3120C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295032	0.23564	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05199	3.48;3.48	5.67	1.83	0.25207	.	0.524219	0.17521	N	0.171252	T	0.04272	0.0118	L	0.39898	1.24	0.09310	N	1	B;B	0.26672	0.156;0.024	B;B	0.19666	0.026;0.005	T	0.44559	-0.9320	10	0.09843	T	0.71	.	4.9797	0.14158	0.0:0.4285:0.2796:0.2919	.	866;1040	B4E3P2;O15018	.;PDZD2_HUMAN	E	1040;842;1040	ENSP00000402033:D1040E;ENSP00000282493:D1040E	ENSP00000282493:D1040E	D	+	3	2	PDZD2	32110089	0.314000	0.24563	0.001000	0.08648	0.043000	0.13939	0.565000	0.23578	0.349000	0.23975	0.563000	0.77884	GAC		PASS	0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			29	150	29	150	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41058234	41058234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:41058234G>T	ENST00000399564.4	-	7	1137	c.687C>A	c.(685-687)taC>taA	p.Y229*	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	229								p.Y229*(1)|p.Y229Y(1)									GGCCCAGGGCGTATCCACGGA	0.517																																						uc003jmj.3																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(6)|central_nervous_system(2)	8						c.(685-687)TAC>TAA		HEAT repeat family member 7B2							77.0	75.0	75.0					5																	41058234		1920	4124	6044	SO:0001587	stop_gained	133558						binding	g.chr5:41058234G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.687C>A	5.37:g.41058234G>T	ENSP00000382476:p.Tyr229*					HEATR7B2_uc003jmi.3_5'UTR	p.Y229*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			7	1177	-			229			HEAT 2.		Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.687C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354444	0.95830	.	.	ENSG00000171495	ENST00000399564	.	.	.	5.27	-8.38	0.00973	.	0.285191	0.25349	N	0.031305	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3899	0.66970	0.3572:0.0:0.6428:0.0	.	.	.	.	X	229	.	ENSP00000382476:Y229X	Y	-	3	2	HEATR7B2	41093991	0.004000	0.15560	0.239000	0.24122	0.032000	0.12392	-1.723000	0.01866	-1.592000	0.01619	-1.223000	0.01593	TAC		PASS	0.517	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		54	56	54	56	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79054627	79054627	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:79054627C>A	ENST00000446378.2	+	7	11193	c.11162C>A	c.(11161-11163)aCa>aAa	p.T3721K	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3721	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.T3721K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCCACCAGCACAACAATTGCA	0.373																																						uc003kgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(11161-11163)ACA>AAA		cardiomyopathy associated 5							103.0	97.0	99.0					5																	79054627		1897	4123	6020	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79054627C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11162C>A	5.37:g.79054627C>A	ENSP00000394770:p.Thr3721Lys						p.T3721K	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	7	11234	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3721			Fibronectin type-III 1.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.11162C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857388	0.71834	.	.	ENSG00000164309	ENST00000446378	T	0.61274	0.12	5.59	4.7	0.59300	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.147993	0.31624	N	0.007337	T	0.72510	0.3469	L	0.59436	1.845	0.58432	D	0.999995	D	0.89917	1.0	D	0.74674	0.984	T	0.76058	-0.3098	10	0.87932	D	0	.	16.0128	0.80413	0.0:0.865:0.135:0.0	.	3721	Q8N3K9	CMYA5_HUMAN	K	3721	ENSP00000394770:T3721K	ENSP00000394770:T3721K	T	+	2	0	CMYA5	79090383	1.000000	0.71417	0.929000	0.37066	0.500000	0.33767	4.416000	0.59815	1.314000	0.45095	0.561000	0.74099	ACA		PASS	0.373	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		29	80	29	80	---	---	---	---
ANKRD34B	340120	broad.mit.edu	37	5	79854552	79854552	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:79854552C>A	ENST00000338682.3	-	5	1959	c.1287G>T	c.(1285-1287)agG>agT	p.R429S		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	429				R -> G (in Ref. 1; CAH18341). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R429S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTGAACCTCGCCTTTCTAAAA	0.468																																						uc010jam.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1285-1287)AGG>AGT		ankyrin repeat domain 34B							109.0	115.0	113.0					5																	79854552		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79854552C>A		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1287G>T	5.37:g.79854552C>A	ENSP00000339802:p.Arg429Ser					ANKRD34B_uc003kgw.2_Silent_p.G429G|ANKRD34B_uc010jan.2_Missense_Mutation_p.R429S	p.R429S	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1637	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	429	R -> G (in Ref. 1; CAH18341).				B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.1287G>T	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255435	0.39896	.	.	ENSG00000189127	ENST00000338682	T	0.28895	1.59	6.04	4.09	0.47781	.	0.000000	0.64402	D	0.000001	T	0.47930	0.1472	M	0.78456	2.415	0.48236	D	0.99961	D	0.69078	0.997	P	0.61874	0.895	T	0.50923	-0.8770	10	0.87932	D	0	-21.9539	5.7476	0.18128	0.0:0.6586:0.0:0.3414	.	429	A5PLL1	AN34B_HUMAN	S	429	ENSP00000339802:R429S	ENSP00000339802:R429S	R	-	3	2	ANKRD34B	79890308	0.824000	0.29247	1.000000	0.80357	0.166000	0.22503	0.436000	0.21526	1.470000	0.48102	0.563000	0.77884	AGG		PASS	0.468	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		72	136	72	136	---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101572647	101572647	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:101572647G>T	ENST00000310954.6	-	13	2376	c.2090C>A	c.(2089-2091)aCa>aAa	p.T697K		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.T697K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGACACATCTGTGGCTGATGG	0.328																																						uc003knm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(2089-2091)ACA>AAA		solute carrier organic anion transporter family,							118.0	112.0	114.0					5																	101572647		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101572647G>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.2090C>A	5.37:g.101572647G>T	ENSP00000309741:p.Thr697Lys						p.T697K	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	13	2377	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	697			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.2090C>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	5.483	0.274107	0.10403	.	.	ENSG00000173930	ENST00000310954	T	0.38240	1.15	5.08	3.27	0.37495	.	0.452057	0.20812	N	0.085240	T	0.20170	0.0485	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32295	-0.9912	10	0.05436	T	0.98	.	6.3625	0.21437	0.0929:0.0:0.7281:0.1789	.	697	Q6ZQN7	SO4C1_HUMAN	K	697	ENSP00000309741:T697K	ENSP00000309741:T697K	T	-	2	0	SLCO4C1	101600546	0.000000	0.05858	0.074000	0.20217	0.026000	0.11368	0.290000	0.18975	0.699000	0.31761	0.655000	0.94253	ACA		PASS	0.328	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		45	100	45	100	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128301899	128301899	+	Silent	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:128301899G>C	ENST00000262462.4	+	1	1079	c.69G>C	c.(67-69)ctG>ctC	p.L23L	SLC27A6_ENST00000395266.1_Silent_p.L23L|SLC27A6_ENST00000506176.1_Silent_p.L23L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	23					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.L23L(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGAAACTCCTGTTCCCTTACT	0.502																																						uc003kuy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(67-69)CTG>CTC		solute carrier family 27 (fatty acid							93.0	91.0	92.0					5																	128301899		2203	4300	6503	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128301899G>C	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.69G>C	5.37:g.128301899G>C						SLC27A6_uc003kuz.2_Silent_p.L23L	p.L23L	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	2	465	+		all_cancers(142;0.0483)|Prostate(80;0.055)	23			Helical; (Potential).		Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.69G>C	CCDS4145.1																																																																																				PASS	0.502	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		41	103	41	103	---	---	---	---
C5orf15	56951	broad.mit.edu	37	5	133295551	133295551	+	Silent	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:133295551T>A	ENST00000231512.3	-	2	502	c.300A>T	c.(298-300)gcA>gcT	p.A100A	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	100						integral component of membrane (GO:0016021)		p.A100A(1)		endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			GGACCACAGATGCTCCTCCAC	0.468																																						uc003kyo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(298-300)GCA>GCT		keratinocytes associated transmembrane protein 2							72.0	62.0	65.0					5																	133295551		2203	4300	6503	SO:0001819	synonymous_variant	56951					integral to membrane		g.chr5:133295551T>A	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.300A>T	5.37:g.133295551T>A							p.A100A	NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		2	431	-			100			Extracellular (Potential).		B2RD10|D3DQ92|Q9NRG2	Silent	SNP	ENST00000231512.3	37	c.300A>T	CCDS4167.1																																																																																				PASS	0.468	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1	NM_020199		25	35	25	35	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222998	140222998	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:140222998G>C	ENST00000531613.1	+	1	2092	c.2092G>C	c.(2092-2094)Gtg>Ctg	p.V698L	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V698L|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	698					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V698L(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGTCAACGTGTACCTGAT	0.642																																						uc003lhs.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2092-2094)GTG>CTG		protocadherin alpha 8 isoform 1 precursor							75.0	71.0	72.0					5																	140222998		2197	4265	6462	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222998G>C	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2092G>C	5.37:g.140222998G>C	ENSP00000434655:p.Val698Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.V698L	p.V698L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2092	+			698			Helical; (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.2092G>C	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	0.749	-0.773464	0.02951	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.44482	1.02;0.92	3.06	2.16	0.27623	.	0.000000	0.33199	U	0.005172	T	0.26521	0.0648	L	0.49455	1.56	0.09310	N	0.999998	B;B	0.25351	0.124;0.079	B;B	0.25884	0.029;0.064	T	0.19451	-1.0305	10	0.06099	T	0.92	.	4.1194	0.10098	0.2055:0.0:0.5976:0.1969	.	698;698	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	698	ENSP00000434655:V698L;ENSP00000367363:V698L	ENSP00000367363:V698L	V	+	1	0	PCDHA8	140203182	0.000000	0.05858	0.995000	0.50966	0.695000	0.40330	-0.119000	0.10676	1.692000	0.51112	0.460000	0.39030	GTG		PASS	0.642	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		30	69	30	69	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140573390	140573390	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:140573390C>T	ENST00000239446.4	+	1	1449	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	422	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T422I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCACTATCACCGTCACTGAC	0.517																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1264-1266)ACC>ATC		protocadherin beta 10 precursor							108.0	103.0	105.0					5																	140573390		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573390C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1265C>T	5.37:g.140573390C>T	ENSP00000239446:p.Thr422Ile						p.T422I	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1439	+			422			Cadherin 4.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1265C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401619	0.11696	.	.	ENSG00000120324	ENST00000239446	T	0.03358	3.96	3.22	2.34	0.29019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08714	0.0216	M	0.80508	2.5	0.27542	N	0.950775	B	0.30664	0.289	B	0.40477	0.33	T	0.17107	-1.0380	9	0.59425	D	0.04	.	4.658	0.12628	0.0:0.6081:0.1915:0.2004	.	422	Q9UN67	PCDBA_HUMAN	I	422	ENSP00000239446:T422I	ENSP00000239446:T422I	T	+	2	0	PCDHB10	140553574	0.000000	0.05858	0.269000	0.24586	0.018000	0.09664	-0.746000	0.04829	0.709000	0.31976	-0.241000	0.12123	ACC		PASS	0.517	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		46	95	46	95	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140736415	140736415	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:140736415C>A	ENST00000571252.1	+	1	1648	c.1648C>A	c.(1648-1650)Ctc>Atc	p.L550I	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACTGAGCCTCTTTGTGCT	0.562																																						uc003ljq.1																			0					0						c.(1648-1650)CTC>ATC		protocadherin gamma subfamily A, 4 isoform 1							188.0	196.0	193.0					5																	140736415		2194	4299	6493	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736415C>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1648C>A	5.37:g.140736415C>A	ENSP00000458570:p.Leu550Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.L550I	p.L550I	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1648	+			550			Extracellular (Potential).|Cadherin 5.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1648C>A	CCDS58979.1																																																																																				PASS	0.562	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		119	268	119	268	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140797688	140797688	+	Missense_Mutation	SNP	G	G	A	rs201244691		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:140797688G>A	ENST00000398594.2	+	1	262	c.262G>A	c.(262-264)Gac>Aac	p.D88N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D88N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGTGAAGGACCGAATAGA	0.493																																						uc003lkn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(262-264)GAC>AAC		protocadherin gamma subfamily B, 7 isoform 1		G	,,,,,,,,,,,,,,,ASN/ASP,,ASN/ASP	2,3896		0,2,1947	160.0	169.0	166.0		,,,,,,,,,,,,,,,262,,262	5.9	1.0	5		166	1,8287		0,1,4143	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032101.2	,,,,,,,,,,,,,,,23,,23	0,3,6090	AA,AG,GG		0.0121,0.0513,0.0246	,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,88/930,,88/809	140797688	3,12183	1949	4144	6093	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140797688G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.262G>A	5.37:g.140797688G>A	ENSP00000381594:p.Asp88Asn					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_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.D88N|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.D88N	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	407	+			88			Extracellular (Potential).|Cadherin 1.		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.262G>A	CCDS47293.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	17.73	3.462029	0.63513	5.13E-4	1.21E-4	ENSG00000254122	ENST00000398594	T	0.27720	1.65	5.92	5.92	0.95590	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	1.298180	0.06039	U	0.654489	T	0.47229	0.1434	M	0.74258	2.255	0.33525	D	0.592882	B;B	0.20459	0.045;0.036	B;B	0.26693	0.072;0.043	T	0.51076	-0.8751	10	0.51188	T	0.08	.	19.9447	0.97177	0.0:0.0:1.0:0.0	.	88;88	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	N	88	ENSP00000381594:D88N	ENSP00000381594:D88N	D	+	1	0	PCDHGB7	140777872	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.156000	0.58138	2.822000	0.97130	0.650000	0.86243	GAC		PASS	0.493	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		40	110	40	110	---	---	---	---
ABLIM3	22885	broad.mit.edu	37	5	148627364	148627364	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:148627364G>T	ENST00000506113.1	+	17	2053	c.1571G>T	c.(1570-1572)cGg>cTg	p.R524L	ABLIM3_ENST00000356541.3_Missense_Mutation_p.R413L|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R524L|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R10L|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R429L|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R491L|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R413L|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	524					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.R524L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAATTGGCCGGCTGATTCTG	0.572																																						uc003lpy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1570-1572)CGG>CTG		actin binding LIM protein family, member 3							44.0	47.0	46.0					5																	148627364		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148627364G>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1571G>T	5.37:g.148627364G>T	ENSP00000425394:p.Arg524Leu					ABLIM3_uc003lpz.1_Missense_Mutation_p.R524L|ABLIM3_uc003lqa.1_Missense_Mutation_p.R421L|ABLIM3_uc003lqb.2_Missense_Mutation_p.R413L|ABLIM3_uc003lqc.1_Missense_Mutation_p.R491L|ABLIM3_uc003lqd.1_Missense_Mutation_p.R429L|ABLIM3_uc003lqf.2_Missense_Mutation_p.R413L|ABLIM3_uc003lqe.1_Missense_Mutation_p.R413L	p.R524L	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		18	1822	+			524					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1571G>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622821	0.66787	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.49126	1.545	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.998;0.998;0.999	D;D;D;D	0.87578	0.998;0.991;0.99;0.962	T	0.55673	-0.8104	10	0.56958	D	0.05	.	19.6415	0.95760	0.0:0.0:1.0:0.0	.	10;429;413;524	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	L	429;413;524;524;413;491;10;9	ENSP00000315841:R429L;ENSP00000348938:R413L;ENSP00000310309:R524L;ENSP00000425394:R524L;ENSP00000421183:R413L;ENSP00000420855:R491L;ENSP00000430150:R10L	ENSP00000310309:R524L	R	+	2	0	ABLIM3	148607557	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.758000	0.91663	2.651000	0.90000	0.561000	0.74099	CGG		PASS	0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		21	73	21	73	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153190660	153190660	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:153190660G>T	ENST00000285900.5	+	16	2939	c.2596G>T	c.(2596-2598)Gga>Tga	p.G866*	GRIA1_ENST00000448073.4_Nonsense_Mutation_p.G876*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.G876*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.G866*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.G786*|GRIA1_ENST00000521843.2_Nonsense_Mutation_p.G797*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	866				AGA -> TAP (in Ref. 1; AAA58613). {ECO:0000305}.	ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.G866*(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAGCGGGGCAGGAGCCAGCAG	0.572																																						uc003lva.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2596-2598)GGA>TGA		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						44.0	49.0	47.0					5																	153190660		2203	4300	6503	SO:0001587	stop_gained	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190660G>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2596G>T	5.37:g.153190660G>T	ENSP00000285900:p.Gly866*					GRIA1_uc003luy.3_Nonsense_Mutation_p.G866*|GRIA1_uc003luz.3_Nonsense_Mutation_p.G771*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.G786*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.G797*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.G876*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.G876*	p.G866*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2961	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	866	AGA -> TAP (in Ref. 1; AAA58613).		Cytoplasmic (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Nonsense_Mutation	SNP	ENST00000285900.5	37	c.2596G>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	39	7.868431	0.98534	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	.	.	.	5.16	5.16	0.70880	.	0.138197	0.33235	N	0.005126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.6489	0.88157	0.0:0.0:1.0:0.0	.	.	.	.	X	866;866;786;866;799;797;876;876	.	ENSP00000285900:G866X	G	+	1	0	GRIA1	153170853	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.248000	0.58760	2.399000	0.81585	0.655000	0.94253	GGA		PASS	0.572	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			33	24	33	24	---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161524751	161524751	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:161524751C>A	ENST00000361925.4	+	4	655	c.435C>A	c.(433-435)atC>atA	p.I145I	GABRG2_ENST00000393933.4_Silent_p.I50I|GABRG2_ENST00000356592.3_Silent_p.I145I|GABRG2_ENST00000414552.2_Silent_p.I145I			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	145					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.I145I(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	TGGGGAAAATCTGGATTCCAG	0.423																																						uc003lyz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(433-435)ATC>ATA		gamma-aminobutyric acid A receptor, gamma 2							97.0	98.0	97.0					5																	161524751		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524751C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.435C>A	5.37:g.161524751C>A						GABRG2_uc010jjc.2_Silent_p.I145I|GABRG2_uc003lyy.3_Silent_p.I145I|GABRG2_uc011dej.1_Silent_p.I50I	p.I145I	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	793	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	145			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.435C>A	CCDS4358.1																																																																																				PASS	0.423	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			7	159	7	159	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167655043	167655043	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:167655043C>A	ENST00000518659.1	+	25	5467	c.5428C>A	c.(5428-5430)Ctg>Atg	p.L1810M	TENM2_ENST00000545108.1_Missense_Mutation_p.L1809M|TENM2_ENST00000403607.2_Missense_Mutation_p.L1634M|TENM2_ENST00000519204.1_Missense_Mutation_p.L1689M|TENM2_ENST00000520394.1_Missense_Mutation_p.L1571M|CTB-178M22.2_ENST00000519795.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1810					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L1689M(1)|p.L1643M(1)|p.L1810M(1)									CAACATCTCCCTGCCTATGGA	0.532																																						uc010jjd.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(5401-5403)CTG>ATG		odz, odd Oz/ten-m homolog 2							51.0	53.0	52.0					5																	167655043		2052	4194	6246	SO:0001583	missense	57451							g.chr5:167655043C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5428C>A	5.37:g.167655043C>A	ENSP00000429430:p.Leu1810Met					ODZ2_uc003lzr.3_Missense_Mutation_p.L1571M|ODZ2_uc003lzt.3_Missense_Mutation_p.L1174M|ODZ2_uc010jje.2_Missense_Mutation_p.L1065M	p.L1801M	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	25	5401	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5401C>A		.	.	.	.	.	.	.	.	.	.	C	21.8	4.195854	0.78902	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91407	-2.36;-2.35;-2.47;-2.79;-2.84	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	M	0.82517	2.595	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.994	D	0.95515	0.8589	10	0.59425	D	0.04	.	14.6226	0.68597	0.0:0.9302:0.0:0.0698	.	1809;1810;1571	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	1810;1809;1689;1571;1634	ENSP00000429430:L1810M;ENSP00000438635:L1809M;ENSP00000428964:L1689M;ENSP00000427874:L1571M;ENSP00000384905:L1634M	ENSP00000384905:L1634M	L	+	1	2	ODZ2	167587621	1.000000	0.71417	0.973000	0.42090	0.978000	0.69477	4.957000	0.63652	1.401000	0.46761	0.561000	0.74099	CTG		PASS	0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	42	3	42	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169494609	169494609	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:169494609C>A	ENST00000256935.8	+	45	4643	c.4563C>A	c.(4561-4563)acC>acA	p.T1521T	DOCK2_ENST00000520908.1_Silent_p.T1013T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.T582T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1521	DHR-2.				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.T1521T(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)			GTGATGAGACCCTCCCCATCA	0.502																																						uc003maf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(4561-4563)ACC>ACA		dedicator of cytokinesis 2							190.0	173.0	179.0					5																	169494609		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.chr5:169494609C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4563C>A	5.37:g.169494609C>A						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.T1013T|DOCK2_uc003mah.2_Silent_p.T77T	p.T1521T	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		45	4643	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1521			DHR-2.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.4563C>A	CCDS4371.1																																																																																				PASS	0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		34	127	34	127	---	---	---	---
FOXI1	2299	broad.mit.edu	37	5	169533463	169533463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:169533463C>T	ENST00000306268.6	+	1	563	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	FOXI1_ENST00000449804.2_Nonsense_Mutation_p.Q168*			Q12951	FOXI1_HUMAN	forkhead box I1	168					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q168*(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCGGCTGGCAGAACTCCAT	0.617									Pendred syndrome																													uc003mai.3																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|central_nervous_system(1)	4						c.(502-504)CAG>TAG		forkhead box I1 isoform a							39.0	42.0	41.0					5																	169533463		2203	4300	6503	SO:0001587	stop_gained	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533463C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.502C>T	5.37:g.169533463C>T	ENSP00000304286:p.Gln168*					FOXI1_uc003maj.3_Nonsense_Mutation_p.Q168*	p.Q168*	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	547	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	168			Fork-head.		Q14518|Q66SR7|Q8N6L8	Nonsense_Mutation	SNP	ENST00000306268.6	37	c.502C>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	37	6.366164	0.97507	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1961	0.89822	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000304286:Q168X	Q	+	1	0	FOXI1	169466041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.646000	0.83445	2.513000	0.84729	0.650000	0.86243	CAG		PASS	0.617	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		11	43	11	43	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170610348	170610348	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr5:170610348G>A	ENST00000523189.1	+	18	2116	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	651					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.G651D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTTTTCTTGGCATCAGTGAC	0.388			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1951-1953)GGC>GAC		RAN binding protein 17							112.0	98.0	103.0					5																	170610348		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170610348G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1952G>A	5.37:g.170610348G>A	ENSP00000427975:p.Gly651Asp					RANBP17_uc003mbb.2_5'UTR|RANBP17_uc003mbd.2_Missense_Mutation_p.G14D|RANBP17_uc010jjs.2_RNA|RANBP17_uc003mbc.2_Missense_Mutation_p.G14D	p.G651D	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		18	1968	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	651					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1952G>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239055	0.79800	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.66638	-0.22	5.35	5.35	0.76521	Armadillo-type fold (1);	0.000000	0.64402	D	0.000016	T	0.80303	0.4598	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.75852	-0.3171	10	0.19147	T	0.46	-12.424	17.1996	0.86902	0.0:0.0:1.0:0.0	.	651;651	Q546R4;Q9H2T7	.;RBP17_HUMAN	D	651;81	ENSP00000427975:G651D	ENSP00000427975:G651D	G	+	2	0	RANBP17	170542953	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.331000	0.90022	2.649000	0.89929	0.561000	0.74099	GGC		PASS	0.388	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		31	76	31	76	---	---	---	---
VN1R10P	387316	broad.mit.edu	37	6	27293586	27293586	+	IGR	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:27293586A>G								POM121L2 (13637 upstream) : ZNF391 (48807 downstream)																							TGCATCAAAGAAATCCTGATA	0.333																																						uc010jqt.2																			0					0						c.(523-525)AGA>AGG		FKSG83							25.0	22.0	23.0					6																	27293586		1795	4053	5848	SO:0001628	intergenic_variant	83954					integral to membrane	pheromone receptor activity	g.chr6:27293586A>G																													6.37:g.27293586A>G						FKSG83_uc010jqs.1_3'UTR	p.R175R	NM_032030	NP_114419	Q3KNW7	Q3KNW7_HUMAN			1	1009	+			175						Silent	SNP		37	c.525A>G																																																																																				0	PASS	0.333									16	23	16	23	---	---	---	---
OR12D3	81797	broad.mit.edu	37	6	29342388	29342388	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:29342388T>C	ENST00000396806.3	-	1	680	c.677A>G	c.(676-678)aAg>aGg	p.K226R	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K226R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GGACCTGTTCTTAAACAGAAG	0.438																																						uc003nme.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(676-678)AAG>AGG		olfactory receptor, family 12, subfamily D,							74.0	77.0	76.0					6																	29342388		1511	2709	4220	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342388T>C		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.677A>G	6.37:g.29342388T>C	ENSP00000380023:p.Lys226Arg						p.K226R	NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN			1	681	-			226			Cytoplasmic (Potential).		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.677A>G	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	T	8.491	0.862133	0.17178	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00028	8.92	3.92	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.28344	0.845	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.26258	-1.0108	9	0.02654	T	1	-9.2882	5.4289	0.16442	0.2205:0.0:0.151:0.6286	.	226	Q9UGF7	O12D3_HUMAN	R	226	ENSP00000380023:K226R	ENSP00000366348:K226R	K	-	2	0	OR12D3	29450367	0.000000	0.05858	0.084000	0.20598	0.450000	0.32258	-0.232000	0.09055	0.524000	0.28502	0.172000	0.16884	AAG		PASS	0.438	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			45	111	45	111	---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34101084	34101084	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:34101084C>T	ENST00000538487.2	-	2	633	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Missense_Mutation_p.G64S	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	64					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.G64S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGGGCTTGCCCTCTGAGCCC	0.607																																						uc003oir.3																			2	Substitution - Missense(2)		lung(2)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(190-192)GGC>AGC		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						56.0	47.0	50.0					6																	34101084		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34101084C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.190G>A	6.37:g.34101084C>T	ENSP00000440556:p.Gly64Ser					GRM4_uc011dsn.1_Missense_Mutation_p.G64S|GRM4_uc010jvh.2_Missense_Mutation_p.G64S|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR	p.G64S	NM_000841	NP_000832	Q14833	GRM4_HUMAN			1	360	-			64			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.190G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238281	0.58886	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	T;T	0.71222	-0.55;-0.55	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	L	0.53561	1.675	0.80722	D	1	P;D	0.89917	0.63;1.0	P;D	0.87578	0.459;0.998	T	0.68247	-0.5459	10	0.10377	T	0.69	.	16.2289	0.82318	0.0:1.0:0.0:0.0	.	64;64	B7ZLU9;Q14833	.;GRM4_HUMAN	S	64	ENSP00000363296:G64S;ENSP00000440556:G64S	ENSP00000363296:G64S	G	-	1	0	GRM4	34209062	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.861000	0.69553	2.231000	0.72958	0.467000	0.42956	GGC		PASS	0.607	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			7	73	7	73	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34957033	34957033	+	Silent	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:34957033G>T	ENST00000360359.3	+	9	1380	c.1242G>T	c.(1240-1242)ccG>ccT	p.P414P	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	414					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.P414P(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAAAGCCACCGCCCGATGAAG	0.413																																						uc003ojx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1240-1242)CCG>CCT		ankyrin repeat and sterile alpha motif domain							163.0	160.0	161.0					6																	34957033		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34957033G>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1242G>T	6.37:g.34957033G>T						ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR	p.P414P	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			9	1384	+			414					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.1242G>T	CCDS4798.1																																																																																				PASS	0.413	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		63	215	63	215	---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39847238	39847238	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:39847238G>T	ENST00000398904.2	+	14	2012	c.1830G>T	c.(1828-1830)tgG>tgT	p.W610C	RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.W610C|DAAM2_ENST00000274867.4_Missense_Mutation_p.W610C			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	610	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.W610C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTTCAACTGGGTGAAGCTGA	0.607																																						uc003oow.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1828-1830)TGG>TGT		dishevelled associated activator of							76.0	78.0	77.0					6																	39847238		1952	4110	6062	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39847238G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1830G>T	6.37:g.39847238G>T	ENSP00000381876:p.Trp610Cys					DAAM2_uc010jxc.2_Missense_Mutation_p.W610C|DAAM2_uc003oox.2_Missense_Mutation_p.W610C	p.W610C	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			14	1986	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		610			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1830G>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.130976	0.56828	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.86956	-2.19;-2.19;-2.19	5.15	5.15	0.70609	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.95570	0.8560	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96972	0.9709	10	0.87932	D	0	.	18.2305	0.89934	0.0:0.0:1.0:0.0	.	610;610	G5EA45;Q86T65	.;DAAM2_HUMAN	C	610	ENSP00000274867:W610C;ENSP00000381876:W610C;ENSP00000437808:W610C	ENSP00000274867:W610C	W	+	3	0	DAAM2	39955216	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	9.782000	0.99034	2.383000	0.81215	0.650000	0.86243	TGG		PASS	0.607	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			24	150	24	150	---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42641542	42641542	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:42641542G>T	ENST00000372899.1	+	37	4358	c.4100G>T	c.(4099-4101)aGg>aTg	p.R1367M	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.R1367M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1367					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1367M(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GACTGTCTTAGGTCATTGACG	0.393																																						uc011dur.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(4099-4101)AGG>ATG		ubiquitin protein ligase E3 component n-recognin							138.0	121.0	127.0					6																	42641542		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42641542G>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4100G>T	6.37:g.42641542G>T	ENSP00000361990:p.Arg1367Met					UBR2_uc011dus.1_Missense_Mutation_p.R1012M|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Translation_Start_Site	p.R1367M	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		37	4100	+	Colorectal(47;0.196)		1367					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.4100G>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096658	0.56075	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.51071	0.72;0.72	5.27	4.27	0.50696	.	0.183710	0.64402	D	0.000016	T	0.19927	0.0479	N	0.22421	0.69	0.80722	D	1	P;P	0.42123	0.771;0.529	B;B	0.42995	0.404;0.195	T	0.15925	-1.0420	10	0.66056	D	0.02	-36.7285	3.9476	0.09355	0.2117:0.3322:0.4561:0.0	.	1367;1367	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	M	1367	ENSP00000361990:R1367M;ENSP00000361992:R1367M	ENSP00000361990:R1367M	R	+	2	0	UBR2	42749520	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	2.191000	0.42640	2.459000	0.83118	0.561000	0.74099	AGG		PASS	0.393	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		23	116	23	116	---	---	---	---
BCKDHB	594	broad.mit.edu	37	6	80837262	80837262	+	Splice_Site	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:80837262A>T	ENST00000320393.6	+	2	243		c.e2-1		BCKDHB_ENST00000545529.1_Splice_Site|BCKDHB_ENST00000356489.5_Splice_Site|BCKDHB_ENST00000369760.4_Splice_Site|BCKDHB_ENST00000486968.1_Splice_Site	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TGATTTTCACAGGGCAAACTC	0.343																																						uc003pjd.2																			1	Unknown(1)		lung(1)		0						c.e2-2		branched chain keto acid dehydrogenase E1 beta							118.0	119.0	118.0					6																	80837262		2203	4300	6503	SO:0001630	splice_region_variant	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80837262A>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.197-1A>T	6.37:g.80837262A>T						BCKDHB_uc003pje.2_Splice_Site_p.G66_splice	p.G66_splice	NM_000056	NP_000047	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	2	264	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)						Q5T2J3|Q9BQL0	Splice_Site	SNP	ENST00000320393.6	37	c.197_splice	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.558703	0.65538	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0698	0.53609	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCKDHB	80893981	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	6.996000	0.76263	2.102000	0.63906	0.455000	0.32223	.		PASS	0.343	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056	Intron	34	224	34	224	---	---	---	---
FHL5	9457	broad.mit.edu	37	6	97053784	97053784	+	Missense_Mutation	SNP	G	G	T	rs201297556		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:97053784G>T	ENST00000326771.2	+	5	721	c.341G>T	c.(340-342)cGc>cTc	p.R114L	FHL5_ENST00000541107.1_Missense_Mutation_p.R114L	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	114	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R114L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ACAGGTTCCCGCAAAATGGAA	0.353																																						uc003pos.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(340-342)CGC>CTC		activator of cAMP-responsive element modulator							68.0	66.0	67.0					6																	97053784		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97053784G>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.341G>T	6.37:g.97053784G>T	ENSP00000326022:p.Arg114Leu					FHL5_uc003pot.1_Missense_Mutation_p.R114L	p.R114L	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	5	746	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	114			LIM zinc-binding 2.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.341G>T	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426037	0.96131	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.86230	-2.09;-2.09;-2.09	6.06	6.06	0.98353	Zinc finger, LIM-type (5);	0.000000	0.44688	D	0.000428	D	0.94571	0.8251	M	0.90542	3.125	0.80722	D	1	D	0.64830	0.994	D	0.68192	0.956	D	0.94120	0.7378	10	0.62326	D	0.03	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	114	Q5TD97	FHL5_HUMAN	L	114	ENSP00000442357:R114L;ENSP00000326022:R114L;ENSP00000396390:R114L	ENSP00000326022:R114L	R	+	2	0	FHL5	97160505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.810000	0.99221	2.880000	0.98712	0.650000	0.86243	CGC		PASS	0.353	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		16	96	16	96	---	---	---	---
KLHL32	114792	broad.mit.edu	37	6	97561755	97561755	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:97561755C>A	ENST00000369261.4	+	7	1087	c.724C>A	c.(724-726)Cat>Aat	p.H242N	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.H173N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H206N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	242								p.H242N(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGATACTCTCCATACAGTTGC	0.537																																						uc010kcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(724-726)CAT>AAT		kelch-like 32							163.0	134.0	144.0					6																	97561755		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97561755C>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.724C>A	6.37:g.97561755C>A	ENSP00000358265:p.His242Asn					KLHL32_uc003poy.2_Missense_Mutation_p.H242N|KLHL32_uc011ead.1_Missense_Mutation_p.H206N|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.H173N|KLHL32_uc003ppa.2_Intron	p.H242N	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1196	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	242					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.724C>A	CCDS5038.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.53|13.53	2.264738|2.264738	0.40095|0.40095	.|.	.|.	ENSG00000186231|ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200|ENST00000369255;ENST00000447886	T;T;T|T	0.68025|0.34072	-0.3;-0.3;-0.3|1.38	5.09|5.09	5.09|5.09	0.68999|0.68999	BTB/Kelch-associated (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.32645|0.32645	0.0836|0.0836	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;B;P|.	0.53619|.	0.959;0.961;0.006;0.943|.	B;P;B;P|.	0.49192|.	0.37;0.484;0.006;0.602|.	T|T	0.09729|0.09729	-1.0661|-1.0661	10|7	0.72032|0.54805	D|T	0.01|0.06	.|.	18.6745|18.6745	0.91524|0.91524	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173;206;242;242|.	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08|.	.;.;KLH32_HUMAN;.|.	N|Q	242;206;173|194;164	ENSP00000358265:H242N;ENSP00000440382:H206N;ENSP00000441527:H173N|ENSP00000389310:P164Q	ENSP00000358265:H242N|ENSP00000358259:P194Q	H|P	+|+	1|2	0|0	KLHL32|KLHL32	97668476|97668476	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.896000|0.896000	0.52359|0.52359	6.892000|6.892000	0.75644|0.75644	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	CAT|CCA		PASS	0.537	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		34	208	34	208	---	---	---	---
TSPYL1	7259	broad.mit.edu	37	6	116600879	116600879	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:116600879G>T	ENST00000368608.3	-	1	187	c.115C>A	c.(115-117)Caa>Aaa	p.Q39K	DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	39					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.Q39K(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		GCCTCGCTTTGGTCGCGGAGC	0.652																																						uc003pwp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)CAA>AAA		TSPY-like 1							66.0	59.0	61.0					6																	116600879		2111	4161	6272	SO:0001583	missense	7259				nucleosome assembly	nucleolus		g.chr6:116600879G>T	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.115C>A	6.37:g.116600879G>T	ENSP00000357597:p.Gln39Lys					DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	p.Q39K	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	1	402	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	39					O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	c.115C>A	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304829	0.23736	.	.	ENSG00000189241	ENST00000368608;ENST00000545830	T	0.25250	1.81	3.59	0.815	0.18763	.	.	.	.	.	T	0.03915	0.0110	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	9	0.34782	T	0.22	-1.8776	3.9439	0.09339	0.0:0.5638:0.2048:0.2314	.	39	Q9H0U9	TSYL1_HUMAN	K	39	ENSP00000357597:Q39K	ENSP00000357597:Q39K	Q	-	1	0	TSPYL1	116707572	0.000000	0.05858	0.025000	0.17156	0.009000	0.06853	-0.369000	0.07533	0.147000	0.19030	-0.825000	0.03093	CAA		PASS	0.652	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			18	111	18	111	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117241515	117241515	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:117241515A>T	ENST00000332958.2	+	12	1241	c.1225A>T	c.(1225-1227)Atg>Ttg	p.M409L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	409					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.M409L(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGTTAATTCTATGGTGTCTGA	0.403																																						uc003pxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1225-1227)ATG>TTG		regulatory factor X, 6							218.0	197.0	204.0					6																	117241515		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117241515A>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1225A>T	6.37:g.117241515A>T	ENSP00000332208:p.Met409Leu						p.M409L	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			12	1288	+			409					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1225A>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661586	0.67700	.	.	ENSG00000185002	ENST00000332958	T	0.62498	0.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	M	0.79011	2.435	0.58432	D	0.999996	P	0.35612	0.512	B	0.37198	0.243	T	0.63269	-0.6675	10	0.49607	T	0.09	-20.7133	15.8276	0.78727	1.0:0.0:0.0:0.0	.	409	Q8HWS3	RFX6_HUMAN	L	409	ENSP00000332208:M409L	ENSP00000332208:M409L	M	+	1	0	RFX6	117348208	1.000000	0.71417	0.996000	0.52242	0.738000	0.42128	8.904000	0.92590	2.122000	0.65172	0.533000	0.62120	ATG		PASS	0.403	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		80	268	80	268	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132204869	132204869	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:132204869G>T	ENST00000360971.2	+	22	2286	c.2266G>T	c.(2266-2268)Gct>Tct	p.A756S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	756	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.A704S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATATTCTGAAGCTTTGCTTAC	0.274																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.(2266-2268)GCT>TCT		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						64.0	76.0	72.0					6																	132204869		2193	4283	6476	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132204869G>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2266G>T	6.37:g.132204869G>T	ENSP00000354238:p.Ala756Ser						p.A756S	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	22	2286	+	Breast(56;0.0505)		756			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2266G>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	15.33	2.803073	0.50315	.	.	ENSG00000197594	ENST00000360971	T	0.65364	-0.15	5.56	5.56	0.83823	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.123692	0.56097	D	0.000035	T	0.59059	0.2166	L	0.61036	1.89	0.30195	N	0.799168	P	0.35107	0.484	P	0.46917	0.531	T	0.59768	-0.7392	10	0.40728	T	0.16	-11.167	15.0784	0.72093	0.0:0.0:0.8575:0.1424	.	756	P22413	ENPP1_HUMAN	S	756	ENSP00000354238:A756S	ENSP00000354238:A756S	A	+	1	0	ENPP1	132246562	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.259000	0.58828	2.615000	0.88500	0.591000	0.81541	GCT		PASS	0.274	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			32	147	32	147	---	---	---	---
HBS1L	10767	broad.mit.edu	37	6	135363228	135363228	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:135363228G>A	ENST00000367837.5	-	3	352	c.146C>T	c.(145-147)tCc>tTc	p.S49F	HBS1L_ENST00000367820.2_Missense_Mutation_p.S49F|HBS1L_ENST00000415177.2_Missense_Mutation_p.S49F|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000445176.2_5'UTR|HBS1L_ENST00000314674.3_Missense_Mutation_p.S49F|HBS1L_ENST00000367822.5_Missense_Mutation_p.S49F|HBS1L_ENST00000367824.4_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	49					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.S49F(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AGGCTCAACGGAAGGTTTGTC	0.343																																						uc003qez.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(145-147)TCC>TTC		Hsp70 subfamily B suppressor 1-like protein							62.0	61.0	62.0					6																	135363228		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135363228G>A	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.146C>T	6.37:g.135363228G>A	ENSP00000356811:p.Ser49Phe					HBS1L_uc011ecy.1_5'UTR|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Intron|HBS1L_uc003qfa.2_Missense_Mutation_p.S49F	p.S49F	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	3	353	-	Colorectal(23;0.221)		49					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.146C>T	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709066	0.48517	.	.	ENSG00000112339	ENST00000367837;ENST00000415177;ENST00000314674;ENST00000524715;ENST00000529882;ENST00000367822;ENST00000367820	T;T	0.66638	-0.22;-0.15	4.76	4.76	0.60689	Domain of unknown function DUF1916 (2);	0.673742	0.14675	N	0.305108	T	0.71247	0.3317	M	0.68593	2.085	0.80722	D	1	D;P	0.54047	0.964;0.897	P;P	0.55455	0.731;0.776	T	0.75377	-0.3339	10	0.87932	D	0	-2.031	15.9628	0.79945	0.0:0.0:1.0:0.0	.	49;49	Q9Y450-2;Q9Y450	.;HBS1L_HUMAN	F	49;49;49;27;64;49;49	ENSP00000356811:S49F;ENSP00000389826:S49F	ENSP00000323566:S49F	S	-	2	0	HBS1L	135404921	0.691000	0.27709	0.815000	0.32552	0.920000	0.55202	2.551000	0.45820	2.167000	0.68274	0.655000	0.94253	TCC		PASS	0.343	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			21	58	21	58	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152638029	152638029	+	Silent	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:152638029T>C	ENST00000367255.5	-	87	17266	c.16665A>G	c.(16663-16665)gcA>gcG	p.A5555A	SYNE1_ENST00000423061.1_Silent_p.A5484A|SYNE1_ENST00000356820.4_Silent_p.A79A|SYNE1_ENST00000341594.5_Silent_p.A5167A|SYNE1_ENST00000265368.4_Silent_p.A5555A|SYNE1_ENST00000448038.1_Silent_p.A5484A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5555					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.A5555A(2)|p.A5484A(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)		CAGAATTCCATGCAATAGTTC	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.(16663-16665)GCA>GCG		spectrin repeat containing, nuclear envelope 1							114.0	112.0	113.0					6																	152638029		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.chr6:152638029T>C	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.16665A>G	6.37:g.152638029T>C		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.A79A|SYNE1_uc003qos.3_Silent_p.A79A|SYNE1_uc003qot.3_Silent_p.A5484A|SYNE1_uc003qou.3_Silent_p.A5555A|SYNE1_uc010kiz.2_Silent_p.A1310A	p.A5555A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	87	17267	-		Ovarian(120;0.0955)	5555			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.16665A>G	CCDS5236.2																																																																																				PASS	0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	86	28	86	---	---	---	---
MAS1	4142	broad.mit.edu	37	6	160328057	160328057	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:160328057T>A	ENST00000252660.4	+	1	84	c.70T>A	c.(70-72)Tca>Aca	p.S24T		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	24					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.S24T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CAGGAACGCCTCAGTCGGGAA	0.517																																						uc003qsz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(70-72)TCA>ACA		MAS1 oncogene							137.0	129.0	131.0					6																	160328057		2203	4300	6503	SO:0001583	missense	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328057T>A	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.70T>A	6.37:g.160328057T>A	ENSP00000252660:p.Ser24Thr						p.S24T	NM_002377	NP_002368	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	84	+		Breast(66;0.000776)|Ovarian(120;0.0303)	24			Extracellular (Potential).		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	c.70T>A	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.287217	0.40494	.	.	ENSG00000130368	ENST00000252660	T	0.19532	2.14	5.45	4.26	0.50523	.	0.000000	0.51477	D	0.000083	T	0.03915	0.0110	L	0.32530	0.975	0.37331	D	0.909999	B	0.34290	0.447	B	0.27262	0.078	T	0.10683	-1.0619	10	0.02654	T	1	.	10.5168	0.44894	0.0:0.0:0.1627:0.8373	.	24	P04201	MAS_HUMAN	T	24	ENSP00000252660:S24T	ENSP00000252660:S24T	S	+	1	0	MAS1	160248047	0.536000	0.26378	0.275000	0.24674	0.005000	0.04900	1.433000	0.34947	0.872000	0.35775	0.533000	0.62120	TCA		PASS	0.517	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		28	159	28	159	---	---	---	---
GPR31	2853	broad.mit.edu	37	6	167571221	167571221	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:167571221C>A	ENST00000366834.1	-	1	596	c.99G>T	c.(97-99)gcG>gcT	p.A33A		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	33					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A33A(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACAGCGCCACCGCGTTGCCCA	0.647																																						uc011egq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(97-99)GCG>GCT		G protein-coupled receptor 31							47.0	35.0	39.0					6																	167571221		2201	4300	6501	SO:0001819	synonymous_variant	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167571221C>A	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.99G>T	6.37:g.167571221C>A							p.A33A	NM_005299	NP_005290	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	99	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	33			Helical; Name=1; (Potential).		B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	ENST00000366834.1	37	c.99G>T	CCDS5299.1																																																																																				PASS	0.647	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		8	48	8	48	---	---	---	---
KIF25	3834	broad.mit.edu	37	6	168430290	168430290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:168430290C>T	ENST00000443060.2	+	3	416	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	KIF25_ENST00000354419.2_Nonsense_Mutation_p.Q9*|KIF25_ENST00000351261.3_Nonsense_Mutation_p.Q9*			Q9UIL4	KIF25_HUMAN	kinesin family member 25	9	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q9*(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGGTCAGCTTCAGCGTGAGAA	0.627																																						uc003qwk.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(25-27)CAG>TAG		kinesin family member 25 isoform 1							107.0	103.0	104.0					6																	168430290		2203	4300	6503	SO:0001587	stop_gained	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168430290C>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.25C>T	6.37:g.168430290C>T	ENSP00000388878:p.Gln9*					KIF25_uc010kkt.1_RNA|KIF25_uc003qwl.1_Nonsense_Mutation_p.Q9*	p.Q9*	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	2	287	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	9			Kinesin-motor.		O94775|Q5SZU9	Nonsense_Mutation	SNP	ENST00000443060.2	37	c.25C>T	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	c	13.29	2.192187	0.38707	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	.	.	.	0.775	0.775	0.18527	.	0.644761	0.12121	U	0.497685	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8475	0.13521	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	.	Q	+	1	0	KIF25	168173139	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.127000	0.10547	0.699000	0.31761	0.400000	0.26472	CAG		PASS	0.627	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			38	363	38	363	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169648707	169648707	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr6:169648707G>A	ENST00000366787.3	-	4	663	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	138	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S138S(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTCCTCCAGGGAGACCACAT	0.642																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(412-414)TCC>TCT		thrombospondin 2 precursor							85.0	69.0	75.0					6																	169648707		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648707G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.414C>T	6.37:g.169648707G>A							p.S138S	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	662	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	138			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.414C>T	CCDS34574.1																																																																																				PASS	0.642	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		26	92	26	92	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20782677	20782677	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:20782677G>T	ENST00000404938.2	+	25	3854	c.3202G>T	c.(3202-3204)Gac>Tac	p.D1068Y	ABCB5_ENST00000258738.6_Missense_Mutation_p.D623Y	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1068	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.D1068Y(1)|p.D623Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAGACTTTATGACCCCGTGCA	0.478																																						uc003suw.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1867-1869)GAC>TAC		ATP-binding cassette, sub-family B, member 5							85.0	73.0	77.0					7																	20782677		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20782677G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3202G>T	7.37:g.20782677G>T	ENSP00000384881:p.Asp1068Tyr					ABCB5_uc010kuh.2_Missense_Mutation_p.D1068Y	p.D623Y	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			16	2413	+			623			Cytoplasmic (Potential).|ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1867G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415337	0.83449	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.91686	-2.89;-2.89	5.14	5.14	0.70334	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.098856	0.41194	D	0.000924	D	0.95114	0.8417	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76071	0.987;0.982	D	0.95386	0.8477	10	0.87932	D	0	.	17.5377	0.87837	0.0:0.0:1.0:0.0	.	1068;623	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	Y	1068;623	ENSP00000384881:D1068Y;ENSP00000258738:D623Y	ENSP00000258738:D623Y	D	+	1	0	ABCB5	20749202	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.125000	0.71627	2.677000	0.91161	0.650000	0.86243	GAC		PASS	0.478	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		18	35	18	35	---	---	---	---
GRB10	2887	broad.mit.edu	37	7	50680468	50680468	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:50680468C>A	ENST00000401949.1	-	13	1633	c.1164G>T	c.(1162-1164)acG>acT	p.T388T	GRB10_ENST00000402497.1_Silent_p.T330T|GRB10_ENST00000357271.5_Silent_p.T342T|GRB10_ENST00000407526.1_Silent_p.T330T|GRB10_ENST00000406641.1_Silent_p.T330T|GRB10_ENST00000335866.3_Silent_p.T330T|GRB10_ENST00000398812.2_Silent_p.T388T|GRB10_ENST00000439599.1_Silent_p.T382T|GRB10_ENST00000403097.1_Silent_p.T382T|GRB10_ENST00000402578.1_Silent_p.T330T|GRB10_ENST00000398810.2_Silent_p.T330T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	388	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.T388T(2)|p.T382T(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCATCCAGCACGTCCTGGTTT	0.473									Russell-Silver syndrome																													uc003tpi.2																			4	Substitution - coding silent(4)		lung(4)	lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1162-1164)ACG>ACT		growth factor receptor-bound protein 10 isoform							111.0	118.0	116.0					7																	50680468		2170	4260	6430	SO:0001819	synonymous_variant	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50680468C>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1164G>T	7.37:g.50680468C>A						GRB10_uc003tph.3_Silent_p.T330T|GRB10_uc003tpj.2_Silent_p.T342T|GRB10_uc003tpk.2_Silent_p.T388T|GRB10_uc010kzb.2_Silent_p.T330T|GRB10_uc003tpl.2_Silent_p.T382T|GRB10_uc003tpm.2_Silent_p.T330T|GRB10_uc003tpn.2_Silent_p.T330T	p.T388T	NM_005311	NP_005302	Q13322	GRB10_HUMAN			10	1195	-	Glioma(55;0.08)|all_neural(89;0.245)		388			PH.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.1164G>T	CCDS43582.1																																																																																				PASS	0.473	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			28	30	28	30	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76134751	76134751	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:76134751A>G	ENST00000324432.5	+	12	2212	c.1702A>G	c.(1702-1704)Agc>Ggc	p.S568G	DTX2_ENST00000430490.2_Missense_Mutation_p.S568G|DTX2_ENST00000446600.1_Missense_Mutation_p.S477G|DTX2_ENST00000413936.2_Missense_Mutation_p.S568G|DTX2_ENST00000446820.2_Missense_Mutation_p.S521G|DTX2_ENST00000307569.8_Missense_Mutation_p.S521G	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	568					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S568G(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GGGCACGTCCAGCACCACGGG	0.622																																						uc003uff.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1702-1704)AGC>GGC		deltex 2 isoform a							110.0	73.0	86.0					7																	76134751		2201	4297	6498	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76134751A>G		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1702A>G	7.37:g.76134751A>G	ENSP00000322885:p.Ser568Gly					DTX2_uc011kgk.1_Missense_Mutation_p.S477G|DTX2_uc003ufg.3_Missense_Mutation_p.S568G|DTX2_uc003ufh.3_Missense_Mutation_p.S568G|DTX2_uc003ufj.3_Missense_Mutation_p.S521G|DTX2_uc003ufk.3_Missense_Mutation_p.S199G|DTX2_uc003ufm.3_Missense_Mutation_p.S281G|DTX2_uc003ufn.3_Missense_Mutation_p.S153G	p.S568G	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			12	2258	+			568					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.1702A>G	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	14.60	2.583620	0.46006	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.12	5.12	0.69794	.	0.176877	0.64402	D	0.000014	T	0.35307	0.0927	M	0.73319	2.225	0.53688	D	0.999973	B;B;B;B	0.34147	0.399;0.078;0.438;0.016	B;B;B;B	0.42245	0.381;0.04;0.272;0.066	T	0.09618	-1.0666	10	0.21540	T	0.41	-26.2412	14.2506	0.66016	1.0:0.0:0.0:0.0	.	477;199;521;568	F5GX89;Q6P2H0;Q86UW9-2;Q86UW9	.;.;.;DTX2_HUMAN	G	568;521;477;477;568;568;521	ENSP00000322885:S568G;ENSP00000305242:S521G;ENSP00000397648:S477G;ENSP00000390218:S568G;ENSP00000411986:S568G;ENSP00000392545:S521G	ENSP00000305242:S521G	S	+	1	0	AC005522.1	75972687	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.281000	0.78621	2.151000	0.67156	0.529000	0.55759	AGC		PASS	0.622	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			8	29	8	29	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963897	88963897	+	Missense_Mutation	SNP	C	C	A	rs201446572		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:88963897C>A	ENST00000333190.4	+	4	2210	c.1601C>A	c.(1600-1602)cCg>cAg	p.P534Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	534							metal ion binding (GO:0046872)	p.P534Q(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)			TATCAATATCCGAAACCAAAG	0.368										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1600-1602)CCG>CAG		zinc finger protein 804B							47.0	49.0	48.0					7																	88963897		2202	4298	6500	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963897C>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.1601C>A	7.37:g.88963897C>A	ENSP00000329638:p.Pro534Gln	HNSCC(36;0.09)					p.P534Q	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2139	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		534					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1601C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	8.320	0.824140	0.16678	.	.	ENSG00000182348	ENST00000333190	T	0.04551	3.6	5.49	1.76	0.24704	.	0.647451	0.13734	N	0.366476	T	0.02807	0.0084	N	0.08118	0	0.19300	N	0.99998	B	0.13594	0.008	B	0.17722	0.019	T	0.43327	-0.9398	10	0.59425	D	0.04	0.1019	6.9164	0.24361	0.0:0.1334:0.1263:0.7403	.	534	A4D1E1	Z804B_HUMAN	Q	534	ENSP00000329638:P534Q	ENSP00000329638:P534Q	P	+	2	0	ZNF804B	88801833	0.899000	0.30636	0.906000	0.35671	0.430000	0.31655	0.846000	0.27682	0.154000	0.19237	-0.238000	0.12139	CCG		PASS	0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		35	64	35	64	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99796200	99796200	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:99796200C>T	ENST00000426455.1	+	13	1754	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y	STAG3_ENST00000394018.2_Silent_p.Y391Y|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.Y449Y	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	449					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.Y449Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATTTCTGTACTGGAAGTGAG	0.552																																						uc003utx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1345-1347)TAC>TAT		stromal antigen 3							74.0	70.0	71.0					7																	99796200		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99796200C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1347C>T	7.37:g.99796200C>T						STAG3_uc010lgs.1_Silent_p.Y237Y|STAG3_uc011kjk.1_Silent_p.Y391Y|STAG3_uc003uub.1_5'Flank	p.Y449Y	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			13	1502	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		449					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.1347C>T	CCDS34703.1																																																																																				PASS	0.552	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		34	50	34	50	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915061	119915062	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:119915061_119915062CC>AA	ENST00000331113.4	+	1	1340_1341	c.375_376CC>AA	c.(373-378)atCCcg>atAAcg	p.P126T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	126					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.P126T(2)|p.I125I(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTGGCCTCATCCCGGAAATCAT	0.579																																						uc003vjj.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(373-375)ATC>ATA|c.(376-378)CCG>ACG		potassium voltage-gated channel, Shal-related																																				SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915061C>A|g.chr7:119915062C>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	Exception_encountered	7.37:g.119915061_119915062delinsAA	ENSP00000333496:p.Pro126Thr						p.I125I|p.P126T	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1340|1341	+	all_neural(327;0.117)		125|126			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent|Missense_Mutation	SNP	ENST00000331113.4	37	c.375C>A|c.376C>A	CCDS5776.1																																																																																				PASS	0.579	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		96|94	222	94	222	---	---	---	---
KLHDC10	23008	broad.mit.edu	37	7	129760629	129760629	+	Silent	SNP	G	G	T	rs544373260		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:129760629G>T	ENST00000335420.5	+	4	650	c.516G>T	c.(514-516)acG>acT	p.T172T		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	172						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T172T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TTGGAGGTACGGGCATCCCAT	0.478																																						uc003vpj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(514-516)ACG>ACT		kelch domain containing 10							225.0	197.0	207.0					7																	129760629		2203	4300	6503	SO:0001819	synonymous_variant	23008							g.chr7:129760629G>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.516G>T	7.37:g.129760629G>T						KLHDC10_uc003vpk.1_Silent_p.T143T|KLHDC10_uc010lmb.1_Silent_p.T69T	p.T172T	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN			4	651	+			172			Kelch 2.		Q86Y99|Q92554	Silent	SNP	ENST00000335420.5	37	c.516G>T	CCDS5815.1																																																																																				PASS	0.478	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			77	137	77	137	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149422441	149422441	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:149422441G>A	ENST00000485033.2	+	9	1162	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	KRBA1_ENST00000319551.8_Missense_Mutation_p.E388K|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.E388K			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	388								p.E388K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAAGCCCTGGAAGCCTGTCT	0.592																																						uc003wfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1162-1164)GAA>AAA		KRAB A domain containing 1							25.0	29.0	28.0					7																	149422441		1985	4182	6167	SO:0001583	missense	84626							g.chr7:149422441G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1162G>A	7.37:g.149422441G>A	ENSP00000420112:p.Glu388Lys					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.E56K	p.E388K	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		10	1561	+	Melanoma(164;0.165)|Ovarian(565;0.177)		388					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.1162G>A		.	.	.	.	.	.	.	.	.	.	G	25.9	4.689163	0.88735	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.51071	0.76;0.72;0.72	5.18	5.18	0.71444	.	0.000000	0.45126	D	0.000383	T	0.57725	0.2073	L	0.34521	1.04	0.36389	D	0.862429	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65685	-0.6108	10	0.56958	D	0.05	-25.2169	14.2164	0.65795	0.0:0.0:1.0:0.0	.	388;388	E7ENE9;A5PL33	.;KRBA1_HUMAN	K	388	ENSP00000255992:E388K;ENSP00000317165:E388K;ENSP00000420112:E388K	ENSP00000255992:E388K	E	+	1	0	KRBA1	149053374	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.592000	0.61027	2.421000	0.82119	0.655000	0.94253	GAA		PASS	0.592	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		8	12	8	12	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149497030	149497030	+	RNA	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:149497030C>A	ENST00000378016.2	+	0	7070							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGACCCTGCCACCAGGTATG	0.647																																						uc010lpk.2																			0					0						c.(7069-7071)CCA>CAA		SCO-spondin precursor							45.0	55.0	52.0					7																	149497030		2035	4185	6220			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149497030C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149497030C>A							p.P2357Q	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		49	7070	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2357					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.7070C>A																																																																																					PASS	0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				13	23	13	23	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150171294	150171294	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:150171294T>C	ENST00000307271.3	+	4	1451	c.877T>C	c.(877-879)Tgg>Cgg	p.W293R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	293	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.W293R(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGCAGAAGCTGGAGAAAAAA	0.458																																						uc003whj.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(877-879)TGG>CGG		GTPase, IMAP family member 8							80.0	88.0	86.0					7																	150171294		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171294T>C	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.877T>C	7.37:g.150171294T>C	ENSP00000305107:p.Trp293Arg						p.W293R	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1207	+			293						Missense_Mutation	SNP	ENST00000307271.3	37	c.877T>C	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014499	0.75161	.	.	ENSG00000171115	ENST00000307271	T	0.05580	3.42	4.47	3.3	0.37823	AIG1 (1);	0.379933	0.19667	N	0.108842	T	0.20210	0.0486	M	0.73962	2.25	0.21627	N	0.999615	D	0.89917	1.0	D	0.97110	1.0	T	0.01405	-1.1363	10	0.62326	D	0.03	.	7.3924	0.26917	0.0:0.0:0.2446:0.7554	.	293	Q8ND71	GIMA8_HUMAN	R	293	ENSP00000305107:W293R	ENSP00000305107:W293R	W	+	1	0	GIMAP8	149802227	0.972000	0.33761	0.607000	0.28956	0.717000	0.41224	2.035000	0.41155	1.895000	0.54865	0.528000	0.53228	TGG		PASS	0.458	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		50	105	50	105	---	---	---	---
GIMAP7	168537	broad.mit.edu	37	7	150217926	150217926	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:150217926G>C	ENST00000313543.4	+	2	1021	c.864G>C	c.(862-864)tgG>tgC	p.W288C		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	288					GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.W288C(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAAATATGGCATAGGTTTT	0.264																																						uc003whk.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(862-864)TGG>TGC		GTPase, IMAP family member 7							46.0	48.0	47.0					7																	150217926		2203	4275	6478	SO:0001583	missense	168537						GTP binding	g.chr7:150217926G>C	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.864G>C	7.37:g.150217926G>C	ENSP00000315474:p.Trp288Cys						p.W288C	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	994	+			288						Missense_Mutation	SNP	ENST00000313543.4	37	c.864G>C	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061766	0.36373	.	.	ENSG00000179144	ENST00000313543	T	0.05786	3.39	4.94	3.05	0.35203	.	0.978321	0.08338	N	0.961308	T	0.20170	0.0485	M	0.76002	2.32	0.18873	N	0.999988	D	0.89917	1.0	D	0.67231	0.95	T	0.18272	-1.0342	10	0.56958	D	0.05	.	5.3287	0.15920	0.1015:0.0:0.6965:0.2019	.	288	Q8NHV1	GIMA7_HUMAN	C	288	ENSP00000315474:W288C	ENSP00000315474:W288C	W	+	3	0	GIMAP7	149848859	0.000000	0.05858	0.123000	0.21794	0.053000	0.15095	0.185000	0.16958	2.587000	0.87381	0.650000	0.86243	TGG		PASS	0.264	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		14	45	14	45	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158438254	158438254	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr7:158438254C>A	ENST00000409423.1	-	27	3409	c.3237G>T	c.(3235-3237)gtG>gtT	p.V1079V	NCAPG2_ENST00000409339.3_Silent_p.V1079V|NCAPG2_ENST00000275830.10_Silent_p.V824V|NCAPG2_ENST00000356309.3_Silent_p.V1079V|NCAPG2_ENST00000449727.2_Silent_p.V1079V|NCAPG2_ENST00000541468.1_Silent_p.V533V	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	1079					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.V1079V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCGTGAGGCACACAATGCCTT	0.418																																						uc003wnv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(3235-3237)GTG>GTT		leucine zipper protein 5							96.0	89.0	91.0					7																	158438254		1939	4143	6082	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158438254C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.3237G>T	7.37:g.158438254C>A						NCAPG2_uc010lqu.1_Silent_p.V824V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.V1079V|NCAPG2_uc011kwe.1_Silent_p.V1079V|NCAPG2_uc011kwc.1_Silent_p.V533V|NCAPG2_uc011kwd.1_Silent_p.V522V	p.V1079V	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	26	3382	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	1079					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.3237G>T	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	1.302	-0.604675	0.03717	.	.	ENSG00000146918	ENST00000441982	.	.	.	4.75	-4.67	0.03319	.	.	.	.	.	T	0.46756	0.1409	.	.	.	0.51767	D	0.999939	.	.	.	.	.	.	T	0.45338	-0.9268	4	.	.	.	-15.9208	5.0927	0.14718	0.3024:0.2244:0.0:0.4732	.	.	.	.	F	834	.	.	C	-	2	0	NCAPG2	158131015	0.249000	0.23941	0.958000	0.39756	0.131000	0.20780	-1.195000	0.03043	-0.650000	0.05423	0.655000	0.94253	TGT		PASS	0.418	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		26	66	26	66	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2026941	2026941	+	Silent	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:2026941G>T	ENST00000262113.4	+	12	1530	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	463	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.A463A(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAACAGTGCGGGCATCAGCC	0.537																																						uc003wpx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1387-1389)GCG>GCT		myomesin 2							153.0	164.0	161.0					8																	2026941		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2026941G>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1389G>T	8.37:g.2026941G>T						MYOM2_uc011kwi.1_Intron	p.A463A	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	12	1527	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	463			Fibronectin type-III 1.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1389G>T	CCDS5957.1																																																																																				PASS	0.537	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		65	313	65	313	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3565943	3565943	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:3565943G>T	ENST00000520002.1	-	7	1557	c.1002C>A	c.(1000-1002)aaC>aaA	p.N334K	CSMD1_ENST00000602723.1_Missense_Mutation_p.N334K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N334K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N334K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N334K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N334K|CSMD1_ENST00000539096.1_Missense_Mutation_p.N334K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	334						integral component of membrane (GO:0016021)		p.N62K(1)|p.N334K(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)		CACAGACAGAGTTTTTATGGC	0.468																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(1000-1002)AAC>AAA		CUB and Sushi multiple domains 1 precursor							91.0	93.0	92.0					8																	3565943		1987	4169	6156	SO:0001583	missense	64478					integral to membrane		g.chr8:3565943G>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.1002C>A	8.37:g.3565943G>T	ENSP00000430733:p.Asn334Lys						p.N334K	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)	7	1392	-		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)	334			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1002C>A		.	.	.	.	.	.	.	.	.	.	G	11.97	1.797854	0.31777	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.24538	1.86;1.95;1.97;1.85;2.25	5.72	3.7	0.42460	.	.	.	.	.	T	0.30665	0.0772	L	0.36672	1.1	0.28183	N	0.928078	P	0.50528	0.936	P	0.61201	0.885	T	0.10965	-1.0607	9	0.24483	T	0.36	.	4.3107	0.10969	0.374:0.0:0.626:0.0	.	334	E5RIG2	.	K	334;334;196;334;334;334	ENSP00000383047:N334K;ENSP00000430733:N334K;ENSP00000441462:N334K;ENSP00000446243:N334K;ENSP00000441675:N334K	ENSP00000320445:N196K	N	-	3	2	CSMD1	3553351	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	1.867000	0.39499	1.414000	0.47017	-0.142000	0.14014	AAC		PASS	0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	24	8	24	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8176148	8176148	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:8176148C>T	ENST00000520004.1	-	6	4001	c.3737G>A	c.(3736-3738)cGc>cAc	p.R1246H	SGK223_ENST00000330777.4_Missense_Mutation_p.R1246H			Q86YV5	SG223_HUMAN		1250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R1246H(1)|p.R1248H(1)									ATCGAACTTGCGGTACTGGGA	0.622																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3736-3738)CGC>CAC		pragmin							36.0	41.0	39.0					8																	8176148		2002	4160	6162	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176148C>T																												ENST00000520004.1:c.3737G>A	8.37:g.8176148C>T	ENSP00000428054:p.Arg1246His						p.R1246H	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			5	3737	-			1246			Protein kinase.		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3737G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306022	0.81247	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14022	2.54;2.54	4.95	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.405271	0.24625	N	0.036921	T	0.24044	0.0582	L	0.51422	1.61	0.39690	D	0.971033	D	0.76494	0.999	D	0.65773	0.938	T	0.01202	-1.1420	10	0.72032	D	0.01	.	5.3025	0.15785	0.0:0.7622:0.0:0.2378	.	1246	Q86YV5	SG223_HUMAN	H	1246	ENSP00000330930:R1246H;ENSP00000428054:R1246H	ENSP00000330930:R1246H	R	-	2	0	AC068353.1	8213558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.129000	0.50500	2.750000	0.94351	0.467000	0.42956	CGC		PASS	0.622	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			4	63	4	63	---	---	---	---
DEFB136	613210	broad.mit.edu	37	8	11831460	11831460	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:11831460G>T	ENST00000382209.2	-	2	222	c.223C>A	c.(223-225)Cca>Aca	p.P75T		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	75					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.P75T(1)		endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		TGAACCCATGGATCTTTGGCT	0.458																																						uc011kxm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)CCA>ACA		beta-defensin 136 precursor							192.0	185.0	187.0					8																	11831460		1897	4118	6015	SO:0001583	missense	613210				defense response to bacterium	extracellular region		g.chr8:11831460G>T	DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"""Defensins, beta"""	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.223C>A	8.37:g.11831460G>T	ENSP00000371644:p.Pro75Thr						p.P75T	NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)	2	223	-			75					Q4QY36	Missense_Mutation	SNP	ENST00000382209.2	37	c.223C>A	CCDS43709.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367289	0.24771	.	.	ENSG00000205884	ENST00000382209	.	.	.	3.12	0.282	0.15692	.	.	.	.	.	T	0.29423	0.0733	.	.	.	0.09310	N	1	P	0.42908	0.793	B	0.42163	0.378	T	0.17048	-1.0382	7	0.87932	D	0	-5.5942	5.4136	0.16361	0.3984:0.0:0.6015:0.0	.	75	Q30KP8	DB136_HUMAN	T	75	.	ENSP00000371644:P75T	P	-	1	0	DEFB136	11868869	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-2.295000	0.01143	0.051000	0.15978	0.555000	0.69702	CCA		PASS	0.458	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	NM_001033018		46	202	46	202	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41530291	41530291	+	Silent	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:41530291G>C	ENST00000347528.4	-	38	4760	c.4677C>G	c.(4675-4677)acC>acG	p.T1559T	ANK1_ENST00000396942.1_Silent_p.T1559T|ANK1_ENST00000379758.2_Silent_p.T1559T|ANK1_ENST00000352337.4_Silent_p.T1559T|ANK1_ENST00000396945.1_Silent_p.T1559T|ANK1_ENST00000289734.7_Silent_p.T1559T|ANK1_ENST00000265709.8_Silent_p.T1600T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1559	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T1600T(1)|p.T1559T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCCAGCATGGTGTCATGCT	0.607																																						uc003xok.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4675-4677)ACC>ACG		ankyrin 1 isoform 1							50.0	49.0	49.0					8																	41530291		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530291G>C	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4677C>G	8.37:g.41530291G>C						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.T1559T|ANK1_uc003xoj.2_Silent_p.T1559T|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.T1600T	p.T1559T	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4761	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1559			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4677C>G	CCDS6119.1																																																																																				PASS	0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		21	68	21	68	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42608376	42608376	+	Silent	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:42608376A>G	ENST00000276410.2	-	6	1786	c.1431T>C	c.(1429-1431)ttT>ttC	p.F477F	CHRNA6_ENST00000534622.1_Silent_p.F462F	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	477					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.F477F(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CTGCAGTTCCAAATACACAGA	0.353																																						uc003xpj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1429-1431)TTT>TTC		cholinergic receptor, nicotinic, alpha 6							133.0	146.0	142.0					8																	42608376		2203	4300	6503	SO:0001819	synonymous_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42608376A>G	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1431T>C	8.37:g.42608376A>G						CHRNA6_uc011lcw.1_Silent_p.F462F	p.F477F	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		6	1477	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	477			Helical; (Potential).		B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	c.1431T>C	CCDS6135.1																																																																																				PASS	0.353	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			10	335	10	335	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61765996	61765996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:61765996G>T	ENST00000423902.2	+	31	7191	c.6712G>T	c.(6712-6714)Gaa>Taa	p.E2238*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2238	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E2238*(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAAGGTTCCGAAGAGGATGA	0.527																																						uc003xue.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6712-6714)GAA>TAA		chromodomain helicase DNA binding protein 7							69.0	71.0	70.0					8																	61765996		1983	4158	6141	SO:0001587	stop_gained	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765996G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6712G>T	8.37:g.61765996G>T	ENSP00000392028:p.Glu2238*						p.E2238*	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	7189	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2238			Glu-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	ENST00000423902.2	37	c.6712G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	50	16.708361	0.99870	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	.	.	.	5.3	5.3	0.74995	.	0.125698	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-21.4069	18.9564	0.92659	0.0:0.0:1.0:0.0	.	.	.	.	X	2238	.	ENSP00000307304:E2238X	E	+	1	0	CHD7	61928550	1.000000	0.71417	0.955000	0.39395	0.976000	0.68499	7.057000	0.76669	2.479000	0.83701	0.655000	0.94253	GAA		PASS	0.527	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		66	54	66	54	---	---	---	---
COPS5	10987	broad.mit.edu	37	8	67971496	67971496	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:67971496G>C	ENST00000357849.4	-	2	648	c.328C>G	c.(328-330)Cag>Gag	p.Q110E	PPP1R42_ENST00000517834.1_5'Flank|COPS5_ENST00000519963.1_5'Flank|COPS5_ENST00000517736.1_Missense_Mutation_p.Q46E|AC109335.1_ENST00000578628.1_RNA	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	110	MPN.				cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)	p.Q110E(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCAGCAGCCTGAGCATTTACT	0.408																																						uc003xxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(328-330)CAG>GAG		COP9 signalosome subunit 5							132.0	110.0	117.0					8																	67971496		2203	4300	6503	SO:0001583	missense	10987				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity	g.chr8:67971496G>C	U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.328C>G	8.37:g.67971496G>C	ENSP00000350512:p.Gln110Glu					COPS5_uc003xxd.2_Missense_Mutation_p.Q46E|COPS5_uc003xxf.2_Missense_Mutation_p.Q155E|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.Q110E	p.Q110E	NM_006837	NP_006828	Q92905	CSN5_HUMAN	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)		2	659	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	110			MPN.		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	ENST00000357849.4	37	c.328C>G	CCDS6198.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402861	0.83230	.	.	ENSG00000121022	ENST00000357849;ENST00000517736;ENST00000518747	T;T;T	0.53857	0.6;0.6;0.6	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.89715	3.055	0.80722	D	1	P;B;P	0.48162	0.906;0.08;0.766	P;B;P	0.53401	0.705;0.148;0.725	T	0.79543	-0.1760	10	0.72032	D	0.01	-8.1531	19.7153	0.96115	0.0:0.0:1.0:0.0	.	79;46;110	Q59GH5;E5RHH5;Q92905	.;.;CSN5_HUMAN	E	110;46;46	ENSP00000350512:Q110E;ENSP00000429774:Q46E;ENSP00000428586:Q46E	ENSP00000350512:Q110E	Q	-	1	0	COPS5	68134050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.703000	0.98714	2.731000	0.93534	0.655000	0.94253	CAG		PASS	0.408	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			7	163	7	163	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885963	88885963	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:88885963C>A	ENST00000319675.3	-	1	333	c.237G>T	c.(235-237)gcG>gcT	p.A79A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	79								p.A79A(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						TGTTGGTATTCGCCAGTATGC	0.552																																						uc003ydz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(235-237)GCG>GCT		WD repeat domain 21C							153.0	140.0	145.0					8																	88885963		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885963C>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.237G>T	8.37:g.88885963C>A							p.A79A	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	334	-			79						Silent	SNP	ENST00000319675.3	37	c.237G>T	CCDS6245.1																																																																																				PASS	0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		52	162	52	162	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110451248	110451248	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:110451248C>A	ENST00000378402.5	+	32	3987	c.3883C>A	c.(3883-3885)Ctt>Att	p.L1295I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1295	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L1297I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATTAGATGCCTTTTGCCCAA	0.393										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3883-3885)CTT>ATT		fibrocystin L precursor							134.0	130.0	131.0					8																	110451248		1836	4085	5921	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110451248C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3883C>A	8.37:g.110451248C>A	ENSP00000367655:p.Leu1295Ile	HNSCC(38;0.096)					p.L1295I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		32	3987	+			1295			Extracellular (Potential).|IPT/TIG 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3883C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224893	0.39300	.	.	ENSG00000205038	ENST00000378402	T	0.76186	-1.0	5.95	5.07	0.68467	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.364546	0.25037	N	0.033636	T	0.58323	0.2114	N	0.25992	0.78	0.22581	N	0.998962	B	0.10296	0.003	B	0.11329	0.006	T	0.38972	-0.9636	10	0.33940	T	0.23	.	7.0552	0.25095	0.1724:0.7434:0.0:0.0842	.	1295	Q86WI1	PKHL1_HUMAN	I	1295	ENSP00000367655:L1295I	ENSP00000367655:L1295I	L	+	1	0	PKHD1L1	110520424	0.989000	0.36119	1.000000	0.80357	0.969000	0.65631	0.394000	0.20834	2.824000	0.97209	0.655000	0.94253	CTT		PASS	0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		126	151	126	151	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113293416	113293416	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:113293416T>A	ENST00000297405.5	-	59	9739	c.9495A>T	c.(9493-9495)ttA>ttT	p.L3165F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2996F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3125F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3095F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3165	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L3165F(1)|p.L3125F(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						TACAGTTAGGTAAAGTTCCAG	0.318										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.(9493-9495)TTA>TTT		CUB and Sushi multiple domains 3 isoform 1							95.0	93.0	94.0					8																	113293416		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113293416T>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.9495A>T	8.37:g.113293416T>A	ENSP00000297405:p.Leu3165Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L2367F|CSMD3_uc003ynt.2_Missense_Mutation_p.L3125F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2996F	p.L3165F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			59	9654	-			3165			Extracellular (Potential).|Sushi 23.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9495A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211638	0.39102	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.67	1.9	0.25705	Complement control module (2);Sushi/SCR/CCP (3);	0.748686	0.11414	N	0.566535	T	0.64034	0.2562	L	0.46885	1.475	0.46028	D	0.998822	P;P;B	0.47545	0.897;0.619;0.409	P;P;B	0.52758	0.708;0.673;0.213	T	0.54002	-0.8358	10	0.33141	T	0.24	.	10.0184	0.42029	0.0:0.7299:0.0:0.2701	.	2996;3165;3125	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	3125;3165;2435;2996;3095	ENSP00000345799:L3125F;ENSP00000297405:L3165F;ENSP00000341558:L2435F;ENSP00000412263:L2996F;ENSP00000343124:L3095F	ENSP00000297405:L3165F	L	-	3	2	CSMD3	113362592	0.874000	0.30092	0.997000	0.53966	0.981000	0.71138	0.027000	0.13621	0.081000	0.16988	-0.145000	0.13849	TTA		PASS	0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	121	33	121	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116426604	116426604	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:116426604C>G	ENST00000220888.5	-	6	3652	c.3493G>C	c.(3493-3495)Gat>Cat	p.D1165H	TRPS1_ENST00000519076.1_Missense_Mutation_p.D919H|TRPS1_ENST00000395715.3_Missense_Mutation_p.D1178H|TRPS1_ENST00000520276.1_Missense_Mutation_p.D1169H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1165	Mediates interaction with RNF4. {ECO:0000250}.|Transcriptional repressor domain. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D1165H(1)|p.D1178H(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATCGCCAAATCTAGAGGAATG	0.473									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(3493-3495)GAT>CAT		zinc finger transcription factor TRPS1							84.0	83.0	83.0					8																	116426604		1959	4153	6112	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426604C>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3493G>C	8.37:g.116426604C>G	ENSP00000220888:p.Asp1165His					TRPS1_uc011lhy.1_Missense_Mutation_p.D1169H|TRPS1_uc003yny.2_Missense_Mutation_p.D1178H|TRPS1_uc010mcy.2_Missense_Mutation_p.D1165H	p.D1165H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	3952	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1165			Transcriptional repressor domain (By similarity).|Mediates interaction with RNF4 (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.3493G>C		.	.	.	.	.	.	.	.	.	.	C	18.31	3.596040	0.66332	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.98666	-5.06;-5.03;-5.0;-5.03	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.99914	1.1215	10	0.72032	D	0.01	.	19.7248	0.96160	0.0:1.0:0.0:0.0	.	1169;1165;1178	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	1178;1165;919;1169	ENSP00000379065:D1178H;ENSP00000220888:D1165H;ENSP00000428910:D919H;ENSP00000428680:D1169H	ENSP00000220888:D1165H	D	-	1	0	TRPS1	116495780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.737000	0.68606	2.642000	0.89623	0.655000	0.94253	GAT		PASS	0.473	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		53	54	53	54	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118175695	118175695	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:118175695C>A	ENST00000456015.2	+	6	755	c.755C>A	c.(754-756)aCa>aAa	p.T252K	SLC30A8_ENST00000519688.1_Missense_Mutation_p.T203K|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000521243.1_Missense_Mutation_p.T203K|SLC30A8_ENST00000427715.2_Missense_Mutation_p.T203K	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	252					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.T252K(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCAATCTGCACATTCATCTTT	0.378																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(754-756)ACA>AAA		solute carrier family 30 member 8							154.0	153.0	153.0					8																	118175695		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118175695C>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.755C>A	8.37:g.118175695C>A	ENSP00000415011:p.Thr252Lys					SLC30A8_uc010mcz.2_Missense_Mutation_p.T203K|SLC30A8_uc011lia.1_Missense_Mutation_p.T203K|SLC30A8_uc003yog.2_Missense_Mutation_p.T203K	p.T252K	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		6	985	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		252			Helical; (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.755C>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484262	0.63962	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.95	3.15	0.36227	.	0.052183	0.85682	D	0.000000	T	0.81856	0.4911	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83520	0.0085	10	0.87932	D	0	-13.088	9.7097	0.40238	0.0:0.8249:0.0:0.1751	.	252	Q8IWU4	ZNT8_HUMAN	K	203;203;203;252	ENSP00000428545:T203K;ENSP00000407505:T203K;ENSP00000431069:T203K;ENSP00000415011:T252K	ENSP00000407505:T203K	T	+	2	0	SLC30A8	118244876	1.000000	0.71417	0.971000	0.41717	0.465000	0.32709	4.789000	0.62446	0.763000	0.33175	0.655000	0.94253	ACA		PASS	0.378	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		58	99	58	99	---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141449292	141449292	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:141449292A>G	ENST00000438773.2	-	3	722	c.589T>C	c.(589-591)Tac>Cac	p.Y197H	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.Y295H|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.Y197H	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	197					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.Y295H(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CGCTTCTTGTAATGTCTAGAA	0.473																																						uc003yvj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(589-591)TAC>CAC		trafficking protein particle complex 9 isoform							63.0	61.0	62.0					8																	141449292		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141449292A>G	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.589T>C	8.37:g.141449292A>G	ENSP00000405060:p.Tyr197His					TRAPPC9_uc003yvh.2_Missense_Mutation_p.Y295H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.Y197H	p.Y197H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			3	723	-			197					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.589T>C	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.26|15.26	2.780795|2.780795	0.49891|0.49891	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.62|5.62	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65396|0.65396	0.2687|0.2687	L|L	0.45581|0.45581	1.43|1.43	0.36764|0.36764	D|D	0.883469|0.883469	.|D;P;P	.|0.89917	.|1.0;0.858;0.858	.|D;P;B	.|0.79108	.|0.992;0.465;0.363	T|T	0.64993|0.64993	-0.6276|-0.6276	5|9	.|0.15952	.|T	.|0.53	.|.	11.5162|11.5162	0.50522|0.50522	0.93:0.0:0.07:0.0|0.93:0.0:0.07:0.0	.|.	.|197;197;295	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	S|H	49|295;197;197	.|.	.|ENSP00000373978:Y197H	L|Y	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141518474|141518474	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.888000|0.888000	0.51559|0.51559	7.149000|7.149000	0.77396|0.77396	0.964000|0.964000	0.38108|0.38108	0.528000|0.528000	0.53228|0.53228	TTA|TAC		PASS	0.473	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		35	137	35	137	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143958177	143958177	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr8:143958177C>A	ENST00000292427.4	-	4	752	c.720G>T	c.(718-720)atG>atT	p.M240I	CYP11B1_ENST00000517471.1_Missense_Mutation_p.M240I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.M311I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	240					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.M240I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGCTCCTGGGCATGAACATGA	0.622									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(718-720)ATG>ATT		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						40.0	38.0	39.0					8																	143958177		2203	4299	6502	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143958177C>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.720G>T	8.37:g.143958177C>A	ENSP00000292427:p.Met240Ile					CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.M240I|CYP11B1_uc010mey.2_Missense_Mutation_p.M311I	p.M240I	NM_000497	NP_000488	P15538	C11B1_HUMAN			4	727	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		240					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.720G>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	8.705	0.910702	0.17833	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.66815	-0.23;-0.23;-0.23	4.17	1.19	0.21007	.	1.137000	0.06672	N	0.766387	T	0.47985	0.1475	N	0.16201	0.385	0.24488	N	0.994316	B;B;B	0.31153	0.302;0.034;0.31	B;B;B	0.29942	0.105;0.063;0.109	T	0.34179	-0.9839	10	0.26408	T	0.33	.	8.8017	0.34912	0.0:0.7065:0.0:0.2935	.	311;240;240	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	I	240;240;311	ENSP00000292427:M240I;ENSP00000428043:M240I;ENSP00000366903:M311I	ENSP00000292427:M240I	M	-	3	0	CYP11B1	143955179	0.201000	0.23410	0.021000	0.16686	0.182000	0.23217	-0.347000	0.07750	0.304000	0.22809	-0.266000	0.10368	ATG		PASS	0.622	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			7	34	7	34	---	---	---	---
SH3GL2	6456	broad.mit.edu	37	9	17761492	17761492	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:17761492C>A	ENST00000380607.4	+	3	292	c.172C>A	c.(172-174)Ctt>Att	p.L58I	SH3GL2_ENST00000537391.1_Missense_Mutation_p.L11I	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	58	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.L58I(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AATTGAATACCTTCAACCCAA	0.353																																						uc003zna.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(172-174)CTT>ATT		SH3-domain GRB2-like 2							122.0	119.0	120.0					9																	17761492		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17761492C>A	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.172C>A	9.37:g.17761492C>A	ENSP00000369981:p.Leu58Ile					SH3GL2_uc011lmx.1_Missense_Mutation_p.L23I|SH3GL2_uc011lmy.1_Missense_Mutation_p.L11I	p.L58I	NM_003026	NP_003017	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	3	460	+			58			BAR.|Binds and tubulates liposomes (By similarity).		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.172C>A	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416295	0.83449	.	.	ENSG00000107295	ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.70631	-0.5;-0.5	5.38	5.38	0.77491	BAR (3);	0.000000	0.64402	D	0.000001	D	0.87763	0.6259	M	0.92412	3.305	0.50467	D	0.99987	P;P	0.49961	0.93;0.823	D;D	0.66084	0.92;0.941	D	0.90416	0.4413	10	0.87932	D	0	.	17.8922	0.88876	0.0:1.0:0.0:0.0	.	23;58	B7Z7W3;Q99962	.;SH3G2_HUMAN	I	58;58;11	ENSP00000369981:L58I;ENSP00000443365:L11I	ENSP00000369981:L58I	L	+	1	0	SH3GL2	17751492	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.863000	0.69568	2.508000	0.84585	0.585000	0.79938	CTT		PASS	0.353	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		28	119	28	119	---	---	---	---
KLHL9	55958	broad.mit.edu	37	9	21333639	21333639	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:21333639C>A	ENST00000359039.4	-	1	1740	c.1220G>T	c.(1219-1221)cGc>cTc	p.R407L	KLHL9_ENST00000537938.1_Missense_Mutation_p.R339L			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	407					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.R407L(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AGCTGCACTGCGCCCACCAAC	0.448																																						uc003zoy.2																			1	Substitution - Missense(1)	p.R407C(1)	lung(1)	ovary(3)|skin(1)	4						c.(1219-1221)CGC>CTC		kelch-like 9							103.0	94.0	97.0					9																	21333639		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333639C>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1220G>T	9.37:g.21333639C>A	ENSP00000351933:p.Arg407Leu					KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	p.R407L	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1791	-			407			Kelch 3.		Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.1220G>T	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838514	0.71373	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.78364	-1.17;-1.17	4.68	4.68	0.58851	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	U	0.000000	D	0.85383	0.5684	M	0.65677	2.01	0.80722	D	1	D	0.64830	0.994	D	0.68943	0.961	D	0.83933	0.0307	10	0.31617	T	0.26	.	15.4894	0.75593	0.0:1.0:0.0:0.0	.	407	Q9P2J3	KLHL9_HUMAN	L	407;339	ENSP00000351933:R407L;ENSP00000437733:R339L	ENSP00000351933:R407L	R	-	2	0	KLHL9	21323639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.739000	0.84976	2.323000	0.78572	0.655000	0.94253	CGC		PASS	0.448	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		25	128	25	128	---	---	---	---
HNRNPK	3190	broad.mit.edu	37	9	86585085	86585085	+	Silent	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:86585085C>G	ENST00000376264.2	-	16	1611	c.1353G>C	c.(1351-1353)ctG>ctC	p.L451L	HNRNPK_ENST00000376281.4_Silent_p.L451L|HNRNPK_ENST00000376263.3_Silent_p.L451L|HNRNPK_ENST00000351839.3_Silent_p.L451L|HNRNPK_ENST00000360384.5_Silent_p.L451L|MIR7-1_ENST00000384871.1_RNA|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	451	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.L451L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ACCTGTTCTGCAGCAAATACT	0.358																																						uc004ang.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1351-1353)CTG>CTC		heterogeneous nuclear ribonucleoprotein K							105.0	101.0	103.0					9																	86585085		2203	4300	6503	SO:0001819	synonymous_variant	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86585085C>G		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.1353G>C	9.37:g.86585085C>G						HNRNPK_uc011lsw.1_Silent_p.L211L|HNRNPK_uc004and.3_Silent_p.L211L|HNRNPK_uc004ank.3_Silent_p.L450L|HNRNPK_uc004anf.3_Silent_p.L451L|HNRNPK_uc004anh.3_Silent_p.L427L|HNRNPK_uc011lsx.1_Silent_p.L427L|HNRNPK_uc004ani.3_Silent_p.L450L|HNRNPK_uc004anj.3_Silent_p.L450L|HNRNPK_uc004ann.3_Silent_p.L426L|HNRNPK_uc004anl.3_Silent_p.L451L|HNRNPK_uc004anm.3_Silent_p.L451L|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	p.L451L	NM_031262	NP_112552	P61978	HNRPK_HUMAN			16	1577	-			451			KH 3.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Silent	SNP	ENST00000376264.2	37	c.1353G>C	CCDS6667.1																																																																																				PASS	0.358	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			53	101	53	101	---	---	---	---
SLC35D2	11046	broad.mit.edu	37	9	99114388	99114388	+	Silent	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:99114388T>A	ENST00000253270.7	-	5	413	c.351A>T	c.(349-351)ctA>ctT	p.L117L	SLC35D2_ENST00000375257.1_Silent_p.L117L|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375259.4_Silent_p.L117L	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	117					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)	p.L117L(1)		endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				TGAACATCGGTAGGCTGCCAG	0.383																																						uc004awc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(349-351)CTA>CTT		solute carrier family 35, member D2							123.0	111.0	115.0					9																	99114388		2203	4300	6503	SO:0001819	synonymous_variant	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99114388T>A	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.351A>T	9.37:g.99114388T>A						SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Intron|SLC35D2_uc010msf.2_Silent_p.L117L|SLC35D2_uc004awd.2_Intron|SLC35D2_uc004awe.2_Silent_p.L117L	p.L117L	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN			5	427	-		Acute lymphoblastic leukemia(62;0.0167)	117			Cytoplasmic (Potential).		O95454|Q498C1|Q75W21|Q7Z5X5	Silent	SNP	ENST00000253270.7	37	c.351A>T	CCDS6717.1																																																																																				PASS	0.383	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			10	31	10	31	---	---	---	---
OR13C9	286362	broad.mit.edu	37	9	107379751	107379751	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:107379751C>A	ENST00000259362.1	-	1	734	c.735G>T	c.(733-735)ctG>ctT	p.L245L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L245L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGACCACAGTCAGATGGGCTG	0.413																																						uc011lvr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(733-735)CTG>CTT		olfactory receptor, family 13, subfamily C,							97.0	94.0	95.0					9																	107379751		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379751C>A		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.735G>T	9.37:g.107379751C>A							p.L245L	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	735	-			245			Helical; Name=6; (Potential).		Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.735G>T	CCDS35093.1																																																																																				PASS	0.413	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			54	90	54	90	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112898997	112898997	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:112898997G>A	ENST00000259318.7	+	2	687	c.480G>A	c.(478-480)cgG>cgA	p.R160R	PALM2-AKAP2_ENST00000302798.7_Silent_p.R391R|AKAP2_ENST00000555236.1_Silent_p.R391R|AKAP2_ENST00000510514.5_Silent_p.R391R|AKAP2_ENST00000374525.1_Silent_p.R249R|AKAP2_ENST00000434623.2_Silent_p.R249R|PALM2-AKAP2_ENST00000374530.3_Silent_p.R391R	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	160								p.R249R(1)|p.R391R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCAGCTCACGGTGTTCTTCCC	0.572																																						uc004bei.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1867-1869)CGG>CGA		A kinase (PRKA) anchor protein 2 isoform 2							75.0	68.0	71.0					9																	112898997		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112898997G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.480G>A	9.37:g.112898997G>A						PALM2-AKAP2_uc004bek.3_Silent_p.R391R|PALM2-AKAP2_uc004bej.3_Silent_p.R391R|PALM2-AKAP2_uc004bel.1_Silent_p.R201R|AKAP2_uc011lwi.1_Silent_p.R249R|AKAP2_uc004bem.2_Silent_p.R249R|PALM2-AKAP2_uc010mtw.1_Silent_p.R209R|AKAP2_uc011lwj.1_Silent_p.R160R|PALM2-AKAP2_uc004ben.2_Silent_p.R160R	p.R623R	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	2061	+			160					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.1869G>A	CCDS48003.1																																																																																				PASS	0.572	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		14	48	14	48	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135277305	135277305	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:135277305C>G	ENST00000334270.2	-	2	943	c.904G>C	c.(904-906)Gag>Cag	p.E302Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	302					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E302Q(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GCCCCAACCTCACTGCCCACT	0.448																																						uc004cbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(904-906)GAG>CAG		transcription termination factor, RNA polymerase							150.0	145.0	147.0					9																	135277305		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277305C>G	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.904G>C	9.37:g.135277305C>G	ENSP00000333920:p.Glu302Gln					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	p.E302Q	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	956	-		Myeloproliferative disorder(178;0.204)	302					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.904G>C	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	4.345	0.063469	0.08388	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.10288	2.89	2.08	-0.654	0.11443	.	.	.	.	.	T	0.07052	0.0179	L	0.36672	1.1	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.39418	-0.9615	9	0.30854	T	0.27	.	2.853	0.05563	0.0:0.4891:0.2983:0.2126	.	302	Q15361	TTF1_HUMAN	Q	302	ENSP00000333920:E302Q	ENSP00000245588:E302Q	E	-	1	0	TTF1	134267126	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.632000	0.05489	-0.029000	0.13827	0.467000	0.42956	GAG		PASS	0.448	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		16	341	16	341	---	---	---	---
GBGT1	26301	broad.mit.edu	37	9	136029595	136029595	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:136029595C>A	ENST00000372040.3	-	7	724	c.413G>T	c.(412-414)cGt>cTt	p.R138L	RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Missense_Mutation_p.V132L|GBGT1_ENST00000540636.1_Missense_Mutation_p.R121L|GBGT1_ENST00000372038.3_Silent_p.A150A	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	138					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)	p.R138L(1)		breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CCGGTACCCACGCATGAAGAA	0.597																																						uc004ccw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)CGT>CTT		globoside							49.0	53.0	52.0					9																	136029595		2203	4300	6503	SO:0001583	missense	26301				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding	g.chr9:136029595C>A	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.413G>T	9.37:g.136029595C>A	ENSP00000361110:p.Arg138Leu					RALGDS_uc011mcw.1_Intron|GBGT1_uc004ccx.2_Missense_Mutation_p.R91L|GBGT1_uc010nab.2_Silent_p.A150A|GBGT1_uc011mcx.1_Missense_Mutation_p.R121L|GBGT1_uc010nac.1_Missense_Mutation_p.R2L|GBGT1_uc004ccy.1_3'UTR	p.R138L	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	694	-			138			Lumenal (Potential).		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.413G>T	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.87|10.87	1.473987|1.473987	0.26423|0.26423	.|.	.|.	ENSG00000148288|ENSG00000148288	ENST00000372040;ENST00000540636|ENST00000372043	T;T|T	0.01165|0.21932	5.24;5.24|1.98	5.16|5.16	0.362|0.362	0.16113|0.16113	.|.	1.008970|.	0.07938|.	N|.	0.978653|.	T|T	0.15825|0.15825	0.0381|0.0381	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.28964|0.28964	-1.0027|-1.0027	10|6	0.62326|.	D|.	0.03|.	-13.852|-13.852	2.614|2.614	0.04899|0.04899	0.1456:0.4385:0.1474:0.2685|0.1456:0.4385:0.1474:0.2685	.|.	121;138|.	B7Z8S5;Q8N5D6|.	.;GBGT1_HUMAN|.	L|L	138;121|132	ENSP00000361110:R138L;ENSP00000437663:R121L|ENSP00000361113:V132L	ENSP00000361110:R138L|.	R|V	-|-	2|1	0|0	GBGT1|GBGT1	135019416|135019416	0.000000|0.000000	0.05858|0.05858	0.068000|0.068000	0.19968|0.19968	0.625000|0.625000	0.37756|0.37756	-0.564000|-0.564000	0.05936|0.05936	-0.173000|-0.173000	0.10761|0.10761	0.491000|0.491000	0.48974|0.48974	CGT|GTG		PASS	0.597	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		25	42	25	42	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139412363	139412363	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:139412363T>A	ENST00000277541.6	-	8	1357	c.1282A>T	c.(1282-1284)Aag>Tag	p.K428*	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	428	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K428*(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGATGCACTTGCCCGCATGC	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Nonsense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1282-1284)AAG>TAG		notch1 preproprotein							39.0	44.0	43.0					9																	139412363		2195	4288	6483	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412363T>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1282A>T	9.37:g.139412363T>A	ENSP00000277541:p.Lys428*	HNSCC(8;0.001)					p.K428*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1282	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	428			Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.1282A>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	T	39	7.791307	0.98492	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.57	4.57	0.56435	.	0.176224	0.47852	D	0.000206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.105	0.59241	0.0:0.0:0.0:1.0	.	.	.	.	X	428	.	ENSP00000277541:K428X	K	-	1	0	NOTCH1	138532184	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.946000	0.63576	1.696000	0.51158	0.379000	0.24179	AAG		PASS	0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		24	52	24	52	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139916869	139916869	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr9:139916869C>A	ENST00000371605.3	-	5	645	c.498G>T	c.(496-498)acG>acT	p.T166T	ABCA2_ENST00000265662.5_Silent_p.T167T|ABCA2_ENST00000341511.6_Silent_p.T167T|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	166					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.T167T(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACAAGTTTTGCGTCAGGAAAC	0.647																																						uc011mem.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(496-498)ACG>ACT		ATP-binding cassette, sub-family A, member 2							36.0	42.0	40.0					9																	139916869		2024	4167	6191	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139916869C>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.498G>T	9.37:g.139916869C>A						ABCA2_uc011mel.1_Silent_p.T167T|ABCA2_uc004ckl.1_Silent_p.T97T|ABCA2_uc004ckm.1_Silent_p.T197T|ABCA2_uc004cko.1_5'UTR|ABCA2_uc010nca.2_Silent_p.T97T	p.T166T	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	5	646	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	166					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.498G>T																																																																																					PASS	0.647	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		7	14	7	14	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27323831	27323831	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:27323831T>C	ENST00000376087.4	-	24	3713	c.3548A>G	c.(3547-3549)gAa>gGa	p.E1183G	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1199G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E740G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1182					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E1183G(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACTTTGCTTTTCACTCTCAGC	0.353																																						uc001ith.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(3544-3546)GAA>GGA		ankyrin repeat domain 26							170.0	159.0	162.0					10																	27323831		1864	4091	5955	SO:0001583	missense	22852					centrosome		g.chr10:27323831T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3548A>G	10.37:g.27323831T>C	ENSP00000365255:p.Glu1183Gly					ANKRD26_uc001itg.2_Missense_Mutation_p.E869G|ANKRD26_uc009xku.1_Missense_Mutation_p.E1183G	p.E1182G	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			24	3717	-			1182			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3545A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816940	0.70912	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.17213	2.29;2.29;2.29	5.49	5.49	0.81192	.	0.229069	0.28114	N	0.016550	T	0.27278	0.0669	L	0.41124	1.26	0.49130	D	0.99975	D;P;D	0.56035	0.974;0.956;0.958	P;P;B	0.56216	0.794;0.628;0.395	T	0.00964	-1.1498	10	0.59425	D	0.04	.	13.585	0.61926	0.0:0.0:0.0:1.0	.	1183;1182;1199	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	G	740;1183;1199	ENSP00000365238:E740G;ENSP00000365255:E1183G;ENSP00000405112:E1199G	ENSP00000365238:E740G	E	-	2	0	ANKRD26	27363837	1.000000	0.71417	0.025000	0.17156	0.901000	0.52897	6.828000	0.75308	2.097000	0.63578	0.477000	0.44152	GAA		PASS	0.353	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			47	185	47	185	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55719602	55719602	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:55719602C>T	ENST00000320301.6	-	23	3406	c.3012G>A	c.(3010-3012)ttG>ttA	p.L1004L	PCDH15_ENST00000437009.1_Silent_p.L933L|PCDH15_ENST00000395433.1_Silent_p.L982L|PCDH15_ENST00000395430.1_Silent_p.L1004L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.L1004L|PCDH15_ENST00000414778.1_Silent_p.L1009L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Silent_p.L1011L|PCDH15_ENST00000409834.1_Silent_p.L615L|PCDH15_ENST00000395445.1_Silent_p.L1011L|PCDH15_ENST00000395432.2_Silent_p.L967L|PCDH15_ENST00000361849.3_Silent_p.L1004L|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1004	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L1004L(2)|p.L1009L(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAACCACCACCAACTTAAAAA	0.393										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3010-3012)TTG>TTA		protocadherin 15 isoform CD1-4 precursor							68.0	62.0	64.0					10																	55719602		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55719602C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3012G>A	10.37:g.55719602C>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.L1009L|PCDH15_uc010qhr.1_Silent_p.L1004L|PCDH15_uc010qhs.1_Silent_p.L1016L|PCDH15_uc010qht.1_Silent_p.L1011L|PCDH15_uc010qhu.1_Silent_p.L1004L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.L1004L|PCDH15_uc010qhw.1_Silent_p.L967L|PCDH15_uc010qhx.1_Silent_p.L933L|PCDH15_uc010qhy.1_Silent_p.L1009L|PCDH15_uc010qhz.1_Silent_p.L1004L|PCDH15_uc010qia.1_Silent_p.L982L|PCDH15_uc010qib.1_Silent_p.L982L	p.L1004L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			23	3407	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1004			Extracellular (Potential).|Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.3012G>A	CCDS7248.1																																																																																				PASS	0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		8	81	8	81	---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63170096	63170096	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:63170096G>A	ENST00000399298.3	-	6	1459	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	364						integral component of membrane (GO:0016021)		p.S364F(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGTGTGGTGGGAGTCGTCGGA	0.572																																						uc001jlo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1090-1092)TCC>TTC		transmembrane protein 26							40.0	49.0	46.0					10																	63170096		1889	4113	6002	SO:0001583	missense	219623					integral to membrane		g.chr10:63170096G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.1091C>T	10.37:g.63170096G>A	ENSP00000382237:p.Ser364Phe					TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	p.S364F	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			6	1460	-	Prostate(12;0.0112)		364					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.1091C>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429642	0.25726	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.42	-3.07	0.05363	.	0.570425	0.16608	N	0.207027	T	0.14700	0.0355	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09662	-1.0664	9	0.46703	T	0.11	-16.6128	0.1964	0.00140	0.3539:0.2114:0.1739:0.2608	.	364	Q6ZUK4	TMM26_HUMAN	F	364	.	ENSP00000382237:S364F	S	-	2	0	TMEM26	62840102	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.158000	0.16422	-0.190000	0.10465	-0.982000	0.02568	TCC		PASS	0.572	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		12	66	12	66	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96602727	96602728	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:96602727_96602728CC>AA	ENST00000371321.3	+	7	1177_1178	c.1095_1096CC>AA	c.(1093-1098)agCCtg>agAAtg	p.365_366SL>RM	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	365					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.S365R(1)|p.S365_L366>RM(1)|p.L366M(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TCCCCACCAGCCTGCCCCATGC	0.525																																						uc010qnz.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)	|p.L366Q(1)	lung(3)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1093-1095)AGC>AGA|c.(1096-1098)CTG>ATG		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)																																			SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96602727C>A|g.chr10:96602728C>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	Exception_encountered	10.37:g.96602727_96602728delinsAA	ENSP00000360372:p.S365_L366delinsRM					CYP2C19_uc010qny.1_Missense_Mutation_p.S343R|CYP2C19_uc010qny.1_Missense_Mutation_p.L344M	p.S365R|p.L366M	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	7	1095|1096	+		Colorectal(252;0.09)	365|366					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1095C>A|c.1096C>A	CCDS7436.1																																																																																				PASS	0.525	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		65	194|193	65	193	---	---	---	---
SLC25A28	81894	broad.mit.edu	37	10	101370858	101370858	+	Silent	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:101370858T>C	ENST00000370495.4	-	4	871	c.843A>G	c.(841-843)ccA>ccG	p.P281P	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	281					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.P281P(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		AAACGTCCAGTGGGGTTGTGG	0.562																																						uc001kpx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(841-843)CCA>CCG		solute carrier family 25, member 28							100.0	102.0	101.0					10																	101370858		2001	4171	6172	SO:0001819	synonymous_variant	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101370858T>C	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.843A>G	10.37:g.101370858T>C						SLC25A28_uc001kpy.2_Silent_p.P94P	p.P281P	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	972	-		Colorectal(252;0.234)	281			Solcar 3.		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	ENST00000370495.4	37	c.843A>G	CCDS41559.1																																																																																				PASS	0.562	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		28	64	28	64	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118314941	118314941	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:118314941C>G	ENST00000369221.2	+	8	761	c.733C>G	c.(733-735)Cca>Gca	p.P245A		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	245					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.P245A(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AGATTTCTTTCCAAATGGAGG	0.388																																						uc001lcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(733-735)CCA>GCA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						121.0	123.0	122.0					10																	118314941		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118314941C>G	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.733C>G	10.37:g.118314941C>G	ENSP00000358223:p.Pro245Ala						p.P245A	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	8	776	+			245					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.733C>G	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614765	0.87359	.	.	ENSG00000175535	ENST00000369221	D	0.92495	-3.05	6.16	6.16	0.99307	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.97142	0.9066	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97192	0.9858	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	245	P16233	LIPP_HUMAN	A	245	ENSP00000358223:P245A	ENSP00000358223:P245A	P	+	1	0	PNLIP	118304931	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.624000	0.61254	2.937000	0.99478	0.650000	0.86243	CCA		PASS	0.388	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		31	183	31	183	---	---	---	---
SEC23IP	11196	broad.mit.edu	37	10	121677443	121677443	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:121677443A>T	ENST00000369075.3	+	9	1712	c.1640A>T	c.(1639-1641)tAc>tTc	p.Y547F	SEC23IP_ENST00000543134.1_Missense_Mutation_p.Y336F	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	547					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Y547F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGCCCCACCTACTGTCAGACA	0.383																																						uc001leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1639-1641)TAC>TTC		Sec23-interacting protein p125							74.0	76.0	76.0					10																	121677443		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121677443A>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1640A>T	10.37:g.121677443A>T	ENSP00000358071:p.Tyr547Phe					SEC23IP_uc010qtc.1_Missense_Mutation_p.Y336F|SEC23IP_uc009xzk.1_5'Flank	p.Y547F	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	9	1712	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	547					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1640A>T	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	33	5.240790	0.95240	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.56776	0.44;0.44	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.72843	-0.4170	10	0.42905	T	0.14	-12.8493	15.9043	0.79412	1.0:0.0:0.0:0.0	.	336;547	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	F	547;336	ENSP00000358071:Y547F;ENSP00000438773:Y336F	ENSP00000358071:Y547F	Y	+	2	0	SEC23IP	121667433	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.071000	0.93980	2.219000	0.72066	0.533000	0.62120	TAC		PASS	0.383	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			25	143	25	143	---	---	---	---
FAM24A	118670	broad.mit.edu	37	10	124672393	124672393	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:124672393T>A	ENST00000368894.1	+	3	362	c.241T>A	c.(241-243)Tgc>Agc	p.C81S		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	81						extracellular region (GO:0005576)		p.C81S(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		ATCTCTCCAGTGCTGTGAAGG	0.507																																						uc001lgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(241-243)TGC>AGC		family with sequence similarity 24, member A							176.0	126.0	143.0					10																	124672393		2203	4300	6503	SO:0001583	missense	118670					extracellular region		g.chr10:124672393T>A		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.241T>A	10.37:g.124672393T>A	ENSP00000357889:p.Cys81Ser						p.C81S	NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	3	362	+		all_neural(114;0.169)|Glioma(114;0.222)	81						Missense_Mutation	SNP	ENST00000368894.1	37	c.241T>A	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.991128	0.35131	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.46	-0.248	0.13015	.	1.410830	0.04668	N	0.410214	T	0.42154	0.1190	L	0.36672	1.1	0.09310	N	1	D	0.62365	0.991	P	0.58130	0.833	T	0.31833	-0.9929	9	0.48119	T	0.1	.	5.8848	0.18876	0.0:0.4548:0.0:0.5452	.	81	A6NFZ4	FA24A_HUMAN	S	81	.	ENSP00000357889:C81S	C	+	1	0	FAM24A	124662383	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-2.842000	0.00737	-0.055000	0.13244	0.459000	0.35465	TGC		PASS	0.507	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		19	119	19	119	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127806717	127806717	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:127806717G>T	ENST00000368679.4	-	6	811	c.502C>A	c.(502-504)Cca>Aca	p.P168T	ADAM12_ENST00000368676.4_Missense_Mutation_p.P168T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	168					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.P168T(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCTTCGCTGGGAAGAGTTTG	0.423																																						uc001ljk.2																			3	Substitution - Missense(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(502-504)CCA>ACA		ADAM metallopeptidase domain 12 isoform 1							151.0	131.0	138.0					10																	127806717		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127806717G>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.502C>A	10.37:g.127806717G>T	ENSP00000357668:p.Pro168Thr					ADAM12_uc010qul.1_Missense_Mutation_p.P165T|ADAM12_uc001ljm.2_Missense_Mutation_p.P168T|ADAM12_uc001ljn.2_Missense_Mutation_p.P165T|ADAM12_uc001ljl.3_Missense_Mutation_p.P165T	p.P168T	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	6	915	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	168					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.502C>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275383	0.23307	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21932	4.76;1.98;3.68	5.03	3.12	0.35913	.	0.584183	0.16825	N	0.198018	T	0.12518	0.0304	N	0.08118	0	0.09310	N	0.999997	B;B;B;B;B	0.15141	0.007;0.012;0.012;0.012;0.007	B;B;B;B;B	0.18871	0.01;0.023;0.023;0.023;0.018	T	0.24297	-1.0164	10	0.56958	D	0.05	.	13.4479	0.61151	0.0:0.3:0.7:0.0	.	165;165;168;165;168	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	T	168;168;165	ENSP00000357668:P168T;ENSP00000357665:P168T;ENSP00000391268:P165T	ENSP00000357665:P168T	P	-	1	0	ADAM12	127796707	0.099000	0.21834	0.531000	0.27976	0.703000	0.40648	1.048000	0.30379	0.662000	0.31006	0.655000	0.94253	CCA		PASS	0.423	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			32	151	32	151	---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128974520	128974520	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:128974520A>T	ENST00000522781.1	-	4	695	c.140T>A	c.(139-141)gTg>gAg	p.V47E	FAM196A_ENST00000424811.2_Missense_Mutation_p.V47E|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	47								p.V47E(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						CTTAAACCGCACCTGCAGGGC	0.607																																						uc001lju.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(139-141)GTG>GAG		hypothetical protein LOC642938							117.0	121.0	120.0					10																	128974520		2203	4300	6503	SO:0001583	missense	642938							g.chr10:128974520A>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.140T>A	10.37:g.128974520A>T	ENSP00000429763:p.Val47Glu					DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.V47E|FAM196A_uc001ljv.1_Missense_Mutation_p.V47E|FAM196A_uc009yap.1_Missense_Mutation_p.V47E	p.V47E	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			1	181	-			47					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.140T>A	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327158	0.81690	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.68903	-0.36;-0.36	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77664	-0.2503	10	0.87932	D	0	.	15.5943	0.76566	1.0:0.0:0.0:0.0	.	47;47	B7ZME7;Q6ZSG2	.;F196A_HUMAN	E	47	ENSP00000429763:V47E;ENSP00000428730:V47E	ENSP00000428730:V47E	V	-	2	0	FAM196A	128864510	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	8.962000	0.93254	2.146000	0.66826	0.379000	0.24179	GTG		PASS	0.607	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		48	280	48	280	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135106147	135106147	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr10:135106147C>G	ENST00000252936.3	-	7	1109	c.1070G>C	c.(1069-1071)aGc>aCc	p.S357T	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S385T|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.S227T|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.S357T|TUBGCP2_ENST00000368562.1_5'Flank			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	357					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.S357T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GTGGAGCAGGCTCAGCGTGGA	0.622																																						uc001lmg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1069-1071)AGC>ACC		tubulin, gamma complex associated protein 2							102.0	89.0	93.0					10																	135106147		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106147C>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1070G>C	10.37:g.135106147C>G	ENSP00000252936:p.Ser357Thr					TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Missense_Mutation_p.S385T|TUBGCP2_uc009ybk.1_Missense_Mutation_p.S357T|TUBGCP2_uc010qvd.1_Missense_Mutation_p.S227T|TUBGCP2_uc001lmh.1_RNA	p.S357T	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	8	1427	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	357					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1070G>C	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118803	0.37436	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	N	0.20845	0.615	0.80722	D	1	P;P;P	0.41597	0.51;0.756;0.553	B;P;P	0.47786	0.279;0.456;0.557	T	0.15925	-1.0420	10	0.33141	T	0.24	-35.648	16.9761	0.86313	0.0:1.0:0.0:0.0	.	385;385;357	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	T	357;227;357;385	ENSP00000252936:S357T;ENSP00000395666:S227T;ENSP00000357551:S357T;ENSP00000446093:S385T	ENSP00000252936:S357T	S	-	2	0	TUBGCP2	134956137	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	7.509000	0.81698	2.426000	0.82243	0.484000	0.47621	AGC		PASS	0.622	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			6	46	6	46	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3714580	3714580	+	Missense_Mutation	SNP	T	T	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:3714580T>G	ENST00000324932.7	-	27	4613	c.4193A>C	c.(4192-4194)cAa>cCa	p.Q1398P	snoU13_ENST00000458786.1_RNA|NUP98_ENST00000359171.4_Missense_Mutation_p.Q1398P|NUP98_ENST00000488828.1_5'Flank|NUP98_ENST00000355260.3_Missense_Mutation_p.Q1398P	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1415					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.Q1398P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACGTTTATTTGCTTCTTTTC	0.458			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(4192-4194)CAA>CCA		nucleoporin 98kD isoform 1							180.0	171.0	174.0					11																	3714580		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3714580T>G	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4193A>C	11.37:g.3714580T>G	ENSP00000316032:p.Gln1398Pro					NUP98_uc001lyi.2_Missense_Mutation_p.Q1398P|NUP98_uc001lyg.2_Missense_Mutation_p.Q363P	p.Q1398P	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	27	4484	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1415					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.4193A>C	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	9.597	1.127639	0.20959	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.75	3.47	0.39725	.	0.494897	0.22396	N	0.060611	T	0.16128	0.0388	N	0.11064	0.09	0.20926	N	0.999825	B;B;B	0.32203	0.36;0.205;0.004	B;B;B	0.30646	0.118;0.064;0.003	T	0.07829	-1.0752	9	0.27785	T	0.31	-2.7092	5.5439	0.17053	0.0:0.2639:0.0:0.7361	.	1398;1398;1312	P52948-2;P52948-5;P52948-6	.;.;.	P	1398	.	ENSP00000316032:Q1398P	Q	-	2	0	NUP98	3671156	0.009000	0.17119	1.000000	0.80357	0.323000	0.28346	0.316000	0.19469	2.203000	0.70933	0.456000	0.33151	CAA		PASS	0.458	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		24	146	24	146	---	---	---	---
OR52M1	119772	broad.mit.edu	37	11	4566615	4566615	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:4566615G>T	ENST00000360213.1	+	1	195	c.195G>T	c.(193-195)ttG>ttT	p.L65F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L65F(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTTTTCTTGTGCATGTTGG	0.522																																						uc010qyf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)TTG>TTT		olfactory receptor, family 52, subfamily M,							152.0	140.0	144.0					11																	4566615		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566615G>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.195G>T	11.37:g.4566615G>T	ENSP00000353343:p.Leu65Phe						p.L65F	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	195	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	65			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000360213.1	37	c.195G>T	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512632	0.44660	.	.	ENSG00000197790	ENST00000360213	T	0.14391	2.51	4.82	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37136	N	0.002228	T	0.39937	0.1097	H	0.95224	3.64	0.09310	N	0.999996	D	0.76494	0.999	D	0.68621	0.959	T	0.32428	-0.9907	10	0.72032	D	0.01	.	3.2922	0.06953	0.0819:0.2397:0.4151:0.2633	.	65	Q8NGK5	O52M1_HUMAN	F	65	ENSP00000353343:L65F	ENSP00000353343:L65F	L	+	3	2	OR52M1	4523191	0.000000	0.05858	0.998000	0.56505	0.918000	0.54935	-0.737000	0.04877	0.322000	0.23283	-0.136000	0.14681	TTG		PASS	0.522	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		42	92	42	92	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5345100	5345101	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:5345100_5345101CC>AA	ENST00000328813.2	-	1	481_482	c.427_428GG>TT	c.(427-429)GGa>TTa	p.G143L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G143L(1)|p.G143V(1)|p.G143*(1)|p.G143R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTCCCACTCCTAACGCTATG	0.411																																						uc001mao.1																			4	Substitution - Missense(3)|Substitution - Nonsense(1)		lung(4)	ovary(2)|skin(1)	3						c.(427-429)GGA>GTA|c.(427-429)GGA>TGA		olfactory receptor, family 51, subfamily B,																																				SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345100C>A|g.chr11:5345101C>A	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.427_428delinsAA	11.37:g.5345100_5345101delinsAA	ENSP00000327540:p.Gly143Leu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.G143V|p.G143*	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	483|482	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	143			Helical; Name=4; (Potential).		Q96RD4	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000328813.2	37	c.428G>T|c.427G>T	CCDS31377.1																																																																																				PASS	0.411	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		31|33	104|106	31	104	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048063	6048063	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:6048063G>T	ENST00000316650.5	-	1	908	c.872C>A	c.(871-873)cCt>cAt	p.P291H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P291H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGCAGGAGGAATAAGGTG	0.463																																						uc010qzw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(871-873)CCT>CAT		olfactory receptor, family 56, subfamily A,							114.0	104.0	108.0					11																	6048063		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048063G>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.872C>A	11.37:g.6048063G>T	ENSP00000321246:p.Pro291His						p.P291H	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	872	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	291			Helical; Name=7; (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.872C>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080967	0.36758	.	.	ENSG00000180934	ENST00000316650	T	0.37058	1.22	4.27	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000718	T	0.65729	0.2719	M	0.92738	3.34	0.09310	N	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.61138	-0.7123	10	0.87932	D	0	.	11.1515	0.48462	0.0917:0.0:0.9083:0.0	.	291	Q8NGH5	O56A1_HUMAN	H	291	ENSP00000321246:P291H	ENSP00000321246:P291H	P	-	2	0	OR56A1	6004639	0.997000	0.39634	0.089000	0.20774	0.787000	0.44495	3.573000	0.53856	1.145000	0.42336	-0.136000	0.14681	CCT		PASS	0.463	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		34	80	34	80	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7079636	7079636	+	Missense_Mutation	SNP	T	T	C	rs369413951	byFrequency	TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:7079636T>C	ENST00000299481.4	+	8	2934	c.2588T>C	c.(2587-2589)aTg>aCg	p.M863T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	863					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.M863T(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTAAAGCTTATGAGTGATGCC	0.388													T|||	3	0.000599042	0.0023	0.0	5008	,	,		19468	0.0		0.0	False		,,,				2504	0.0					uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2587-2589)ATG>ACG		NLR family, pyrin domain containing 14		T	THR/MET	3,4399	6.2+/-15.9	0,3,2198	195.0	163.0	174.0		2588	4.2	0.0	11		174	0,8592		0,0,4296	no	missense	NLRP14	NM_176822.3	81	0,3,6494	CC,CT,TT		0.0,0.0682,0.0231	benign	863/1094	7079636	3,12991	2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079636T>C	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2588T>C	11.37:g.7079636T>C	ENSP00000299481:p.Met863Thr						p.M863T	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	8	2911	+			863			LRR 5.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2588T>C	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	T	5.017	0.188807	0.09547	6.82E-4	0.0	ENSG00000158077	ENST00000299481	T	0.13196	2.61	4.2	4.2	0.49525	.	0.861460	0.09649	N	0.773927	T	0.14830	0.0358	L	0.52573	1.65	0.09310	N	1	P	0.36282	0.546	B	0.33960	0.173	T	0.15607	-1.0431	10	0.87932	D	0	.	9.8478	0.41037	0.0:0.0:0.0:1.0	.	863	Q86W24	NAL14_HUMAN	T	863	ENSP00000299481:M863T	ENSP00000299481:M863T	M	+	2	0	NLRP14	7036212	0.905000	0.30787	0.002000	0.10522	0.007000	0.05969	5.050000	0.64251	1.911000	0.55334	0.528000	0.53228	ATG		PASS	0.388	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		59	133	59	133	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19901506	19901506	+	Missense_Mutation	SNP	C	C	G	rs371613686		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:19901506C>G	ENST00000396087.3	+	5	702	c.603C>G	c.(601-603)caC>caG	p.H201Q	NAV2_ENST00000540292.1_Missense_Mutation_p.H132Q|NAV2_ENST00000349880.4_Missense_Mutation_p.H201Q|NAV2_ENST00000360655.4_Missense_Mutation_p.H137Q|NAV2_ENST00000396085.1_Missense_Mutation_p.H201Q|NAV2_ENST00000527559.2_Missense_Mutation_p.H130Q|NAV2_ENST00000534229.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	201	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.H201Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						agaagcagcaCCTCTCCTCAC	0.637																																						uc010rdm.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(601-603)CAC>CAG		neuron navigator 2 isoform 2							32.0	37.0	35.0					11																	19901506		2199	4292	6491	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19901506C>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.603C>G	11.37:g.19901506C>G	ENSP00000379396:p.His201Gln					NAV2_uc001mpp.2_Missense_Mutation_p.H137Q|NAV2_uc001mpr.3_Missense_Mutation_p.H201Q	p.H201Q	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			5	964	+			201			Gln-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.603C>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431304	0.25813	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.26067	1.76;1.86;1.84;1.86;1.76;1.76	5.93	1.48	0.22813	.	0.440276	0.21549	N	0.072780	T	0.10508	0.0257	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.16808	-1.0390	9	.	.	.	.	7.3758	0.26827	0.0:0.5616:0.2266:0.2117	.	201;137	Q8IVL1-3;Q8IVL1-4	.;.	Q	137;201;201;201;130;132	ENSP00000353871:H137Q;ENSP00000379394:H201Q;ENSP00000309577:H201Q;ENSP00000379396:H201Q;ENSP00000435395:H130Q;ENSP00000443489:H132Q	.	H	+	3	2	NAV2	19858082	0.649000	0.27322	0.990000	0.47175	0.954000	0.61252	0.955000	0.29188	0.420000	0.25954	0.561000	0.74099	CAC		PASS	0.637	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		5	6	5	6	---	---	---	---
FIBIN	387758	broad.mit.edu	37	11	27016314	27016314	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:27016314C>A	ENST00000318627.2	+	1	687	c.241C>A	c.(241-243)Cgg>Agg	p.R81R		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	81						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)		p.R81R(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTCACCCTGCGGGAGGAGTT	0.657																																						uc001mrd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)CGG>AGG		fin bud initiation factor homolog precursor							29.0	26.0	27.0					11																	27016314		2203	4298	6501	SO:0001819	synonymous_variant	387758					extracellular region|Golgi apparatus		g.chr11:27016314C>A	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.241C>A	11.37:g.27016314C>A							p.R81R	NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN			1	687	+			81						Silent	SNP	ENST00000318627.2	37	c.241C>A	CCDS7861.1																																																																																				PASS	0.657	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		13	28	13	28	---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44102757	44102757	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:44102757G>T	ENST00000263776.8	+	12	1432	c.998G>T	c.(997-999)gGc>gTc	p.G333V		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	333					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.G333V(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CTCCGCTTTGGCACGCTGTAC	0.627																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(997-999)GGC>GTC		1-aminocyclopropane-1-carboxylate synthase							92.0	86.0	88.0					11																	44102757		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44102757G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.998G>T	11.37:g.44102757G>T	ENSP00000263776:p.Gly333Val					EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.G333V	p.G333V	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			12	1142	+			333					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.998G>T	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159391	0.38119	.	.	ENSG00000110455	ENST00000263776	D	0.98717	-5.09	5.31	3.44	0.39384	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.97806	4.08	0.80722	D	1	D	0.59767	0.986	D	0.70016	0.967	D	0.98652	1.0680	10	0.87932	D	0	-20.413	10.7224	0.46048	0.0723:0.1322:0.7956:0.0	.	333	Q96QU6	1A1L1_HUMAN	V	333	ENSP00000263776:G333V	ENSP00000263776:G333V	G	+	2	0	ACCS	44059333	1.000000	0.71417	0.095000	0.20976	0.009000	0.06853	6.200000	0.72118	0.635000	0.30488	-0.818000	0.03119	GGC		PASS	0.627	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		19	165	19	165	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47305939	47305939	+	Silent	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:47305939G>C	ENST00000311027.5	+	12	2145	c.1980G>C	c.(1978-1980)ctG>ctC	p.L660L	MADD_ENST00000395344.3_Silent_p.L660L|MADD_ENST00000349238.3_Silent_p.L660L|MADD_ENST00000407859.3_Silent_p.L660L|MADD_ENST00000395336.3_Silent_p.L660L|MADD_ENST00000402799.1_Silent_p.L660L|MADD_ENST00000406482.1_Silent_p.L660L|MADD_ENST00000402192.2_Silent_p.L660L|MADD_ENST00000342922.4_Silent_p.L660L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.L660L(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGGACCCTCTGACACATGCAG	0.597																																						uc001ner.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(1978-1980)CTG>CTC		MAP-kinase activating death domain-containing							78.0	82.0	80.0					11																	47305939		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47305939G>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1980G>C	11.37:g.47305939G>C						MADD_uc001neq.2_Silent_p.L660L|MADD_uc001nev.1_Silent_p.L660L|MADD_uc001nes.1_Silent_p.L660L|MADD_uc001net.1_Silent_p.L660L|MADD_uc009yln.1_Silent_p.L660L|MADD_uc001neu.1_Silent_p.L660L|MADD_uc001nex.2_Silent_p.L660L|MADD_uc001nez.2_Silent_p.L660L|MADD_uc001new.2_Silent_p.L660L	p.L660L	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	12	2171	+			660						Silent	SNP	ENST00000311027.5	37	c.1980G>C	CCDS7930.1																																																																																				PASS	0.597	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			26	166	26	166	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49175785	49175785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:49175785G>T	ENST00000256999.2	-	16	2143	c.1883C>A	c.(1882-1884)tCa>tAa	p.S628*	FOLH1_ENST00000340334.7_Nonsense_Mutation_p.S613*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.S628*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.S613*|FOLH1_ENST00000343844.4_Nonsense_Mutation_p.S320*	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	628					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.S628*(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)	CATACCAAATGATACACTGTA	0.313																																						uc001ngy.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1882-1884)TCA>TAA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						131.0	121.0	124.0					11																	49175785		2201	4298	6499	SO:0001587	stop_gained	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175785G>T	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.1883C>A	11.37:g.49175785G>T	ENSP00000256999:p.Ser628*					FOLH1_uc001ngx.2_Nonsense_Mutation_p.S60*|FOLH1_uc001ngz.2_Nonsense_Mutation_p.S628*|FOLH1_uc009yly.2_Nonsense_Mutation_p.S613*|FOLH1_uc009ylz.2_Nonsense_Mutation_p.S613*|FOLH1_uc009yma.2_Nonsense_Mutation_p.S320*	p.S628*	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			16	2144	-			628			Extracellular (Probable).	Charge relay system (Potential).	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP	ENST00000256999.2	37	c.1883C>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	39	7.385193	0.98252	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	.	.	.	3.62	3.62	0.41486	.	0.000000	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.124	0.59342	0.0:0.0:1.0:0.0	.	.	.	.	X	628;628;613;320;613	.	ENSP00000256999:S628X	S	-	2	0	FOLH1	49132361	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	6.794000	0.75135	2.044000	0.60594	0.404000	0.27445	TCA		PASS	0.313	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		7	212	7	212	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563077	55563077	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:55563077C>T	ENST00000335605.1	+	1	46	c.46C>T	c.(46-48)Ctt>Ttt	p.L16F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L16F(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)				CACCTTTGCCCTTTTAGGTTT	0.408																																						uc010rim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(46-48)CTT>TTT		olfactory receptor, family 5, subfamily D,							118.0	116.0	117.0					11																	55563077		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563077C>T	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.46C>T	11.37:g.55563077C>T	ENSP00000334456:p.Leu16Phe						p.L16F	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	46	+		all_epithelial(135;0.196)	16			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.46C>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.122525	0.37436	.	.	ENSG00000186113	ENST00000335605	T	0.00949	5.51	5.07	5.07	0.68467	.	0.000000	0.40144	N	0.001172	T	0.03434	0.0099	M	0.76002	2.32	0.44643	D	0.997624	P	0.45531	0.86	P	0.50192	0.634	T	0.50625	-0.8806	10	0.49607	T	0.09	-23.5004	17.0532	0.86525	0.0:1.0:0.0:0.0	.	16	Q8NGL3	OR5DE_HUMAN	F	16	ENSP00000334456:L16F	ENSP00000334456:L16F	L	+	1	0	OR5D14	55319653	0.635000	0.27199	0.074000	0.20217	0.017000	0.09413	1.405000	0.34635	2.359000	0.80004	0.637000	0.83480	CTT		PASS	0.408	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		92	193	92	193	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587837	55587837	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:55587837C>T	ENST00000333976.4	+	1	752	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S244S(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)				CCTGTGCCTCCCACCTGACTG	0.517																																						uc010rin.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(730-732)TCC>TCT		olfactory receptor, family 5, subfamily D,							129.0	111.0	117.0					11																	55587837		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587837C>T	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.732C>T	11.37:g.55587837C>T							p.S244S	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	732	+		all_epithelial(135;0.208)	244			Helical; Name=6; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.732C>T	CCDS31510.1																																																																																				PASS	0.517	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		28	136	28	136	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55655637	55655637	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:55655637A>G	ENST00000449290.2	+	4	729	c.637A>G	c.(637-639)Aat>Gat	p.N213D	TRIM51_ENST00000244891.3_Missense_Mutation_p.N70D	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	213						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.N213D(1)|p.N54D(1)									TCAGCAACTCAATGAAAGCAA	0.448																																						uc010rip.1																			2	Substitution - Missense(2)		lung(2)		0						c.(637-639)AAT>GAT		SPRY domain containing 5							53.0	50.0	51.0					11																	55655637		2201	4295	6496	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655637A>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.637A>G	11.37:g.55655637A>G	ENSP00000395086:p.Asn213Asp					SPRYD5_uc010riq.1_Missense_Mutation_p.N70D	p.N213D	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			4	729	+		all_epithelial(135;0.226)	213					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.637A>G		.	.	.	.	.	.	.	.	.	.	.	4.785	0.145878	0.09134	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04551	3.6;3.6	0.757	0.757	0.18427	.	.	.	.	.	T	0.06690	0.0171	M	0.80982	2.52	0.09310	N	1	B	0.25850	0.136	B	0.22601	0.04	T	0.36311	-0.9753	9	0.24483	T	0.36	.	3.8345	0.08888	1.0:0.0:0.0:0.0	.	213	Q9BSJ1	SPRY5_HUMAN	D	213;70	ENSP00000395086:N213D;ENSP00000244891:N70D	ENSP00000244891:N70D	N	+	1	0	SPRYD5	55412213	0.027000	0.19231	0.063000	0.19743	0.579000	0.36224	1.298000	0.33412	0.594000	0.29761	0.128000	0.15822	AAT		PASS	0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		26	93	26	93	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944867	55944867	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:55944867C>T	ENST00000312298.1	+	1	774	c.774C>T	c.(772-774)agC>agT	p.S258S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S258S(1)|p.S258R(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)					TAATCTTTAGCTACATTCAGC	0.453																																						uc010rjb.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(772-774)AGC>AGT		olfactory receptor, family 5, subfamily J,							125.0	123.0	124.0					11																	55944867		2201	4296	6497	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944867C>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.774C>T	11.37:g.55944867C>T							p.S258S	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	774	+	Esophageal squamous(21;0.00693)		258			Helical; Name=6; (Potential).		Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.774C>T	CCDS31522.1																																																																																				PASS	0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		74	210	74	210	---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57583454	57583454	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:57583454A>T	ENST00000399050.4	+	20	3412	c.2876A>T	c.(2875-2877)cAa>cTa	p.Q959L	CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000415361.2_Missense_Mutation_p.Q858L|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000532787.1_Missense_Mutation_p.Q831L|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000532844.1_Missense_Mutation_p.Q905L|CTNND1_ENST00000361332.4_Missense_Mutation_p.Q953L|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000526357.1_Missense_Mutation_p.Q899L|CTNND1_ENST00000528621.1_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000399039.4_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.Q938L|CTNND1_ENST00000529919.1_Intron|CTNND1_ENST00000533667.1_Missense_Mutation_p.Q609L|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000530094.1_Missense_Mutation_p.Q852L|CTNND1_ENST00000527467.1_Missense_Mutation_p.Q636L|CTNND1_ENST00000529873.1_Missense_Mutation_p.Q878L|CTNND1_ENST00000361391.6_Missense_Mutation_p.Q932L|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000531014.1_Missense_Mutation_p.Q630L|CTNND1_ENST00000530748.1_Intron|CTNND1_ENST00000358694.6_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	959					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.Q959L(1)|p.Q932L(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GAGGGGGGCCAAGTGTCTTAC	0.498																																						uc001nmc.3																			2	Substitution - Missense(2)		lung(2)	breast(4)|ovary(1)|kidney(1)	6						c.(2875-2877)CAA>CTA		catenin, delta 1 isoform 1ABC							81.0	85.0	84.0					11																	57583454		1955	4144	6099	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57583454A>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2876A>T	11.37:g.57583454A>T	ENSP00000382004:p.Gln959Leu					CTNND1_uc001nlh.1_Intron|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Missense_Mutation_p.Q831L|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Intron|CTNND1_uc001nmd.3_Missense_Mutation_p.Q905L|CTNND1_uc001nlk.3_Intron|CTNND1_uc001nme.3_Missense_Mutation_p.Q953L|CTNND1_uc001nll.3_Intron|CTNND1_uc001nmg.3_Intron|CTNND1_uc001nlj.3_Missense_Mutation_p.Q899L|CTNND1_uc001nlr.3_Intron|CTNND1_uc001nlp.3_Missense_Mutation_p.Q878L|CTNND1_uc001nlx.3_Missense_Mutation_p.Q636L|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Intron|CTNND1_uc001nly.3_Missense_Mutation_p.Q630L|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Missense_Mutation_p.Q609L|CTNND1_uc001nmi.3_Missense_Mutation_p.Q858L|CTNND1_uc001nmh.3_Intron|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Intron|CTNND1_uc001nli.3_Missense_Mutation_p.Q932L|CTNND1_uc001nlo.3_Missense_Mutation_p.Q852L|CTNND1_uc001nlv.3_Intron	p.Q959L	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			20	3447	+		all_epithelial(135;0.155)	959					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.2876A>T	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701006	0.30142	.	.	ENSG00000198561	ENST00000360682;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532787;ENST00000533667;ENST00000527467;ENST00000531014;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361	T;T;T;T;T;T;T;T;T;T;T;T;T	0.77229	-0.68;-0.19;-0.7;-0.19;-0.6;-1.08;-0.46;-0.46;-0.7;-0.19;-0.19;-0.19;-0.19	6.16	3.82	0.43975	.	0.401969	0.21796	N	0.068997	T	0.58949	0.2158	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.29037	0.231;0.148;0.024;0.068;0.068;0.068	B;B;B;B;B;B	0.24155	0.051;0.023;0.032;0.032;0.032;0.032	T	0.54063	-0.8349	10	0.52906	T	0.07	-4.4876	7.9466	0.29991	0.7938:0.1368:0.0693:0.0	.	953;959;852;879;899;938	O60716-2;O60716;O60716-18;O60716-14;O60716-10;F8WA43	.;CTND1_HUMAN;.;.;.;.	L	938;959;932;953;831;609;636;630;878;905;899;852;858	ENSP00000353902:Q938L;ENSP00000382004:Q959L;ENSP00000354785:Q932L;ENSP00000354823:Q953L;ENSP00000434949:Q831L;ENSP00000437051:Q609L;ENSP00000434900:Q636L;ENSP00000432623:Q630L;ENSP00000435494:Q878L;ENSP00000433276:Q905L;ENSP00000433334:Q899L;ENSP00000437327:Q852L;ENSP00000403518:Q858L	ENSP00000353902:Q938L	Q	+	2	0	CTNND1	57340030	0.614000	0.27017	0.981000	0.43875	0.757000	0.42996	0.922000	0.28734	0.542000	0.28846	0.528000	0.53228	CAA		PASS	0.498	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		8	34	8	34	---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63143203	63143203	+	Missense_Mutation	SNP	G	G	C	rs1801518		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:63143203G>C	ENST00000279178.3	+	5	1166	c.917G>C	c.(916-918)aGt>aCt	p.S306T	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	306					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.S306T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GCACACAGGAGTGGAATGAAG	0.468																																						uc001nww.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)	3						c.(916-918)AGT>ACT		solute carrier family 22 (organic anion/cation							145.0	137.0	139.0					11																	63143203		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63143203G>C	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.917G>C	11.37:g.63143203G>C	ENSP00000279178:p.Ser306Thr					SLC22A9_uc001nwx.2_RNA	p.S306T	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			5	1185	+			306			Cytoplasmic (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.917G>C	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218687	0.39201	.	.	ENSG00000149742	ENST00000279178	T	0.59083	0.29	4.71	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050870	0.85682	D	0.000000	T	0.40347	0.1113	N	0.14661	0.345	0.80722	D	1	B	0.18013	0.025	B	0.28232	0.087	T	0.30679	-0.9970	10	0.87932	D	0	.	8.3641	0.32376	0.9054:0.0:0.0946:0.0	.	306	Q8IVM8	S22A9_HUMAN	T	306	ENSP00000279178:S306T	ENSP00000279178:S306T	S	+	2	0	SLC22A9	62899779	0.995000	0.38212	0.787000	0.31911	0.006000	0.05464	3.248000	0.51430	0.869000	0.35703	-0.504000	0.04507	AGT		PASS	0.468	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		21	141	21	141	---	---	---	---
MARK2	2011	broad.mit.edu	37	11	63666289	63666289	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:63666289G>A	ENST00000509502.2	+	6	822	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	MARK2_ENST00000315032.8_Missense_Mutation_p.R153Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R120Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R120Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R153Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R153Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R153Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R153Q|MARK2_ENST00000377809.4_Missense_Mutation_p.R153Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R153Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R120Q|MARK2_ENST00000402010.2_Missense_Mutation_p.R153Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R120Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.R120Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAGAGGCTCGAGCCAAATTC	0.517																																						uc001nxw.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(457-459)CGA>CAA		MAP/microtubule affinity-regulating kinase 2							49.0	55.0	53.0					11																	63666289		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63666289G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.359G>A	11.37:g.63666289G>A	ENSP00000423974:p.Arg120Gln					MARK2_uc001nxx.2_Missense_Mutation_p.R153Q|MARK2_uc001nxy.2_Missense_Mutation_p.R153Q|MARK2_uc001nxv.3_Missense_Mutation_p.R153Q|MARK2_uc001nxz.3_Missense_Mutation_p.R120Q|MARK2_uc009yoy.2_Missense_Mutation_p.R120Q	p.R153Q	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			6	1037	+			153			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.458G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516981	0.96416	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.37850	1.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.978;0.978;0.917;0.996;0.995;0.999	T	0.33574	-0.9863	10	0.87932	D	0	.	17.4102	0.87482	0.0:0.0:1.0:0.0	.	120;120;153;153;153;153	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	153;153;153;153;120;153;153;153;153;120;120;120;120;120	ENSP00000385751:R153Q;ENSP00000326632:R153Q;ENSP00000367040:R153Q;ENSP00000389184:R153Q;ENSP00000367041:R120Q;ENSP00000425765:R153Q;ENSP00000355091:R153Q;ENSP00000294247:R153Q;ENSP00000444956:R120Q;ENSP00000423974:R120Q;ENSP00000421075:R120Q;ENSP00000386128:R120Q;ENSP00000415494:R120Q	ENSP00000326632:R153Q	R	+	2	0	MARK2	63422865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.550000	0.98110	2.634000	0.89283	0.563000	0.77884	CGA		PASS	0.517	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		5	79	5	79	---	---	---	---
TIGD3	220359	broad.mit.edu	37	11	65124390	65124390	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:65124390C>A	ENST00000309880.5	+	2	1318	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	371						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P371T(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CGGCAAAACGCCCCCGTCCTC	0.637																																						uc001odo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)CCC>ACC		tigger transposable element derived 3							52.0	59.0	57.0					11																	65124390		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124390C>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1111C>A	11.37:g.65124390C>A	ENSP00000308354:p.Pro371Thr						p.P371T	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	1274	+			371						Missense_Mutation	SNP	ENST00000309880.5	37	c.1111C>A	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	C	0.096	-1.160010	0.01686	.	.	ENSG00000173825	ENST00000309880	T	0.16897	2.31	3.42	0.18	0.15068	.	.	.	.	.	T	0.10294	0.0252	L	0.27053	0.805	0.09310	N	1	B	0.27498	0.18	B	0.19391	0.025	T	0.36625	-0.9740	9	0.13470	T	0.59	-0.868	11.0952	0.48141	0.0:0.4317:0.5683:0.0	.	371	Q6B0B8	TIGD3_HUMAN	T	371	ENSP00000308354:P371T	ENSP00000308354:P371T	P	+	1	0	TIGD3	64880966	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.535000	0.06142	-0.040000	0.13580	0.456000	0.33151	CCC		PASS	0.637	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		66	162	66	162	---	---	---	---
BBS1	582	broad.mit.edu	37	11	66287220	66287220	+	Splice_Site	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:66287220G>A	ENST00000318312.7	+	8	774		c.e8+1		BBS1_ENST00000393994.2_Splice_Site|BBS1_ENST00000537537.1_Splice_Site|BBS1_ENST00000529766.1_Splice_Site|BBS1_ENST00000455748.2_Intron|CTD-3074O7.11_ENST00000419755.3_Splice_Site	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1						cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TTTAGCCAAGGTCAGCGTCAG	0.572									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	uc001oij.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e8+1		Bardet-Biedl syndrome 1							62.0	52.0	56.0					11																	66287220		2200	4295	6495	SO:0001630	splice_region_variant	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66287220G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.723+1G>A	11.37:g.66287220G>A						BBS1_uc001oii.1_Splice_Site_p.K278_splice|BBS1_uc010rpf.1_Splice_Site|BBS1_uc010rpg.1_Intron|BBS1_uc001oik.1_Splice_Site_p.K165_splice|BBS1_uc001oil.1_Splice_Site_p.K241_splice	p.K241_splice	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			8	735	+								Q32MM9|Q32MN0|Q96SN4	Splice_Site	SNP	ENST00000318312.7	37	c.723_splice	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081417	0.76528	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000537537;ENST00000525809;ENST00000393994	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1119	0.86678	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBS1;CTD-3074O7.11	66043796	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	8.538000	0.90634	2.659000	0.90383	0.549000	0.68633	.		PASS	0.572	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2		Intron	13	67	13	67	---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71942192	71942192	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:71942192C>T	ENST00000298229.2	+	12	1660	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	INPPL1_ENST00000538751.1_Missense_Mutation_p.R244C|INPPL1_ENST00000541756.1_Missense_Mutation_p.R244C	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	486					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.R486C(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGACCTACTGCGCGGGGGCCT	0.602																																						uc001osf.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1456-1458)CGC>TGC		inositol polyphosphate phosphatase-like 1							119.0	129.0	125.0					11																	71942192		2198	4293	6491	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71942192C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1456C>T	11.37:g.71942192C>T	ENSP00000298229:p.Arg486Cys					INPPL1_uc001osg.2_Missense_Mutation_p.R244C	p.R486C	NM_001567	NP_001558	O15357	SHIP2_HUMAN			12	1603	+			486					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1456C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.501201	0.85176	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.81247	-1.47;-1.47;-1.47	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91566	0.7336	M	0.88377	2.95	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.92504	0.6011	10	0.87932	D	0	.	18.6606	0.91470	0.0:1.0:0.0:0.0	.	486	O15357	SHIP2_HUMAN	C	486;244;244	ENSP00000298229:R486C;ENSP00000446360:R244C;ENSP00000444619:R244C	ENSP00000298229:R486C	R	+	1	0	INPPL1	71619840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.584000	0.60971	2.746000	0.94184	0.655000	0.94253	CGC		PASS	0.602	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		11	352	11	352	---	---	---	---
ATG16L2	89849	broad.mit.edu	37	11	72539536	72539536	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:72539536C>G	ENST00000321297.5	+	15	1743	c.1605C>G	c.(1603-1605)aaC>aaG	p.N535K	ATG16L2_ENST00000534905.1_Missense_Mutation_p.H151D	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	535					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N535K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGTCAGCAACATCCGCCAGG	0.597																																						uc001otd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1603-1605)AAC>AAG		ATG16 autophagy related 16-like 2							119.0	102.0	108.0					11																	72539536		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72539536C>G	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1605C>G	11.37:g.72539536C>G	ENSP00000326340:p.Asn535Lys					ATG16L2_uc001ote.2_Missense_Mutation_p.N429K|ATG16L2_uc009ytj.1_Missense_Mutation_p.H151D|ATG16L2_uc001otf.2_Missense_Mutation_p.N290K|ATG16L2_uc001otg.2_Missense_Mutation_p.N269K|ATG16L2_uc009ytk.2_Missense_Mutation_p.N290K	p.N535K	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		15	1645	+			535			WD 5.		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1605C>G	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.14|11.14	1.551189|1.551189	0.27739|0.27739	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000534905;ENST00000540222|ENST00000321297;ENST00000538973;ENST00000541367	.|T;T;T	.|0.81247	.|-1.47;-1.47;-1.47	5.17|5.17	-1.14|-1.14	0.09741|0.09741	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.239081	.|0.38436	.|N	.|0.001683	T|T	0.61400|0.61400	0.2344|0.2344	N|N	0.04203|0.04203	-0.255|-0.255	0.21064|0.21064	N|N	0.999791|0.999791	P|P;B	0.35575|0.51537	0.51|0.946;0.125	B|P;B	0.35353|0.50314	0.201|0.637;0.053	T|T	0.63743|0.63743	-0.6568|-0.6568	8|10	0.56958|0.06625	D|T	0.05|0.88	.|.	11.6201|11.6201	0.51113|0.51113	0.0:0.7516:0.0:0.2484|0.0:0.7516:0.0:0.2484	.|.	151|429;535	F5GWZ9|Q8NAA4-2;Q8NAA4	.|.;A16L2_HUMAN	D|K	151;313|535;366;366	.|ENSP00000326340:N535K;ENSP00000441989:N366K;ENSP00000437412:N366K	ENSP00000441189:H151D|ENSP00000326340:N535K	H|N	+|+	1|3	0|2	ATG16L2|ATG16L2	72217184|72217184	0.011000|0.011000	0.17503|0.17503	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	-1.502000|-1.502000	0.02279|0.02279	-0.043000|-0.043000	0.13513|0.13513	0.455000|0.455000	0.32223|0.32223	CAT|AAC		PASS	0.597	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		30	165	30	165	---	---	---	---
DDIAS	220042	broad.mit.edu	37	11	82644184	82644184	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:82644184G>A	ENST00000533655.1	+	6	2016	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	C11orf82_ENST00000329143.3_Missense_Mutation_p.D301N|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.D602N|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		602					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D602N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GAAGTATAATGATGTCTCTGA	0.308																																						uc001ozt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1804-1806)GAT>AAT		nitric oxide-inducible gene protein							59.0	62.0	61.0					11																	82644184		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644184G>A																												ENST00000533655.1:c.1804G>A	11.37:g.82644184G>A	ENSP00000435421:p.Asp602Asn					C11orf82_uc010rsr.1_Missense_Mutation_p.D301N|C11orf82_uc010rss.1_Missense_Mutation_p.D301N|C11orf82_uc009yvd.2_Intron	p.D602N	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	2048	+			602					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.1804G>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.312391	0.01331	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.20069	2.38;2.38;2.1	5.85	2.84	0.33178	.	0.485392	0.19540	N	0.111838	T	0.08403	0.0209	N	0.05383	-0.06	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.31641	-0.9936	9	.	.	.	.	4.182	0.10380	0.2998:0.1681:0.532:0.0	.	602	Q8IXT1	NOXIN_HUMAN	N	602;602;301	ENSP00000414687:D602N;ENSP00000435421:D602N;ENSP00000329930:D301N	.	D	+	1	0	C11orf82	82321832	0.003000	0.15002	0.034000	0.17996	0.008000	0.06430	0.533000	0.23082	0.835000	0.34877	-0.140000	0.14226	GAT		PASS	0.308	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			28	80	28	80	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93806196	93806196	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:93806196C>G	ENST00000315765.9	+	7	1246	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	413	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.S414C(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)				TTCAGTGACTCTGATCTCTAC	0.358																																						uc001pep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1237-1239)TCT>TGT		hephaestin-like 1 precursor							66.0	62.0	64.0					11																	93806196		1880	4108	5988	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93806196C>G	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.1238C>G	11.37:g.93806196C>G	ENSP00000313699:p.Ser413Cys					uc001pen.1_Intron	p.S413C	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			7	1395	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	413			Plastocyanin-like 3.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1238C>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448868	0.84101	.	.	ENSG00000181333	ENST00000315765	D	0.99051	-5.37	5.66	5.66	0.87406	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	M	0.87097	2.86	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.99133	1.0853	10	0.87932	D	0	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	413	Q6MZM0	HPHL1_HUMAN	C	413	ENSP00000313699:S413C	ENSP00000313699:S413C	S	+	2	0	HEPHL1	93445844	1.000000	0.71417	0.963000	0.40424	0.920000	0.55202	7.078000	0.76821	2.671000	0.90904	0.650000	0.86243	TCT		PASS	0.358	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		20	35	20	35	---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102449824	102449824	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:102449824C>T	ENST00000260228.2	-	9	1309	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	455					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E433K(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	AATTCTTCTTCAGTATTCTTT	0.308																																						uc001phc.2																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(1297-1299)GAA>AAA		matrix metalloproteinase 20 preproprotein							192.0	180.0	184.0					11																	102449824		2202	4297	6499	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102449824C>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.1297G>A	11.37:g.102449824C>T	ENSP00000260228:p.Glu433Lys						p.E433K	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	9	1310	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	433			Hemopexin-like 3.		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.1297G>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663745	0.47572	.	.	ENSG00000137674	ENST00000260228	T	0.02301	4.35	4.95	4.95	0.65309	Hemopexin/matrixin (2);	0.263425	0.43416	D	0.000562	T	0.02494	0.0076	N	0.21617	0.685	0.43047	D	0.994644	B	0.22480	0.07	B	0.22152	0.038	T	0.60586	-0.7234	10	0.29301	T	0.29	.	17.105	0.86660	0.0:1.0:0.0:0.0	.	433	O60882	MMP20_HUMAN	K	433	ENSP00000260228:E433K	ENSP00000260228:E433K	E	-	1	0	MMP20	101955034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.921000	0.63397	2.555000	0.86185	0.655000	0.94253	GAA		PASS	0.308	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			24	665	24	665	---	---	---	---
CLDN25	644672	broad.mit.edu	37	11	113650528	113650528	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:113650528G>A	ENST00000453129.2	+	1	60	c.11G>A	c.(10-12)aGt>aAt	p.S4N		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.S4N(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						ATGGCCTGGAGTTTCCGTGCA	0.547																																						uc009yyw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)AGT>AAT		claudin 25							78.0	83.0	81.0					11																	113650528		1995	4174	6169	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650528G>A		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.11G>A	11.37:g.113650528G>A	ENSP00000396304:p.Ser4Asn						p.S4N	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	11	+			4			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000453129.2	37	c.11G>A	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586680	0.28268	.	.	ENSG00000228607	ENST00000453129	T	0.62498	0.02	5.04	1.83	0.25207	.	.	.	.	.	T	0.44973	0.1319	L	0.51422	1.61	0.09310	N	0.999996	P	0.42941	0.794	B	0.32762	0.152	T	0.22661	-1.0210	9	0.15066	T	0.55	.	6.6677	0.23050	0.178:0.1523:0.6697:0.0	.	4	C9JDP6	CLD25_HUMAN	N	4	ENSP00000396304:S4N	ENSP00000396304:S4N	S	+	2	0	CLDN25	113155738	0.078000	0.21339	0.703000	0.30354	0.375000	0.29983	0.321000	0.19558	0.673000	0.31224	0.655000	0.94253	AGT		PASS	0.547	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		61	119	61	119	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117303185	117303185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr11:117303185C>A	ENST00000321322.6	-	30	5243	c.5242G>T	c.(5242-5244)Gag>Tag	p.E1748*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E1478*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1688					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E1748*(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGCTGAACTCAGCATCTGTC	0.502																																						uc001prh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5242-5244)GAG>TAG		Down syndrome cell adhesion molecule like 1							199.0	152.0	168.0					11																	117303185		2201	4296	6497	SO:0001587	stop_gained	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117303185C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5242G>T	11.37:g.117303185C>A	ENSP00000315465:p.Glu1748*						p.E1748*	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	30	5244	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1688			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Nonsense_Mutation	SNP	ENST00000321322.6	37	c.5242G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	44	11.028410	0.99505	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.0112	0.97449	0.0:1.0:0.0:0.0	.	.	.	.	X	1478;1748;1455	.	ENSP00000315465:E1748X	E	-	1	0	DSCAML1	116808395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.784000	0.85713	2.826000	0.97356	0.655000	0.94253	GAG		PASS	0.502	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		30	79	30	79	---	---	---	---
ZNF384	171017	broad.mit.edu	37	12	6776898	6776898	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:6776898C>T	ENST00000396801.3	-	11	1923	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	ZNF384_ENST00000396795.1_Silent_p.E511E|ZNF384_ENST00000361959.3_Silent_p.E572E|ZNF384_ENST00000355772.4_Silent_p.E456E|RP4-761J14.8_ENST00000586338.1_RNA|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Silent_p.E495E|ZNF384_ENST00000396799.2_Silent_p.E511E	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	572					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.L68F(2)|p.E511E(1)|p.E572E(1)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TGGCCAGGTGCTCCACCTGGA	0.552			T	"""EWSR1, TAF15 """	ALL																																	uc010sfh.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	EWSR1|TAF15 		ALL	EWSR1/ZNF384(4)	4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						c.(1714-1716)GAG>GAA		nuclear matrix transcription factor 4 isoform d							156.0	156.0	156.0					12																	6776898		2203	4300	6503	SO:0001819	synonymous_variant	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6776898C>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1716G>A	12.37:g.6776898C>T						ZNF384_uc001qpz.2_Silent_p.E511E|ZNF384_uc001qqa.2_Silent_p.E511E|ZNF384_uc001qqb.2_Silent_p.E495E|ZNF384_uc001qqc.2_Silent_p.E511E|ZNF384_uc001qqd.2_Silent_p.E456E|ZNF384_uc001qqe.2_Silent_p.E495E	p.E572E	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN			11	1924	-			572					O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	c.1716G>A	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516269	0.27123	.	.	ENSG00000219410	ENST00000407384	.	.	.	5.83	3.01	0.34805	.	.	.	.	.	T	0.65995	0.2745	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65635	-0.6120	5	0.87932	D	0	-20.9262	9.5888	0.39532	0.0:0.7321:0.0:0.2679	.	.	.	.	F	68	.	ENSP00000384049:L68F	L	+	1	0	AC125494.1	6647159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.471000	0.45127	0.368000	0.24481	0.591000	0.81541	CTC		PASS	0.552	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			46	407	46	407	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7457012	7457012	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:7457012C>A	ENST00000399422.4	+	1	133	c.85C>A	c.(85-87)Ctt>Att	p.L29I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	29					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.L29I(2)		endometrium(6)|kidney(1)|lung(14)	21						AGATCACCAGCTTTGGACGCC	0.473																																						uc001qsx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(85-87)CTT>ATT		acyl-CoA synthetase medium-chain family member 4							158.0	150.0	152.0					12																	7457012		1910	4143	6053	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7457012C>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.85C>A	12.37:g.7457012C>A	ENSP00000382349:p.Leu29Ile						p.L29I	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			1	85	+			29					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.85C>A	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	C	3.917	-0.018973	0.07681	.	.	ENSG00000215009	ENST00000399422	T	0.12255	2.7	4.85	2.83	0.33086	.	.	.	.	.	T	0.08492	0.0211	N	0.14661	0.345	0.26535	N	0.974192	B	0.09022	0.002	B	0.10450	0.005	T	0.29088	-1.0023	9	0.23302	T	0.38	-14.295	11.4107	0.49923	0.3243:0.6757:0.0:0.0	.	29	P0C7M7	ACSM4_HUMAN	I	29	ENSP00000382349:L29I	ENSP00000382349:L29I	L	+	1	0	ACSM4	7348279	0.000000	0.05858	0.179000	0.23059	0.153000	0.21895	-0.129000	0.10515	1.336000	0.45506	0.655000	0.94253	CTT		PASS	0.473	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		157	174	157	174	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9010650	9010650	+	Silent	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:9010650C>G	ENST00000299698.7	+	26	3396	c.3216C>G	c.(3214-3216)ccC>ccG	p.P1072P	A2ML1_ENST00000539547.1_Silent_p.P581P	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.P1072P(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACCAGCTCCCCAGTGGCTGCT	0.522																																						uc001quz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3214-3216)CCC>CCG		alpha-2-macroglobulin-like 1 precursor							70.0	70.0	70.0					12																	9010650		1973	4160	6133	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9010650C>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3216C>G	12.37:g.9010650C>G						A2ML1_uc001qva.1_Silent_p.P652P|A2ML1_uc010sgm.1_Silent_p.P572P	p.P1072P	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			26	3314	+			916						Silent	SNP	ENST00000299698.7	37	c.3216C>G	CCDS8596.2																																																																																				PASS	0.522	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		95	73	95	73	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26868762	26868762	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:26868762C>G	ENST00000381340.3	-	7	1047	c.631G>C	c.(631-633)Gct>Cct	p.A211P		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	211	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.A211P(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CAATTGACAGCATTCACCTAT	0.328																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(631-633)GCT>CCT		inositol 1,4,5-triphosphate receptor, type 2							90.0	87.0	88.0					12																	26868762		1858	4089	5947	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26868762C>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.631G>C	12.37:g.26868762C>G	ENSP00000370744:p.Ala211Pro						p.A211P	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			7	1048	-	Colorectal(261;0.0847)		211			Cytoplasmic (Potential).|MIR 2.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.631G>C	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521698	0.64747	.	.	ENSG00000123104	ENST00000381340	D	0.91180	-2.8	4.57	3.61	0.41365	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);MIR (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.67397	2.05	0.80722	D	1	D	0.63880	0.993	D	0.66847	0.947	D	0.93280	0.6659	10	0.59425	D	0.04	.	12.7713	0.57423	0.2648:0.7352:0.0:0.0	.	211	Q14571	ITPR2_HUMAN	P	211	ENSP00000370744:A211P	ENSP00000370744:A211P	A	-	1	0	ITPR2	26760029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.834000	0.48167	2.526000	0.85167	0.655000	0.94253	GCT		PASS	0.328	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		23	95	23	95	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	44913981	44913981	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:44913981C>A	ENST00000429094.2	-	19	2711	c.2207G>T	c.(2206-2208)tGc>tTc	p.C736F	NELL2_ENST00000549027.1_Missense_Mutation_p.C735F|NELL2_ENST00000333837.4_Missense_Mutation_p.C759F|NELL2_ENST00000452445.2_Missense_Mutation_p.C736F|NELL2_ENST00000551601.1_Missense_Mutation_p.C688F|NELL2_ENST00000437801.2_Missense_Mutation_p.C786F|NELL2_ENST00000395487.2_Missense_Mutation_p.C735F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	736	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.C736F(1)|p.C786F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CACATCTGGGCAAGGCAGGGG	0.557																																						uc001rog.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(2206-2208)TGC>TTC		NEL-like protein 2 isoform b precursor							61.0	51.0	55.0					12																	44913981		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44913981C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2207G>T	12.37:g.44913981C>A	ENSP00000390680:p.Cys736Phe					NELL2_uc001rof.3_Missense_Mutation_p.C735F|NELL2_uc001roh.2_Missense_Mutation_p.C736F|NELL2_uc009zkd.2_Missense_Mutation_p.C688F|NELL2_uc010skz.1_Missense_Mutation_p.C786F|NELL2_uc010sla.1_Missense_Mutation_p.C759F	p.C736F	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	19	2802	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	736			VWFC 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.2207G>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473326	0.84640	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;D;D;D;D;D	0.99474	-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97	5.07	5.07	0.68467	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.999;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.995;0.997;0.999;0.995	D	0.97063	0.9772	10	0.72032	D	0.01	-9.7928	18.4463	0.90685	0.0:1.0:0.0:0.0	.	759;786;688;736;735	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	F	735;736;688;736;735;759;786	ENSP00000378866:C735F;ENSP00000390680:C736F;ENSP00000449332:C688F;ENSP00000394612:C736F;ENSP00000447927:C735F;ENSP00000327988:C759F;ENSP00000416341:C786F	ENSP00000327988:C759F	C	-	2	0	NELL2	43200248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.325000	0.78763	0.650000	0.86243	TGC		PASS	0.557	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		7	46	7	46	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45097609	45097609	+	Silent	SNP	G	G	A	rs370216357		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:45097609G>A	ENST00000429094.2	-	12	1722	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	NELL2_ENST00000549027.1_Silent_p.N405N|NELL2_ENST00000333837.4_Silent_p.N429N|NELL2_ENST00000452445.2_Silent_p.N406N|NELL2_ENST00000551601.1_Silent_p.N405N|NELL2_ENST00000437801.2_Silent_p.N456N|NELL2_ENST00000395487.2_Silent_p.N405N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	406	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.N456N(1)|p.N406N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCTCCATGCAGTTATGCCTTT	0.353																																						uc001rog.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1216-1218)AAC>AAT		NEL-like protein 2 isoform b precursor		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	69.0	66.0	67.0		1368,1218,1215,1287,1218	3.7	1.0	12		67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NELL2	NM_001145107.1,NM_001145108.1,NM_001145109.1,NM_001145110.1,NM_006159.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	456/867,406/817,405/816,429/840,406/817	45097609	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45097609G>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1218C>T	12.37:g.45097609G>A						NELL2_uc001rof.3_Silent_p.N405N|NELL2_uc001roh.2_Silent_p.N406N|NELL2_uc009zkd.2_Silent_p.N405N|NELL2_uc010skz.1_Silent_p.N456N|NELL2_uc010sla.1_Silent_p.N429N|NELL2_uc001roi.1_Silent_p.N406N|NELL2_uc010slb.1_Silent_p.N405N|NELL2_uc001roj.2_Silent_p.N406N	p.N406N	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	12	1813	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	406			EGF-like 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1218C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	7.901	0.734488	0.15574	2.27E-4	0.0	ENSG00000184613	ENST00000550313	.	.	.	5.6	3.65	0.41850	.	.	.	.	.	T	0.69360	0.3102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69224	-0.5201	4	.	.	.	-13.1567	14.0971	0.65029	0.0:0.0:0.6222:0.3778	.	.	.	.	I	150	.	.	T	-	2	0	NELL2	43383876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.617000	0.46385	1.342000	0.45619	0.650000	0.86243	ACT		PASS	0.353	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		42	74	42	74	---	---	---	---
VDR	7421	broad.mit.edu	37	12	48238763	48238763	+	Silent	SNP	C	C	T	rs4987032		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:48238763C>T	ENST00000395324.2	-	10	1318	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A	VDR_ENST00000535672.1_Silent_p.A318A|VDR_ENST00000229022.3_Silent_p.A350A|VDR_ENST00000549336.1_Silent_p.A350A|VDR_ENST00000550325.1_Silent_p.A400A			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	350	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A350A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCTCAATCAGCGCGGCGTCCT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		16675	0.0		0.001	False		,,,				2504	0.0					uc001rqm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1048-1050)GCG>GCA		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						100.0	106.0	104.0					12																	48238763		2203	4300	6503	SO:0001819	synonymous_variant	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48238763C>T	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1050G>A	12.37:g.48238763C>T						VDR_uc001rql.2_Silent_p.A400A|VDR_uc001rqn.2_Silent_p.A350A|VDR_uc010slq.1_Silent_p.A318A	p.A350A	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	11	1332	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	350			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	c.1050G>A	CCDS8757.1																																																																																				PASS	0.652	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			20	125	20	125	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48371186	48371186	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:48371186C>A	ENST00000380518.3	-	46	3354	c.3190G>T	c.(3190-3192)Gtg>Ttg	p.V1064L	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.V995L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1064	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.V1064L(1)|p.V995L(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)	GGAGCTCCCACAGCACCAGTC	0.582																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3190-3192)GTG>TTG		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						49.0	57.0	54.0					12																	48371186		2203	4299	6502	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48371186C>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.3190G>T	12.37:g.48371186C>A	ENSP00000369889:p.Val1064Leu					COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.V995L	p.V1064L	NM_001844	NP_001835	P02458	CO2A1_HUMAN			46	3371	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1064			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	Missense_Mutation	SNP	ENST00000380518.3	37	c.3190G>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900743	0.33535	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93247	-3.19;-3.19	5.15	-7.59	0.01308	.	1.035500	0.07645	N	0.931035	D	0.85261	0.5656	N	0.17764	0.52	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68868	-0.5295	10	0.20519	T	0.43	.	14.7085	0.69208	0.2445:0.1592:0.5963:0.0	.	995;1064	P02458-1;P02458	.;CO2A1_HUMAN	L	1064;995;995	ENSP00000369889:V1064L;ENSP00000338213:V995L	ENSP00000338213:V995L	V	-	1	0	COL2A1	46657453	0.000000	0.05858	0.003000	0.11579	0.601000	0.36947	-0.197000	0.09518	-2.140000	0.00806	-0.457000	0.05445	GTG		PASS	0.582	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		14	34	14	34	---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49230390	49230390	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:49230390G>A	ENST00000308025.3	-	10	1277	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	400					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.P400S(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						AAGATGTGTGGGGGCAGAGAA	0.512																																						uc001rsm.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(1198-1200)CCA>TCA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							134.0	116.0	122.0					12																	49230390		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230390G>A	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1198C>T	12.37:g.49230390G>A	ENSP00000310723:p.Pro400Ser						p.P400S	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			10	1289	-			400			Q motif.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1198C>T	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969919	0.34754	.	.	ENSG00000174243	ENST00000308025	T	0.21031	2.03	5.82	5.82	0.92795	RNA helicase, DEAD-box type, Q motif (1);	0.189082	0.44285	D	0.000472	T	0.14442	0.0349	N	0.17082	0.46	0.52099	D	0.999948	B	0.15141	0.012	B	0.08055	0.003	T	0.11743	-1.0575	10	0.09843	T	0.71	-8.3028	18.8567	0.92255	0.0:0.0:1.0:0.0	.	400	Q9BUQ8	DDX23_HUMAN	S	400	ENSP00000310723:P400S	ENSP00000310723:P400S	P	-	1	0	DDX23	47516657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.248000	0.72418	2.756000	0.94617	0.561000	0.74099	CCA		PASS	0.512	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		35	204	35	204	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431142	49431142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:49431142G>A	ENST00000301067.7	-	34	9996	c.9997C>T	c.(9997-9999)Cag>Tag	p.Q3333*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3333	Gln-rich.				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.Q3333*(2)|p.Q3063*(2)									GCTGGTGGCTGGGTGGGCATC	0.617																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		4	Substitution - Nonsense(4)		haematopoietic_and_lymphoid_tissue(2)|lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(9997-9999)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							22.0	26.0	25.0					12																	49431142		2116	4234	6350	SO:0001587	stop_gained	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.chr12:49431142G>A	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.9997C>T	12.37:g.49431142G>A	ENSP00000301067:p.Gln3333*	HNSCC(34;0.089)					p.Q3333*	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	9997	-			3333			Gln-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.9997C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	50	17.269113	0.99882	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.49	5.49	0.81192	.	0.000000	0.36409	N	0.002604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.1858	0.65605	0.0:0.15:0.85:0.0	.	.	.	.	X	3333	.	ENSP00000301067:Q3333X	Q	-	1	0	MLL2	47717409	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.739000	0.62080	2.767000	0.95098	0.655000	0.94253	CAG		PASS	0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	15	12	15	---	---	---	---
TUBA1A	7846	broad.mit.edu	37	12	49579509	49579509	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:49579509G>A	ENST00000295766.5	-	4	1119	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	TUBA1A_ENST00000550767.1_Missense_Mutation_p.R179C|TUBA1A_ENST00000301071.7_Missense_Mutation_p.R214C|TUBA1A_ENST00000546918.1_3'UTR	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	214					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R214C(1)		stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	AGGTTTCTACGACAGATGTCA	0.473																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	uc009zlf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)CGT>TGT		tubulin, alpha 1a							108.0	100.0	103.0					12																	49579509		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579509G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.640C>T	12.37:g.49579509G>A	ENSP00000439020:p.Arg214Cys					TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.R214C|TUBA1A_uc001rtq.2_Missense_Mutation_p.R61C|TUBA1A_uc001rtr.2_Missense_Mutation_p.R61C|TUBA1A_uc009zlg.2_Missense_Mutation_p.R61C	p.R214C	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN			4	912	-			214					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.640C>T	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836809	0.50951	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767;ENST00000547939	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.25	5.25	0.73442	Tubulin/FtsZ, GTPase domain (4);	0.072596	0.56097	D	0.000037	D	0.83843	0.5342	M	0.81497	2.545	0.80722	D	1	D	0.62365	0.991	P	0.62813	0.907	D	0.86039	0.1518	10	0.66056	D	0.02	.	17.6261	0.88095	0.0:0.0:1.0:0.0	.	214	Q71U36	TBA1A_HUMAN	C	214;61;214;179;179	ENSP00000301071:R214C;ENSP00000439020:R214C;ENSP00000446637:R179C;ENSP00000450268:R179C	ENSP00000439020:R214C	R	-	1	0	TUBA1A	47865776	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.007000	0.70731	2.443000	0.82685	0.462000	0.41574	CGT		PASS	0.473	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		65	161	65	161	---	---	---	---
SPATS2	65244	broad.mit.edu	37	12	49918540	49918540	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:49918540G>C	ENST00000553127.1	+	14	1700	c.1187G>C	c.(1186-1188)aGt>aCt	p.S396T	SPATS2_ENST00000552918.1_Missense_Mutation_p.S396T|SPATS2_ENST00000321898.6_Missense_Mutation_p.S396T			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	396	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S396T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTAGCCCAAGTGATGCCTCT	0.478																																						uc001rud.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1186-1188)AGT>ACT		spermatogenesis associated, serine-rich 2							204.0	186.0	192.0					12																	49918540		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49918540G>C	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1187G>C	12.37:g.49918540G>C	ENSP00000448228:p.Ser396Thr					SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.S396T|SPATS2_uc001ruf.2_Missense_Mutation_p.S396T|SPATS2_uc001rug.2_Missense_Mutation_p.S396T	p.S396T	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN			13	2176	+			396			Ser-rich.		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.1187G>C	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686596	0.29962	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.51	5.51	0.81932	.	0.175449	0.39341	N	0.001391	T	0.41719	0.1171	L	0.27053	0.805	0.80722	D	1	B	0.27559	0.181	B	0.24155	0.051	T	0.34750	-0.9816	9	0.02654	T	1	-6.5108	17.2944	0.87166	0.0:0.0:1.0:0.0	.	396	Q86XZ4	SPAS2_HUMAN	T	396	.	ENSP00000326841:S396T	S	+	2	0	SPATS2	48204807	1.000000	0.71417	0.385000	0.26158	0.931000	0.56810	3.336000	0.52113	2.763000	0.94921	0.563000	0.77884	AGT		PASS	0.478	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		34	216	34	216	---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49958314	49958314	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:49958314C>A	ENST00000550165.1	-	7	773	c.507G>T	c.(505-507)cgG>cgT	p.R169R	MCRS1_ENST00000343810.4_Silent_p.R169R|MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000547182.1_5'Flank|MCRS1_ENST00000357123.4_Silent_p.R182R			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	169					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R182R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CCTGGACCTCCCGAAGGGTGA	0.597																																						uc001ruk.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(505-507)CGG>CGT		microspherule protein 1 isoform 1							45.0	40.0	42.0					12																	49958314		2203	4300	6503	SO:0001819	synonymous_variant	10445				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49958314C>A	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.507G>T	12.37:g.49958314C>A						MCRS1_uc001rui.1_Silent_p.R182R|MCRS1_uc001ruj.1_Silent_p.R156R|MCRS1_uc001rul.1_Silent_p.R169R|MCRS1_uc009zlj.1_5'UTR|MCRS1_uc001rum.1_Silent_p.R156R|MCRS1_uc001run.1_Silent_p.R169R	p.R169R	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN			6	698	-			169					O14742|O75497|Q6VN53|Q7Z372	Silent	SNP	ENST00000550165.1	37	c.507G>T	CCDS8787.1																																																																																				PASS	0.597	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		9	30	9	30	---	---	---	---
ANKRD52	283373	broad.mit.edu	37	12	56648716	56648716	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:56648716G>T	ENST00000267116.7	-	6	604	c.483C>A	c.(481-483)aaC>aaA	p.N161K		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	161								p.N161K(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TGGCTCCCTTGTTGAGGAGCA	0.498																																						uc001skm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(481-483)AAC>AAA		ankyrin repeat domain 52							71.0	71.0	71.0					12																	56648716		1925	4136	6061	SO:0001583	missense	283373						protein binding	g.chr12:56648716G>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.483C>A	12.37:g.56648716G>T	ENSP00000267116:p.Asn161Lys					ANKRD52_uc001skn.1_RNA	p.N161K	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			6	573	-			161			ANK 5.		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.483C>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203828	0.38905	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.63417	-0.04	4.75	0.0518	0.14299	Ankyrin repeat-containing domain (4);	0.048412	0.85682	D	0.000000	T	0.39226	0.1070	N	0.15975	0.35	0.50632	D	0.999884	B	0.13594	0.008	B	0.19666	0.026	T	0.06826	-1.0805	10	0.21014	T	0.42	.	9.9272	0.41501	0.3535:0.0:0.6465:0.0	.	161	Q8NB46	ANR52_HUMAN	K	161	ENSP00000267116:N161K	ENSP00000267116:N161K	N	-	3	2	ANKRD52	54934983	0.809000	0.29036	0.994000	0.49952	0.995000	0.86356	0.230000	0.17852	-0.079000	0.12707	0.655000	0.94253	AAC		PASS	0.498	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		15	124	15	124	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71050497	71050497	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:71050497G>T	ENST00000283228.2	-	13	2319	c.1867C>A	c.(1867-1869)Ctt>Att	p.L623I	PTPRR_ENST00000378778.1_Missense_Mutation_p.L417I|PTPRR_ENST00000440835.2_Missense_Mutation_p.L378I|PTPRR_ENST00000549308.1_Missense_Mutation_p.L378I|PTPRR_ENST00000342084.4_Missense_Mutation_p.L511I|PTPRR_ENST00000537619.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	623	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L623I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCATACGAAGCTGGCAGACA	0.458																																						uc001swi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1867-1869)CTT>ATT		protein tyrosine phosphatase, receptor type, R							201.0	155.0	170.0					12																	71050497		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71050497G>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1867C>A	12.37:g.71050497G>T	ENSP00000283228:p.Leu623Ile					PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Missense_Mutation_p.L378I|PTPRR_uc009zrs.2_Missense_Mutation_p.L472I|PTPRR_uc010stq.1_Missense_Mutation_p.L511I	p.L623I	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	13	2283	-			623			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1867C>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051210	0.75960	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.43747	D	0.000521	D	0.90123	0.6914	L	0.56124	1.755	0.58432	D	0.999997	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.91635	0.998;0.998;0.999	D	0.90015	0.4124	10	0.52906	T	0.07	-14.1544	14.6133	0.68531	0.0722:0.0:0.9278:0.0	.	511;417;623	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	I	378;623;417;511;378	ENSP00000391750:L378I;ENSP00000283228:L623I;ENSP00000368054:L417I;ENSP00000339605:L511I;ENSP00000446943:L378I	ENSP00000283228:L623I	L	-	1	0	PTPRR	69336764	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.099000	0.64554	2.573000	0.86826	0.655000	0.94253	CTT		PASS	0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		45	212	45	212	---	---	---	---
RAB21	23011	broad.mit.edu	37	12	72176356	72176356	+	Silent	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:72176356A>T	ENST00000261263.3	+	6	709	c.453A>T	c.(451-453)gcA>gcT	p.A151A		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	151					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A151A(1)		large_intestine(1)|lung(4)|prostate(1)	6						TAAGGTATGCAGAATCTGTGG	0.299																																						uc001swt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)GCA>GCT		RAB21, member RAS oncogene family							107.0	109.0	108.0					12																	72176356		2203	4295	6498	SO:0001819	synonymous_variant	23011				protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:72176356A>T	AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.453A>T	12.37:g.72176356A>T							p.A151A	NM_014999	NP_055814	Q9UL25	RAB21_HUMAN			6	705	+			151					Q14466|Q569H3	Silent	SNP	ENST00000261263.3	37	c.453A>T	CCDS9003.1																																																																																				PASS	0.299	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1			27	73	27	73	---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72332809	72332809	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:72332809C>T	ENST00000333850.3	+	1	184	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	15					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.R15W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ATACTGGGCACGGAGAGGGTT	0.498											OREG0021996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009zrw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(43-45)CGG>TGG		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						132.0	116.0	121.0					12																	72332809		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72332809C>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.43C>T	12.37:g.72332809C>T	ENSP00000329093:p.Arg15Trp		OREG0021996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1136	TPH2_uc001swy.2_5'Flank	p.R15W	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			1	184	+			15					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.43C>T	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215270	0.58452	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99660	-6.32	5.45	4.31	0.51392	.	0.052430	0.64402	D	0.000001	D	0.97804	0.9279	L	0.32530	0.975	0.51482	D	0.999928	P	0.50617	0.937	B	0.37422	0.249	D	0.96436	0.9323	10	0.87932	D	0	-12.3487	11.2951	0.49274	0.6852:0.3148:0.0:0.0	.	15	Q8IWU9	TPH2_HUMAN	W	15	ENSP00000329093:R15W	ENSP00000266669:R15W	R	+	1	2	TPH2	70619076	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.374000	0.44274	0.914000	0.36822	-0.265000	0.10407	CGG		PASS	0.498	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		18	126	18	126	---	---	---	---
DUSP6	1848	broad.mit.edu	37	12	89745570	89745570	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:89745570G>A	ENST00000279488.7	-	1	1478	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	DUSP6_ENST00000308385.6_Missense_Mutation_p.R83W|DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000547140.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	83	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.R83W(1)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						AAGCGGTCCCGGTCCTCGCCG	0.682																																					Colon(132;3456 5224)	uc001tay.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)CGG>TGG		dual specificity phosphatase 6 isoform a							13.0	13.0	13.0					12																	89745570		2183	4276	6459	SO:0001583	missense	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745570G>A	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.247C>T	12.37:g.89745570G>A	ENSP00000279488:p.Arg83Trp					DUSP6_uc001taz.2_Missense_Mutation_p.R83W	p.R83W	NM_001946	NP_001937	Q16828	DUS6_HUMAN			1	727	-			83			Rhodanese.		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	c.247C>T	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134784	0.77662	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000548755	T;T;T	0.26518	1.73;1.73;1.73	5.24	5.24	0.73138	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.975	T	0.44019	-0.9355	10	0.72032	D	0.01	.	15.4079	0.74893	0.0:0.0:0.8607:0.1393	.	83;83	Q16828-2;Q16828	.;DUS6_HUMAN	W	83	ENSP00000279488:R83W;ENSP00000307835:R83W;ENSP00000446858:R83W	ENSP00000279488:R83W	R	-	1	2	DUSP6	88269701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.409000	0.44583	2.723000	0.93209	0.655000	0.94253	CGG		PASS	0.682	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		8	13	8	13	---	---	---	---
KERA	11081	broad.mit.edu	37	12	91449570	91449570	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:91449570G>A	ENST00000266719.3	-	2	736	c.489C>T	c.(487-489)agC>agT	p.S163S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	163					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.S163S(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TCTCCAGATTGCTAAAGGTCC	0.403																																						uc001tbl.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(487-489)AGC>AGT		keratocan precursor							112.0	108.0	110.0					12																	91449570		2203	4299	6502	SO:0001819	synonymous_variant	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449570G>A	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.489C>T	12.37:g.91449570G>A							p.S163S	NM_007035	NP_008966	O60938	KERA_HUMAN			2	1108	-			163			LRR 4.			Silent	SNP	ENST00000266719.3	37	c.489C>T	CCDS9037.1																																																																																				PASS	0.403	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		53	296	53	296	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100453798	100453798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:100453798G>A	ENST00000279907.7	-	13	1785	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.Q175*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	525								p.Q525*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GCATTCAGCTGGCTATAGAGG	0.343																																						uc001tgq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1573-1575)CAG>TAG		UHRF1 (ICBP90) binding protein 1-like isoform a							61.0	60.0	60.0					12																	100453798		2203	4300	6503	SO:0001587	stop_gained	23074							g.chr12:100453798G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1573C>T	12.37:g.100453798G>A	ENSP00000279907:p.Gln525*					UHRF1BP1L_uc001tgp.2_Nonsense_Mutation_p.Q175*	p.Q525*	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			13	1802	-			525					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	ENST00000279907.7	37	c.1573C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	37	6.195254	0.97367	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.0256	18.6795	0.91541	0.0:0.0:1.0:0.0	.	.	.	.	X	525;175	.	ENSP00000279907:Q525X	Q	-	1	0	UHRF1BP1L	98977929	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.414000	0.81942	0.585000	0.79938	CAG		PASS	0.343	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		30	82	30	82	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112191650	112191650	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:112191650C>T	ENST00000313698.4	+	19	3047	c.2892C>T	c.(2890-2892)cgC>cgT	p.R964R	RP11-162P23.2_ENST00000546840.2_5'Flank|ACAD10_ENST00000455480.2_Silent_p.R995R	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	964						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R964R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CGCAGTCGCGCGTGGAGATTG	0.657											OREG0022130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tsq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2890-2892)CGC>CGT		acyl-Coenzyme A dehydrogenase family, member 10							49.0	43.0	45.0					12																	112191650		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112191650C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2892C>T	12.37:g.112191650C>T			OREG0022130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1440	ACAD10_uc009zvx.2_Silent_p.R995R|ACAD10_uc001tss.1_Intron	p.R964R	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			19	3092	+			964					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.2892C>T	CCDS31903.1																																																																																				PASS	0.657	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		18	40	18	40	---	---	---	---
BCL7A	605	broad.mit.edu	37	12	122481907	122481907	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:122481907G>T	ENST00000261822.4	+	4	593	c.387G>T	c.(385-387)gaG>gaT	p.E129D	BCL7A_ENST00000538010.1_Missense_Mutation_p.E129D	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	129					negative regulation of transcription, DNA-templated (GO:0045892)			p.E129D(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ACGGCACCGAGGCCAAGGTGG	0.647			T	MYC	BNHL																																GBM(17;197 467 16477 23242 44349)	uc001ubp.2				Dom	yes		12	12q24.1	605	T	B-cell CLL/lymphoma 7A			L	MYC		BNHL		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(385-387)GAG>GAT		B-cell CLL/lymphoma 7A isoform b							108.0	92.0	97.0					12																	122481907		2203	4300	6503	SO:0001583	missense	605				negative regulation of transcription, DNA-dependent			g.chr12:122481907G>T	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.387G>T	12.37:g.122481907G>T	ENSP00000261822:p.Glu129Asp					BCL7A_uc001ubo.2_Missense_Mutation_p.E129D	p.E129D	NM_001024808	NP_001019979	Q4VC05	BCL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)	4	524	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		129					B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	c.387G>T	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	G	3.235	-0.156703	0.06544	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.46063	0.88;0.88	5.54	-5.04	0.02964	.	0.309875	0.39020	N	0.001490	T	0.15652	0.0377	N	0.19112	0.55	0.28358	N	0.920595	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.32693	-0.9897	10	0.07813	T	0.8	.	3.4939	0.07648	0.2916:0.2444:0.3698:0.0943	.	129;129	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	D	129	ENSP00000445868:E129D;ENSP00000261822:E129D	ENSP00000261822:E129D	E	+	3	2	BCL7A	120966290	0.354000	0.24912	0.015000	0.15790	0.108000	0.19459	-0.270000	0.08584	-1.291000	0.02368	-0.355000	0.07637	GAG		PASS	0.647	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			25	136	25	136	---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123089137	123089137	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:123089137T>C	ENST00000333479.7	+	49	5305	c.5128T>C	c.(5128-5130)Ttc>Ctc	p.F1710L	KNTC1_ENST00000537348.1_Missense_Mutation_p.F135L|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1710					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.F1710L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGCTTTGAAATTCTGCCTTTA	0.318																																						uc001ucv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(5128-5130)TTC>CTC		Rough Deal homolog, centromere/kinetochore							76.0	66.0	70.0					12																	123089137		1804	4061	5865	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123089137T>C		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5128T>C	12.37:g.123089137T>C	ENSP00000328236:p.Phe1710Leu					KNTC1_uc010taf.1_Intron	p.F1710L	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	49	5291	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1710					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.5128T>C	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446990	0.63178	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.32023	1.47;1.47	5.26	4.07	0.47477	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.048646	0.85682	D	0.000000	T	0.47210	0.1433	M	0.67953	2.075	0.43211	D	0.995077	D	0.69078	0.997	D	0.67725	0.953	T	0.33854	-0.9852	10	0.24483	T	0.36	-13.0875	10.0201	0.42037	0.0:0.0:0.1699:0.8301	.	1710	P50748	KNTC1_HUMAN	L	1710;135	ENSP00000328236:F1710L;ENSP00000443622:F135L	ENSP00000328236:F1710L	F	+	1	0	KNTC1	121655090	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	1.757000	0.38400	0.779000	0.33543	0.438000	0.28831	TTC		PASS	0.318	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			16	54	16	54	---	---	---	---
SLC15A4	121260	broad.mit.edu	37	12	129285415	129285415	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:129285415G>C	ENST00000266771.5	-	6	1437	c.1398C>G	c.(1396-1398)atC>atG	p.I466M	SLC15A4_ENST00000545031.1_De_novo_Start_InFrame|SLC15A4_ENST00000544112.1_Missense_Mutation_p.I129M	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	466					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.I466M(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)		TACTTGCAAAGATCTCGCTGA	0.542																																						uc001uhu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1396-1398)ATC>ATG		solute carrier family 15, member 4							89.0	80.0	83.0					12																	129285415		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129285415G>C	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.1398C>G	12.37:g.129285415G>C	ENSP00000266771:p.Ile466Met					SLC15A4_uc001uhv.2_RNA	p.I466M	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)	6	1451	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		466			Helical; (Potential).		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.1398C>G	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019249	0.35606	.	.	ENSG00000139370	ENST00000266771;ENST00000544112	T;T	0.58940	0.3;0.3	5.5	-11.0	0.00169	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	L	0.58925	1.835	0.48135	D	0.999593	P	0.45986	0.87	P	0.47915	0.561	T	0.78411	-0.2214	10	0.72032	D	0.01	.	18.4906	0.90846	0.0855:0.0:0.709:0.2055	.	466	Q8N697	S15A4_HUMAN	M	466;129	ENSP00000266771:I466M;ENSP00000439946:I129M	ENSP00000266771:I466M	I	-	3	3	SLC15A4	127851368	0.062000	0.20869	0.079000	0.20413	0.152000	0.21847	-0.986000	0.03747	-2.154000	0.00792	-2.570000	0.00171	ATC		PASS	0.542	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		26	74	26	74	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130827641	130827641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:130827641C>A	ENST00000245255.3	+	3	457	c.185C>A	c.(184-186)tCa>tAa	p.S62*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	62					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.S62*(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACAGCCAAGTCACAAGGTGAA	0.433																																						uc001uik.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(184-186)TCA>TAA		piwi-like 1							62.0	51.0	55.0					12																	130827641		2203	4300	6503	SO:0001587	stop_gained	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130827641C>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.185C>A	12.37:g.130827641C>A	ENSP00000245255:p.Ser62*					PIWIL1_uc001uij.1_Nonsense_Mutation_p.S62*	p.S62*	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	3	275	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		62					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	ENST00000245255.3	37	c.185C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544034	0.86022	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	.	.	.	5.13	5.13	0.70059	.	1.050480	0.07430	N	0.895518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6747	17.5036	0.87738	0.0:1.0:0.0:0.0	.	.	.	.	X	62	.	ENSP00000245255:S62X	S	+	2	0	PIWIL1	129393594	0.995000	0.38212	1.000000	0.80357	0.418000	0.31294	2.353000	0.44089	2.544000	0.85801	0.467000	0.42956	TCA		PASS	0.433	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			20	44	20	44	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25280467	25280467	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr13:25280467G>T	ENST00000381946.3	+	15	2202	c.2035G>T	c.(2035-2037)Gtg>Ttg	p.V679L	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Missense_Mutation_p.V685L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	679					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.V679L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CAAGGCCGCTGTGGTGACTGG	0.557																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2035-2037)GTG>TTG		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						100.0	84.0	90.0					13																	25280467		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25280467G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2035G>T	13.37:g.25280467G>T	ENSP00000371372:p.Val679Leu					ATP12A_uc010aaa.2_Missense_Mutation_p.V685L	p.V679L	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	15	2222	+		Lung SC(185;0.0225)|Breast(139;0.077)	679			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2035G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064413	0.55432	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.94931	-3.56;-3.56	5.9	5.06	0.68205	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000004	D	0.96981	0.9014	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.99	D	0.97383	0.9984	10	0.87932	D	0	.	13.0794	0.59104	0.0776:0.0:0.9224:0.0	.	685;679	P54707-2;P54707	.;AT12A_HUMAN	L	685;679	ENSP00000218548:V685L;ENSP00000371372:V679L	ENSP00000218548:V685L	V	+	1	0	ATP12A	24178467	1.000000	0.71417	0.834000	0.33040	0.077000	0.17291	7.902000	0.87389	1.500000	0.48636	-0.244000	0.11960	GTG		PASS	0.557	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		16	81	16	81	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35672485	35672485	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr13:35672485G>T	ENST00000400445.3	+	11	2157	c.1623G>T	c.(1621-1623)atG>atT	p.M541I	NBEA_ENST00000310336.4_Missense_Mutation_p.M541I|NBEA_ENST00000379939.2_Missense_Mutation_p.M541I|NBEA_ENST00000540320.1_Missense_Mutation_p.M541I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	541					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.M541I(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGTAGCCATGCAAGAACAGA	0.368																																						uc001uvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(1621-1623)ATG>ATT		neurobeachin							93.0	84.0	87.0					13																	35672485		1888	4118	6006	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35672485G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1623G>T	13.37:g.35672485G>T	ENSP00000383295:p.Met541Ile						p.M541I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	12	1829	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	541					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1623G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074712	0.76415	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.57536	1.79	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.50039	-0.8874	10	0.18710	T	0.47	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	541	Q5T321	.	I	541	ENSP00000440951:M541I;ENSP00000383295:M541I;ENSP00000369271:M541I;ENSP00000308534:M541I	ENSP00000308534:M541I	M	+	3	0	NBEA	34570485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.680000	0.98651	2.345000	0.79718	0.585000	0.79938	ATG		PASS	0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		6	9	6	9	---	---	---	---
STOML3	161003	broad.mit.edu	37	13	39541076	39541076	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr13:39541076G>T	ENST00000379631.4	-	7	1106	c.762C>A	c.(760-762)agC>agA	p.S254R	STOML3_ENST00000423210.1_Missense_Mutation_p.S245R	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	254					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.S254R(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGGCTACCGTGCTCAAGGTCT	0.507																																						uc001uwx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(760-762)AGC>AGA		stomatin-like 3 isoform 1							93.0	86.0	89.0					13																	39541076		2203	4300	6503	SO:0001583	missense	161003					integral to membrane|plasma membrane		g.chr13:39541076G>T	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.762C>A	13.37:g.39541076G>T	ENSP00000368952:p.Ser254Arg					STOML3_uc010tez.1_Missense_Mutation_p.S245R	p.S254R	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	7	900	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	254			Cytoplasmic (Potential).		B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.762C>A	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399790	0.25291	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.99652	-6.3;-6.3	5.46	4.43	0.53597	.	0.453160	0.26883	N	0.022006	D	0.97343	0.9131	N	0.16066	0.365	0.32165	N	0.582467	B;B	0.20052	0.041;0.041	B;B	0.21546	0.035;0.035	D	0.97529	1.0078	10	0.39692	T	0.17	-18.0416	9.232	0.37444	0.0895:0.0:0.7597:0.1508	.	245;254	B4E285;Q8TAV4	.;STML3_HUMAN	R	254;245	ENSP00000368952:S254R;ENSP00000401989:S245R	ENSP00000368952:S254R	S	-	3	2	STOML3	38439076	1.000000	0.71417	0.914000	0.36105	0.011000	0.07611	2.588000	0.46137	2.552000	0.86080	0.655000	0.94253	AGC		PASS	0.507	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			38	81	38	81	---	---	---	---
PROSER1	80209	broad.mit.edu	37	13	39596551	39596551	+	Splice_Site	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr13:39596551T>A	ENST00000352251.3	-	9	1477		c.e9-2		PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Splice_Site	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1									p.?(1)									TATAAGCACCTAAAATAAAAA	0.363																																						uc001uwy.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.e9-1		hypothetical protein LOC80209 isoform 1							112.0	113.0	112.0					13																	39596551		2203	4300	6503	SO:0001630	splice_region_variant	80209							g.chr13:39596551T>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.644-2A>T	13.37:g.39596551T>A						C13orf23_uc001uwz.2_Splice_Site_p.S193_splice	p.S215_splice	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	9	1517	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)						A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Splice_Site	SNP	ENST00000352251.3	37	c.644_splice	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818054	0.71028	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1411	0.72612	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PROSER1	38494551	1.000000	0.71417	0.962000	0.40283	0.878000	0.50629	6.620000	0.74224	2.162000	0.67917	0.533000	0.62120	.		PASS	0.363	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	Intron	46	117	46	117	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92380805	92380805	+	Missense_Mutation	SNP	G	G	T	rs372530892		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr13:92380805G>T	ENST00000377067.3	+	4	1412	c.1040G>T	c.(1039-1041)cGc>cTc	p.R347L	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R347L(2)|p.R347H(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTTGTGGCCGCCCTGTAAGA	0.418																																						uc010tif.1																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1039-1041)CGC>CTC		glypican 5 precursor							110.0	113.0	112.0					13																	92380805		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380805G>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1040G>T	13.37:g.92380805G>T	ENSP00000366267:p.Arg347Leu						p.R347L	NM_004466	NP_004457	P78333	GPC5_HUMAN			4	1406	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	347					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1040G>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600434	0.28534	.	.	ENSG00000179399	ENST00000377067	T	0.50277	0.75	5.88	-6.19	0.02078	.	0.766929	0.12691	N	0.447174	T	0.22244	0.0536	N	0.17082	0.46	0.18873	N	0.999986	B	0.02656	0.0	B	0.12156	0.007	T	0.11131	-1.0600	10	0.34782	T	0.22	-8.6529	4.9072	0.13804	0.622:0.1319:0.1513:0.0947	.	347	P78333	GPC5_HUMAN	L	347	ENSP00000366267:R347L	ENSP00000366267:R347L	R	+	2	0	GPC5	91178806	0.020000	0.18652	0.744000	0.31058	0.664000	0.39144	-0.447000	0.06828	-0.706000	0.05028	0.557000	0.71058	CGC		PASS	0.418	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		63	137	63	137	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96555254	96555254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr13:96555254C>A	ENST00000376747.3	-	21	2426	c.2356G>T	c.(2356-2358)Gag>Tag	p.E786*		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	786					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.E786*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCTGTGTTCTCTTCATTTATT	0.338																																						uc001vmt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2356-2358)GAG>TAG		UDP-glucose ceramide glucosyltransferase-like 2							75.0	76.0	76.0					13																	96555254		2202	4298	6500	SO:0001587	stop_gained	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96555254C>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2356G>T	13.37:g.96555254C>A	ENSP00000365938:p.Glu786*						p.E786*	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			21	2526	-			786					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Nonsense_Mutation	SNP	ENST00000376747.3	37	c.2356G>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	40	8.498776	0.98838	.	.	ENSG00000102595	ENST00000376747	.	.	.	5.66	5.66	0.87406	.	0.225320	0.44902	D	0.000404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-19.0103	19.7355	0.96200	0.0:1.0:0.0:0.0	.	.	.	.	X	786	.	ENSP00000365938:E786X	E	-	1	0	UGGT2	95353255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.523000	0.73787	2.669000	0.90835	0.650000	0.86243	GAG		PASS	0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		43	100	43	100	---	---	---	---
OR11H4	390442	broad.mit.edu	37	14	20711839	20711839	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:20711839C>G	ENST00000315409.2	+	1	942	c.889C>G	c.(889-891)Cct>Gct	p.P297A		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P297A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCTTTTTAATCCTCTGATCTA	0.398																																						uc010tld.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(889-891)CCT>GCT		olfactory receptor, family 11, subfamily H,							120.0	118.0	119.0					14																	20711839		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711839C>G		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.889C>G	14.37:g.20711839C>G	ENSP00000318997:p.Pro297Ala						p.P297A	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	889	+	all_cancers(95;0.000888)		297			Helical; Name=7; (Potential).		B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.889C>G	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944481	0.73672	.	.	ENSG00000176198	ENST00000315409	T	0.63255	-0.03	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000077	D	0.83280	0.5220	M	0.92077	3.27	0.48135	D	0.999597	D	0.89917	1.0	D	0.87578	0.998	D	0.87527	0.2450	10	0.87932	D	0	-16.3126	15.1505	0.72692	0.0:1.0:0.0:0.0	.	297	Q8NGC9	O11H4_HUMAN	A	297	ENSP00000318997:P297A	ENSP00000318997:P297A	P	+	1	0	OR11H4	19781679	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.220000	0.78008	2.437000	0.82529	0.655000	0.94253	CCT		PASS	0.398	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			33	161	33	161	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23873957	23873957	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:23873957C>T	ENST00000356287.3	-	6	634	c.605G>A	c.(604-606)gGt>gAt	p.G202D	MYH6_ENST00000405093.3_Missense_Mutation_p.G202D			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	202	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.G202D(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCACGGTCACCTATGGCTGC	0.592																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(604-606)GGT>GAT		myosin heavy chain 6							124.0	108.0	113.0					14																	23873957		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23873957C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.605G>A	14.37:g.23873957C>T	ENSP00000348634:p.Gly202Asp					MYH6_uc010akp.1_Missense_Mutation_p.G202D	p.G202D	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	7	672	-	all_cancers(95;2.54e-05)		202			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.605G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.736630	0.89482	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87103	-2.21;-2.21	3.51	3.51	0.40186	Myosin head, motor domain (2);	.	.	.	.	D	0.88923	0.6569	L	0.35414	1.06	0.52099	D	0.999949	P;P	0.44659	0.84;0.84	P;P	0.62184	0.899;0.899	D	0.90043	0.4143	9	0.72032	D	0.01	.	14.1166	0.65159	0.0:1.0:0.0:0.0	.	202;202	D9YZU2;P13533	.;MYH6_HUMAN	D	202	ENSP00000386041:G202D;ENSP00000348634:G202D	ENSP00000348634:G202D	G	-	2	0	MYH6	22943797	0.998000	0.40836	0.996000	0.52242	0.991000	0.79684	6.241000	0.72369	1.958000	0.56883	0.549000	0.68633	GGT		PASS	0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			16	53	16	53	---	---	---	---
C14orf28	122525	broad.mit.edu	37	14	45373614	45373614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:45373614G>T	ENST00000325192.3	+	4	906	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Nonsense_Mutation_p.E181*|C14orf28_ENST00000553841.1_3'UTR	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	211								p.E211*(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGGCTTAAGAGAATTTTCCCA	0.388																																						uc001wvo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(631-633)GAA>TAA		hypothetical protein LOC122525							200.0	192.0	194.0					14																	45373614		2203	4300	6503	SO:0001587	stop_gained	122525							g.chr14:45373614G>T	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.631G>T	14.37:g.45373614G>T	ENSP00000326846:p.Glu211*					C14orf28_uc001wvp.1_Nonsense_Mutation_p.E211*	p.E211*	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN			4	897	+			211						Nonsense_Mutation	SNP	ENST00000325192.3	37	c.631G>T	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	G	36	5.871822	0.97049	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	.	.	.	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.4701	0.55781	0.0813:0.0:0.9187:0.0	.	.	.	.	X	211;181	.	ENSP00000326846:E211X	E	+	1	0	C14orf28	44443364	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.714000	0.84703	1.434000	0.47414	0.591000	0.81541	GAA		PASS	0.388	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		45	253	45	253	---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50623787	50623787	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:50623787T>A	ENST00000216373.5	-	12	2261	c.1987A>T	c.(1987-1989)Aaa>Taa	p.K663*	SOS2_ENST00000543680.1_Nonsense_Mutation_p.K630*|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	663	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K663*(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGCTCGCCTTTCTCTATTGCC	0.363																																						uc001wxs.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1987-1989)AAA>TAA		son of sevenless homolog 2							88.0	77.0	81.0					14																	50623787		2203	4300	6503	SO:0001587	stop_gained	6655				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	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50623787T>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1987A>T	14.37:g.50623787T>A	ENSP00000216373:p.Lys663*					SOS2_uc010tql.1_Nonsense_Mutation_p.K630*|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Nonsense_Mutation_p.K351*	p.K663*	NM_006939	NP_008870	Q07890	SOS2_HUMAN			12	2085	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		663			N-terminal Ras-GEF.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Nonsense_Mutation	SNP	ENST00000216373.5	37	c.1987A>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	37	6.334656	0.97485	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	.	.	.	4.95	4.95	0.65309	.	0.133751	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	14.9273	0.70890	0.0:0.0:0.0:1.0	.	.	.	.	X	663;630	.	ENSP00000216373:K663X	K	-	1	0	SOS2	49693537	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.113000	0.57851	1.977000	0.57605	0.477000	0.44152	AAA		PASS	0.363	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			13	52	13	52	---	---	---	---
TMEM260	54916	broad.mit.edu	37	14	57052579	57052579	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:57052579G>T	ENST00000261556.6	+	3	415	c.293G>T	c.(292-294)tGt>tTt	p.C98F	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.C98F	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	98						integral component of membrane (GO:0016021)		p.C98F(1)									AATCTTCTCTGTGGCTTATTT	0.413																																						uc001xcm.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(292-294)TGT>TTT		hypothetical protein LOC54916							234.0	208.0	216.0					14																	57052579		2203	4300	6503	SO:0001583	missense	54916					integral to membrane		g.chr14:57052579G>T	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.293G>T	14.37:g.57052579G>T	ENSP00000261556:p.Cys98Phe					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.C98F|C14orf101_uc010aot.1_Missense_Mutation_p.C98F|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	p.C98F	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	3	415	+			98			Helical; (Potential).		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.293G>T	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685732	0.68157	.	.	ENSG00000070269	ENST00000556810;ENST00000261556;ENST00000538838	T;T	0.44881	1.51;0.91	5.58	5.58	0.84498	.	0.145440	0.64402	D	0.000006	T	0.64294	0.2585	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.64232	-0.6456	10	0.54805	T	0.06	-13.6609	19.5475	0.95305	0.0:0.0:1.0:0.0	.	98	Q9NX78	CN101_HUMAN	F	61;98;98	ENSP00000261556:C98F;ENSP00000441934:C98F	ENSP00000261556:C98F	C	+	2	0	C14orf101	56122332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.103000	0.77014	2.628000	0.89032	0.563000	0.77884	TGT		PASS	0.413	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		31	225	31	225	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69813862	69813862	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:69813862C>A	ENST00000337827.4	+	13	1704	c.1377C>A	c.(1375-1377)atC>atA	p.I459I	GALNT16_ENST00000448469.3_Silent_p.I459I|GALNT16_ENST00000553669.1_Silent_p.I459I	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	459	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I459I(1)									GAATGGGGATCTGCAGAGGGT	0.592											OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010aqu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1375-1377)ATC>ATA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							54.0	47.0	50.0					14																	69813862		2203	4300	6503	SO:0001819	synonymous_variant	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69813862C>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1377C>A	14.37:g.69813862C>A			OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1117	GALNTL1_uc001xla.1_Silent_p.I459I|GALNTL1_uc001xlb.1_Silent_p.I459I	p.I459I	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	13	1470	+			459			Ricin B-type lectin.|Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Silent	SNP	ENST00000337827.4	37	c.1377C>A	CCDS32107.1																																																																																				PASS	0.592	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		15	64	15	64	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75017795	75017795	+	Missense_Mutation	SNP	C	C	A	rs199608037		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:75017795C>A	ENST00000261978.4	-	7	2044	c.1658G>T	c.(1657-1659)cGg>cTg	p.R553L	LTBP2_ENST00000556690.1_Missense_Mutation_p.R553L|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	553	TB 1.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R553L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGGTAACACCGGCCCAGCAG	0.637																																						uc001xqa.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(1657-1659)CGG>CTG		latent transforming growth factor beta binding							38.0	39.0	39.0					14																	75017795		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75017795C>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1658G>T	14.37:g.75017795C>A	ENSP00000261978:p.Arg553Leu						p.R553L	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	7	2045	-			553			TB 1.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1658G>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631159	0.67015	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.26067	1.76;1.76	4.55	3.65	0.41850	Matrix fibril-associated (2);TGF-beta binding (1);	0.192357	0.24779	N	0.035673	T	0.24928	0.0605	M	0.69358	2.11	0.34608	D	0.717237	P	0.40515	0.719	B	0.35073	0.195	T	0.42344	-0.9457	10	0.49607	T	0.09	.	10.1087	0.42550	0.0:0.9059:0.0:0.0941	.	553	Q14767	LTBP2_HUMAN	L	553	ENSP00000261978:R553L;ENSP00000451477:R553L	ENSP00000261978:R553L	R	-	2	0	LTBP2	74087548	0.994000	0.37717	0.994000	0.49952	0.953000	0.61014	3.078000	0.50096	1.102000	0.41551	0.462000	0.41574	CGG		PASS	0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		12	73	12	73	---	---	---	---
ISM2	145501	broad.mit.edu	37	14	77944917	77944917	+	Splice_Site	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:77944917C>G	ENST00000342219.4	-	5	1171		c.e5+1		ISM2_ENST00000393684.3_Splice_Site|ISM2_ENST00000429906.1_Splice_Site|ISM2_ENST00000493585.1_Splice_Site|ISM2_ENST00000412904.1_Splice_Site	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2							extracellular region (GO:0005576)		p.?(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCATCTCACCAGGACAGGA	0.637																																						uc001xtz.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e5+1		isthmin 2 homolog isoform 1							69.0	55.0	60.0					14																	77944917		2203	4300	6503	SO:0001630	splice_region_variant	145501					extracellular region		g.chr14:77944917C>G	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1114+1G>C	14.37:g.77944917C>G						ISM2_uc001xua.2_Splice_Site_p.L256_splice|ISM2_uc001xty.2_Splice_Site_p.G284_splice|ISM2_uc010tvl.1_Splice_Site_p.G291_splice	p.G372_splice	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			5	1188	-								A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Splice_Site	SNP	ENST00000342219.4	37	c.1114_splice	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474882	0.43942	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684;ENST00000493585	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6527	0.88169	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ISM2	77014670	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	7.545000	0.82128	2.168000	0.68352	0.655000	0.94253	.		PASS	0.637	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509	Intron	26	73	26	73	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102504837	102504837	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:102504837A>T	ENST00000360184.4	+	58	11113	c.10949A>T	c.(10948-10950)aAc>aTc	p.N3650I	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3650	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.N3650I(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCGGTGCTGAACCGTGAAGTG	0.537																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10948-10950)AAC>ATC		cytoplasmic dynein 1 heavy chain 1							87.0	81.0	83.0					14																	102504837		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102504837A>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10949A>T	14.37:g.102504837A>T	ENSP00000348965:p.Asn3650Ile						p.N3650I	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			58	11113	+			3650			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10949A>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	32	5.150231	0.94645	.	.	ENSG00000197102	ENST00000360184	T	0.21932	1.98	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67296	-0.5706	10	0.56958	D	0.05	.	16.2009	0.82078	1.0:0.0:0.0:0.0	.	3650	Q14204	DYHC1_HUMAN	I	3650	ENSP00000348965:N3650I	ENSP00000348965:N3650I	N	+	2	0	DYNC1H1	101574590	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.326000	0.96389	2.235000	0.73313	0.533000	0.62120	AAC		PASS	0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		15	91	15	91	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105417279	105417279	+	Missense_Mutation	SNP	G	G	T	rs200302560	byFrequency	TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:105417279G>T	ENST00000333244.5	-	7	4628	c.4509C>A	c.(4507-4509)ttC>ttA	p.F1503L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1503						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.F1503L(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)			CAGACACCCCGAACGACGGCA	0.602																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4507-4509)TTC>TTA		AHNAK nucleoprotein 2							189.0	132.0	150.0					14																	105417279		1930	4032	5962	SO:0001583	missense	113146					nucleus		g.chr14:105417279G>T	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.4509C>A	14.37:g.105417279G>T	ENSP00000353114:p.Phe1503Leu					AHNAK2_uc001ypx.2_Missense_Mutation_p.F1403L	p.F1503L	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	4629	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1503					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4509C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	5.605	0.296417	0.10622	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	4.06	-5.59	0.02505	.	.	.	.	.	T	0.04588	0.0125	L	0.60455	1.87	0.09310	N	1	D	0.65815	0.995	D	0.63283	0.913	T	0.04961	-1.0915	9	0.07813	T	0.8	-29.9657	13.3962	0.60853	0.3645:0.0:0.6355:0.0	.	1503	Q8IVF2	AHNK2_HUMAN	L	1503	ENSP00000353114:F1503L	ENSP00000353114:F1503L	F	-	3	2	AHNAK2	104488324	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.136000	0.01305	-1.198000	0.02669	-0.350000	0.07774	TTC		PASS	0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	91	11	91	---	---	---	---
IGHV1-2	28474	broad.mit.edu	37	14	106453066	106453066	+	RNA	SNP	G	G	T	rs113318051		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr14:106453066G>T	ENST00000390594.2	-	0	104									immunoglobulin heavy variable 1-2																		CTTACCTGTGGCTGCTGCCAC	0.552																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							55.0	56.0	55.0					14																	106453066		1878	4104	5982			8755							g.chr14:106453066G>T	X07448		14q32.33	2012-02-08			ENSG00000211934	ENSG00000211934		"""Immunoglobulins / IGH locus"""	5550	other	immunoglobulin gene							Standard	NG_001019		Approved	V35			OTTHUMG00000152320		14.37:g.106453066G>T														1974		-									RNA	SNP	ENST00000390594.2	37	c.37773C>A																																																																																					PASS	0.552	IGHV1-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325882.1	NG_001019		30	37	30	37	---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25222129	25222129	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:25222129G>T	ENST00000400100.1	+	10	1263	c.373G>T	c.(373-375)Gct>Tct	p.A125S	SNRPN_ENST00000346403.6_Missense_Mutation_p.A125S|SNURF_ENST00000551312.2_Intron|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000554227.2_Missense_Mutation_p.A129S|SNRPN_ENST00000577565.1_Missense_Mutation_p.A125S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Missense_Mutation_p.A125S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A125S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A125S|SNRPN_ENST00000444203.2_Missense_Mutation_p.A129S	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	125					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.A125S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCAGGCCCCTGCTGGATTGGC	0.587									Prader-Willi syndrome																													uc001ywp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(373-375)GCT>TCT		small nuclear ribonucleoprotein polypeptide N							46.0	49.0	48.0					15																	25222129		1858	4094	5952	SO:0001583	missense	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25222129G>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.373G>T	15.37:g.25222129G>T	ENSP00000382972:p.Ala125Ser					SNRPN_uc001ywq.1_Missense_Mutation_p.A125S|SNRPN_uc001ywr.1_Missense_Mutation_p.A125S|SNRPN_uc001yws.1_Missense_Mutation_p.A125S|SNRPN_uc001ywt.1_Missense_Mutation_p.A125S|SNRPN_uc001ywv.1_Missense_Mutation_p.A128S|SNRPN_uc001yww.1_Missense_Mutation_p.A125S|SNRPN_uc001ywx.1_Missense_Mutation_p.A125S|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.A125S	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	10	1263	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	125					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.373G>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124964	0.56613	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	3.79	2.85	0.33270	.	0.118259	0.56097	D	0.000026	T	0.40347	0.1113	M	0.63843	1.955	0.80722	D	1	P;P	0.40834	0.73;0.73	B;B	0.41299	0.353;0.353	T	0.28267	-1.0049	10	0.35671	T	0.21	-17.7134	10.793	0.46445	0.0:0.0:0.8093:0.1907	.	129;125	B3KVR1;P63162	.;RSMN_HUMAN	S	125;125;125;129;125;129	ENSP00000382972:A125S;ENSP00000382970:A125S;ENSP00000382969:A125S;ENSP00000452342:A129S;ENSP00000375105:A125S;ENSP00000408767:A129S	ENSP00000375105:A125S	A	+	1	0	SNRPN	22773222	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.891000	0.87319	1.132000	0.42129	0.561000	0.74099	GCT		PASS	0.587	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		22	97	22	97	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28116342	28116342	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:28116342C>A	ENST00000354638.3	-	21	2357	c.2202G>T	c.(2200-2202)ctG>ctT	p.L734L	OCA2_ENST00000353809.5_Silent_p.L710L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	734					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.L734L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGGACGACGCCAGGGCTGAGA	0.577									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(2200-2202)CTG>CTT		oculocutaneous albinism II							157.0	122.0	134.0					15																	28116342		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28116342C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2202G>T	15.37:g.28116342C>A						OCA2_uc010ayv.2_Silent_p.L710L	p.L734L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	21	2312	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	734			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.2202G>T	CCDS10020.1																																																																																				PASS	0.577	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		6	77	6	77	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33925293	33925293	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:33925293C>A	ENST00000389232.4	+	24	3081	c.3011C>A	c.(3010-3012)aCc>aAc	p.T1004N	RYR3_ENST00000415757.3_Missense_Mutation_p.T1004N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1004	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.T1004N(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)		CAAGGATGGACCTATGGCATC	0.413																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3010-3012)ACC>AAC		ryanodine receptor 3							84.0	77.0	79.0					15																	33925293		1899	4117	6016	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33925293C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3011C>A	15.37:g.33925293C>A	ENSP00000373884:p.Thr1004Asn					RYR3_uc010bar.2_Missense_Mutation_p.T1004N	p.T1004N	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)	24	3081	+		all_lung(180;7.18e-09)	1004			2.|4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3011C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674764	0.88445	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91945	-2.94;-2.94	5.41	5.41	0.78517	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.99;0.998	D	0.96732	0.9540	10	0.66056	D	0.02	.	19.3843	0.94550	0.0:1.0:0.0:0.0	.	1004;1004	Q15413-2;Q15413	.;RYR3_HUMAN	N	1004	ENSP00000373884:T1004N;ENSP00000399610:T1004N	ENSP00000354735:T1004N	T	+	2	0	RYR3	31712585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.814000	0.96858	0.591000	0.81541	ACC		PASS	0.413	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			12	70	12	70	---	---	---	---
LTK	4058	broad.mit.edu	37	15	41796998	41796998	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:41796998C>T	ENST00000263800.6	-	17	2189	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D	LTK_ENST00000453182.2_Missense_Mutation_p.G568D|LTK_ENST00000355166.5_Missense_Mutation_p.G637D|LTK_ENST00000561619.1_Missense_Mutation_p.G396D	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G698D(1)|p.G637D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGTGAAGATGCCCTCCAGGAA	0.597										TSP Lung(18;0.14)																												uc001zoa.3																			2	Substitution - Missense(2)		lung(2)	lung(6)|central_nervous_system(1)	7						c.(2092-2094)GGC>GAC		leukocyte receptor tyrosine kinase isoform 1							54.0	59.0	57.0					15																	41796998		2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41796998C>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2093G>A	15.37:g.41796998C>T	ENSP00000263800:p.Gly698Asp	TSP Lung(18;0.14)				LTK_uc001zob.3_Missense_Mutation_p.G637D|LTK_uc010ucx.1_Missense_Mutation_p.G568D|LTK_uc010bcg.2_Missense_Mutation_p.G396D	p.G698D	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	17	2271	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	698			Protein kinase.|Cytoplasmic (Potential).		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.2093G>A	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326128	0.81580	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;D	0.82803	-1.65;-1.65;-1.65	4.72	3.8	0.43715	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33496	U	0.004848	D	0.88683	0.6503	M	0.64676	1.99	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.985;0.997;0.998	D	0.89244	0.3586	10	0.87932	D	0	.	12.0351	0.53420	0.0:0.9152:0.0:0.0848	.	568;568;637;698	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	D	637;698;568	ENSP00000347293:G637D;ENSP00000263800:G698D;ENSP00000392196:G568D	ENSP00000263800:G698D	G	-	2	0	LTK	39584290	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.368000	0.66133	1.216000	0.43427	0.655000	0.94253	GGC		PASS	0.597	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			14	103	14	103	---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41865899	41865900	+	Missense_Mutation	DNP	GG	GG	TT	rs138665905		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:41865899_41865900GG>TT	ENST00000263798.3	+	18	2392_2393	c.2168_2169GG>TT	c.(2167-2169)tGG>tTT	p.W723F	TYRO3_ENST00000559066.1_Missense_Mutation_p.W678F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	723	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W715F(1)|p.W715C(1)|p.W715L(1)|p.W723L(1)|p.W723C(1)|p.W723F(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTGACCATGTGGGAGATCATGA	0.569																																						uc001zof.1																			6	Substitution - Missense(6)		lung(6)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(2167-2169)TGG>TTG|c.(2167-2169)TGG>TGT		TYRO3 protein tyrosine kinase precursor																																				SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865899G>T|g.chr15:41865900G>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	Exception_encountered	15.37:g.41865899_41865900delinsTT	ENSP00000263798:p.Trp723Phe						p.W723L|p.W723C	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	18	2392|2393	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	723			Protein kinase.|Cytoplasmic (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.2168G>T|c.2169G>T	CCDS10080.1																																																																																				PASS	0.569	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			19	207|206	19	206	---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42439472	42439472	+	Missense_Mutation	SNP	C	C	A	rs367756743		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:42439472C>A	ENST00000382396.4	-	13	1355	c.1269G>T	c.(1267-1269)caG>caT	p.Q423H	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.Q425H			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	423	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.Q423H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGACGTGAACCTGGGCACGCT	0.622																																						uc001zoz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1267-1269)CAG>CAT		phospholipase A2, group IVF							67.0	61.0	63.0					15																	42439472		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439472C>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1269G>T	15.37:g.42439472C>A	ENSP00000371833:p.Gln423His					PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.Q55H|PLA2G4F_uc010bcr.2_Missense_Mutation_p.Q174H|PLA2G4F_uc001zpa.2_Missense_Mutation_p.Q174H|PLA2G4F_uc010bcs.2_Missense_Mutation_p.Q210H	p.Q423H	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	13	1332	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	423			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1269G>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189931	0.38707	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.11930	2.73;2.73	5.35	-1.14	0.09741	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	1.300450	0.05039	N	0.475966	T	0.18635	0.0447	N	0.24115	0.695	0.09310	N	1	D;D	0.54397	0.966;0.966	P;P	0.55161	0.77;0.694	T	0.44390	-0.9331	10	0.72032	D	0.01	-0.7914	10.9069	0.47086	0.0:0.5224:0.0:0.4776	.	210;423	A2RRC4;Q68DD2	.;PA24F_HUMAN	H	419;425;423;423;423	ENSP00000380442:Q425H;ENSP00000371833:Q423H	ENSP00000290497:Q419H	Q	-	3	2	PLA2G4F	40226764	0.000000	0.05858	0.006000	0.13384	0.290000	0.27261	0.191000	0.17076	-0.135000	0.11495	0.561000	0.74099	CAG		PASS	0.622	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		17	89	17	89	---	---	---	---
USP50	373509	broad.mit.edu	37	15	50822029	50822029	+	Missense_Mutation	SNP	G	G	A	rs200392181		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:50822029G>A	ENST00000532404.1	-	6	1074	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	306	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.R306W(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GGATATTTCCGGAAAATTGAG	0.368																																						uc001zyq.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(916-918)CGG>TGG		ubiquitin specific protease 50		G	TRP/ARG	0,3688		0,0,1844	145.0	132.0	136.0		901	4.7	1.0	15		136	1,8165		0,1,4082	no	missense	USP50	NM_203494.4	101	0,1,5926	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	301/335	50822029	1,11853	1844	4083	5927	SO:0001583	missense	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50822029G>A	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.901C>T	15.37:g.50822029G>A	ENSP00000434676:p.Arg301Trp						p.R306W	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	6	1096	-			301					E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	c.916C>T	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322148	0.60634	0.0	1.22E-4	ENSG00000170236	ENST00000532404	T	0.33216	1.42	5.67	4.73	0.59995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.524166	0.19063	N	0.123706	T	0.59238	0.2179	M	0.86343	2.81	0.31911	N	0.614645	D	0.89917	1.0	D	0.78314	0.991	T	0.70865	-0.4756	10	0.72032	D	0.01	-20.26	11.7469	0.51825	0.0:0.0:0.8238:0.1762	.	306	Q70EL3	UBP50_HUMAN	W	301	ENSP00000434676:R301W	ENSP00000434676:R301W	R	-	1	2	USP50	48609321	0.997000	0.39634	0.980000	0.43619	0.602000	0.36980	2.921000	0.48852	1.338000	0.45544	0.655000	0.94253	CGG		PASS	0.368	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			15	102	15	102	---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59344503	59344503	+	Splice_Site	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:59344503G>A	ENST00000557998.1	+	3	1167		c.e3-1		RNF111_ENST00000348370.4_Splice_Site|RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000559209.1_Splice_Site|RNF111_ENST00000434298.1_Splice_Site	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111						gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTTGTTTCCAGGAAGTATTGA	0.368																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2																			2	Unknown(2)		lung(2)	ovary(2)	2						c.e3-1		ring finger protein 111							127.0	126.0	126.0					15																	59344503		2192	4291	6483	SO:0001630	splice_region_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59344503G>A	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.881-1G>A	15.37:g.59344503G>A						RNF111_uc002afs.2_Splice_Site_p.G294_splice|RNF111_uc002aft.2_Splice_Site_p.G294_splice|RNF111_uc002afu.2_Splice_Site_p.G294_splice|RNF111_uc002afw.2_Splice_Site_p.G294_splice	p.G294_splice	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	3	1160	+								C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Splice_Site	SNP	ENST00000557998.1	37	c.881_splice	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964290	0.74131	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4732	0.94971	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF111	57131795	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	8.578000	0.90777	2.588000	0.87417	0.563000	0.77884	.		PASS	0.368	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	Intron	35	170	35	170	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425284	74425284	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:74425284C>T	ENST00000361742.3	+	4	958	c.189C>T	c.(187-189)atC>atT	p.I63I	ISLR2_ENST00000419208.1_Silent_p.I63I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.I63I|ISLR2_ENST00000565540.1_Silent_p.I63I|ISLR2_ENST00000435464.1_Silent_p.I63I|ISLR2_ENST00000445793.1_Silent_p.I63I|ISLR2_ENST00000453268.2_Silent_p.I63I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	63					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I63I(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGAACAAGATCACTGTGCTGC	0.647																																						uc002axd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(187-189)ATC>ATT		immunoglobulin superfamily containing							69.0	58.0	61.0					15																	74425284		2198	4297	6495	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425284C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.189C>T	15.37:g.74425284C>T						ISLR2_uc002axe.2_Silent_p.I63I|ISLR2_uc010bjg.2_Silent_p.I63I|ISLR2_uc010bjf.2_Silent_p.I63I	p.I63I	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	958	+			63			LRR 1.|Extracellular (Potential).		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.189C>T	CCDS10259.1																																																																																				PASS	0.647	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		26	104	26	104	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425431	74425431	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:74425431C>T	ENST00000361742.3	+	4	1105	c.336C>T	c.(334-336)tcC>tcT	p.S112S	ISLR2_ENST00000419208.1_Silent_p.S112S|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.S112S|ISLR2_ENST00000565540.1_Silent_p.S112S|ISLR2_ENST00000435464.1_Silent_p.S112S|ISLR2_ENST00000445793.1_Silent_p.S112S|ISLR2_ENST00000453268.2_Silent_p.S112S	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	112					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S112S(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						ACTTCATATCCAGCTTTCCGT	0.637																																						uc002axd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)TCC>TCT		immunoglobulin superfamily containing							79.0	75.0	76.0					15																	74425431		2198	4297	6495	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425431C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.336C>T	15.37:g.74425431C>T						ISLR2_uc002axe.2_Silent_p.S112S|ISLR2_uc010bjg.2_Silent_p.S112S|ISLR2_uc010bjf.2_Silent_p.S112S	p.S112S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1105	+			112			LRR 3.|Extracellular (Potential).		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.336C>T	CCDS10259.1																																																																																				PASS	0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		16	136	16	136	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425535	74425535	+	Missense_Mutation	SNP	C	C	T	rs202205145		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:74425535C>T	ENST00000361742.3	+	4	1209	c.440C>T	c.(439-441)cCc>cTc	p.P147L	ISLR2_ENST00000419208.1_Missense_Mutation_p.P147L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.P147L|ISLR2_ENST00000565540.1_Missense_Mutation_p.P147L|ISLR2_ENST00000435464.1_Missense_Mutation_p.P147L|ISLR2_ENST00000445793.1_Missense_Mutation_p.P147L|ISLR2_ENST00000453268.2_Missense_Mutation_p.P147L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	147					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P147L(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGTGCGCTACCCGACCTGCGT	0.637																																						uc002axd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)CCC>CTC		immunoglobulin superfamily containing		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4395	2.1+/-5.4	0,1,2197	53.0	56.0	55.0		440,440,440,440	3.5	0.5	15		55	1,8593	1.2+/-3.3	0,1,4296	yes	missense,missense,missense,missense	ISLR2	NM_001130136.1,NM_001130137.1,NM_001130138.1,NM_020851.2	98,98,98,98	0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign	147/746,147/746,147/746,147/746	74425535	2,12988	2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425535C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.440C>T	15.37:g.74425535C>T	ENSP00000355402:p.Pro147Leu					ISLR2_uc002axe.2_Missense_Mutation_p.P147L|ISLR2_uc010bjg.2_Missense_Mutation_p.P147L|ISLR2_uc010bjf.2_Missense_Mutation_p.P147L	p.P147L	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1209	+			147			Extracellular (Potential).		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.440C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	7.606	0.673769	0.14841	2.27E-4	1.16E-4	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.46	3.51	0.40186	.	0.421441	0.21539	U	0.072929	T	0.50309	0.1608	L	0.49256	1.55	0.27565	N	0.950077	B	0.30851	0.297	B	0.34452	0.183	T	0.50558	-0.8814	10	0.49607	T	0.09	.	8.851	0.35199	0.1195:0.6177:0.2628:0.0	.	147	Q6UXK2	ISLR2_HUMAN	L	147	ENSP00000403244:P147L;ENSP00000355402:P147L;ENSP00000411443:P147L;ENSP00000411834:P147L;ENSP00000408872:P147L	ENSP00000355402:P147L	P	+	2	0	ISLR2	72212588	0.727000	0.28069	0.533000	0.28001	0.406000	0.30931	1.743000	0.38258	2.042000	0.60477	0.407000	0.27541	CCC		PASS	0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		15	117	15	117	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425602	74425602	+	Silent	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:74425602G>T	ENST00000361742.3	+	4	1276	c.507G>T	c.(505-507)gcG>gcT	p.A169A	ISLR2_ENST00000419208.1_Silent_p.A169A|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.A169A|ISLR2_ENST00000565540.1_Silent_p.A169A|ISLR2_ENST00000435464.1_Silent_p.A169A|ISLR2_ENST00000445793.1_Silent_p.A169A|ISLR2_ENST00000453268.2_Silent_p.A169A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	169					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A169A(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCTTCGACGCGCTTAGCGCGC	0.667																																						uc002axd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(505-507)GCG>GCT		immunoglobulin superfamily containing							55.0	62.0	59.0					15																	74425602		2198	4295	6493	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425602G>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.507G>T	15.37:g.74425602G>T						ISLR2_uc002axe.2_Silent_p.A169A|ISLR2_uc010bjg.2_Silent_p.A169A|ISLR2_uc010bjf.2_Silent_p.A169A	p.A169A	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1276	+			169			Extracellular (Potential).|LRR 5.		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.507G>T	CCDS10259.1																																																																																				PASS	0.667	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		50	127	50	127	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425682	74425682	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:74425682C>T	ENST00000361742.3	+	4	1356	c.587C>T	c.(586-588)gCc>gTc	p.A196V	ISLR2_ENST00000419208.1_Missense_Mutation_p.A196V|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A196V|ISLR2_ENST00000565540.1_Missense_Mutation_p.A196V|ISLR2_ENST00000435464.1_Missense_Mutation_p.A196V|ISLR2_ENST00000445793.1_Missense_Mutation_p.A196V|ISLR2_ENST00000453268.2_Missense_Mutation_p.A196V	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	196	LRRCT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A196V(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CAGGCCTGGGCCGCGAGCACC	0.692																																						uc002axd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)GCC>GTC		immunoglobulin superfamily containing							51.0	58.0	56.0					15																	74425682		2196	4296	6492	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425682C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.587C>T	15.37:g.74425682C>T	ENSP00000355402:p.Ala196Val					ISLR2_uc002axe.2_Missense_Mutation_p.A196V|ISLR2_uc010bjg.2_Missense_Mutation_p.A196V|ISLR2_uc010bjf.2_Missense_Mutation_p.A196V	p.A196V	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1356	+			196			Extracellular (Potential).|LRRCT.		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.587C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	5.413	0.261309	0.10239	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.46	3.55	0.40652	Cysteine-rich flanking region, C-terminal (1);	0.146062	0.46758	U	0.000276	T	0.37404	0.1002	L	0.41710	1.295	0.41441	D	0.987929	P	0.46621	0.881	P	0.45138	0.471	T	0.31586	-0.9938	10	0.02654	T	1	.	12.3224	0.54991	0.0:0.9168:0.0:0.0832	.	196	Q6UXK2	ISLR2_HUMAN	V	196	ENSP00000403244:A196V;ENSP00000355402:A196V;ENSP00000411443:A196V;ENSP00000411834:A196V;ENSP00000408872:A196V	ENSP00000355402:A196V	A	+	2	0	ISLR2	72212735	0.998000	0.40836	0.907000	0.35723	0.934000	0.57294	3.402000	0.52608	0.880000	0.35969	0.407000	0.27541	GCC		PASS	0.692	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		13	141	13	141	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425689	74425689	+	Silent	SNP	C	C	T	rs534509934		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:74425689C>T	ENST00000361742.3	+	4	1363	c.594C>T	c.(592-594)agC>agT	p.S198S	ISLR2_ENST00000419208.1_Silent_p.S198S|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.S198S|ISLR2_ENST00000565540.1_Silent_p.S198S|ISLR2_ENST00000435464.1_Silent_p.S198S|ISLR2_ENST00000445793.1_Silent_p.S198S|ISLR2_ENST00000453268.2_Silent_p.S198S	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	198	LRRCT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S198S(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGGCCGCGAGCACCCGGGTGT	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17405	0.0		0.0	False		,,,				2504	0.0					uc002axd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)AGC>AGT		immunoglobulin superfamily containing							50.0	56.0	54.0					15																	74425689		2193	4296	6489	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425689C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.594C>T	15.37:g.74425689C>T						ISLR2_uc002axe.2_Silent_p.S198S|ISLR2_uc010bjg.2_Silent_p.S198S|ISLR2_uc010bjf.2_Silent_p.S198S	p.S198S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1363	+			198			Extracellular (Potential).|LRRCT.		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.594C>T	CCDS10259.1																																																																																				PASS	0.682	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		13	142	13	142	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425918	74425918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:74425918C>T	ENST00000361742.3	+	4	1592	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	ISLR2_ENST00000419208.1_Nonsense_Mutation_p.Q275*|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Nonsense_Mutation_p.Q275*|ISLR2_ENST00000565540.1_Nonsense_Mutation_p.Q275*|ISLR2_ENST00000435464.1_Nonsense_Mutation_p.Q275*|ISLR2_ENST00000445793.1_Nonsense_Mutation_p.Q275*|ISLR2_ENST00000453268.2_Nonsense_Mutation_p.Q275*	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	275	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q275*(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						ATGGCAACTTCAGATCCCCGG	0.642																																						uc002axd.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(823-825)CAG>TAG		immunoglobulin superfamily containing							40.0	36.0	37.0					15																	74425918		2198	4297	6495	SO:0001587	stop_gained	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425918C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.823C>T	15.37:g.74425918C>T	ENSP00000355402:p.Gln275*					ISLR2_uc002axe.2_Nonsense_Mutation_p.Q275*|ISLR2_uc010bjg.2_Nonsense_Mutation_p.Q275*|ISLR2_uc010bjf.2_Nonsense_Mutation_p.Q275*	p.Q275*	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1592	+			275			Ig-like.|Extracellular (Potential).		A8K352|Q9P263	Nonsense_Mutation	SNP	ENST00000361742.3	37	c.823C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985619	0.74589	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	.	.	.	4.29	3.29	0.37713	.	0.667620	0.14513	U	0.314942	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	15.2622	0.73634	0.0:0.8456:0.1544:0.0	.	.	.	.	X	275	.	ENSP00000355402:Q275X	Q	+	1	0	ISLR2	72212971	.	.	1.000000	0.80357	0.572000	0.35998	.	.	1.944000	0.56390	0.205000	0.17691	CAG		PASS	0.642	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		5	69	5	69	---	---	---	---
CYP1A1	1543	broad.mit.edu	37	15	75013047	75013047	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:75013047T>A	ENST00000379727.3	-	7	1520	c.1322A>T	c.(1321-1323)aAg>aTg	p.K441M	CYP1A1_ENST00000395048.2_Missense_Mutation_p.K441M|CYP1A1_ENST00000395049.4_Missense_Mutation_p.K412M|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K441M			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	441					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.K441M(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	ACTTAACACCTTGTCGATAGC	0.522									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													uc002ayp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1321-1323)AAG>ATG		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						150.0	144.0	146.0					15																	75013047		2197	4296	6493	SO:0001583	missense	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013047T>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1322A>T	15.37:g.75013047T>A	ENSP00000369050:p.Lys441Met					CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.K177M|CYP1A1_uc010bjx.2_Missense_Mutation_p.K177M|CYP1A1_uc002ayq.3_Missense_Mutation_p.K441M|CYP1A1_uc010bjy.2_Missense_Mutation_p.K412M	p.K441M	NM_000499	NP_000490	P04798	CP1A1_HUMAN			7	1444	-			441					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.1322A>T	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.168478	0.38315	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.71103	-0.54;-0.54;-0.54	5.61	4.36	0.52297	.	0.096027	0.64402	D	0.000001	D	0.85809	0.5783	M	0.92219	3.285	0.58432	D	0.999998	D;D	0.76494	0.999;0.982	D;D	0.81914	0.995;0.98	D	0.86589	0.1859	10	0.87932	D	0	.	9.4015	0.38435	0.0:0.212:0.0:0.788	.	412;441	E7EMT5;P04798	.;CP1A1_HUMAN	M	441;441;412;413	ENSP00000369050:K441M;ENSP00000378488:K441M;ENSP00000378489:K412M	ENSP00000268062:K413M	K	-	2	0	CYP1A1	72800100	0.957000	0.32711	0.570000	0.28473	0.004000	0.04260	1.700000	0.37815	0.848000	0.35191	0.529000	0.55759	AAG		PASS	0.522	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		36	231	36	231	---	---	---	---
ZSCAN2	54993	broad.mit.edu	37	15	85164479	85164479	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:85164479G>A	ENST00000448803.2	+	3	1345	c.1053G>A	c.(1051-1053)acG>acA	p.T351T	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Silent_p.T350T|ZSCAN2_ENST00000546148.1_Silent_p.T351T|ZSCAN2_ENST00000358472.3_Silent_p.T201T|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	351					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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.T351T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GCCTTAACACGCATCAGGGGA	0.507																																						uc002bkr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1051-1053)ACG>ACA		zinc finger protein 29 isoform 1							127.0	130.0	129.0					15																	85164479		2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164479G>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1053G>A	15.37:g.85164479G>A						ZSCAN2_uc010bmz.1_Silent_p.T349T|ZSCAN2_uc010bna.2_Silent_p.T201T|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	p.T351T	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1279	+			351			C2H2-type 5.		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.1053G>A	CCDS10329.2																																																																																				PASS	0.507	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		48	217	48	217	---	---	---	---
WDR93	56964	broad.mit.edu	37	15	90286557	90286557	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:90286557G>A	ENST00000268130.7	+	17	2097	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	WDR93_ENST00000560294.1_Missense_Mutation_p.E638K|WDR93_ENST00000444934.2_Missense_Mutation_p.E383K	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	666					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.E666K(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGAGAAGGAGGAGGAGCACTG	0.587																																						uc002boj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1996-1998)GAG>AAG		WD repeat domain 93							71.0	77.0	75.0					15																	90286557		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90286557G>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1996G>A	15.37:g.90286557G>A	ENSP00000268130:p.Glu666Lys					WDR93_uc010bnr.2_Missense_Mutation_p.E638K|WDR93_uc010upz.1_Missense_Mutation_p.E383K	p.E666K	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		17	2097	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		666					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.1996G>A	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	G	2.578	-0.298087	0.05532	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.41065	2.01;1.01	3.71	-6.02	0.02192	.	2.406490	0.01401	N	0.013591	T	0.34164	0.0888	L	0.36672	1.1	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.17098	0.017;0.015	T	0.38607	-0.9653	10	0.54805	T	0.06	0.1836	11.201	0.48741	0.2292:0.1681:0.6027:0.0	.	638;666	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	K	666;383	ENSP00000268130:E666K;ENSP00000403871:E383K	ENSP00000268130:E666K	E	+	1	0	WDR93	88087561	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.710000	0.01888	-1.224000	0.02581	-0.388000	0.06559	GAG		PASS	0.587	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		5	129	5	129	---	---	---	---
CIB1	10519	broad.mit.edu	37	15	90771643	90771643	+	IGR	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:90771643G>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000411539.2_Missense_Mutation_p.C761F|SEMA4B_ENST00000332496.6_Missense_Mutation_p.C761F	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)	p.C761F(1)		lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCAAGACCTGCCCTGTGGTG	0.637																																						uc002boy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(2281-2283)TGC>TTC		semaphorin 4B precursor							41.0	44.0	43.0					15																	90771643		2039	4198	6237	SO:0001628	intergenic_variant	10509							g.chr15:90771643G>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771643G>T						SEMA4B_uc002boz.2_Missense_Mutation_p.C761F|SEMA4B_uc010uqd.1_Missense_Mutation_p.C599F|SEMA4B_uc002bpa.2_Missense_Mutation_p.C599F|SEMA4B_uc010bnv.1_Intron	p.C761F	NM_020210	NP_064595			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		15	2565	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.2282G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604990	0.28623	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.20598	2.06;2.06	5.28	2.34	0.29019	.	0.391809	0.27866	N	0.017525	T	0.09158	0.0226	N	0.08118	0	0.80722	D	1	B;B	0.27594	0.182;0.182	B;B	0.27887	0.084;0.084	T	0.20672	-1.0268	10	0.10111	T	0.7	.	10.168	0.42893	0.2207:0.0:0.7793:0.0	.	761;756	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	F	761	ENSP00000332204:C761F;ENSP00000394720:C761F	ENSP00000332204:C761F	C	+	2	0	SEMA4B	88572647	0.814000	0.29104	0.270000	0.24601	0.632000	0.37999	2.752000	0.47516	0.302000	0.22762	0.561000	0.74099	TGC		PASS	0.637	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			5	25	5	25	---	---	---	---
BLM	641	broad.mit.edu	37	15	91312729	91312729	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:91312729C>T	ENST00000355112.3	+	12	2586	c.2468C>T	c.(2467-2469)tCt>tTt	p.S823F	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.S823F	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	823	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.S823F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAGTTTCCTTCTGTTCCGGTG	0.438			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2			yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(2467-2469)TCT>TTT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							81.0	75.0	77.0					15																	91312729		2198	4298	6496	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91312729C>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2468C>T	15.37:g.91312729C>T	ENSP00000347232:p.Ser823Phe					BLM_uc010uqh.1_Missense_Mutation_p.S823F|BLM_uc010uqi.1_Missense_Mutation_p.S448F|BLM_uc010bnx.2_Missense_Mutation_p.S823F|BLM_uc002bps.1_Missense_Mutation_p.S385F	p.S823F	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		12	2565	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		823			Helicase ATP-binding.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2468C>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910747	0.52439	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.15834	2.39	5.16	3.24	0.37175	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.353043	0.31797	N	0.007042	T	0.27241	0.0668	M	0.66378	2.025	0.19775	N	0.99996	P;B;P	0.47484	0.896;0.299;0.896	P;P;P	0.51229	0.663;0.497;0.663	T	0.07158	-1.0787	10	0.87932	D	0	-17.9832	9.0044	0.36102	0.0:0.7679:0.1486:0.0835	.	823;448;823	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	F	823;476;10	ENSP00000347232:S823F	ENSP00000347232:S823F	S	+	2	0	BLM	89113733	0.308000	0.24509	0.981000	0.43875	0.895000	0.52256	1.910000	0.39927	0.543000	0.28864	-0.274000	0.10170	TCT		PASS	0.438	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			13	162	13	162	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100871232	100871232	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr15:100871232G>C	ENST00000268070.4	-	3	583	c.478C>G	c.(478-480)Cag>Gag	p.Q160E		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	160						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q160E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATTAGCACCTGCTCCTGCCCA	0.597																																						uc002bvv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(478-480)CAG>GAG		ADAM metallopeptidase with thrombospondin type 1							82.0	77.0	79.0					15																	100871232		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100871232G>C	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.478C>G	15.37:g.100871232G>C	ENSP00000268070:p.Gln160Glu					ADAMTS17_uc002bvx.1_5'UTR	p.Q160E	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	3	557	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		160					Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.478C>G	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	8.292	0.818034	0.16607	.	.	ENSG00000140470	ENST00000268070	T	0.04603	3.59	5.09	5.09	0.68999	Peptidase M12B, propeptide (1);	0.681821	0.14052	N	0.344647	T	0.02380	0.0073	N	0.02225	-0.63	0.30541	N	0.766481	B	0.33000	0.393	B	0.34536	0.185	T	0.10989	-1.0606	10	0.02654	T	1	.	15.4545	0.75302	0.0:0.0:1.0:0.0	.	160	Q8TE56	ATS17_HUMAN	E	160	ENSP00000268070:Q160E	ENSP00000268070:Q160E	Q	-	1	0	ADAMTS17	98688755	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.408000	0.66368	2.351000	0.79841	0.655000	0.94253	CAG		PASS	0.597	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		39	104	39	104	---	---	---	---
LMF1	64788	broad.mit.edu	37	16	919971	919971	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:919971C>T	ENST00000262301.11	-	9	1346	c.1328G>A	c.(1327-1329)tGc>tAc	p.C443Y	LMF1_ENST00000568897.1_Missense_Mutation_p.C226Y|LMF1_ENST00000399843.2_Missense_Mutation_p.C443Y|LMF1_ENST00000543238.1_Missense_Mutation_p.C206Y|LMF1_ENST00000568268.1_5'Flank	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	443					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.C443Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				ACCTGGCTTGCACTTGAACTC	0.662																																						uc002ckj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1327-1329)TGC>TAC		lipase maturation factor 1							70.0	82.0	78.0					16																	919971		2160	4259	6419	SO:0001583	missense	64788					endoplasmic reticulum membrane|integral to membrane		g.chr16:919971C>T	AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"""chromosome 16 open reading frame 26"", ""transmembrane protein 112"""	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1328G>A	16.37:g.919971C>T	ENSP00000262301:p.Cys443Tyr					LMF1_uc010brg.2_5'Flank|LMF1_uc010brh.2_Missense_Mutation_p.C226Y|LMF1_uc010bri.2_Missense_Mutation_p.C206Y|LMF1_uc002ckk.2_Missense_Mutation_p.C226Y	p.C443Y	NM_022773	NP_073610	Q96S06	LMF1_HUMAN			9	1332	-		Hepatocellular(780;0.00308)	443			Lumenal (Potential).		Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Missense_Mutation	SNP	ENST00000262301.11	37	c.1328G>A	CCDS45373.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357579	0.61293	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.20332	2.08;2.08;2.08	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	L	0.39245	1.2	0.80722	D	1	B	0.23316	0.083	B	0.31869	0.137	T	0.05920	-1.0856	10	0.72032	D	0.01	-6.2539	17.1986	0.86900	0.0:1.0:0.0:0.0	.	443	Q96S06	LMF1_HUMAN	Y	443;443;226;197;206	ENSP00000262301:C443Y;ENSP00000382737:C443Y;ENSP00000437418:C206Y	ENSP00000262301:C443Y	C	-	2	0	LMF1	859972	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.660000	0.83776	2.406000	0.81754	0.561000	0.74099	TGC		PASS	0.662	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109071.3	NM_022773		19	30	19	30	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1394641	1394641	+	Missense_Mutation	SNP	G	G	T	rs372927860		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:1394641G>T	ENST00000324385.5	+	19	1962	c.1804G>T	c.(1804-1806)Gac>Tac	p.D602Y	BAIAP3_ENST00000421665.2_Missense_Mutation_p.D531Y|BAIAP3_ENST00000562208.1_Missense_Mutation_p.D544Y|BAIAP3_ENST00000397488.2_Missense_Mutation_p.D584Y|BAIAP3_ENST00000426824.3_Missense_Mutation_p.D567Y|BAIAP3_ENST00000568887.1_Missense_Mutation_p.D539Y|BAIAP3_ENST00000397489.1_Missense_Mutation_p.D584Y	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	602					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.D602Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGTGCTGGCTGACGCCGTCTA	0.647																																						uc002clk.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1804-1806)GAC>TAC		BAI1-associated protein 3							165.0	179.0	174.0					16																	1394641		2199	4300	6499	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1394641G>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1804G>T	16.37:g.1394641G>T	ENSP00000324510:p.Asp602Tyr					BAIAP3_uc002clj.2_Missense_Mutation_p.D584Y|BAIAP3_uc010uuz.1_Missense_Mutation_p.D567Y|BAIAP3_uc010uva.1_Missense_Mutation_p.D539Y|BAIAP3_uc010uvc.1_Missense_Mutation_p.D531Y	p.D602Y	NM_003933	NP_003924	O94812	BAIP3_HUMAN			19	1804	+		Hepatocellular(780;0.0893)	602					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.1804G>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436207	0.43224	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.59	4.24	4.24	0.50183	.	0.053440	0.64402	D	0.000001	T	0.81336	0.4801	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.998;0.996	P;D;D;P	0.65443	0.905;0.935;0.935;0.86	D	0.83371	0.0007	10	0.56958	D	0.05	-42.711	14.1081	0.65104	0.0:0.0:1.0:0.0	.	531;544;602;584	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	Y	567;584;602;584;531	ENSP00000407242:D567Y;ENSP00000380625:D584Y;ENSP00000324510:D602Y;ENSP00000380626:D584Y;ENSP00000409533:D531Y	ENSP00000324510:D602Y	D	+	1	0	BAIAP3	1334642	1.000000	0.71417	0.043000	0.18650	0.003000	0.03518	5.403000	0.66338	1.894000	0.54839	0.436000	0.28706	GAC		PASS	0.647	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			94	226	94	226	---	---	---	---
TBC1D24	57465	broad.mit.edu	37	16	2549416	2549416	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:2549416A>C	ENST00000293970.5	+	5	1334	c.1201A>C	c.(1201-1203)Aag>Cag	p.K401Q	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Missense_Mutation_p.K401Q|TBC1D24_ENST00000567020.1_Missense_Mutation_p.K395Q	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	401	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)	p.K395Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GACCACGCAGAAGGAGGTGAG	0.622																																						uc002cql.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1201-1203)AAG>CAG		TBC1 domain family, member 24							48.0	51.0	50.0					16																	2549416		2052	4192	6244	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2549416A>C	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1201A>C	16.37:g.2549416A>C	ENSP00000293970:p.Lys401Gln					TBC1D24_uc002cqk.2_Missense_Mutation_p.K395Q|TBC1D24_uc002cqm.2_Intron|TBC1D24_uc010bsm.2_Intron	p.K401Q	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			5	1341	+			401			TLD.		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.1201A>C	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689565	0.29962	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.47528	0.84	5.67	5.67	0.87782	TLDc (2);	0.162937	0.56097	D	0.000030	T	0.32406	0.0828	N	0.20574	0.59	0.34555	D	0.71174	B;B	0.19445	0.036;0.029	B;B	0.21917	0.026;0.037	T	0.41502	-0.9505	10	0.27785	T	0.31	-47.8966	10.8575	0.46808	0.8422:0.1578:0.0:0.0	.	401;395	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	Q	395;401	ENSP00000390106:K401Q	ENSP00000293970:K395Q	K	+	1	0	TBC1D24	2489417	0.907000	0.30839	0.998000	0.56505	0.981000	0.71138	1.949000	0.40313	2.163000	0.67991	0.459000	0.35465	AAG		PASS	0.622	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		6	22	6	22	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	10996530	10996530	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:10996530C>G	ENST00000324288.8	+	8	777	c.644C>G	c.(643-645)tCc>tGc	p.S215C	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.S166C	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	215					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.S215C(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TTCTCCAGTTCCTCGTTGAGC	0.512			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(643-645)TCC>TGC		class II transactivator							144.0	113.0	123.0					16																	10996530		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10996530C>G	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.644C>G	16.37:g.10996530C>G	ENSP00000316328:p.Ser215Cys					CIITA_uc002daj.3_Missense_Mutation_p.S216C|CIITA_uc002dak.3_Missense_Mutation_p.S166C|CIITA_uc002dag.2_Missense_Mutation_p.S215C|CIITA_uc002dah.2_Missense_Mutation_p.S167C|CIITA_uc010bup.1_Missense_Mutation_p.S215C	p.S215C	NM_000246	NP_000237	P33076	C2TA_HUMAN			8	777	+			215					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.644C>G	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004688	0.54254	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.75260	-0.92;1.21	4.86	4.86	0.63082	.	0.672745	0.12975	N	0.423751	D	0.83599	0.5289	M	0.64997	1.995	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;0.97;0.996;0.996;0.998;0.998	D;B;P;P;D;P	0.70487	0.969;0.339;0.885;0.885;0.946;0.847	T	0.74080	-0.3780	10	0.49607	T	0.09	.	13.5057	0.61483	0.0:1.0:0.0:0.0	.	215;166;215;215;167;215	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	C	215;166;167;215	ENSP00000316328:S215C;ENSP00000371257:S166C	ENSP00000316328:S215C	S	+	2	0	CIITA	10904031	0.010000	0.17322	0.065000	0.19835	0.003000	0.03518	1.874000	0.39568	2.238000	0.73509	0.563000	0.77884	TCC		PASS	0.512	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		30	73	30	73	---	---	---	---
LITAF	9516	broad.mit.edu	37	16	11650373	11650373	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:11650373T>A	ENST00000571688.1	-	2	444	c.214A>T	c.(214-216)Aat>Tat	p.N72Y	LITAF_ENST00000570904.1_Missense_Mutation_p.N72Y|LITAF_ENST00000413364.2_Missense_Mutation_p.N72Y|LITAF_ENST00000574763.1_Missense_Mutation_p.N72Y|LITAF_ENST00000571976.1_Missense_Mutation_p.N72Y|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000576036.1_Missense_Mutation_p.N72Y|LITAF_ENST00000571459.1_Missense_Mutation_p.N72Y|LITAF_ENST00000339430.5_Missense_Mutation_p.N72Y|LITAF_ENST00000574703.1_Missense_Mutation_p.N72Y|LITAF_ENST00000381810.3_Missense_Mutation_p.N72Y	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	72					aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.N72Y(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						GTACTTGGATTGTTATTGGGG	0.577																																						uc002daz.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(214-216)AAT>TAT		lipopolysaccharide-induced TNF-alpha factor							58.0	55.0	56.0					16																	11650373		2197	4300	6497	SO:0001583	missense	9516				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding	g.chr16:11650373T>A	AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.214A>T	16.37:g.11650373T>A	ENSP00000459533:p.Asn72Tyr					LITAF_uc002dba.2_Missense_Mutation_p.N72Y|LITAF_uc002dbb.2_Missense_Mutation_p.N72Y|LITAF_uc002dbc.2_Missense_Mutation_p.N72Y|LITAF_uc002dbd.2_Missense_Mutation_p.N72Y|LITAF_uc002dbe.3_Missense_Mutation_p.N72Y	p.N72Y	NM_004862	NP_004853	Q99732	LITAF_HUMAN			2	447	-			72					D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Missense_Mutation	SNP	ENST00000571688.1	37	c.214A>T	CCDS32386.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007762	0.54361	.	.	ENSG00000189067	ENST00000339430;ENST00000413364;ENST00000381810	D;D;D	0.87966	-2.32;-1.99;-2.22	5.39	5.39	0.77823	.	0.374516	0.26987	N	0.021491	D	0.91277	0.7250	L	0.60455	1.87	0.34155	D	0.668011	D;D;P	0.89917	1.0;0.986;0.924	D;P;P	0.91635	0.999;0.742;0.459	D	0.93843	0.7138	10	0.51188	T	0.08	-7.2235	11.8339	0.52312	0.0:0.0:0.0:1.0	.	72;72;72	Q99732-2;G5E9K0;Q99732	.;.;LITAF_HUMAN	Y	72	ENSP00000340118:N72Y;ENSP00000397958:N72Y;ENSP00000371231:N72Y	ENSP00000340118:N72Y	N	-	1	0	LITAF	11557874	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	2.825000	0.48096	2.054000	0.61138	0.533000	0.62120	AAT		PASS	0.577	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436794.2	NM_004862		8	52	8	52	---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19475265	19475265	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:19475265C>T	ENST00000396229.2	+	8	2153	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	TMC5_ENST00000564959.1_Silent_p.F151F|TMC5_ENST00000561503.1_Silent_p.F109F|TMC5_ENST00000219821.5_Silent_p.F222F|TMC5_ENST00000381414.4_Silent_p.F468F|TMC5_ENST00000541464.1_Silent_p.F468F|TMC5_ENST00000542583.2_Silent_p.F468F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	468					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F468L(1)|p.F468F(1)|p.F222L(1)|p.F222F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTGAACTTCAGCTTCATCA	0.458																																						uc002dgc.3																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)	skin(1)	1						c.(1402-1404)TTC>TTT		transmembrane channel-like 5 isoform a							128.0	113.0	118.0					16																	19475265		2197	4300	6497	SO:0001819	synonymous_variant	79838					integral to membrane		g.chr16:19475265C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1404C>T	16.37:g.19475265C>T						TMC5_uc010vaq.1_Silent_p.F468F|TMC5_uc002dgb.3_Silent_p.F468F|TMC5_uc010var.1_Silent_p.F468F|TMC5_uc002dgd.1_Silent_p.F222F|TMC5_uc002dge.3_Silent_p.F222F|TMC5_uc002dgf.3_Silent_p.F151F|TMC5_uc002dgg.3_Silent_p.F109F	p.F468F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			8	2153	+			468			Helical; (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	ENST00000396229.2	37	c.1404C>T	CCDS45431.1																																																																																				PASS	0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		8	134	8	134	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20471532	20471532	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:20471532C>A	ENST00000573854.1	+	2	210	c.96C>A	c.(94-96)tcC>tcA	p.S32S	ACSM2A_ENST00000219054.6_Silent_p.S32S|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000536134.1_De_novo_Start_OutOfFrame|ACSM2A_ENST00000575690.1_Silent_p.S32S|ACSM2A_ENST00000396104.2_Silent_p.S32S|ACSM2A_ENST00000424070.1_Silent_p.S32S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	32					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.S32S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AACTGGTGTCCCTGCAGTGGG	0.512																																						uc010bwe.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(94-96)TCC>TCA		acyl-CoA synthetase medium-chain family member							29.0	30.0	30.0					16																	20471532		2202	4280	6482	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20471532C>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.96C>A	16.37:g.20471532C>A						ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Silent_p.S32S|ACSM2A_uc002dhg.3_Silent_p.S32S|ACSM2A_uc010vay.1_Intron	p.S32S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			3	335	+			32					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.96C>A	CCDS32401.1																																																																																				PASS	0.512	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		47	78	47	78	---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23208724	23208724	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:23208724G>C	ENST00000300061.2	+	6	1196	c.1053G>C	c.(1051-1053)atG>atC	p.M351I	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	351					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.M351I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AGACAGCAATGGTCACCTCTA	0.463																																						uc002dlm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1051-1053)ATG>ATC		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						122.0	112.0	116.0					16																	23208724		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23208724G>C	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1053G>C	16.37:g.23208724G>C	ENSP00000300061:p.Met351Ile						p.M351I	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	6	1192	+			351			Extracellular (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1053G>C	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847604	0.32606	.	.	ENSG00000166828	ENST00000300061	T	0.62639	0.01	5.62	4.6	0.57074	.	0.131439	0.51477	D	0.000084	T	0.48892	0.1525	L	0.29908	0.895	0.26380	N	0.976748	B	0.24317	0.101	B	0.28916	0.096	T	0.38265	-0.9669	10	0.36615	T	0.2	-39.343	9.7148	0.40268	0.0752:0.0:0.7831:0.1417	.	351	P51170	SCNNG_HUMAN	I	351	ENSP00000300061:M351I	ENSP00000300061:M351I	M	+	3	0	SCNN1G	23116225	0.989000	0.36119	1.000000	0.80357	0.889000	0.51656	0.254000	0.18314	2.662000	0.90505	0.655000	0.94253	ATG		PASS	0.463	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		17	69	17	69	---	---	---	---
HS3ST4	9951	broad.mit.edu	37	16	26147398	26147398	+	Silent	SNP	A	A	T	rs371554362		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:26147398A>T	ENST00000331351.5	+	2	1592	c.1200A>T	c.(1198-1200)ccA>ccT	p.P400P	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	400					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.P400P(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TAAAGAAGCCAGAAGACAGCA	0.473																																						uc002dof.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|breast(1)	2						c.(1198-1200)CCA>CCT		heparan sulfate D-glucosaminyl							50.0	47.0	48.0					16																	26147398		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147398A>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1200A>T	16.37:g.26147398A>T							p.P400P	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1592	+			400			Lumenal (Potential).		Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.1200A>T	CCDS53995.1																																																																																				PASS	0.473	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		18	53	18	53	---	---	---	---
MMP15	4324	broad.mit.edu	37	16	58077461	58077461	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:58077461C>T	ENST00000219271.3	+	9	2285	c.1500C>T	c.(1498-1500)taC>taT	p.Y500Y		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	500					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y500Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	ACCCTGGGTACCCCAAGCCCA	0.617																																						uc002ena.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(1498-1500)TAC>TAT		matrix metalloproteinase 15 preproprotein							74.0	69.0	71.0					16																	58077461		2198	4300	6498	SO:0001819	synonymous_variant	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58077461C>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1500C>T	16.37:g.58077461C>T							p.Y500Y	NM_002428	NP_002419	P51511	MMP15_HUMAN			9	2473	+			500			Hemopexin-like 3.|Extracellular (Potential).		A0A2U6|Q14111	Silent	SNP	ENST00000219271.3	37	c.1500C>T	CCDS10792.1																																																																																				PASS	0.617	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		7	58	7	58	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67765377	67765377	+	Missense_Mutation	SNP	T	T	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:67765377T>G	ENST00000317506.3	-	7	1002	c.887A>C	c.(886-888)cAa>cCa	p.Q296P	RANBP10_ENST00000411657.2_Missense_Mutation_p.Q179P|RANBP10_ENST00000448631.2_Missense_Mutation_p.Q240P|RANBP10_ENST00000602677.1_Missense_Mutation_p.Q296P|RANBP10_ENST00000425512.2_Missense_Mutation_p.Q164P|RANBP10_ENST00000536251.1_Missense_Mutation_p.Q67P	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	296	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.Q296P(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AACCTTACTTTGTCTGTTCTT	0.488																																						uc002eud.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(886-888)CAA>CCA		RAN binding protein 10							177.0	163.0	168.0					16																	67765377		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67765377T>G	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.887A>C	16.37:g.67765377T>G	ENSP00000316589:p.Gln296Pro					RANBP10_uc010ceo.2_Missense_Mutation_p.Q67P|RANBP10_uc010vju.1_Missense_Mutation_p.Q240P|RANBP10_uc010vjv.1_Missense_Mutation_p.Q179P|RANBP10_uc010vjw.1_5'Flank|RANBP10_uc010vjx.1_Missense_Mutation_p.Q296P|RANBP10_uc010vjy.1_Missense_Mutation_p.Q164P	p.Q296P	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	7	1003	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	296			CTLH.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.887A>C	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740833	0.89573	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657;ENST00000425512	D	0.90069	-2.61	5.78	5.78	0.91487	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	M	0.87269	2.87	0.80722	D	1	D;D;B;D;P	0.89917	1.0;1.0;0.432;0.999;0.935	D;D;P;D;P	0.83275	0.979;0.993;0.547;0.996;0.824	D	0.95391	0.8481	10	0.56958	D	0.05	-19.3004	15.773	0.78187	0.0:0.0:0.0:1.0	.	164;296;179;240;296	B4DHL9;B4E1Y2;B4DID0;B4DQH9;Q6VN20	.;.;.;.;RBP10_HUMAN	P	296;240;67;179;164	ENSP00000410617:Q164P	ENSP00000316589:Q296P	Q	-	2	0	RANBP10	66322878	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.957000	0.87870	2.207000	0.71202	0.460000	0.39030	CAA		PASS	0.488	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		17	68	17	68	---	---	---	---
DPEP3	64180	broad.mit.edu	37	16	68012234	68012234	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:68012234G>A	ENST00000268793.4	-	4	1070	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	208					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.L233L(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AAACTGCGCAGCACAGAGAGG	0.552																																						uc002evc.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(697-699)CTG>TTG		dipeptidase 3 isoform a							91.0	87.0	89.0					16																	68012234		2198	4300	6498	SO:0001819	synonymous_variant	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68012234G>A	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.697C>T	16.37:g.68012234G>A						DPEP3_uc010cex.2_Silent_p.L233L	p.L233L	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	4	791	-		Ovarian(137;0.192)	208					B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	ENST00000268793.4	37	c.697C>T	CCDS10856.1																																																																																				PASS	0.552	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		10	97	10	97	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68835620	68835620	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:68835620C>T	ENST00000261769.5	+	3	402	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	CDH1_ENST00000422392.2_Missense_Mutation_p.L71F|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	71				SL -> P (in Ref. 3; AAA61259). {ECO:0000305}.	adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.L71F(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTATTTTTCCCTCGACACCCG	0.458			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		3	Unknown(2)|Substitution - Missense(1)		breast(2)|lung(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(211-213)CTC>TTC		cadherin 1, type 1 preproprotein							182.0	167.0	172.0					16																	68835620		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68835620C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.211C>T	16.37:g.68835620C>T	ENSP00000261769:p.Leu71Phe					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.L71F	p.L71F	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	3	335	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	71	SL -> P (in Ref. 3; AAA61259).				A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.211C>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.272729	0.23221	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.60797	0.16;0.16	5.43	1.12	0.20585	Cadherin prodomain-like (1);Cadherin-like (1);	0.782028	0.11061	N	0.604008	T	0.35711	0.0941	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.085;0.083	B;B	0.31337	0.128;0.1	T	0.35151	-0.9800	10	0.72032	D	0.01	.	4.3027	0.10932	0.1431:0.1271:0.6026:0.1273	.	71;71	Q9UII8;P12830	.;CADH1_HUMAN	F	71	ENSP00000261769:L71F;ENSP00000414946:L71F	ENSP00000261769:L71F	L	+	1	0	CDH1	67393121	0.006000	0.16342	0.000000	0.03702	0.464000	0.32679	0.685000	0.25378	0.065000	0.16485	-0.270000	0.10280	CTC		PASS	0.458	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		41	198	41	198	---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563353	75563353	+	Nonsense_Mutation	SNP	G	G	C	rs146332168	byFrequency	TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:75563353G>C	ENST00000336257.3	-	3	2324	c.930C>G	c.(928-930)taC>taG	p.Y310*	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Nonsense_Mutation_p.Y316*	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	310					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.Y310*(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CGGTGAAGGCGTAGAGTGCGC	0.677																																						uc002fei.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(928-930)TAC>TAG		carbohydrate (N-acetylglucosamine 6-O)							65.0	67.0	66.0					16																	75563353		2196	4300	6496	SO:0001587	stop_gained	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563353G>C	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.930C>G	16.37:g.75563353G>C	ENSP00000338783:p.Tyr310*					CHST5_uc002fej.1_Nonsense_Mutation_p.Y316*	p.Y310*	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	2325	-			310			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Nonsense_Mutation	SNP	ENST00000336257.3	37	c.930C>G	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423602	0.25639	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	.	.	.	2.84	-0.598	0.11649	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2242	0.26005	0.6388:0.0:0.3612:0.0	.	.	.	.	X	310;316	.	ENSP00000338783:Y310X	Y	-	3	2	CHST5	74120854	0.000000	0.05858	0.987000	0.45799	0.145000	0.21501	-0.258000	0.08733	-0.222000	0.09958	0.313000	0.20887	TAC		PASS	0.677	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		17	86	17	86	---	---	---	---
BCO1	53630	broad.mit.edu	37	16	81314536	81314536	+	Silent	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:81314536A>G	ENST00000258168.2	+	8	1637	c.1176A>G	c.(1174-1176)caA>caG	p.Q392Q	BCMO1_ENST00000425577.2_Silent_p.Q323Q	NM_017429.2	NP_059125.2												p.Q392Q(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AAGATGGCCAAGTCTACTGCC	0.443																																						uc002fgn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1174-1176)CAA>CAG		beta-carotene 15,15'-monooxygenase							73.0	72.0	72.0					16																	81314536		2202	4300	6502	SO:0001819	synonymous_variant	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81314536A>G																												ENST00000258168.2:c.1176A>G	16.37:g.81314536A>G						BCMO1_uc010vnp.1_Silent_p.Q323Q	p.Q392Q	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN			8	1394	+			392						Silent	SNP	ENST00000258168.2	37	c.1176A>G	CCDS10934.1																																																																																				PASS	0.443	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			4	57	4	57	---	---	---	---
DPEP1	1800	broad.mit.edu	37	16	89704357	89704357	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr16:89704357G>T	ENST00000393092.3	+	10	1334	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	DPEP1_ENST00000421184.1_Missense_Mutation_p.R348M|DPEP1_ENST00000261615.4_Missense_Mutation_p.R348M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	348					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.R348M(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AACCTGCTGAGGGTCTTCGAG	0.642																																						uc010cin.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1042-1044)AGG>ATG		dipeptidase 1 precursor	Cilastatin(DB01597)						80.0	83.0	82.0					16																	89704357		2183	4292	6475	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89704357G>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.1043G>T	16.37:g.89704357G>T	ENSP00000376807:p.Arg348Met					DPEP1_uc002fnr.3_Missense_Mutation_p.R348M|DPEP1_uc002fns.3_Missense_Mutation_p.R348M	p.R348M	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	10	1246	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	348					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.1043G>T	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	g	19.37	3.814325	0.70912	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.38722	1.12;1.12;1.12	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	H	0.98295	4.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.87765	0.2601	10	0.87932	D	0	-18.8128	19.0565	0.93067	0.0:0.0:1.0:0.0	.	348	P16444	DPEP1_HUMAN	M	348	ENSP00000397313:R348M;ENSP00000376807:R348M;ENSP00000261615:R348M	ENSP00000261615:R348M	R	+	2	0	DPEP1	88231858	0.992000	0.36948	0.903000	0.35520	0.267000	0.26476	6.426000	0.73374	2.601000	0.87937	0.556000	0.70494	AGG		PASS	0.642	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		4	25	4	25	---	---	---	---
PITPNA	5306	broad.mit.edu	37	17	1438521	1438521	+	Missense_Mutation	SNP	G	G	C	rs192122018		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:1438521G>C	ENST00000313486.7	-	9	855	c.600C>G	c.(598-600)ttC>ttG	p.F200L	PITPNA_ENST00000539476.1_Missense_Mutation_p.F200L	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	200					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)	p.F200L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CCCACCACTTGAACTTGACGG	0.502																																						uc002fst.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)TTC>TTG		phosphatidylinositol transfer protein, alpha							122.0	122.0	122.0					17																	1438521		2025	4205	6230	SO:0001583	missense	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1438521G>C	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.600C>G	17.37:g.1438521G>C	ENSP00000316809:p.Phe200Leu					PITPNA_uc010cjt.2_Missense_Mutation_p.F84L|PITPNA_uc010cju.2_Missense_Mutation_p.F98L	p.F200L	NM_006224	NP_006215	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	8	856	-			200						Missense_Mutation	SNP	ENST00000313486.7	37	c.600C>G	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738359	0.89573	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	T;T	0.55760	0.5;0.5	6.07	5.1	0.69264	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	H	0.96720	3.87	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.76071	0.98;0.987	D	0.87592	0.2491	10	0.87932	D	0	.	14.2825	0.66221	0.0717:0.0:0.9283:0.0	.	127;200	B4E1U1;Q00169	.;PIPNA_HUMAN	L	200;200;127	ENSP00000441869:F200L;ENSP00000316809:F200L	ENSP00000316809:F200L	F	-	3	2	PITPNA	1385271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.062000	0.64326	1.577000	0.49804	0.655000	0.94253	TTC		PASS	0.502	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			18	85	18	85	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	94.0	97.0					17																	7578190		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.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	p.Y220C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		PASS	0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	42	19	42	---	---	---	---
TRIM16	10626	broad.mit.edu	37	17	15532053	15532053	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:15532053C>T	ENST00000578237.1	-	11	2426	c.1571G>A	c.(1570-1572)tGc>tAc	p.C524Y	RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Missense_Mutation_p.C308Y|TRIM16_ENST00000416464.2_Missense_Mutation_p.C394Y|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Missense_Mutation_p.C524Y			O95361	TRI16_HUMAN	tripartite motif containing 16	524	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)	p.C524Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGAAAATTTGCAGGCAAACTT	0.517																																						uc002gox.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1570-1572)TGC>TAC		tripartite motif-containing 16							73.0	72.0	73.0					17																	15532053		2203	4300	6503	SO:0001583	missense	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15532053C>T	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1571G>A	17.37:g.15532053C>T	ENSP00000463188:p.Cys524Tyr					TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.2_Missense_Mutation_p.C308Y|TRIM16_uc002goy.2_Missense_Mutation_p.C394Y	p.C524Y	NM_006470	NP_006461	O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	9	2128	-			524			B30.2/SPRY.		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1571G>A	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	18.23	3.578413	0.65878	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.69306	-0.39;-0.39	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.76962	0.4061	L	0.53561	1.675	0.36726	D	0.881455	D;D	0.67145	0.996;0.996	P;D	0.66196	0.877;0.942	T	0.82499	-0.0427	9	0.66056	D	0.02	.	15.5482	0.76126	0.0:1.0:0.0:0.0	.	394;524	B3KP96;O95361	.;TRI16_HUMAN	Y	524;394	ENSP00000338989:C524Y;ENSP00000399918:C394Y	ENSP00000338989:C524Y	C	-	2	0	TRIM16	15472778	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.367000	0.59498	2.335000	0.79485	0.650000	0.86243	TGC		PASS	0.517	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		5	126	5	126	---	---	---	---
HEATR9	256957	broad.mit.edu	37	17	34182401	34182401	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:34182401A>T	ENST00000311880.2	-	15	1527	c.1379T>A	c.(1378-1380)tTa>tAa	p.L460*	C17orf66_ENST00000592980.1_Nonsense_Mutation_p.L420*	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		460					hematopoietic progenitor cell differentiation (GO:0002244)			p.L460*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ACAAAGGATTAATGTTTCTTG	0.493																																						uc002hke.1																			1	Substitution - Nonsense(1)		lung(1)	breast(2)|skin(1)	3						c.(1378-1380)TTA>TAA		hypothetical protein LOC256957							61.0	57.0	58.0					17																	34182401		2203	4300	6503	SO:0001587	stop_gained	256957						binding	g.chr17:34182401A>T																												ENST00000311880.2:c.1379T>A	17.37:g.34182401A>T	ENSP00000309560:p.Leu460*					C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Nonsense_Mutation_p.L420*	p.L460*	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	15	1528	-		Ovarian(249;0.17)	460					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Nonsense_Mutation	SNP	ENST00000311880.2	37	c.1379T>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	A	35	5.425232	0.96131	.	.	ENSG00000172653	ENST00000311880	.	.	.	4.08	4.08	0.47627	.	0.000000	0.28225	N	0.016137	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6095	0.39654	1.0:0.0:0.0:0.0	.	.	.	.	X	460	.	ENSP00000309560:L460X	L	-	2	0	C17orf66	31206514	1.000000	0.71417	0.734000	0.30879	0.896000	0.52359	3.807000	0.55591	1.836000	0.53414	0.460000	0.39030	TTA		PASS	0.493	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			41	75	41	75	---	---	---	---
CDC6	990	broad.mit.edu	37	17	38451705	38451705	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:38451705G>A	ENST00000209728.4	+	8	1652	c.1181G>A	c.(1180-1182)tGc>tAc	p.C394Y		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	394					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)	p.C394Y(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTGGATGTTTGCAGGTGAGTT	0.403																																						uc002huj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1180-1182)TGC>TAC		cell division cycle 6 protein							178.0	158.0	165.0					17																	38451705		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38451705G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1181G>A	17.37:g.38451705G>A	ENSP00000209728:p.Cys394Tyr						p.C394Y	NM_001254	NP_001245	Q99741	CDC6_HUMAN			8	1391	+			394					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1181G>A	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335266	0.81801	.	.	ENSG00000094804	ENST00000209728	T	0.41400	1.0	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.82849	-0.0254	10	0.87932	D	0	-6.0697	19.185	0.93639	0.0:0.0:1.0:0.0	.	394	Q99741	CDC6_HUMAN	Y	394	ENSP00000209728:C394Y	ENSP00000209728:C394Y	C	+	2	0	CDC6	35705231	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.582000	0.90791	2.835000	0.97688	0.591000	0.81541	TGC		PASS	0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			66	116	66	116	---	---	---	---
KRTAP1-3	81850	broad.mit.edu	37	17	39190672	39190672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:39190672G>T	ENST00000344363.5	-	1	435	c.402C>A	c.(400-402)tgC>tgA	p.C134*		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	144						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.C134*(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGTGCAGCTGGCAGCAGGTTG	0.672																																						uc002hvv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(400-402)TGC>TGA		keratin associated protein 1-3							27.0	34.0	32.0					17																	39190672		2079	4199	6278	SO:0001587	stop_gained	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190672G>T	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.402C>A	17.37:g.39190672G>T	ENSP00000344420:p.Cys134*						p.C134*	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	436	-		Breast(137;0.000496)	144					Q07628|Q8IUG0|Q9BYS2	Nonsense_Mutation	SNP	ENST00000344363.5	37	c.402C>A	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696297	0.88830	.	.	ENSG00000221880	ENST00000344363	.	.	.	4.52	3.54	0.40534	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9455	0.35756	0.1068:0.0:0.8932:0.0	.	.	.	.	X	134	.	ENSP00000344420:C134X	C	-	3	2	KRTAP1-3	36444198	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.992000	0.40737	1.201000	0.43203	0.643000	0.83706	TGC		PASS	0.672	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			24	39	24	39	---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39975846	39975846	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:39975846C>A	ENST00000321562.4	+	6	1086	c.982C>A	c.(982-984)Cag>Aag	p.Q328K	FKBP10_ENST00000544340.1_Missense_Mutation_p.Q40K	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	328	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.Q328K(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CGGGATGGACCAGGGGCTGCA	0.617																																						uc002hxv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(982-984)CAG>AAG		FK506 binding protein 10 precursor							47.0	43.0	45.0					17																	39975846		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39975846C>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.982C>A	17.37:g.39975846C>A	ENSP00000317232:p.Gln328Lys					FKBP10_uc002hxw.1_Missense_Mutation_p.Q31K	p.Q328K	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	6	1307	+		Breast(137;0.00122)	328			PPIase FKBP-type 3.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.982C>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738373	0.30774	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340	D;D	0.86030	-2.06;-2.06	5.62	5.62	0.85841	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.240515	0.35585	N	0.003115	T	0.66761	0.2822	N	0.05608	-0.01	0.25346	N	0.988909	B;B	0.16166	0.003;0.016	B;B	0.18871	0.023;0.023	T	0.49862	-0.8894	10	0.02654	T	1	-22.434	10.9999	0.47600	0.143:0.7186:0.1383:0.0	.	40;328	Q9H6J3;Q96AY3	.;FKB10_HUMAN	K	216;328;328;40	ENSP00000317232:Q328K;ENSP00000442009:Q40K	ENSP00000269598:Q216K	Q	+	1	0	FKBP10	37229372	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.177000	0.31969	2.651000	0.90000	0.561000	0.74099	CAG		PASS	0.617	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		8	22	8	22	---	---	---	---
NSF	4905	broad.mit.edu	37	17	44770427	44770427	+	Silent	SNP	A	A	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:44770427A>C	ENST00000398238.4	+	10	1211	c.1104A>C	c.(1102-1104)ctA>ctC	p.L368L	NSF_ENST00000225282.8_Silent_p.L274L|NSF_ENST00000575068.1_Silent_p.L363L	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	368					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)	p.L368L(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		ACAACATCCTAGTCATTGGTA	0.393																																					Ovarian(25;472 742 1472 36813 50223)	uc002iku.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1102-1104)CTA>CTC		vesicle-fusing ATPase							86.0	83.0	84.0					17																	44770427		1926	4137	6063	SO:0001819	synonymous_variant	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44770427A>C		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1104A>C	17.37:g.44770427A>C						NSF_uc010wke.1_Silent_p.L274L|NSF_uc010wkf.1_Silent_p.L274L|NSF_uc010wkg.1_Silent_p.L363L	p.L368L	NM_006178	NP_006169	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	10	1208	+		Melanoma(429;0.203)	368					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	ENST00000398238.4	37	c.1104A>C	CCDS42354.1																																																																																				PASS	0.393	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		18	140	18	140	---	---	---	---
ANKRD40	91369	broad.mit.edu	37	17	48777095	48777095	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:48777095G>A	ENST00000285243.6	-	3	712	c.443C>T	c.(442-444)cCc>cTc	p.P148L	Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	148	Pro-rich.							p.P148L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GGGTGTGGAGGGGCCCCCATT	0.582																																						uc002iso.2																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)CCC>CTC		ankyrin repeat domain 40							48.0	56.0	53.0					17																	48777095		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48777095G>A	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.443C>T	17.37:g.48777095G>A	ENSP00000285243:p.Pro148Leu						p.P148L	NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		3	698	-			148			Pro-rich.		Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.443C>T	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772108	0.49680	.	.	ENSG00000154945	ENST00000285243	T	0.22945	1.93	5.21	5.21	0.72293	.	0.550476	0.19814	N	0.105463	T	0.22126	0.0533	L	0.43152	1.355	0.39329	D	0.965387	B	0.02656	0.0	B	0.04013	0.001	T	0.04360	-1.0957	10	0.25106	T	0.35	-3.2555	12.0915	0.53728	0.125:0.0:0.875:0.0	.	148	Q6AI12	ANR40_HUMAN	L	148	ENSP00000285243:P148L	ENSP00000285243:P148L	P	-	2	0	ANKRD40	46132094	0.988000	0.35896	1.000000	0.80357	0.909000	0.53808	2.739000	0.47409	2.598000	0.87819	0.650000	0.86243	CCC		PASS	0.582	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		38	80	38	80	---	---	---	---
NUP85	79902	broad.mit.edu	37	17	73230817	73230817	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:73230817G>A	ENST00000245544.4	+	17	1772	c.1701G>A	c.(1699-1701)cgG>cgA	p.R567R	NUP85_ENST00000579298.1_Silent_p.R522R|NUP85_ENST00000579324.1_Silent_p.R455R|NUP85_ENST00000447371.2_Silent_p.R399R|NUP85_ENST00000541827.1_Silent_p.R521R|NUP85_ENST00000540768.1_Silent_p.R170R	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	567					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.R567R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGACGTCTCGGATTGCCCCTC	0.522																																						uc002jng.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1699-1701)CGG>CGA		nucleoporin 85							214.0	185.0	195.0					17																	73230817		2203	4300	6503	SO:0001819	synonymous_variant	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73230817G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1701G>A	17.37:g.73230817G>A						NUP85_uc010dgd.1_Silent_p.R522R|NUP85_uc010wrv.1_Silent_p.R521R|NUP85_uc002jnh.1_Silent_p.R170R	p.R567R	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		17	1961	+	all_lung(278;0.14)|Lung NSC(278;0.168)		567					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	c.1701G>A	CCDS32730.1																																																																																				PASS	0.522	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		9	268	9	268	---	---	---	---
NUP85	79902	broad.mit.edu	37	17	73230872	73230872	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr17:73230872G>A	ENST00000245544.4	+	17	1827	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	NUP85_ENST00000579298.1_Missense_Mutation_p.E541K|NUP85_ENST00000579324.1_Missense_Mutation_p.E474K|NUP85_ENST00000447371.2_Missense_Mutation_p.E418K|NUP85_ENST00000541827.1_Missense_Mutation_p.E540K|NUP85_ENST00000540768.1_Missense_Mutation_p.E189K	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	586					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.E586K(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GCCCCTTTTGGAACAGAAACA	0.517																																						uc002jng.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1756-1758)GAA>AAA		nucleoporin 85							155.0	147.0	150.0					17																	73230872		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73230872G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1756G>A	17.37:g.73230872G>A	ENSP00000245544:p.Glu586Lys					NUP85_uc010dgd.1_Missense_Mutation_p.E541K|NUP85_uc010wrv.1_Missense_Mutation_p.E540K|NUP85_uc002jnh.1_Missense_Mutation_p.E189K	p.E586K	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		17	2016	+	all_lung(278;0.14)|Lung NSC(278;0.168)		586					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.1756G>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	35	5.434344	0.96150	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84524	0.5491	M	0.86420	2.815	0.80722	D	1	D;D	0.76494	0.999;0.984	D;P	0.72625	0.978;0.902	D	0.83571	0.0112	9	0.38643	T	0.18	-23.6022	20.0787	0.97763	0.0:0.0:1.0:0.0	.	540;586	B4DMQ3;Q9BW27	.;NUP85_HUMAN	K	586;540;418;189	.	ENSP00000245544:E586K	E	+	1	0	NUP85	70742467	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.201000	0.95017	2.757000	0.94681	0.462000	0.41574	GAA		PASS	0.517	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		8	215	8	215	---	---	---	---
MBD3L1	85509	broad.mit.edu	37	19	8953366	8953366	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:8953366T>A	ENST00000595891.1	+	3	243	c.12T>A	c.(10-12)agT>agA	p.S4R	MBD3L1_ENST00000305625.2_Missense_Mutation_p.S4R			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	4	Transcription repressor.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S4R(1)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						TGGCCAAGAGTTCACAGAGGA	0.423																																						uc002mko.2																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)AGT>AGA		methyl-CpG binding domain protein 3-like							105.0	99.0	101.0					19																	8953366		2203	4300	6503	SO:0001583	missense	85509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:8953366T>A	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.12T>A	19.37:g.8953366T>A	ENSP00000471575:p.Ser4Arg						p.S4R	NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN			1	98	+			4			Transcription repressor.		B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	37	c.12T>A	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	T	9.124	1.009809	0.19277	.	.	ENSG00000170948	ENST00000305625	T	0.45276	0.9	4.03	3.01	0.34805	.	0.818223	0.09959	N	0.733687	T	0.30916	0.0780	L	0.35854	1.095	0.20307	N	0.999917	B	0.29432	0.244	B	0.29267	0.1	T	0.22695	-1.0209	10	0.29301	T	0.29	-25.2213	6.1844	0.20490	0.0:0.1136:0.0:0.8864	.	4	Q8WWY6	MB3L1_HUMAN	R	4	ENSP00000304198:S4R	ENSP00000304198:S4R	S	+	3	2	MBD3L1	8814366	0.839000	0.29477	0.304000	0.25085	0.264000	0.26372	1.604000	0.36804	0.886000	0.36113	0.533000	0.62120	AGT		PASS	0.423	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208		25	57	25	57	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9578580	9578580	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:9578580T>A	ENST00000301480.4	-	10	1256	c.1043A>T	c.(1042-1044)tAt>tTt	p.Y348F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	348					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.Y348F(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTTACATTCATAGGGGTTTTT	0.368																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1042-1044)TAT>TTT		zinc finger protein 560							181.0	168.0	172.0					19																	9578580		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578580T>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1043A>T	19.37:g.9578580T>A	ENSP00000301480:p.Tyr348Phe					ZNF560_uc010dwr.1_Missense_Mutation_p.Y242F	p.Y348F	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1253	-			348			C2H2-type 2.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1043A>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536094	0.27475	.	.	ENSG00000198028	ENST00000301480	T	0.07444	3.19	1.94	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	L	0.48260	1.515	0.09310	N	1	P	0.40931	0.733	B	0.38985	0.287	T	0.27706	-1.0066	9	0.44086	T	0.13	.	4.1702	0.10326	0.3101:0.0:0.0:0.6899	.	348	Q96MR9	ZN560_HUMAN	F	348	ENSP00000301480:Y348F	ENSP00000301480:Y348F	Y	-	2	0	ZNF560	9439580	0.008000	0.16893	0.034000	0.17996	0.023000	0.10783	-0.215000	0.09279	1.136000	0.42199	0.402000	0.26972	TAT		PASS	0.368	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		46	182	46	182	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10157507	10157507	+	RNA	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:10157507A>T	ENST00000495140.1	+	0	1106							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)	p.S21C(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TCTGCCAAAGAGTAAATCGGG	0.527																																						uc010dwx.1																			1	Substitution - Missense(1)		lung(1)		0								Synthetic construct DNA, clone: pF1KB7402, Homo sapiens LOC388503 gene, without stop codon, in Flexi system.							82.0	85.0	84.0					19																	10157507		1984	4170	6154			388503							g.chr19:10157507A>T	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10157507A>T								NR_027300						9		+									RNA	SNP	ENST00000495140.1	37	c.1341A>T																																																																																					PASS	0.527	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		19	47	19	47	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19349112	19349112	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:19349112C>T	ENST00000252575.6	+	11	3400	c.3301C>T	c.(3301-3303)Cgc>Tgc	p.R1101C	NCAN_ENST00000538881.1_Missense_Mutation_p.R552C	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1101	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R1101C(1)|p.R1115C(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCACTGTTACCGCTATTTTGC	0.657																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(3301-3303)CGC>TGC		chondroitin sulfate proteoglycan 3 precursor							56.0	59.0	58.0					19																	19349112		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19349112C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3301C>T	19.37:g.19349112C>T	ENSP00000252575:p.Arg1101Cys					NCAN_uc010ecc.1_Missense_Mutation_p.R665C|NCAN_uc002nma.2_5'Flank	p.R1101C	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3400	+			1101			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3301C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976012	0.74360	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.18502	2.21;2.21	4.75	4.75	0.60458	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.39759	N	0.001280	T	0.51227	0.1662	M	0.92738	3.34	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.986	T	0.63945	-0.6522	10	0.87932	D	0	.	15.3064	0.73995	0.0:1.0:0.0:0.0	.	1115;1101	Q4LE67;O14594	.;NCAN_HUMAN	C	1115;1101;552	ENSP00000252575:R1101C;ENSP00000442202:R552C	ENSP00000252575:R1101C	R	+	1	0	NCAN	19210112	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	0.807000	0.27140	2.464000	0.83262	0.561000	0.74099	CGC		PASS	0.657	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		53	93	53	93	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22171626	22171626	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:22171626C>G	ENST00000397126.4	-	2	237	c.89G>C	c.(88-90)aGa>aCa	p.R30T	ZNF208_ENST00000599916.1_Missense_Mutation_p.R30T|ZNF208_ENST00000601773.1_Missense_Mutation_p.R30T|ZNF208_ENST00000597040.1_5'UTR	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R30T(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)				CATCACATTTCTATATAAATT	0.413																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(88-90)AGA>ACA		zinc finger protein 208							138.0	148.0	144.0					19																	22171626		2203	4299	6502	SO:0001583	missense	7757							g.chr19:22171626C>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.89G>C	19.37:g.22171626C>G	ENSP00000380315:p.Arg30Thr					ZNF208_uc002nqo.1_Missense_Mutation_p.R30T|ZNF208_uc002nqq.2_RNA	p.R30T	NM_007153	NP_009084					2	238	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.89G>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460229	0.26248	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.02709	4.19	1.32	0.18	0.15068	Krueppel-associated box (4);	.	.	.	.	T	0.07279	0.0184	.	.	.	0.09310	N	1	D;D	0.63046	0.992;0.963	D;P	0.65233	0.933;0.653	T	0.33777	-0.9855	8	0.48119	T	0.1	.	2.978	0.05943	0.0:0.6624:0.0:0.3376	.	30;30	O43345;F8WEA0	ZN208_HUMAN;.	T	30	ENSP00000380315:R30T	ENSP00000380315:R30T	R	-	2	0	ZNF208	21963466	0.003000	0.15002	0.003000	0.11579	0.743000	0.42351	-0.001000	0.12947	0.636000	0.30508	0.281000	0.19383	AGA		PASS	0.413	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		98	188	98	188	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941436	22941436	+	Missense_Mutation	SNP	G	G	C	rs375802610		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:22941436G>C	ENST00000596209.1	-	4	1365	c.1275C>G	c.(1273-1275)tgC>tgG	p.C425W	ZNF99_ENST00000397104.3_Missense_Mutation_p.C334W	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	425					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.C334W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTCACATTTGCAGGGTTTCT	0.378																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1000-1002)TGC>TGG		zinc finger protein 99							47.0	48.0	48.0					19																	22941436		2012	4208	6220	SO:0001583	missense	7652							g.chr19:22941436G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1275C>G	19.37:g.22941436G>C	ENSP00000472969:p.Cys425Trp						p.C334W	NM_001080409	NP_001073878					5	1002	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1002C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	4.028	0.002729	0.07866	.	.	ENSG00000213973	ENST00000397104	T	0.15017	2.46	1.28	-1.96	0.07525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11623	0.0283	N	0.25647	0.755	0.09310	N	1	P	0.37864	0.61	B	0.39258	0.295	T	0.22730	-1.0208	9	0.87932	D	0	.	6.74	0.23431	0.3806:0.0:0.6194:0.0	.	334	A8MXY4	ZNF99_HUMAN	W	334	ENSP00000380293:C334W	ENSP00000380293:C334W	C	-	3	2	ZNF99	22733276	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.013000	0.13310	-0.623000	0.05618	0.395000	0.25975	TGC		PASS	0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		45	66	45	66	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31768009	31768009	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:31768009T>A	ENST00000240587.4	-	2	3017	c.2690A>T	c.(2689-2691)aAc>aTc	p.N897I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	897					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N714I(1)|p.N897I(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGGTTCCAGTTTGACTGGCG	0.622																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2689-2691)AAC>ATC		zinc finger protein 537							32.0	33.0	32.0					19																	31768009		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768009T>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2690A>T	19.37:g.31768009T>A	ENSP00000240587:p.Asn897Ile						p.N897I	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2755	-	Esophageal squamous(110;0.226)		897			Homeobox; atypical.		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2690A>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	18.22	3.575038	0.65878	.	.	ENSG00000121297	ENST00000240587	D	0.91464	-2.85	5.39	4.38	0.52667	Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	L	0.58810	1.83	0.80722	D	1	P	0.52316	0.952	P	0.52267	0.694	D	0.90733	0.4644	10	0.87932	D	0	-44.391	11.1724	0.48579	0.0:0.0723:0.0:0.9277	.	897	Q63HK5	TSH3_HUMAN	I	897	ENSP00000240587:N897I	ENSP00000240587:N897I	N	-	2	0	TSHZ3	36459849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	0.880000	0.35969	0.482000	0.46254	AAC		PASS	0.622	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		20	39	20	39	---	---	---	---
CHST8	64377	broad.mit.edu	37	19	34263302	34263302	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:34263302C>A	ENST00000262622.4	+	4	1367	c.609C>A	c.(607-609)tcC>tcA	p.S203S	CHST8_ENST00000438847.3_Silent_p.S203S|CHST8_ENST00000434302.1_Silent_p.S203S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	203					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.S203S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCGGCTGCTCCAATTGGAAGC	0.687																																						uc002nus.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(607-609)TCC>TCA		carbohydrate (N-acetylgalactosamine 4-0)							41.0	41.0	41.0					19																	34263302		2201	4298	6499	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263302C>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.609C>A	19.37:g.34263302C>A						CHST8_uc002nut.3_Silent_p.S203S|CHST8_uc002nuu.2_Silent_p.S203S	p.S203S	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1114	+	Esophageal squamous(110;0.162)		203			PAPS (By similarity).|Lumenal (Potential).		Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.609C>A	CCDS12433.1																																																																																				PASS	0.687	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		43	46	43	46	---	---	---	---
ZNF599	148103	broad.mit.edu	37	19	35250252	35250252	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:35250252G>C	ENST00000329285.8	-	4	1827	c.1454C>G	c.(1453-1455)gCa>gGa	p.A485G		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	485					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.A485G(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAAGGCTTTTGCACATTCTTT	0.428																																						uc010edn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1453-1455)GCA>GGA		zinc finger protein 599							124.0	126.0	125.0					19																	35250252		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250252G>C	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1454C>G	19.37:g.35250252G>C	ENSP00000333802:p.Ala485Gly					ZNF599_uc010edm.1_Missense_Mutation_p.A448G	p.A485G	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1842	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		485			C2H2-type 11.		Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.1454C>G	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.205184	0.01568	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.07800	3.16	2.67	-2.98	0.05513	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00029	-2.625	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.49934	-0.8886	9	0.02654	T	1	.	6.9699	0.24642	0.0:0.4604:0.229:0.3105	.	485	Q96NL3	ZN599_HUMAN	G	484;485;259	ENSP00000333802:A485G	ENSP00000333802:A485G	A	-	2	0	ZNF599	39942092	0.001000	0.12720	0.785000	0.31869	0.942000	0.58702	-0.074000	0.11450	-0.474000	0.06862	-0.274000	0.10170	GCA		PASS	0.428	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		32	284	32	284	---	---	---	---
FFAR3	2865	broad.mit.edu	37	19	35850518	35850518	+	Missense_Mutation	SNP	C	C	A	rs147416906		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:35850518C>A	ENST00000327809.4	+	2	927	c.726C>A	c.(724-726)aaC>aaA	p.N242K	FFAR3_ENST00000594310.1_Missense_Mutation_p.N242K	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	242					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.N242N(1)|p.N242K(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGCCCTACAACGTGTCCCATG	0.632																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)		0						c.(724-726)AAC>AAA		free fatty acid receptor 3							172.0	130.0	144.0					19																	35850518		2201	4297	6498	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850518C>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.726C>A	19.37:g.35850518C>A	ENSP00000328230:p.Asn242Lys					FFAR3_uc010xsu.1_Intron	p.N242K	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	801	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		242			Helical; Name=6; (Potential).		B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.726C>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	c	12.39	1.924727	0.34002	.	.	ENSG00000185897	ENST00000327809	T	0.38401	1.14	5.13	-8.3	0.01005	GPCR, rhodopsin-like superfamily (1);	0.162162	0.52532	U	0.000074	T	0.58293	0.2112	M	0.88906	2.99	0.21064	N	0.999797	D	0.89917	1.0	D	0.83275	0.996	T	0.64778	-0.6327	10	0.72032	D	0.01	-9.1882	16.1295	0.81418	0.0:0.2059:0.0:0.7941	.	242	O14843	FFAR3_HUMAN	K	242	ENSP00000328230:N242K	ENSP00000328230:N242K	N	+	3	2	FFAR3	40542358	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.239000	0.08965	-1.659000	0.01488	-0.372000	0.07161	AAC		PASS	0.632	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		58	181	58	181	---	---	---	---
ZNF260	339324	broad.mit.edu	37	19	37005989	37005989	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:37005989C>A	ENST00000523638.1	-	3	1273	c.152G>T	c.(151-153)gGa>gTa	p.G51V	ZNF260_ENST00000592282.1_Missense_Mutation_p.G51V|ZNF260_ENST00000588993.1_Missense_Mutation_p.G51V|ZNF260_ENST00000593142.1_Missense_Mutation_p.G51V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	51					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G51V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AGATTTCTCTCCAGTATGCAT	0.368																																						uc002oee.1																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)GGA>GTA		zinc finger protein 260							146.0	138.0	141.0					19																	37005989		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005989C>A	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.152G>T	19.37:g.37005989C>A	ENSP00000429803:p.Gly51Val					ZNF260_uc002oed.1_Missense_Mutation_p.G48V|ZNF260_uc010eey.1_Missense_Mutation_p.G48V|ZNF260_uc002oef.1_Missense_Mutation_p.G48V	p.G51V	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	996	-	Esophageal squamous(110;0.162)		51					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.152G>T	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	C	8.456	0.854228	0.17106	.	.	ENSG00000254004	ENST00000523638	T	0.23552	1.9	4.32	-1.13	0.09775	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	M	0.87900	2.915	0.47994	D	0.999567	B	0.25955	0.138	B	0.21546	0.035	T	0.22626	-1.0211	9	0.72032	D	0.01	.	1.4028	0.02274	0.1429:0.2554:0.3562:0.2454	.	51	Q3ZCT1	ZN260_HUMAN	V	51	ENSP00000429803:G51V	ENSP00000429803:G51V	G	-	2	0	ZNF260	41697829	0.000000	0.05858	0.009000	0.14445	0.021000	0.10359	-0.086000	0.11233	-0.134000	0.11516	-0.266000	0.10368	GGA		PASS	0.368	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		119	156	119	156	---	---	---	---
ZNF527	84503	broad.mit.edu	37	19	37870113	37870113	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:37870113T>C	ENST00000436120.2	+	3	232	c.125T>C	c.(124-126)gTc>gCc	p.V42A	ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000483919.1_Missense_Mutation_p.V42A|ZNF527_ENST00000587349.1_Missense_Mutation_p.V42A	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V42A(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)			TACAGAGATGTCATGTTGGAG	0.438																																						uc010efk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(124-126)GTC>GCC		zinc finger protein 527							122.0	122.0	122.0					19																	37870113		2080	4253	6333	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37870113T>C	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.125T>C	19.37:g.37870113T>C	ENSP00000390179:p.Val42Ala					ZNF527_uc002ogf.3_Missense_Mutation_p.V42A|ZNF527_uc010xtq.1_RNA|ZNF527_uc002oge.2_Missense_Mutation_p.V42A	p.V42A	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	236	+			42			KRAB.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.125T>C	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234277	0.79688	.	.	ENSG00000189164	ENST00000356178;ENST00000317566	T	0.03951	3.75	4.97	4.97	0.65823	Krueppel-associated box (4);	0.282420	0.19091	N	0.122978	T	0.30039	0.0752	M	0.93462	3.42	0.24505	N	0.994238	D;D;D	0.89917	0.998;0.994;1.0	D;D;D	0.91635	0.979;0.949;0.999	T	0.32188	-0.9916	10	0.87932	D	0	.	13.8039	0.63218	0.0:0.0:0.0:1.0	.	42;42;42	Q8NB42;Q8NB42-2;Q0P6G1	ZN527_HUMAN;.;.	A	42	ENSP00000348501:V42A	ENSP00000325231:V42A	V	+	2	0	ZNF527	42561953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.109000	0.50345	2.107000	0.64212	0.529000	0.55759	GTC		PASS	0.438	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		74	189	74	189	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433896	40433896	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:40433896G>T	ENST00000221347.6	-	2	380	c.373C>A	c.(373-375)Cct>Act	p.P125T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	125	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.P125T(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGTGTCAGGCTTGGCATTT	0.567																																						uc002omp.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(373-375)CCT>ACT		Fc fragment of IgG binding protein precursor							84.0	67.0	73.0					19																	40433896		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433896G>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.373C>A	19.37:g.40433896G>T	ENSP00000221347:p.Pro125Thr						p.P125T	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	381	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		125			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.373C>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	4.932	0.173195	0.09391	.	.	ENSG00000090920	ENST00000221347	T	0.18657	2.2	4.6	4.6	0.57074	.	0.271234	0.24285	U	0.039871	T	0.16257	0.0391	N	0.25647	0.755	0.22610	N	0.998939	P	0.51791	0.948	P	0.49528	0.614	T	0.11348	-1.0591	10	0.12766	T	0.61	.	6.5333	0.22339	0.0942:0.0:0.7243:0.1815	.	125	Q9Y6R7	FCGBP_HUMAN	T	125	ENSP00000221347:P125T	ENSP00000221347:P125T	P	-	1	0	FCGBP	45125736	0.003000	0.15002	0.860000	0.33809	0.005000	0.04900	-0.067000	0.11579	2.496000	0.84212	0.655000	0.94253	CCT		PASS	0.567	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		39	59	39	59	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42863288	42863288	+	Silent	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:42863288G>T	ENST00000251268.6	+	31	5382	c.5382G>T	c.(5380-5382)ggG>ggT	p.G1794G	MEGF8_ENST00000334370.4_Silent_p.G1727G	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1794					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.G1335G(1)|p.G1794G(1)|p.G1727G(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCTGTTAGGGGACACCATGG	0.657																																						uc002otl.3																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(5179-5181)GGG>GGT		multiple EGF-like-domains 8							20.0	18.0	19.0					19																	42863288		2200	4297	6497	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42863288G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5382G>T	19.37:g.42863288G>T						MEGF8_uc002otm.3_Silent_p.G1335G	p.G1727G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			30	5816	+		Prostate(69;0.00682)	1794			Extracellular (Potential).		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.5181G>T																																																																																					PASS	0.657	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		3	13	3	13	---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44740736	44740736	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:44740736G>T	ENST00000313040.7	+	6	2358	c.2153G>T	c.(2152-2154)tGt>tTt	p.C718F	ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Missense_Mutation_p.C667F|ZNF227_ENST00000589005.1_Missense_Mutation_p.C667F	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	718					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.C718F(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCCCATATATGTGAGGAGTGT	0.468																																						uc002oyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2152-2154)TGT>TTT		zinc finger protein 227							96.0	99.0	98.0					19																	44740736		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740736G>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2153G>T	19.37:g.44740736G>T	ENSP00000321049:p.Cys718Phe					ZNF227_uc010xwu.1_Missense_Mutation_p.C667F|ZNF227_uc002oyv.2_Missense_Mutation_p.C718F|ZNF227_uc010xwv.1_Missense_Mutation_p.C667F|ZNF227_uc010xww.1_Missense_Mutation_p.C639F|ZNF227_uc002oyw.2_Missense_Mutation_p.C690F|ZNF227_uc010ejh.2_Missense_Mutation_p.C711F|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	p.C718F	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	2358	+		Prostate(69;0.0435)	718			C2H2-type 17.		B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.2153G>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557659	0.65425	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	D;D	0.85088	-1.94;-1.94	3.92	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94591	0.8257	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.96266	0.9195	9	0.87932	D	0	.	15.236	0.73432	0.0:0.0:1.0:0.0	.	639;697;670;718	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	F	718;675;667;697;357	ENSP00000321049:C718F;ENSP00000375823:C667F	ENSP00000321049:C718F	C	+	2	0	ZNF227	49432576	1.000000	0.71417	0.958000	0.39756	0.939000	0.58152	8.764000	0.91719	2.191000	0.70037	0.563000	0.77884	TGT		PASS	0.468	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		39	190	39	190	---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52497156	52497156	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:52497156C>A	ENST00000602063.1	-	6	1522	c.1173G>T	c.(1171-1173)caG>caT	p.Q391H	ZNF615_ENST00000594083.1_Missense_Mutation_p.Q402H|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q396H|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q391H|ZNF615_ENST00000598071.1_Missense_Mutation_p.Q402H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	391					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.Q402H(1)|p.Q391H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TATGAGTTTGCTGATGTGTGA	0.393																																						uc002pye.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1171-1173)CAG>CAT		zinc finger protein 615							94.0	86.0	89.0					19																	52497156		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497156C>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1173G>T	19.37:g.52497156C>A	ENSP00000473089:p.Gln391His					ZNF615_uc002pyf.1_Missense_Mutation_p.Q402H|ZNF615_uc002pyg.1_Missense_Mutation_p.Q283H|ZNF615_uc002pyh.1_Missense_Mutation_p.Q402H|ZNF615_uc010epi.1_Missense_Mutation_p.Q398H|ZNF615_uc010ydg.1_Missense_Mutation_p.Q396H	p.Q391H	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1465	-		all_neural(266;0.117)	391			C2H2-type 7.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1173G>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751963	0.49362	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.36520	1.25;1.25	3.26	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42404	0.1201	L	0.46614	1.455	0.25781	N	0.984721	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.61275	0.886;0.817;0.817;0.886	T	0.21965	-1.0230	9	0.54805	T	0.06	.	2.9287	0.05793	0.2198:0.5397:0.0:0.2405	.	396;398;402;391	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	H	391;401;396;401	ENSP00000365906:Q391H;ENSP00000375672:Q396H	ENSP00000347019:Q401H	Q	-	3	2	ZNF615	57188968	0.018000	0.18449	0.998000	0.56505	0.978000	0.69477	0.201000	0.17276	0.686000	0.31488	0.650000	0.86243	CAG		PASS	0.393	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		47	137	47	137	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52714673	52714673	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:52714673G>A	ENST00000322088.6	+	4	489	c.431G>A	c.(430-432)cGc>cAc	p.R144H	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R89H|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	144	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R144H(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCACCTCCCGCACCTCGGCC	0.642			Mis		clear cell ovarian carcinoma																																	uc002pyp.2				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - Missense(1)		lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(430-432)CGC>CAC		alpha isoform of regulatory subunit A, protein							50.0	53.0	52.0					19																	52714673		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52714673G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.431G>A	19.37:g.52714673G>A	ENSP00000324804:p.Arg144His					PPP2R1A_uc010ydk.1_Missense_Mutation_p.R89H|PPP2R1A_uc010epm.1_Missense_Mutation_p.R184H|PPP2R1A_uc002pyq.2_5'UTR	p.R144H	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	4	590	+			144			PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 4.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.431G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898808	0.72639	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.55413	0.52;0.52	4.58	3.54	0.40534	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000009	T	0.76069	0.3936	M	0.93462	3.42	0.58432	D	0.999998	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.68765	0.811;0.96;0.96	T	0.81234	-0.1025	10	0.87932	D	0	-21.3875	10.7528	0.46219	0.0931:0.0:0.9069:0.0	.	89;144;144	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	H	134;144;89	ENSP00000324804:R144H;ENSP00000415067:R89H	ENSP00000324804:R144H	R	+	2	0	PPP2R1A	57406485	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	8.584000	0.90798	1.297000	0.44761	-0.140000	0.14226	CGC		PASS	0.642	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		63	66	63	66	---	---	---	---
ZNF528	84436	broad.mit.edu	37	19	52909268	52909268	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:52909268A>T	ENST00000360465.3	+	5	550	c.124A>T	c.(124-126)Agg>Tgg	p.R42W	ZNF528_ENST00000598192.1_Missense_Mutation_p.R42W|ZNF528_ENST00000391788.2_Missense_Mutation_p.R32W|ZNF528_ENST00000594530.1_Missense_Mutation_p.R42W	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R42W(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GGAGAATTATAGGAACCTGGT	0.507																																						uc002pzh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(124-126)AGG>TGG		zinc finger protein 528							134.0	134.0	134.0					19																	52909268		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52909268A>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.124A>T	19.37:g.52909268A>T	ENSP00000353652:p.Arg42Trp					ZNF528_uc002pzi.2_5'UTR	p.R42W	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	5	550	+			42			KRAB.		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.124A>T	CCDS33091.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.69|14.69	2.611764|2.611764	0.46631|0.46631	.|.	.|.	ENSG00000167555|ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465|ENST00000448954	T;T;T|.	0.02140|.	4.43;4.43;4.43|.	2.08|2.08	0.809|0.809	0.18725|0.18725	Krueppel-associated box (4);|.	.|.	.|.	.|.	.|.	T|.	0.59905|.	0.2228|.	M|M	0.90019|0.90019	3.08|3.08	0.23946|0.23946	N|N	0.99639|0.99639	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|.	0.55068|.	-0.8198|.	9|.	0.54805|.	T|.	0.06|.	.|.	3.4542|3.4542	0.07510|0.07510	0.6087:0.2341:0.1572:0.0|0.6087:0.2341:0.1572:0.0	.|.	42|.	Q3MIS6|.	ZN528_HUMAN|.	W|L	32;42;42|11	ENSP00000375665:R32W;ENSP00000375664:R42W;ENSP00000353652:R42W|.	ENSP00000353652:R42W|.	R|X	+|+	1|2	2|0	ZNF528|ZNF528	57601080|57601080	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.919000|0.919000	0.55068|0.55068	-0.741000|-0.741000	0.04855|0.04855	0.942000|0.942000	0.37525|0.37525	0.402000|0.402000	0.26972|0.26972	AGG|TAG		PASS	0.507	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		86	271	86	271	---	---	---	---
ZNF331	55422	broad.mit.edu	37	19	54081100	54081100	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:54081100A>G	ENST00000253144.9	+	7	2619	c.1286A>G	c.(1285-1287)cAt>cGt	p.H429R	ZNF331_ENST00000512387.1_Missense_Mutation_p.H429R|ZNF331_ENST00000411977.2_Missense_Mutation_p.H429R|ZNF331_ENST00000511154.1_Missense_Mutation_p.H429R|ZNF331_ENST00000513999.1_Missense_Mutation_p.H429R|ZNF331_ENST00000511593.2_Missense_Mutation_p.H429R|ZNF331_ENST00000449416.1_Missense_Mutation_p.H429R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	429					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.H429R(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTTACACAACATCAGAAAACG	0.493			T	?	follicular thyroid adenoma																																	uc002qbx.1				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(1285-1287)CAT>CGT		zinc finger protein 331							77.0	64.0	69.0					19																	54081100		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54081100A>G	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1286A>G	19.37:g.54081100A>G	ENSP00000253144:p.His429Arg					ZNF331_uc002qby.1_Missense_Mutation_p.H429R|ZNF331_uc002qbz.1_Missense_Mutation_p.H429R|ZNF331_uc002qca.1_Missense_Mutation_p.H429R|ZNF331_uc010eqr.1_Missense_Mutation_p.H429R|ZNF331_uc002qcb.1_Missense_Mutation_p.H429R|ZNF331_uc002qcc.1_Missense_Mutation_p.H429R|ZNF331_uc002qcd.1_Missense_Mutation_p.H429R	p.H429R	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2720	+			429			C2H2-type 11.		Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.1286A>G	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573783	0.65765	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33691	N	0.004644	D	0.95230	0.8453	H	0.97758	4.07	0.33257	D	0.559281	D	0.89917	1.0	D	0.87578	0.998	D	0.96610	0.9451	10	0.87932	D	0	.	10.4278	0.44389	1.0:0.0:0.0:0.0	.	429	Q9NQX6	ZN331_HUMAN	R	429	ENSP00000253144:H429R;ENSP00000427439:H429R;ENSP00000393817:H429R;ENSP00000393336:H429R;ENSP00000421014:H429R;ENSP00000423156:H429R;ENSP00000421728:H429R	ENSP00000253144:H429R	H	+	2	0	ZNF331	58772912	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	5.555000	0.67301	1.623000	0.50342	0.533000	0.62120	CAT		PASS	0.493	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		22	58	22	58	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54656311	54656311	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:54656311G>T	ENST00000406403.1	+	14	3455	c.1852G>T	c.(1852-1854)Gaa>Taa	p.E618*	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000358389.3_Nonsense_Mutation_p.E437*|CNOT3_ENST00000221232.5_Nonsense_Mutation_p.E618*			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	618	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E437*(1)|p.E618*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAGGCCATGGAAGAGGCCGC	0.627																																						uc002qdj.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1852-1854)GAA>TAA		CCR4-NOT transcription complex, subunit 3							45.0	49.0	48.0					19																	54656311		2203	4300	6503	SO:0001587	stop_gained	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54656311G>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1852G>T	19.37:g.54656311G>T	ENSP00000383954:p.Glu618*					CNOT3_uc010yel.1_Nonsense_Mutation_p.E618*|CNOT3_uc002qdi.2_Nonsense_Mutation_p.E531*|CNOT3_uc002qdk.1_Nonsense_Mutation_p.E618*|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Nonsense_Mutation_p.E73*	p.E618*	NM_014516	NP_055331	O75175	CNOT3_HUMAN			15	2163	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		618			Pro-rich.		Q9NZN7|Q9UF76	Nonsense_Mutation	SNP	ENST00000406403.1	37	c.1852G>T	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.260408|5.260408	0.95368|0.95368	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000457463	.|.	.|.	.|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	0.196363|.	0.42821|.	D|.	0.000659|.	.|T	.|0.66177	.|0.2763	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71537	.|-0.4563	.|3	0.52906|.	T|.	0.07|.	-21.7448|-21.7448	15.8235|15.8235	0.78678|0.78678	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	618;437;618|149	.|.	ENSP00000221232:E618X|.	E|G	+|+	1|2	0|0	CNOT3|CNOT3	59348123|59348123	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	6.013000|6.013000	0.70776|0.70776	2.079000|2.079000	0.62486|0.62486	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.627	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		22	84	22	84	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55087569	55087569	+	Silent	SNP	G	G	T	rs539602525	byFrequency	TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:55087569G>T	ENST00000251377.3	+	7	1381	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.V416V|LILRA2_ENST00000391738.3_Silent_p.V416V|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.V404V			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	416					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V416V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGGAGCTCGTGGTCTCAGGTG	0.607																																						uc002qgg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1246-1248)GTG>GTT		leukocyte immunoglobulin-like receptor,							79.0	74.0	75.0					19																	55087569		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55087569G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1248G>T	19.37:g.55087569G>T						LILRA2_uc010ern.2_Silent_p.V416V|LILRA2_uc002qgf.2_Silent_p.V416V|LILRA2_uc010yfe.1_Silent_p.V416V|LILRA2_uc010yff.1_Silent_p.V404V|LILRA2_uc010ero.2_Silent_p.V404V|LILRA2_uc010yfg.1_Intron	p.V416V	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	6	1337	+			416			Extracellular (Potential).		O75020	Silent	SNP	ENST00000251377.3	37	c.1248G>T	CCDS46179.1																																																																																				PASS	0.607	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			62	123	62	123	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55450872	55450872	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:55450872C>A	ENST00000590030.1	-	3	1355	c.1315G>T	c.(1315-1317)Ggg>Tgg	p.G439W	NLRP7_ENST00000448121.2_Missense_Mutation_p.G439W|NLRP7_ENST00000340844.2_Missense_Mutation_p.G439W|NLRP7_ENST00000328092.5_Missense_Mutation_p.G439W|NLRP7_ENST00000588756.1_Missense_Mutation_p.G439W|NLRP7_ENST00000592784.1_Missense_Mutation_p.G439W|NLRP7_ENST00000446217.1_Missense_Mutation_p.G467W			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.G439W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCTGCACCCCGAGCCTTTCC	0.662																																						uc002qih.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1315-1317)GGG>TGG		NACHT, leucine rich repeat and PYD containing 7							39.0	34.0	36.0					19																	55450872		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450872C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1315G>T	19.37:g.55450872C>A	ENSP00000465520:p.Gly439Trp					NLRP7_uc002qig.3_Missense_Mutation_p.G439W|NLRP7_uc002qii.3_Missense_Mutation_p.G439W|NLRP7_uc010esk.2_Missense_Mutation_p.G439W|NLRP7_uc010esl.2_Missense_Mutation_p.G467W	p.G439W	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1391	-			439			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1315G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694706	0.30052	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.80824	-1.35;-1.35;-1.42;-1.41	2.16	1.1	0.20463	.	0.818060	0.09989	N	0.730008	D	0.89371	0.6696	M	0.89534	3.04	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.75068	-0.3448	10	0.87932	D	0	.	4.8696	0.13625	0.0:0.8193:0.0:0.1807	.	467;439;439;439	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	W	439;439;439;467;206	ENSP00000329568:G439W;ENSP00000409137:G439W;ENSP00000339491:G439W;ENSP00000414273:G467W	ENSP00000329568:G439W	G	-	1	0	NLRP7	60142684	0.000000	0.05858	0.035000	0.18076	0.029000	0.11900	0.688000	0.25422	0.477000	0.27464	0.462000	0.41574	GGG		PASS	0.662	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		20	87	20	87	---	---	---	---
ZNF524	147807	broad.mit.edu	37	19	56113998	56113998	+	Silent	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr19:56113998C>T	ENST00000591046.1	+	1	754	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	ZNF865_ENST00000568956.1_5'Flank|ZNF524_ENST00000301073.3_Silent_p.L174L			Q96C55	ZN524_HUMAN	zinc finger protein 524	174					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.L174L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGCTGCCCGCTGTGCCCCCG	0.726																																						uc002qlk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(520-522)CTG>TTG		zinc finger protein 524							5.0	8.0	7.0					19																	56113998		2106	4130	6236	SO:0001819	synonymous_variant	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56113998C>T	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.520C>T	19.37:g.56113998C>T						FIZ1_uc002qlj.3_5'Flank	p.L174L	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	603	+			174			C2H2-type 3.		Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	37	c.520C>T	CCDS12929.1																																																																																				PASS	0.726	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		3	7	3	7	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2398084	2398084	+	Silent	SNP	C	C	T	rs371303959		TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr20:2398084C>T	ENST00000202625.2	+	10	1604	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	TGM6_ENST00000381423.1_Silent_p.L515L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	515					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L515L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGACTGGCCCTGTGCTTGGC	0.647																																						uc002wfy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1543-1545)CTG>TTG		transglutaminase 6	L-Glutamine(DB00130)						40.0	36.0	38.0					20																	2398084		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2398084C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1543C>T	20.37:g.2398084C>T						TGM6_uc010gal.1_Silent_p.L515L	p.L515L	NM_198994	NP_945345	O95932	TGM3L_HUMAN			10	1604	+			515					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.1543C>T	CCDS13025.1																																																																																				PASS	0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		21	34	21	34	---	---	---	---
EMILIN3	90187	broad.mit.edu	37	20	39990768	39990768	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr20:39990768G>A	ENST00000332312.3	-	4	1633	c.1441C>T	c.(1441-1443)Cta>Tta	p.L481L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	481						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.L481L(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AATGTTGCTAGGCGCTCCTCG	0.632																																						uc002xjy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1441-1443)CTA>TTA		elastin microfibril interfacer 3							69.0	67.0	68.0					20																	39990768		2203	4300	6503	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39990768G>A	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1441C>T	20.37:g.39990768G>A							p.L481L	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	1665	-		Myeloproliferative disorder(115;0.00425)	481			Potential.		Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.1441C>T	CCDS13316.1																																																																																				PASS	0.632	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		36	105	36	105	---	---	---	---
TOX2	84969	broad.mit.edu	37	20	42694707	42694707	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr20:42694707A>T	ENST00000358131.5	+	6	1470	c.1262A>T	c.(1261-1263)cAg>cTg	p.Q421L	TOX2_ENST00000341197.4_Missense_Mutation_p.Q439L|TOX2_ENST00000372999.1_Missense_Mutation_p.Q397L|TOX2_ENST00000423191.2_Missense_Mutation_p.Q397L|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	421	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q448L(1)|p.Q397L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ATGGCACTCCAGGTGCAGCTG	0.672																																						uc002xlf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1261-1263)CAG>CTG		TOX high mobility group box family member 2							11.0	13.0	12.0					20																	42694707		2144	4203	6347	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694707A>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1262A>T	20.37:g.42694707A>T	ENSP00000350849:p.Gln421Leu					TOX2_uc010ggo.2_Missense_Mutation_p.Q439L|TOX2_uc002xle.3_Missense_Mutation_p.Q397L|TOX2_uc010ggp.2_Missense_Mutation_p.Q397L|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Missense_Mutation_p.Q317L	p.Q421L	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1279	+		Myeloproliferative disorder(115;0.00452)	421			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1262A>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650681	0.87958	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.19394	2.45;2.46;2.46;2.15;2.18	5.29	5.29	0.74685	.	0.761329	0.11838	N	0.524535	T	0.42337	0.1198	L	0.54323	1.7	0.80722	D	1	D;D;D;P	0.60160	0.981;0.962;0.987;0.936	D;D;D;P	0.69824	0.966;0.946;0.953;0.885	T	0.09751	-1.0660	10	0.72032	D	0.01	.	12.8802	0.58012	1.0:0.0:0.0:0.0	.	317;439;421;397	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	L	439;397;397;421;317	ENSP00000344724:Q439L;ENSP00000390278:Q397L;ENSP00000362090:Q397L;ENSP00000350849:Q421L;ENSP00000396777:Q317L	ENSP00000344724:Q439L	Q	+	2	0	TOX2	42128121	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.210000	0.89753	2.111000	0.64477	0.482000	0.46254	CAG		PASS	0.672	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			15	24	15	24	---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42788378	42788378	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr20:42788378G>T	ENST00000372980.3	-	2	1921	c.1049C>A	c.(1048-1050)aCc>aAc	p.T350N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	350					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.T350N(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGCGCTTGGTGTCCTTGAC	0.662																																						uc002xli.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)ACC>AAC		junctophilin 2 isoform 1							57.0	47.0	51.0					20																	42788378		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788378G>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1049C>A	20.37:g.42788378G>T	ENSP00000362071:p.Thr350Asn						p.T350N	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1922	-		Myeloproliferative disorder(115;0.0122)	350			Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1049C>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	12.12	1.843033	0.32606	.	.	ENSG00000149596	ENST00000372980	T	0.60920	0.15	3.12	2.04	0.26737	.	0.103621	0.64402	U	0.000005	T	0.31979	0.0814	N	0.19112	0.55	0.80722	D	1	B	0.24823	0.112	B	0.20955	0.032	T	0.07927	-1.0747	10	0.19590	T	0.45	.	3.0458	0.06153	0.5221:0.0:0.4778:0.0	.	350	Q9BR39	JPH2_HUMAN	N	350	ENSP00000362071:T350N	ENSP00000362071:T350N	T	-	2	0	JPH2	42221792	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.785000	0.68998	1.550000	0.49438	0.306000	0.20318	ACC		PASS	0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			13	42	13	42	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48522404	48522404	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr20:48522404C>G	ENST00000422556.1	-	3	1664	c.1315G>C	c.(1315-1317)Ggc>Cgc	p.G439R	SPATA2_ENST00000543716.1_Missense_Mutation_p.G302R|SPATA2_ENST00000289431.5_Missense_Mutation_p.G439R	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	439					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G439R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGGTCGAGGCCCTGAGTCTGG	0.662																																						uc010gie.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1315-1317)GGC>CGC		spermatogenesis associated 2							75.0	67.0	70.0					20																	48522404		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522404C>G	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.1315G>C	20.37:g.48522404C>G	ENSP00000416799:p.Gly439Arg					SPATA2_uc002xuw.2_Missense_Mutation_p.G439R|SPATA2_uc010zyn.1_Missense_Mutation_p.G302R	p.G439R	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1665	-	Hepatocellular(150;0.133)		439					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.1315G>C	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423331	0.43020	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.44083	0.94;0.94;0.93	4.68	2.72	0.32119	.	0.624451	0.15345	N	0.267264	T	0.36826	0.0981	L	0.47716	1.5	0.32179	N	0.580626	B	0.32526	0.374	B	0.38616	0.277	T	0.48536	-0.9027	10	0.66056	D	0.02	-11.4296	5.0084	0.14300	0.2925:0.546:0.0:0.1615	.	439	Q9UM82	SPAT2_HUMAN	R	439;439;302	ENSP00000289431:G439R;ENSP00000416799:G439R;ENSP00000438855:G302R	ENSP00000289431:G439R	G	-	1	0	SPATA2	47955811	0.996000	0.38824	0.871000	0.34182	0.819000	0.46315	0.592000	0.23984	0.556000	0.29098	-0.463000	0.05309	GGC		PASS	0.662	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		29	107	29	107	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57829194	57829194	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr20:57829194C>A	ENST00000371030.2	+	5	4430	c.4430C>A	c.(4429-4431)tCc>tAc	p.S1477Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1477							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S1477Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCTTTGGGTCCAAAGGAACT	0.498																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(4429-4431)TCC>TAC		zinc finger protein 831							89.0	91.0	91.0					20																	57829194		1993	4174	6167	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829194C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4430C>A	20.37:g.57829194C>A	ENSP00000360069:p.Ser1477Tyr						p.S1477Y	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4430	+	all_lung(29;0.0085)		1477					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4430C>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336428	0.60963	.	.	ENSG00000124203	ENST00000371030	T	0.05649	3.41	5.9	1.79	0.24919	.	0.752911	0.12193	N	0.490990	T	0.09730	0.0239	L	0.60455	1.87	0.09310	N	1	P	0.48016	0.904	P	0.47134	0.539	T	0.21759	-1.0236	10	0.66056	D	0.02	-2.2717	4.7309	0.12964	0.0:0.5902:0.1577:0.2521	.	1477	Q5JPB2	ZN831_HUMAN	Y	1477	ENSP00000360069:S1477Y	ENSP00000360069:S1477Y	S	+	2	0	ZNF831	57262589	0.000000	0.05858	0.001000	0.08648	0.484000	0.33280	0.806000	0.27126	0.384000	0.24942	0.650000	0.86243	TCC		PASS	0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		56	88	56	88	---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61942764	61942764	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr20:61942764G>T	ENST00000358894.6	+	12	1512	c.1412G>T	c.(1411-1413)cGg>cTg	p.R471L	COL20A1_ENST00000326996.6_Missense_Mutation_p.R471L|COL20A1_ENST00000435874.1_Missense_Mutation_p.R478L|COL20A1_ENST00000422202.1_Missense_Mutation_p.R478L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	471	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.R471L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTCCGCCCCGGGCGCTGACC	0.682																																						uc011aau.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1411-1413)CGG>CTG		collagen, type XX, alpha 1							10.0	13.0	12.0					20																	61942764		2023	4158	6181	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61942764G>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1412G>T	20.37:g.61942764G>T	ENSP00000351767:p.Arg471Leu					COL20A1_uc011aav.1_Missense_Mutation_p.R292L	p.R471L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			12	1512	+	all_cancers(38;1.39e-10)		471			Fibronectin type-III 3.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.1412G>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385524	0.11524	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.3	-0.893	0.10567	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.970188	0.08454	N	0.943446	T	0.43389	0.1245	L	0.51914	1.62	0.09310	N	1	P;P	0.40180	0.657;0.705	B;B	0.37989	0.171;0.262	T	0.30475	-0.9977	10	0.29301	T	0.29	.	8.8451	0.35166	0.2881:0.0:0.7119:0.0	.	478;471	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	471;471;478;478	ENSP00000351767:R471L;ENSP00000323077:R471L;ENSP00000408690:R478L;ENSP00000414753:R478L	ENSP00000323077:R471L	R	+	2	0	COL20A1	61413209	0.001000	0.12720	0.005000	0.12908	0.062000	0.15995	0.931000	0.28871	-0.136000	0.11475	-0.373000	0.07131	CGG		PASS	0.682	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		4	7	4	7	---	---	---	---
KRTAP13-3	337960	broad.mit.edu	37	21	31798006	31798006	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr21:31798006G>A	ENST00000390690.2	-	1	280	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	75	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.P75P(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGGTGTGGCAGGGGCTGGACT	0.567																																						uc002yob.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(223-225)CCC>CCT		keratin associated protein 13-3							62.0	70.0	67.0					21																	31798006		2203	4300	6503	SO:0001819	synonymous_variant	337960					intermediate filament		g.chr21:31798006G>A	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.225C>T	21.37:g.31798006G>A							p.P75P	NM_181622	NP_853653	Q3SY46	KR133_HUMAN			1	225	-			75			3.|5 X 10 AA approximate repeats.		Q3LI78	Silent	SNP	ENST00000390690.2	37	c.225C>T	CCDS13591.1																																																																																				PASS	0.567	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			31	72	31	72	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36705391	36705391	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr22:36705391A>C	ENST00000216181.5	-	15	2009	c.1779T>G	c.(1777-1779)aaT>aaG	p.N593K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	593	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.N593K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGATGTTGTCATTCAGGGGAT	0.572			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1777-1779)AAT>AAG		myosin, heavy polypeptide 9, non-muscle							239.0	176.0	197.0					22																	36705391		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36705391A>C		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1779T>G	22.37:g.36705391A>C	ENSP00000216181:p.Asn593Lys					MYH9_uc003aph.1_Missense_Mutation_p.N457K	p.N593K	NM_002473	NP_002464	P35579	MYH9_HUMAN			15	2010	-			593			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1779T>G	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991410	0.74703	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.87412	-2.25	4.73	-3.56	0.04626	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92838	0.6286	10	0.87932	D	0	.	11.8525	0.52419	0.5467:0.0:0.4533:0.0	.	593	P35579	MYH9_HUMAN	K	457;593	ENSP00000216181:N593K	ENSP00000216181:N593K	N	-	3	2	MYH9	35035337	0.004000	0.15560	0.992000	0.48379	0.989000	0.77384	-0.973000	0.03798	-0.344000	0.08338	-0.313000	0.08912	AAT		PASS	0.572	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		15	50	15	50	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50654264	50654264	+	IGR	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr22:50654264G>A	ENST00000248846.5	-	0	5612				SELO_ENST00000492092.1_3'UTR|TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000380903.2_Silent_p.L490L			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.L490L(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGAGGAGCTGAGGCTGGCCT	0.567																																						uc011arr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1468-1470)CTG>CTA		selenoprotein O							52.0	61.0	58.0					22																	50654264		2048	4188	6236	SO:0001628	intergenic_variant	83642							g.chr22:50654264G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50654264G>A						SELO_uc010hap.2_Silent_p.L301L|SELO_uc003bjy.2_Silent_p.L170L|SELO_uc003bjz.2_Missense_Mutation_p.E243K	p.L490L	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	6	1528	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	490					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.1470G>A	CCDS14087.1																																																																																				PASS	0.567	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		8	130	8	130	---	---	---	---
MAPK11	5600	broad.mit.edu	37	22	50705455	50705455	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr22:50705455C>A	ENST00000330651.6	-	7	618	c.518G>T	c.(517-519)cGc>cTc	p.R173L	MAPK11_ENST00000495277.1_5'Flank|MAPK11_ENST00000449719.2_Missense_Mutation_p.R65L	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.R173L(1)		breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	GTCCGCCTGGCGCGCCAGCCC	0.662																																					GBM(9;634 739 50668)	uc003bkr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(517-519)CGC>CTC		mitogen-activated protein kinase 11							57.0	54.0	55.0					22																	50705455		2201	4299	6500	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705455C>A	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.518G>T	22.37:g.50705455C>A	ENSP00000333685:p.Arg173Leu					MAPK11_uc010hax.2_5'UTR|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_Missense_Mutation_p.R65L	p.R173L	NM_002751	NP_002742	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	576	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	173			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.518G>T	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	c	18.68	3.676216	0.67928	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.16073	2.37;2.37	4.96	3.92	0.45320	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.202863	0.41194	U	0.000932	T	0.47469	0.1447	M	0.90252	3.1	0.80722	D	1	B;D	0.64830	0.426;0.994	B;D	0.66979	0.371;0.948	T	0.59904	-0.7366	10	0.87932	D	0	-17.9754	14.2232	0.65841	0.0:0.8488:0.1512:0.0	.	65;173	B7Z630;Q15759	.;MK11_HUMAN	L	173;65	ENSP00000333685:R173L;ENSP00000406921:R65L	ENSP00000333685:R173L	R	-	2	0	MAPK11	49047582	0.735000	0.28153	0.988000	0.46212	0.023000	0.10783	4.680000	0.61656	1.091000	0.41335	-0.347000	0.07816	CGC		PASS	0.662	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			17	43	17	43	---	---	---	---
ACE2	59272	broad.mit.edu	37	X	15591560	15591560	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:15591560C>A	ENST00000252519.3	-	11	1573	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	ACE2_ENST00000427411.1_Missense_Mutation_p.V491L			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	491					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.V491L(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TCATGGGGCACAGGTTCCACC	0.428																																						uc004cxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1471-1473)GTG>TTG		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						163.0	138.0	147.0					X																	15591560		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15591560C>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1471G>T	X.37:g.15591560C>A	ENSP00000252519:p.Val491Leu					ACE2_uc004cxb.2_Missense_Mutation_p.V491L	p.V491L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			11	1639	-	Hepatocellular(33;0.183)		491			Extracellular (Potential).		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.1471G>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839819	0.32513	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.39056	1.1;1.1	5.75	-10.1	0.00402	.	0.752669	0.12485	N	0.464725	T	0.17152	0.0412	N	0.20610	0.595	0.09310	N	0.999995	B	0.06786	0.001	B	0.16289	0.015	T	0.05733	-1.0867	10	0.33141	T	0.24	-0.0032	4.0991	0.10005	0.1912:0.2291:0.4136:0.166	.	491	Q9BYF1	ACE2_HUMAN	L	491	ENSP00000252519:V491L;ENSP00000389326:V491L	ENSP00000252519:V491L	V	-	1	0	ACE2	15501481	0.000000	0.05858	0.120000	0.21714	0.983000	0.72400	-0.800000	0.04555	-2.043000	0.00913	-1.156000	0.01807	GTG		PASS	0.428	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			55	69	55	69	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21508631	21508631	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:21508631C>G	ENST00000379510.3	+	6	652	c.616C>G	c.(616-618)Ctg>Gtg	p.L206V	CNKSR2_ENST00000279451.4_Missense_Mutation_p.L206V|CNKSR2_ENST00000543067.1_Missense_Mutation_p.L206V|CNKSR2_ENST00000425654.2_Missense_Mutation_p.L206V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	206					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.L206V(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTCAGATCCTCTGGTTTCACA	0.418																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(616-618)CTG>GTG		connector enhancer of kinase suppressor of Ras							150.0	124.0	133.0					X																	21508631		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21508631C>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.616C>G	X.37:g.21508631C>G	ENSP00000368824:p.Leu206Val					CNKSR2_uc004czw.2_Missense_Mutation_p.L206V|CNKSR2_uc011mjn.1_Missense_Mutation_p.L206V|CNKSR2_uc011mjo.1_Missense_Mutation_p.L206V	p.L206V	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			6	652	+			206					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.616C>G	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643234	0.47153	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.83	4.96	0.65561	PDZ/DHR/GLGF (1);	0.062592	0.64402	D	0.000004	T	0.43612	0.1255	L	0.28192	0.835	0.54753	D	0.999989	D;B;B	0.56968	0.978;0.199;0.44	P;B;B	0.54401	0.751;0.128;0.205	T	0.32851	-0.9891	10	0.46703	T	0.11	-10.0742	14.3982	0.67025	0.0:0.9263:0.0:0.0737	.	206;206;206	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	V	206	ENSP00000397906:L206V;ENSP00000444633:L206V;ENSP00000279451:L206V;ENSP00000368824:L206V	ENSP00000279451:L206V	L	+	1	2	CNKSR2	21418552	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	3.016000	0.49607	2.460000	0.83146	0.600000	0.82982	CTG		PASS	0.418	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		20	107	20	107	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27997796	27997796	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:27997796C>A	ENST00000441525.1	-	1	1770	c.1656G>T	c.(1654-1656)gtG>gtT	p.V552V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	552								p.V552V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACAGGTGACGCACGAAGAACC	0.478																																						uc004dbx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1654-1656)GTG>GTT		DDB1 and CUL4 associated factor 8-like 1							169.0	131.0	144.0					X																	27997796		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27997796C>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1656G>T	X.37:g.27997796C>A							p.V552V	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1771	-			552					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1656G>T	CCDS35222.1																																																																																				PASS	0.478	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		56	88	56	88	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49065032	49065032	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:49065032C>T	ENST00000376265.2	-	43	5160	c.5099G>A	c.(5098-5100)aGg>aAg	p.R1700K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1635K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1689K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1700					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1700K(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGAGTCCCCCTGTCATCATC	0.587																																						uc004dnb.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(5098-5100)AGG>AAG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						67.0	56.0	60.0					X																	49065032		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49065032C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5099G>A	X.37:g.49065032C>T	ENSP00000365441:p.Arg1700Lys					CACNA1F_uc010nip.2_Missense_Mutation_p.R1689K	p.R1700K	NM_005183	NP_005174	O60840	CAC1F_HUMAN			43	5161	-			1700			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5099G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	3.053	-0.194975	0.06259	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96011	-3.88;-3.8;-3.8	4.86	0.955	0.19602	.	1.875770	0.02665	N	0.107978	D	0.86012	0.5831	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.004;0.005	T	0.79569	-0.1749	10	0.06236	T	0.91	.	0.8363	0.01140	0.1941:0.4045:0.1849:0.2165	.	1689;1700	F5CIQ9;O60840	.;CAC1F_HUMAN	K	1635;1689;1700	ENSP00000365427:R1635K;ENSP00000321618:R1689K;ENSP00000365441:R1700K	ENSP00000321618:R1689K	R	-	2	0	CACNA1F	48951976	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	-0.318000	0.08050	0.143000	0.18926	0.600000	0.82982	AGG		PASS	0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		16	13	16	13	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53563496	53563496	+	Silent	SNP	G	G	A	rs3761631	byFrequency	TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:53563496G>A	ENST00000342160.3	-	78	12727	c.12270C>T	c.(12268-12270)acC>acT	p.T4090T	HUWE1_ENST00000262854.6_Silent_p.T4090T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4090	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.T3980T(1)|p.T4090T(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATGGTGTAGGTGACTCGAT	0.502																																						uc004dsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(12268-12270)ACC>ACT		HECT, UBA and WWE domain containing 1							219.0	177.0	191.0					X																	53563496		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563496G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12270C>T	X.37:g.53563496G>A						HUWE1_uc004dsn.2_Silent_p.T2898T	p.T4090T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			79	12672	-			4090			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.12270C>T	CCDS35301.1																																																																																				PASS	0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		49	52	49	52	---	---	---	---
MAGED2	10916	broad.mit.edu	37	X	54836517	54836517	+	Silent	SNP	A	A	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:54836517A>C	ENST00000375068.1	+	3	641	c.408A>C	c.(406-408)acA>acC	p.T136T	MAGED2_ENST00000218439.4_Silent_p.T136T|MAGED2_ENST00000375058.1_Silent_p.T136T|MAGED2_ENST00000396224.1_Silent_p.T136T|MAGED2_ENST00000375053.2_Silent_p.T136T|MAGED2_ENST00000347546.4_Silent_p.T118T|MAGED2_ENST00000375060.1_Silent_p.T98T|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375062.4_Silent_p.T98T			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	136						membrane (GO:0016020)		p.T136T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AGGTCAATACAAAGGCTCAGG	0.552																																						uc004dtk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(406-408)ACA>ACC		melanoma antigen family D, 2							21.0	19.0	20.0					X																	54836517		2203	4300	6503	SO:0001819	synonymous_variant	10916							g.chrX:54836517A>C	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.408A>C	X.37:g.54836517A>C						MAGED2_uc004dtl.1_Silent_p.T136T|MAGED2_uc004dtm.1_Silent_p.T98T|MAGED2_uc010nkc.1_Silent_p.T136T|MAGED2_uc004dtn.1_Silent_p.T136T|MAGED2_uc004dto.1_Silent_p.T110T	p.T136T	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN			3	502	+			136					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	c.408A>C	CCDS14362.1																																																																																				PASS	0.552	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		9	11	9	11	---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69646855	69646855	+	Silent	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:69646855C>A	ENST00000374382.3	+	8	947	c.696C>A	c.(694-696)gcC>gcA	p.A232A	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.A153A|GDPD2_ENST00000536730.1_Silent_p.A153A|GDPD2_ENST00000453994.2_Silent_p.A232A	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	232	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.A232A(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ACCGAGGGGCCCCCATGGTGA	0.617																																						uc004dyh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(694-696)GCC>GCA		osteoblast differentiation promoting factor							46.0	41.0	42.0					X																	69646855		2203	4300	6503	SO:0001819	synonymous_variant	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69646855C>A	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.696C>A	X.37:g.69646855C>A						GDPD2_uc010nkx.1_Silent_p.A232A|GDPD2_uc010nky.1_Silent_p.A18A|GDPD2_uc011mpk.1_Silent_p.A232A|GDPD2_uc011mpl.1_Silent_p.A153A|GDPD2_uc011mpm.1_Silent_p.A153A	p.A232A	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN			8	947	+	Renal(35;0.156)		232			GDPD.|Extracellular (Potential).		B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	ENST00000374382.3	37	c.696C>A	CCDS14402.1																																																																																				PASS	0.617	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		29	26	29	26	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433581	72433581	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:72433581T>A	ENST00000373517.3	-	1	1103	c.748A>T	c.(748-750)Aac>Tac	p.N250Y	NAP1L2_ENST00000536638.1_Missense_Mutation_p.N108Y	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	250					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.N250Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTATCAACGTTTTTTAAAACA	0.423																																						uc004ebi.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(748-750)AAC>TAC		nucleosome assembly protein 1-like 2							59.0	53.0	55.0					X																	72433581		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433581T>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.748A>T	X.37:g.72433581T>A	ENSP00000362616:p.Asn250Tyr					NAP1L2_uc011mqj.1_Missense_Mutation_p.N108Y	p.N250Y	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	1104	-	Renal(35;0.156)		250					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.748A>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	t	15.82	2.947374	0.53186	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.56611	0.45;0.45	3.1	3.1	0.35709	.	0.000000	0.85682	U	0.000000	T	0.76630	0.4014	H	0.95187	3.635	0.40261	D	0.978172	D	0.71674	0.998	D	0.71870	0.975	T	0.81430	-0.0936	10	0.87932	D	0	0.0044	8.9408	0.35729	0.0:0.0:0.0:1.0	.	250	Q9ULW6	NP1L2_HUMAN	Y	250;108	ENSP00000362616:N250Y;ENSP00000441555:N108Y	ENSP00000362616:N250Y	N	-	1	0	NAP1L2	72350306	1.000000	0.71417	0.990000	0.47175	0.890000	0.51754	6.396000	0.73234	1.458000	0.47871	0.339000	0.21740	AAC		PASS	0.423	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		11	68	11	68	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86869436	86869436	+	Splice_Site	SNP	G	G	T			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:86869436G>T	ENST00000373119.4	+	3	735		c.e3-1		KLHL4_ENST00000373114.4_Splice_Site	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.?(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CCTATTTCCAGGTTGGTTCTC	0.368																																						uc004efb.2																			2	Unknown(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.e3-1		kelch-like 4 isoform 1							129.0	110.0	116.0					X																	86869436		2203	4299	6502	SO:0001630	splice_region_variant	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86869436G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.591-1G>T	X.37:g.86869436G>T						KLHL4_uc004efa.2_Splice_Site_p.R197_splice	p.R197_splice	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			3	773	+								B2RTW2|Q9Y3J5	Splice_Site	SNP	ENST00000373119.4	37	c.591_splice	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738725	0.69304	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8261	0.78709	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL4	86756092	1.000000	0.71417	0.626000	0.29213	0.823000	0.46562	9.239000	0.95389	1.925000	0.55765	0.436000	0.28706	.		PASS	0.368	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		Intron	26	41	26	41	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177593	89177593	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:89177593A>G	ENST00000561129.2	+	1	639	c.509A>G	c.(508-510)gAg>gGg	p.E170G	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E170G			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E170G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATGTCAAGAGAGAAGCAACCA	0.587																																						uc004efe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(508-510)GAG>GGG		TGFB-induced factor homeobox 2-like, X-linked							36.0	41.0	40.0					X																	89177593		2203	4296	6499	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177593A>G	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.509A>G	X.37:g.89177593A>G	ENSP00000453704:p.Glu170Gly						p.E170G	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	558	+			170					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.509A>G	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	A	7.243	0.601709	0.13939	.	.	ENSG00000153779	ENST00000283891	T	0.67171	-0.25	2.95	0.409	0.16382	.	.	.	.	.	T	0.57080	0.2029	M	0.77103	2.36	0.09310	N	1	P	0.37781	0.608	B	0.30401	0.115	T	0.50964	-0.8765	8	.	.	.	-13.275	2.7578	0.05298	0.573:0.27:0.157:0.0	.	170	Q8IUE1	TF2LX_HUMAN	G	170	ENSP00000355119:E170G	.	E	+	2	0	TGIF2LX	89064249	0.084000	0.21492	0.001000	0.08648	0.045000	0.14185	0.476000	0.22180	0.002000	0.14630	0.412000	0.27726	GAG		PASS	0.587	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		14	31	14	31	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177791	89177791	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:89177791A>C	ENST00000561129.2	+	1	837	c.707A>C	c.(706-708)aAg>aCg	p.K236T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.K236T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K236T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CTAGAGAAGAAGCAAGAGCCT	0.483																																						uc004efe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(706-708)AAG>ACG		TGFB-induced factor homeobox 2-like, X-linked							42.0	45.0	44.0					X																	89177791		2190	4270	6460	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177791A>C	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.707A>C	X.37:g.89177791A>C	ENSP00000453704:p.Lys236Thr						p.K236T	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	756	+			236					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.707A>C	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	A	2.020	-0.424927	0.04701	.	.	ENSG00000153779	ENST00000283891	T	0.69175	-0.38	3.11	0.568	0.17333	.	0.259165	0.23300	N	0.049689	T	0.58004	0.2092	M	0.77103	2.36	0.09310	N	1	B	0.27498	0.18	B	0.25405	0.06	T	0.49224	-0.8962	9	.	.	.	-23.9326	2.9757	0.05936	0.5988:0.2547:0.1465:0.0	.	236	Q8IUE1	TF2LX_HUMAN	T	236	ENSP00000355119:K236T	.	K	+	2	0	TGIF2LX	89064447	0.158000	0.22850	0.002000	0.10522	0.018000	0.09664	1.012000	0.29924	0.028000	0.15324	-0.690000	0.03725	AAG		PASS	0.483	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		22	46	22	46	---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104464163	104464163	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:104464163G>C	ENST00000413579.1	-	5	824	c.713C>G	c.(712-714)aCa>aGa	p.T238R	TEX13A_ENST00000372575.1_Missense_Mutation_p.Q239E|TEX13A_ENST00000372578.3_Missense_Mutation_p.Q239E|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	238							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAGCTTCTCTGTGGTCTCCAT	0.627																																						uc004ema.2																			0				ovary(2)	2						c.(712-714)ACA>AGA		testis expressed sequence 13A							29.0	30.0	29.0					X																	104464163		1939	4118	6057	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464163G>C	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.713C>G	X.37:g.104464163G>C	ENSP00000399753:p.Thr238Arg					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.Q239E	p.T238R	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			5	825	-			238					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.713C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.207|6.207	0.406308|0.406308	0.11754|0.11754	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	2.54|2.54	-2.65|-2.65	0.06095|0.06095	.|.	.|2.106250	.|0.02520	.|N	.|0.092443	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.10450	.|0.005	T|T	0.06463|0.06463	-1.0825|-1.0825	6|9	0.87932|0.33940	D|T	0|0.23	.|.	1.6823|1.6823	0.02834|0.02834	0.1401:0.3732:0.2967:0.1899|0.1401:0.3732:0.2967:0.1899	.|.	.|238	.|Q9BXU3	.|TX13A_HUMAN	E|R	239|238	.|.	ENSP00000361656:Q239E|ENSP00000399753:T238R	Q|T	-|-	1|2	0|0	TEX13A|TEX13A	104350819|104350819	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.230000|-0.230000	0.09083|0.09083	-0.822000|-0.822000	0.04306|0.04306	0.513000|0.513000	0.50165|0.50165	CAG|ACA		PASS	0.627	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		14	17	14	17	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110497519	110497519	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:110497519T>C	ENST00000324068.1	-	3	445	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	93	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.Q93R(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATGAGACTCCTGAACAGCCAA	0.458																																						uc004epc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(277-279)CAG>CGG		calpain 6							147.0	124.0	132.0					X																	110497519		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110497519T>C	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.278A>G	X.37:g.110497519T>C	ENSP00000317214:p.Gln93Arg					CAPN6_uc011msu.1_5'UTR	p.Q93R	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			3	446	-			93			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.278A>G	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	T	2.398	-0.338305	0.05278	.	.	ENSG00000077274	ENST00000324068	T	0.39406	1.08	5.36	4.19	0.49359	Peptidase C2, calpain, catalytic domain (3);	0.235719	0.42548	D	0.000683	T	0.09818	0.0241	N	0.00456	-1.48	0.80722	D	1	B	0.13594	0.008	B	0.15052	0.012	T	0.16158	-1.0412	10	0.09338	T	0.73	.	4.1934	0.10431	0.0:0.338:0.0:0.662	.	93	Q9Y6Q1	CAN6_HUMAN	R	93	ENSP00000317214:Q93R	ENSP00000317214:Q93R	Q	-	2	0	CAPN6	110384175	0.981000	0.34729	1.000000	0.80357	0.959000	0.62525	2.229000	0.42990	1.896000	0.54893	0.481000	0.45027	CAG		PASS	0.458	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			38	66	38	66	---	---	---	---
LUZP4	51213	broad.mit.edu	37	X	114541191	114541191	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:114541191C>A	ENST00000371920.3	+	4	771	c.764C>A	c.(763-765)aCt>aAt	p.T255N	LUZP4_ENST00000451986.2_Missense_Mutation_p.T173N	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	255						nucleus (GO:0005634)		p.T255N(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTCATAGCCACTCAGAAAGAT	0.473																																						uc004eqa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(763-765)ACT>AAT		leucine zipper protein 4							127.0	112.0	117.0					X																	114541191		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114541191C>A	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.764C>A	X.37:g.114541191C>A	ENSP00000360988:p.Thr255Asn					LUZP4_uc004eqb.2_Missense_Mutation_p.T173N	p.T255N	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN			4	798	+			255					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.764C>A	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	c	15.00	2.703438	0.48412	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.78816	-1.21;-1.21	3.83	-6.96	0.01622	.	.	.	.	.	T	0.55226	0.1907	N	0.14661	0.345	0.09310	N	1	B;B	0.23650	0.046;0.089	B;B	0.17722	0.019;0.015	T	0.39840	-0.9594	9	0.33141	T	0.24	.	9.4328	0.38620	0.5917:0.2006:0.2078:0.0	.	173;255	B3KSD6;Q9P127	.;LUZP4_HUMAN	N	173;255	ENSP00000411212:T173N;ENSP00000360988:T255N	ENSP00000360988:T255N	T	+	2	0	LUZP4	114447447	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-6.147000	0.00078	-2.034000	0.00924	0.284000	0.19432	ACT		PASS	0.473	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		8	100	8	100	---	---	---	---
NKAP	79576	broad.mit.edu	37	X	119077307	119077307	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:119077307G>A	ENST00000371410.3	-	1	428	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	88	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R88W(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GGGATGCCCCGGGGCGCAGAG	0.652																																						uc004esh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(262-264)CGG>TGG		NFKB activating protein							36.0	37.0	37.0					X																	119077307		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077307G>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.262C>T	X.37:g.119077307G>A	ENSP00000360464:p.Arg88Trp						p.R88W	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			1	429	-			88			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.262C>T	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	g	8.982	0.975458	0.18736	.	.	ENSG00000101882	ENST00000371410	T	0.16196	2.36	4.0	2.19	0.27852	.	0.799308	0.11763	N	0.531926	T	0.15089	0.0364	L	0.46157	1.445	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.23904	-1.0175	10	0.72032	D	0.01	-6.56	6.3276	0.21253	0.1087:0.1834:0.7078:0.0	.	88	Q8N5F7	NKAP_HUMAN	W	88	ENSP00000360464:R88W	ENSP00000360464:R88W	R	-	1	2	NKAP	118961335	0.071000	0.21146	0.001000	0.08648	0.004000	0.04260	2.033000	0.41136	0.473000	0.27368	0.544000	0.68410	CGG		PASS	0.652	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		14	23	14	23	---	---	---	---
SH2D1A	4068	broad.mit.edu	37	X	123504098	123504098	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:123504098C>A	ENST00000371139.4	+	3	573	c.274C>A	c.(274-276)Caa>Aaa	p.Q92K	SH2D1A_ENST00000360027.4_Missense_Mutation_p.Q92K|SH2D1A_ENST00000491950.1_3'UTR|SH2D1A_ENST00000477673.2_Nonsense_Mutation_p.S66*|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	92	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.Q92K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GAAGCCAGATCAAGGCATTGT	0.378																																						uc004euf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)CAA>AAA		SH2 domain protein 1A isoform 1							133.0	126.0	128.0					X																	123504098		2203	4300	6503	SO:0001583	missense	4068	X-linked_Lymphoproliferative_syndrome			cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123504098C>A	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.274C>A	X.37:g.123504098C>A	ENSP00000360181:p.Gln92Lys					SH2D1A_uc004euh.3_Missense_Mutation_p.Q92K|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_RNA	p.Q92K	NM_002351	NP_002342	O60880	SH21A_HUMAN			3	619	+			92			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.274C>A	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265209	0.80358	.	.	ENSG00000183918	ENST00000371139;ENST00000360027	D;D	0.98585	-5.01;-5.01	5.23	5.23	0.72850	SH2 motif (3);	0.058656	0.64402	D	0.000001	D	0.98541	0.9513	L	0.58354	1.805	0.53688	D	0.99997	D;D	0.69078	0.997;0.996	D;D	0.81914	0.995;0.98	D	0.99868	1.1092	10	0.62326	D	0.03	-21.5495	16.7551	0.85497	0.0:1.0:0.0:0.0	.	92;92	O60880-4;O60880	.;SH21A_HUMAN	K	92	ENSP00000360181:Q92K;ENSP00000353126:Q92K	ENSP00000353126:Q92K	Q	+	1	0	SH2D1A	123331779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	2.160000	0.67779	0.594000	0.82650	CAA		PASS	0.378	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		79	93	79	93	---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967583	142967583	+	Silent	SNP	G	G	A			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:142967583G>A	ENST00000370494.1	+	1	411	c.381G>A	c.(379-381)gtG>gtA	p.V127V		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	127						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.V127V(3)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGATGTAGTGGAGCAGTGGA	0.448																																						uc004fca.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(379-381)GTG>GTA		ubiquitin-conjugating enzyme E2N-like							145.0	120.0	128.0					X																	142967583		2203	4300	6503	SO:0001819	synonymous_variant	389898						acid-amino acid ligase activity	g.chrX:142967583G>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.381G>A	X.37:g.142967583G>A							p.V127V	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	411	+	Acute lymphoblastic leukemia(192;6.56e-05)		127					E9KL27	Silent	SNP	ENST00000370494.1	37	c.381G>A	CCDS35420.1																																																																																				PASS	0.448	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		48	88	48	88	---	---	---	---
VAMP7	6845	broad.mit.edu	37	X	155127868	155127868	+	Silent	SNP	A	A	G			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chrX:155127868A>G	ENST00000286448.6	+	4	462	c.297A>G	c.(295-297)ccA>ccG	p.P99P	VAMP7_ENST00000460621.1_Silent_p.P58P|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Silent_p.P99P	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	99	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.P99P(2)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGCACTTCCATATGCCATGA	0.393																																						uc004fnr.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(295-297)CCA>CCG		vesicle-associated membrane protein 7 isoform 1							250.0	235.0	240.0					X																	155127868		2203	4296	6499	SO:0001819	synonymous_variant	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155127868A>G	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.297A>G	X.37:g.155127868A>G						VAMP7_uc004fnt.2_Silent_p.P58P|VAMP7_uc011naa.1_Silent_p.P60P|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Silent_p.P99P|VAMP7_uc011nac.1_Silent_p.P32P	p.P99P	NM_005638	NP_005629	P51809	VAMP7_HUMAN			4	471	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		99			Longin.|Cytoplasmic (Potential).		Q53GY7|Q7Z409|Q9H4A7	Silent	SNP	ENST00000286448.6	37	c.297A>G	CCDS14770.4																																																																																				PASS	0.393	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		64	151	64	151	---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7805100	7805100	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr12:7805100delG	ENST00000229304.4	-	3	396	c.376delC	c.(376-378)caafs	p.Q126fs		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	126					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGCCGATTTTGTTGATCCATG	0.438																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			0					0						c.(376-378)CAAfs		apolipoprotein B mRNA editing enzyme							81.0	76.0	78.0					12																	7805100		2203	4300	6503	SO:0001589	frameshift_variant	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805100delG	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.376delC	12.37:g.7805100delG	ENSP00000229304:p.Gln126fs					APOBEC1_uc001qtc.2_Frame_Shift_Del_p.Q81fs|APOBEC1_uc010sgf.1_Frame_Shift_Del_p.Q126fs	p.Q126fs	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	410	-			126					Q9UE64|Q9UM71	Frame_Shift_Del	DEL	ENST00000229304.4	37	c.376delC	CCDS8579.1																																																																																					0.438	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		104	99	104	99	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57768092	57768092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-1016-01A-01D-1521-08	TCGA-22-1016-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	935b113e-f5ed-4a07-8e1d-1603daba7f40	1845bc27-c3d3-4254-909c-2dc91f9e296b	g.chr20:57768092delC	ENST00000371030.2	+	1	2018	c.2018delC	c.(2017-2019)accfs	p.T673fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	673							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACAGTCCCCACCCAAGACAGG	0.612																																						uc002yan.2																			0				skin(13)|ovary(1)	14						c.(2017-2019)ACCfs		zinc finger protein 831							36.0	45.0	42.0					20																	57768092		2074	4212	6286	SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768092delC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2018delC	20.37:g.57768092delC	ENSP00000360069:p.Thr673fs						p.T673fs	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2018	+	all_lung(29;0.0085)		673					Q5TDR4|Q8TCP0	Frame_Shift_Del	DEL	ENST00000371030.2	37	c.2018delC	CCDS42894.1																																																																																					0.612	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		41	19	41	19	---	---	---	---
