#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
CHD5	26038	broad.mit.edu	37	1	6196612	6196612	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:6196612G>A	ENST00000262450.3	-	17	2760	c.2661C>T	c.(2659-2661)ttC>ttT	p.F887F	CHD5_ENST00000378021.1_5'UTR	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.F887F(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)		TGAGGAGATGGAACAGCTCCT	0.542																																						uc001amb.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(2659-2661)TTC>TTT		chromodomain helicase DNA binding protein 5							82.0	89.0	87.0					1																	6196612		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6196612G>A	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.2661C>T	1.37:g.6196612G>A						CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.F887F	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)	17	2761	-	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)	887			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2661C>T	CCDS57.1																																																																																				PASS	0.542	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		11	216	11	216	---	---	---	---
CA6	765	broad.mit.edu	37	1	9017275	9017275	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:9017275C>A	ENST00000377443.2	+	3	343	c.339C>A	c.(337-339)caC>caA	p.H113Q	CA6_ENST00000377436.3_Missense_Mutation_p.H113Q|CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Missense_Mutation_p.H53Q	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	113					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.H113Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGCACTTTCACTGGGGAGGTG	0.592																																						uc001apm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(337-339)CAC>CAA		carbonic anhydrase VI precursor							92.0	77.0	82.0					1																	9017275		2203	4300	6503	SO:0001583	missense	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9017275C>A	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.339C>A	1.37:g.9017275C>A	ENSP00000366662:p.His113Gln					CA6_uc009vmn.2_Missense_Mutation_p.H53Q	p.H113Q	NM_001215	NP_001206	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	3	363	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	113				Zinc; catalytic.	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.339C>A	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877864	0.51801	.	.	ENSG00000131686	ENST00000549778;ENST00000377443;ENST00000377436;ENST00000377442	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.22	4.32	0.51571	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91978	0.5592	10	0.87932	D	0	.	10.3145	0.43729	0.0:0.9081:0.0:0.0919	.	53;113	E7EMQ1;P23280	.;CAH6_HUMAN	Q	81;113;113;53	ENSP00000447108:H81Q;ENSP00000366662:H113Q;ENSP00000366654:H113Q;ENSP00000366661:H53Q	ENSP00000366654:H113Q	H	+	3	2	CA6	8939862	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	1.713000	0.37951	1.334000	0.45468	-0.252000	0.11476	CAC		PASS	0.592	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			16	72	16	72	---	---	---	---
EXOSC10	5394	broad.mit.edu	37	1	11151198	11151198	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:11151198G>C	ENST00000376936.4	-	5	565	c.516C>G	c.(514-516)ttC>ttG	p.F172L	EXOSC10_ENST00000544779.1_Missense_Mutation_p.F172L|EXOSC10_ENST00000304457.7_Missense_Mutation_p.F172L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	172					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F172L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GAAGCAGCCGGAAAGTTTCAG	0.343																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(514-516)TTC>TTG		exosome component 10 isoform 1							182.0	179.0	180.0					1																	11151198		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11151198G>C	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.516C>G	1.37:g.11151198G>C	ENSP00000366135:p.Phe172Leu					EXOSC10_uc001asb.2_Missense_Mutation_p.F172L|EXOSC10_uc009vmy.1_Missense_Mutation_p.F172L	p.F172L	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	5	566	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	172					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.516C>G	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001006	0.54254	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.73	3.87	0.44632	.	0.044184	0.85682	D	0.000000	T	0.56601	0.1996	M	0.62723	1.935	0.58432	D	0.999998	B;B	0.28208	0.203;0.129	B;B	0.29176	0.099;0.046	T	0.52697	-0.8541	9	0.35671	T	0.21	-28.7176	9.2862	0.37758	0.2187:0.0:0.7813:0.0	.	172;172	Q01780-2;Q01780	.;EXOSX_HUMAN	L	172	.	ENSP00000307307:F172L	F	-	3	2	EXOSC10	11073785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.696000	0.47052	0.890000	0.36211	0.655000	0.94253	TTC		PASS	0.343	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		32	225	32	225	---	---	---	---
C1QC	714	broad.mit.edu	37	1	22974057	22974057	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:22974057G>A	ENST00000374639.3	+	3	637	c.519G>A	c.(517-519)tcG>tcA	p.S173S	C1QC_ENST00000374640.4_Silent_p.S173S|C1QC_ENST00000374637.1_Silent_p.S173S	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	173	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S173S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCACGCGTCGCATACAGCCA	0.582																																					Ovarian(26;671 750 8290 29071 43278)	uc001bgc.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)TCG>TCA		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						98.0	87.0	91.0					1																	22974057		2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22974057G>A	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.519G>A	1.37:g.22974057G>A						C1QC_uc001bga.3_Silent_p.S173S|C1QC_uc001bgb.2_Silent_p.S173S	p.S173S	NM_172369	NP_758957	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	622	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	173			C1q.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.519G>A	CCDS227.1																																																																																				PASS	0.582	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		4	112	4	112	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24400709	24400709	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:24400709G>C	ENST00000374434.3	-	23	3071	c.2909C>G	c.(2908-2910)tCa>tGa	p.S970*	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Nonsense_Mutation_p.S970*|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Nonsense_Mutation_p.S971*	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	970						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.S970*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTATGACTGAGTAGGTGCC	0.582																																						uc001bin.3																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2908-2910)TCA>TGA		myomesin family, member 3							110.0	111.0	111.0					1																	24400709		2023	4194	6217	SO:0001587	stop_gained	127294							g.chr1:24400709G>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2909C>G	1.37:g.24400709G>C	ENSP00000363557:p.Ser970*					MYOM3_uc001bim.3_Nonsense_Mutation_p.S627*|MYOM3_uc001bio.2_Nonsense_Mutation_p.S970*	p.S970*	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	23	3072	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	970					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Nonsense_Mutation	SNP	ENST00000374434.3	37	c.2909C>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	43	10.294919	0.99377	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	.	.	.	5.81	5.81	0.92471	.	0.065721	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.259	0.90028	0.0:0.0:1.0:0.0	.	.	.	.	X	970;971;970	.	ENSP00000328415:S970X	S	-	2	0	MYOM3	24273296	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	7.738000	0.84966	2.736000	0.93811	0.655000	0.94253	TCA		PASS	0.582	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		22	90	22	90	---	---	---	---
RHCE	6006	broad.mit.edu	37	1	25715488	25715488	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:25715488G>A	ENST00000294413.7	-	6	976	c.918C>T	c.(916-918)atC>atT	p.I306I	RHCE_ENST00000425135.1_Intron|RHCE_ENST00000340849.4_Silent_p.I201I|RHCE_ENST00000413854.1_Silent_p.I306I|RHCE_ENST00000243186.6_Silent_p.I306I|RHCE_ENST00000374352.2_Silent_p.I290I|RHCE_ENST00000455194.1_Silent_p.I201I|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000349438.4_Silent_p.I306I|RHCE_ENST00000349320.3_Silent_p.I290I	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	306						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.I306I(1)		endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTCCCCCGATGGAGATCA	0.607																																						uc001bkf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(916-918)ATC>ATT		Rhesus blood group, CcEe antigens isoform 1							121.0	94.0	103.0					1																	25715488		2203	4300	6503	SO:0001819	synonymous_variant	6006					integral to plasma membrane		g.chr1:25715488G>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.918C>T	1.37:g.25715488G>A						RHCE_uc001bkg.2_Silent_p.I306I|RHCE_uc001bkh.2_Silent_p.I201I|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Silent_p.I290I	p.I306I	NM_020485	NP_065231	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	6	1004	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	306			Helical; (Potential).		A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Silent	SNP	ENST00000294413.7	37	c.918C>T	CCDS30635.1																																																																																				PASS	0.607	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		7	43	7	43	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27099425	27099425	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:27099425T>C	ENST00000324856.7	+	14	4033	c.3662T>C	c.(3661-3663)aTg>aCg	p.M1221T	ARID1A_ENST00000457599.2_Missense_Mutation_p.M1221T|ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000374152.2_Missense_Mutation_p.M838T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1221					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1220fs*9(1)|p.M1220fs*2(1)|p.M1221T(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTGACATGATGGGGCGCATG	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		3	Deletion - Frameshift(2)|Substitution - Missense(1)	p.M1220fs*9(1)|p.M1220fs*2(1)	ovary(2)|lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3661-3663)ATG>ACG		AT rich interactive domain 1A isoform a							100.0	103.0	102.0					1																	27099425		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099425T>C	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3662T>C	1.37:g.27099425T>C	ENSP00000320485:p.Met1221Thr					ARID1A_uc001bmt.1_Missense_Mutation_p.M1220T|ARID1A_uc001bmu.1_Missense_Mutation_p.M1221T|ARID1A_uc001bmw.1_Missense_Mutation_p.M838T|ARID1A_uc001bmx.1_Missense_Mutation_p.M67T|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.M1221T	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	14	4035	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1221					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3662T>C	CCDS285.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837384	0.32513	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02552	4.44;4.25;4.27	5.34	5.34	0.76211	.	0.113630	0.85682	D	0.000000	T	0.04318	0.0119	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.43231	0.774;0.801;0.774;0.665	B;B;B;B	0.37780	0.236;0.258;0.16;0.077	T	0.52719	-0.8538	10	0.37606	T	0.19	-7.8577	15.4919	0.75611	0.0:0.0:0.0:1.0	.	838;1221;1221;874	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	T	1221;1221;838	ENSP00000320485:M1221T;ENSP00000387636:M1221T;ENSP00000363267:M838T	ENSP00000320485:M1221T	M	+	2	0	ARID1A	26972012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.591000	0.53986	2.253000	0.74438	0.533000	0.62120	ATG		PASS	0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	79	10	79	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41976541	41976541	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:41976541C>G	ENST00000372583.1	-	9	7687	c.6802G>C	c.(6802-6804)Gag>Cag	p.E2268Q	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2268Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2267Q|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E2267Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2268					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E2268Q(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCCTCCAGCTCTGAGGAGAGT	0.687																																						uc001cgz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(6802-6804)GAG>CAG		human immunodeficiency virus type I enhancer							31.0	35.0	33.0					1																	41976541		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976541C>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6802G>C	1.37:g.41976541C>G	ENSP00000361664:p.Glu2268Gln					HIVEP3_uc001cha.3_Missense_Mutation_p.E2267Q|HIVEP3_uc001cgy.2_RNA	p.E2268Q	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			9	8015	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2268					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6802G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482892	0.63962	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	5.27	4.35	0.52113	.	0.000000	0.48767	D	0.000169	T	0.13756	0.0333	L	0.27053	0.805	0.29187	N	0.876137	D;D	0.67145	0.996;0.994	P;P	0.62184	0.899;0.795	T	0.01743	-1.1283	10	0.62326	D	0.03	-18.1023	10.0019	0.41933	0.1554:0.6948:0.1498:0.0	.	2267;2268	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	2267;2268;2268;2267	ENSP00000361665:E2267Q;ENSP00000361664:E2268Q;ENSP00000247584:E2268Q;ENSP00000410828:E2267Q	ENSP00000247584:E2268Q	E	-	1	0	HIVEP3	41749128	0.999000	0.42202	1.000000	0.80357	0.916000	0.54674	3.455000	0.52993	1.438000	0.47492	-0.314000	0.08810	GAG		PASS	0.687	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		10	53	10	53	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45307547	45307547	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:45307547C>G	ENST00000372192.3	-	2	367	c.237G>C	c.(235-237)gaG>gaC	p.E79D	PTCH2_ENST00000447098.2_Missense_Mutation_p.E79D	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	79					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.E79D(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCAAGTTTGTCTCAATAATGG	0.547									Basal Cell Nevus syndrome																													uc010olf.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(235-237)GAG>GAC		patched 2							97.0	93.0	94.0					1																	45307547		2203	4300	6503	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45307547C>G	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.237G>C	1.37:g.45307547C>G	ENSP00000361266:p.Glu79Asp					PTCH2_uc010olg.1_5'UTR	p.E79D	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			2	249	-	Acute lymphoblastic leukemia(166;0.155)		79			Extracellular (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.237G>C	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725493	0.48833	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.94862	-3.53;-3.54	4.49	2.6	0.31112	.	0.000000	0.48286	D	0.000187	D	0.96500	0.8858	M	0.85197	2.74	0.41375	D	0.987514	D	0.71674	0.998	D	0.65443	0.935	D	0.95205	0.8320	10	0.46703	T	0.11	-8.6068	10.0725	0.42341	0.0:0.8296:0.0:0.1704	.	79	Q9Y6C5	PTC2_HUMAN	D	79	ENSP00000389703:E79D;ENSP00000361266:E79D	ENSP00000361266:E79D	E	-	3	2	PTCH2	45080134	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.574000	0.46016	0.515000	0.28320	-0.291000	0.09656	GAG		PASS	0.547	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		22	132	22	132	---	---	---	---
TTC4	7268	broad.mit.edu	37	1	55207145	55207145	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:55207145A>C	ENST00000371281.3	+	10	1210	c.1123A>C	c.(1123-1125)Aag>Cag	p.K375Q	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	375								p.K375Q(1)		breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						TCCTTTTTGCAAGAATTTTCT	0.488																																						uc001cxx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1123-1125)AAG>CAG		tetratricopeptide repeat domain 4							117.0	122.0	120.0					1																	55207145		2203	4300	6503	SO:0001583	missense	7268						binding	g.chr1:55207145A>C		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.1123A>C	1.37:g.55207145A>C	ENSP00000360329:p.Lys375Gln					C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Missense_Mutation_p.K276Q|TTC4_uc001cxv.2_Missense_Mutation_p.K386Q	p.K375Q	NM_004623	NP_004614	O95801	TTC4_HUMAN			10	1176	+			375					Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	c.1123A>C	CCDS596.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310119	0.23821	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.02085	4.46	5.2	4.06	0.47325	.	.	.	.	.	T	0.02970	0.0088	L	0.52759	1.655	0.09310	N	1	B;B	0.24426	0.025;0.103	B;B	0.21151	0.021;0.033	T	0.42899	-0.9424	9	0.15066	T	0.55	-3.652	11.5778	0.50873	0.8504:0.1496:0.0:0.0	.	375;386	O95801;Q5TA95	TTC4_HUMAN;.	Q	375;386	ENSP00000360329:K375Q	ENSP00000360329:K375Q	K	+	1	0	TTC4	54979733	0.999000	0.42202	0.038000	0.18304	0.473000	0.32948	6.202000	0.72131	1.081000	0.41110	0.533000	0.62120	AAG		PASS	0.488	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		41	208	41	208	---	---	---	---
BSND	7809	broad.mit.edu	37	1	55464892	55464892	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:55464892C>T	ENST00000371265.4	+	1	287	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	11					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.F11F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GGATCGGCTTCATTGTGCTGG	0.622																																					Ovarian(191;1657 2078 22894 42033 48899)	uc001cye.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(31-33)TTC>TTT		barttin							112.0	107.0	108.0					1																	55464892		2203	4300	6503	SO:0001819	synonymous_variant	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55464892C>T	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.33C>T	1.37:g.55464892C>T							p.F11F	NM_057176	NP_476517	Q8WZ55	BSND_HUMAN			1	276	+			11			Helical; (Potential).		Q6NT28	Silent	SNP	ENST00000371265.4	37	c.33C>T	CCDS602.1																																																																																				PASS	0.622	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		9	121	9	121	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63090929	63090929	+	Splice_Site	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:63090929C>A	ENST00000340370.5	-	12	1443		c.e12+1		DOCK7_ENST00000251157.5_Splice_Site|DOCK7_ENST00000404627.2_Splice_Site	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAGAACAATACCTGCTTAAAA	0.383																																						uc001daq.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e12+1		dedicator of cytokinesis 7							115.0	117.0	116.0					1																	63090929		2203	4300	6503	SO:0001630	splice_region_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63090929C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1425+1G>T	1.37:g.63090929C>A						DOCK7_uc001dan.2_Splice_Site_p.Q367_splice|DOCK7_uc001dao.2_Splice_Site_p.Q367_splice|DOCK7_uc001dap.2_Splice_Site_p.Q475_splice|DOCK7_uc009wah.1_Splice_Site_p.Q475_splice	p.Q475_splice	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			12	1459	-								Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Splice_Site	SNP	ENST00000340370.5	37	c.1425_splice	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289897	0.80914	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6705	0.88216	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK7	62863517	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.184000	0.77705	2.386000	0.81285	0.467000	0.42956	.		PASS	0.383	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	Intron	31	203	31	203	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70257790	70257790	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:70257790C>A	ENST00000035383.5	+	2	284	c.254C>A	c.(253-255)cCa>cAa	p.P85Q	LRRC7_ENST00000370958.1_Missense_Mutation_p.P123Q|LRRC7_ENST00000310961.5_Missense_Mutation_p.P90Q|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	85						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P85Q(1)|p.P123Q(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAATCTGCCAACCACTATT	0.294																																						uc001dep.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(253-255)CCA>CAA		leucine rich repeat containing 7							100.0	109.0	106.0					1																	70257790		2202	4297	6499	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70257790C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.254C>A	1.37:g.70257790C>A	ENSP00000035383:p.Pro85Gln					LRRC7_uc001deo.1_Missense_Mutation_p.P123Q|LRRC7_uc009wbg.2_5'UTR	p.P85Q	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			2	284	+			85			LRR 3.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.254C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537352	0.85812	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.61627	1.31;0.09;1.44	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.80959	0.4724	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85787	0.1365	10	0.87932	D	0	.	17.2927	0.87162	0.0:1.0:0.0:0.0	.	85;123	Q96NW7;B1AKT2	LRRC7_HUMAN;.	Q	90;123;85;85	ENSP00000309245:P90Q;ENSP00000359997:P123Q;ENSP00000035383:P85Q	ENSP00000035383:P85Q	P	+	2	0	LRRC7	70030378	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.229000	0.78088	2.683000	0.91414	0.561000	0.74099	CCA		PASS	0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		20	166	20	166	---	---	---	---
PTGER3	5733	broad.mit.edu	37	1	71513140	71513140	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:71513140G>C	ENST00000306666.5	-	1	331	c.121C>G	c.(121-123)Cca>Gca	p.P41A	PTGER3_ENST00000370931.3_Missense_Mutation_p.P41A|PTGER3_ENST00000356595.4_Missense_Mutation_p.P41A|PTGER3_ENST00000370932.2_Missense_Mutation_p.P41A|PTGER3_ENST00000414819.1_Missense_Mutation_p.P41A|PTGER3_ENST00000354608.5_Missense_Mutation_p.P41A|PTGER3_ENST00000460330.1_Missense_Mutation_p.P41A|PTGER3_ENST00000351052.5_Missense_Mutation_p.P41A|PTGER3_ENST00000370924.4_Missense_Mutation_p.P41A|ZRANB2-AS1_ENST00000450461.1_RNA	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	41					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.P41A(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CCAGACCCTGGAGGGCGCGTG	0.677																																						uc001dfg.1																			5	Substitution - Missense(5)		lung(5)	pancreas(1)|lung(1)|skin(1)	3						c.(121-123)CCA>GCA		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						18.0	20.0	19.0					1																	71513140		2200	4289	6489	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71513140G>C	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.121C>G	1.37:g.71513140G>C	ENSP00000302313:p.Pro41Ala					PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.P41A|PTGER3_uc001dfl.1_Missense_Mutation_p.P41A|PTGER3_uc009wbm.1_Missense_Mutation_p.P41A|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.P41A|PTGER3_uc009wbn.1_Missense_Mutation_p.P41A|PTGER3_uc009wbo.2_Missense_Mutation_p.P41A|PTGER3_uc001dfo.2_Missense_Mutation_p.P41A|PTGER3_uc001dfp.1_Missense_Mutation_p.P41A|PTGER3_uc001dfq.2_Missense_Mutation_p.P41A|uc001dfr.2_RNA	p.P41A	NM_198714	NP_942007	P43115	PE2R3_HUMAN			1	352	-			41			Extracellular (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.121C>G	CCDS657.1	.	.	.	.	.	.	.	.	.	.	G	8.639	0.895546	0.17686	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	4.43	-2.72	0.05968	.	0.915893	0.09381	N	0.809965	T	0.04861	0.0131	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B	0.21147	0.005;0.0;0.052;0.005;0.005;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.19946	0.004;0.0;0.027;0.004;0.003;0.001;0.001;0.0	T	0.37888	-0.9686	10	0.13470	T	0.59	-3.5729	1.6201	0.02711	0.2438:0.2507:0.3774:0.1281	.	41;41;41;41;41;41;41;41	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	A	41	ENSP00000359969:P41A;ENSP00000359970:P41A;ENSP00000280208:P41A;ENSP00000418073:P41A;ENSP00000346624:P41A;ENSP00000349003:P41A;ENSP00000401423:P41A;ENSP00000302313:P41A;ENSP00000359962:P41A	ENSP00000302313:P41A	P	-	1	0	PTGER3	71285728	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	-0.855000	0.04295	-0.643000	0.05473	0.462000	0.41574	CCA		PASS	0.677	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		3	16	3	16	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75693535	75693535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:75693535C>T	ENST00000370855.5	-	13	974	c.861G>A	c.(859-861)tgG>tgA	p.W287*	SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.W287*|SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.W157*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	287					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W287*(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGTAACAGTGCCATATTCCTT	0.333																																						uc001dgu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(859-861)TGG>TGA		solute carrier family 44, member 5 isoform A							96.0	91.0	93.0					1																	75693535		2203	4300	6503	SO:0001587	stop_gained	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75693535C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.861G>A	1.37:g.75693535C>T	ENSP00000359892:p.Trp287*					SLC44A5_uc001dgt.2_Nonsense_Mutation_p.W287*|SLC44A5_uc001dgs.2_Nonsense_Mutation_p.W245*|SLC44A5_uc001dgr.2_Nonsense_Mutation_p.W245*|SLC44A5_uc010oqz.1_Nonsense_Mutation_p.W326*|SLC44A5_uc010ora.1_Nonsense_Mutation_p.W281*|SLC44A5_uc010orb.1_Nonsense_Mutation_p.W157*	p.W287*	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			13	1005	-			287			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Nonsense_Mutation	SNP	ENST00000370855.5	37	c.861G>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	36	5.893895	0.97074	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	.	.	.	6.05	4.08	0.47627	.	0.060309	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-2.6261	13.3306	0.60485	0.1265:0.7521:0.1214:0.0	.	.	.	.	X	287;326;287;157;280	.	ENSP00000359892:W287X	W	-	3	0	SLC44A5	75466123	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	1.076000	0.30729	1.529000	0.49120	0.650000	0.86243	TGG		PASS	0.333	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		9	55	9	55	---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82409190	82409190	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:82409190C>T	ENST00000370728.1	+	8	1580	c.935C>T	c.(934-936)tCa>tTa	p.S312L	LPHN2_ENST00000370721.1_Missense_Mutation_p.S316L|LPHN2_ENST00000335786.5_Missense_Mutation_p.S312L|LPHN2_ENST00000370727.1_Missense_Mutation_p.S312L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.S312L|LPHN2_ENST00000370723.1_Missense_Mutation_p.S312L|LPHN2_ENST00000370725.1_Missense_Mutation_p.S312L|LPHN2_ENST00000370730.1_Missense_Mutation_p.S312L|LPHN2_ENST00000370717.2_Missense_Mutation_p.S312L|LPHN2_ENST00000370713.1_Missense_Mutation_p.S312L|LPHN2_ENST00000370715.1_Missense_Mutation_p.S312L|LPHN2_ENST00000394879.1_Missense_Mutation_p.S312L|LPHN2_ENST00000319517.6_Missense_Mutation_p.S312L|LPHN2_ENST00000359929.3_Missense_Mutation_p.S312L			O95490	LPHN2_HUMAN	latrophilin 2	312	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.S312L(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGTGCCGCATCAAATGCTTTT	0.383																																						uc001dit.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(934-936)TCA>TTA		latrophilin 2 precursor							121.0	116.0	118.0					1																	82409190		2203	4299	6502	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409190C>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.935C>T	1.37:g.82409190C>T	ENSP00000359763:p.Ser312Leu					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.S312L|LPHN2_uc001div.2_Missense_Mutation_p.S312L|LPHN2_uc009wcd.2_Missense_Mutation_p.S312L	p.S312L	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	1116	+			312			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.935C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.087824|4.087824	0.76642|0.76642	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89746	.|-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.92932	.|0.7751	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.76071	.|0.987;0.94;0.982	.|D	.|0.91061	.|0.4885	.|10	.|0.33940	.|T	.|0.23	.|.	19.1844|19.1844	0.93637|0.93637	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|312;312;312	.|O95490-3;O95490-4;O95490-2	.|.;.;.	X|L	180|316;312;312;312;312;312;312;312;312;312;312;312;312;312	.|ENSP00000359756:S316L;ENSP00000359763:S312L;ENSP00000359765:S312L;ENSP00000359762:S312L;ENSP00000359760:S312L;ENSP00000359758:S312L;ENSP00000353006:S312L;ENSP00000359750:S312L;ENSP00000359748:S312L;ENSP00000322270:S312L;ENSP00000359752:S312L;ENSP00000378344:S312L;ENSP00000271029:S312L;ENSP00000337306:S312L	.|ENSP00000271029:S312L	Q|S	+|+	1|2	0|0	LPHN2|LPHN2	82181778|82181778	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.991000|0.991000	0.79684|0.79684	7.423000|7.423000	0.80229|0.80229	2.520000|2.520000	0.84964|0.84964	0.455000|0.455000	0.32223|0.32223	CAA|TCA		PASS	0.383	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		14	178	14	178	---	---	---	---
CCBL2	56267	broad.mit.edu	37	1	89430565	89430565	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:89430565C>T	ENST00000260508.4	-	5	737	c.400G>A	c.(400-402)Gca>Aca	p.A134T	CCBL2_ENST00000370485.2_Missense_Mutation_p.A134T|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.A100T	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	134					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.A100T(1)|p.A134T(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		GATCCATATGCTCCTACTGTC	0.328																																						uc001dmp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(400-402)GCA>ACA		kynurenine aminotransferase III isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						97.0	91.0	93.0					1																	89430565		2203	4297	6500	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89430565C>T	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.400G>A	1.37:g.89430565C>T	ENSP00000260508:p.Ala134Thr					CCBL2_uc001dmq.2_Missense_Mutation_p.A100T|CCBL2_uc001dmr.2_5'UTR	p.A134T	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	5	777	-		Lung NSC(277;0.123)	134					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.400G>A	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616039	0.96649	.	.	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370485;ENST00000370486	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.43	5.43	0.79202	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.102433	0.64402	D	0.000003	T	0.72938	0.3523	H	0.94503	3.545	0.54753	D	0.999988	D	0.67145	0.996	P	0.62382	0.901	T	0.81695	-0.0816	10	0.87932	D	0	-16.0268	19.2151	0.93774	0.0:1.0:0.0:0.0	.	134	Q6YP21	KAT3_HUMAN	T	100;134;134;134	ENSP00000359522:A100T;ENSP00000260508:A134T;ENSP00000359516:A134T;ENSP00000359517:A134T	ENSP00000260508:A134T	A	-	1	0	CCBL2	89203153	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.085000	0.76875	2.542000	0.85734	0.585000	0.79938	GCA		PASS	0.328	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		16	107	16	107	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92181880	92181880	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:92181880G>C	ENST00000525962.1	-	11	1840	c.1779C>G	c.(1777-1779)ttC>ttG	p.F593L	TGFBR3_ENST00000212355.4_Missense_Mutation_p.F593L|TGFBR3_ENST00000370399.2_Missense_Mutation_p.F592L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	593	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.F593L(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCTCCATGTTGAAGGTGATGT	0.493																																						uc001doh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1777-1779)TTC>TTG		transforming growth factor, beta receptor III							168.0	165.0	166.0					1																	92181880		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92181880G>C	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1779C>G	1.37:g.92181880G>C	ENSP00000436127:p.Phe593Leu					TGFBR3_uc009wde.2_Missense_Mutation_p.F370L|TGFBR3_uc010osy.1_Missense_Mutation_p.F551L|TGFBR3_uc001doi.2_Missense_Mutation_p.F592L|TGFBR3_uc001doj.2_Missense_Mutation_p.F592L	p.F593L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	12	2245	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	593			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1779C>G	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139085	0.77775	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.55	5.55	0.83447	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	M	0.67953	2.075	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.82141	-0.0604	10	0.29301	T	0.29	-19.8239	12.8	0.57580	0.0751:0.0:0.9249:0.0	.	593;592;593	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	L	593;592;593;592	ENSP00000212355:F593L;ENSP00000359426:F592L;ENSP00000436127:F593L;ENSP00000432638:F592L	ENSP00000212355:F593L	F	-	3	2	TGFBR3	91954468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.439000	0.52878	2.610000	0.88304	0.655000	0.94253	TTC		PASS	0.493	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		6	83	6	83	---	---	---	---
RPAP2	79871	broad.mit.edu	37	1	92846357	92846357	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:92846357G>A	ENST00000610020.1	+	12	1874	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	589					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.E589K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CACCCTCCTTGAAGAATTACA	0.363																																						uc001dot.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1765-1767)GAA>AAA		RNA polymerase II associated protein 2							129.0	129.0	129.0					1																	92846357		2203	4300	6503	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92846357G>A	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1765G>A	1.37:g.92846357G>A	ENSP00000476948:p.Glu589Lys					RPAP2_uc009wdh.2_RNA	p.E589K	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	12	1874	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	589					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.1765G>A	CCDS740.1	.	.	.	.	.	.	.	.	.	.	G	9.087	1.000783	0.19121	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.74	-0.483	0.12075	.	0.548731	0.20668	N	0.087886	T	0.10465	0.0256	N	0.14661	0.345	0.23320	N	0.997911	B	0.11235	0.004	B	0.10450	0.005	T	0.21999	-1.0229	8	0.23302	T	0.38	0.0942	9.0193	0.36191	0.4811:0.0:0.5189:0.0	.	589	Q8IXW5	RPAP2_HUMAN	K	589	.	ENSP00000359368:E589K	E	+	1	0	RPAP2	92618945	0.738000	0.28186	0.377000	0.26055	0.693000	0.40251	0.750000	0.26334	-0.118000	0.11851	0.650000	0.86243	GAA		PASS	0.363	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		41	200	41	200	---	---	---	---
ARHGAP29	9411	broad.mit.edu	37	1	94640064	94640064	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:94640064C>G	ENST00000260526.6	-	23	3329	c.3147G>C	c.(3145-3147)aaG>aaC	p.K1049N	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1049					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.K1049N(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGGCAGGATTCTTGCAAAACT	0.378																																						uc001dqj.3																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(3145-3147)AAG>AAC		PTPL1-associated RhoGAP 1							112.0	112.0	112.0					1																	94640064		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94640064C>G		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3147G>C	1.37:g.94640064C>G	ENSP00000260526:p.Lys1049Asn					ARHGAP29_uc009wdq.1_Intron	p.K1049N	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3516	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1049					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.3147G>C	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125513	0.37533	.	.	ENSG00000137962	ENST00000260526	T	0.24151	1.87	5.73	4.82	0.62117	.	0.181279	0.26903	N	0.021910	T	0.10551	0.0258	L	0.43152	1.355	0.80722	D	1	B	0.33413	0.411	B	0.26517	0.07	T	0.04320	-1.0960	10	0.59425	D	0.04	-9.7076	11.264	0.49099	0.0:0.8428:0.0:0.1572	.	1049	Q52LW3	RHG29_HUMAN	N	1049	ENSP00000260526:K1049N	ENSP00000260526:K1049N	K	-	3	2	ARHGAP29	94412652	0.999000	0.42202	0.755000	0.31263	0.605000	0.37080	1.330000	0.33781	1.435000	0.47434	0.591000	0.81541	AAG		PASS	0.378	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		20	248	20	248	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103343604	103343604	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:103343604C>T	ENST00000370096.3	-	67	5704	c.5392G>A	c.(5392-5394)Gaa>Aaa	p.E1798K	COL11A1_ENST00000512756.1_Missense_Mutation_p.E1682K|COL11A1_ENST00000358392.2_Missense_Mutation_p.E1810K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1759K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1798	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E1798K(1)|p.E1810K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAACTTCAAATCCGAAC	0.353																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(5392-5394)GAA>AAA		alpha 1 type XI collagen isoform A							106.0	103.0	104.0					1																	103343604		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103343604C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5392G>A	1.37:g.103343604C>T	ENSP00000359114:p.Glu1798Lys					COL11A1_uc001duk.2_Missense_Mutation_p.E994K|COL11A1_uc001dum.2_Missense_Mutation_p.E1810K|COL11A1_uc001dun.2_Missense_Mutation_p.E1759K|COL11A1_uc009weh.2_Missense_Mutation_p.E1682K	p.E1798K	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	67	5710	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1798			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.5392G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202832	0.79127	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.36	5.36	0.76844	Fibrillar collagen, C-terminal (4);	0.051634	0.85682	D	0.000000	T	0.82171	0.4979	M	0.88105	2.93	0.80722	D	1	P;P;P;P;P	0.50819	0.939;0.925;0.925;0.939;0.787	P;P;P;P;B	0.51453	0.67;0.54;0.54;0.67;0.359	D	0.83501	0.0075	10	0.46703	T	0.11	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	1682;1759;1810;1798;1018	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	K	1798;1810;1759;1018;1682	ENSP00000359114:E1798K;ENSP00000351163:E1810K;ENSP00000302551:E1759K;ENSP00000426533:E1682K	ENSP00000302551:E1759K	E	-	1	0	COL11A1	103116192	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.604000	0.82830	2.793000	0.96121	0.561000	0.74099	GAA		PASS	0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		23	152	23	152	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103488453	103488453	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:103488453C>T	ENST00000370096.3	-	8	1402	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.E376K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E325K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	364	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E364K(1)|p.E376K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCGTCTATTTCTTTGTTTTCA	0.358																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1090-1092)GAA>AAA		alpha 1 type XI collagen isoform A							71.0	71.0	71.0					1																	103488453		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488453C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1090G>A	1.37:g.103488453C>T	ENSP00000359114:p.Glu364Lys					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E376K|COL11A1_uc001dun.2_Missense_Mutation_p.E325K|COL11A1_uc009weh.2_Intron	p.E364K	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1408	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	364			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1090G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130287	0.21041	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88431	-2.34;-0.53;-2.38;-0.58	5.54	3.66	0.41972	.	0.823509	0.11024	N	0.608002	T	0.63319	0.2501	L	0.29908	0.895	0.26840	N	0.968406	B;B;B	0.12630	0.006;0.002;0.001	B;B;B	0.11329	0.006;0.005;0.003	T	0.49588	-0.8924	10	0.06365	T	0.9	.	9.5458	0.39279	0.0:0.7827:0.1425:0.0749	.	325;376;364	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	K	364;376;325;376	ENSP00000359114:E364K;ENSP00000351163:E376K;ENSP00000302551:E325K;ENSP00000408640:E376K	ENSP00000302551:E325K	E	-	1	0	COL11A1	103261041	0.989000	0.36119	0.992000	0.48379	0.984000	0.73092	0.878000	0.28126	0.695000	0.31675	0.549000	0.68633	GAA		PASS	0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		19	129	19	129	---	---	---	---
PRMT6	55170	broad.mit.edu	37	1	107600266	107600266	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:107600266C>T	ENST00000370078.1	+	1	966	c.929C>T	c.(928-930)tCg>tTg	p.S310L	PRMT6_ENST00000361318.5_Missense_Mutation_p.S251L			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	310	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)	p.S251L(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTGTCCACCTCGCCTTTTCAC	0.607																																						uc010ous.1																			1	Substitution - Missense(1)		lung(1)		0						c.(928-930)TCG>TTG		protein arginine methyltransferase 6							43.0	47.0	46.0					1																	107600266		1973	4154	6127	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107600266C>T	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.929C>T	1.37:g.107600266C>T	ENSP00000359095:p.Ser310Leu						p.S310L	NM_018137	NP_060607	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	1000	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	310					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.929C>T	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395410	0.62066	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	D;D	0.88509	-2.39;-2.39	5.51	4.58	0.56647	.	0.070917	0.64402	D	0.000018	D	0.88418	0.6431	M	0.80183	2.485	0.53005	D	0.999965	P	0.39181	0.663	P	0.45071	0.468	D	0.89765	0.3950	10	0.87932	D	0	-0.0388	13.349	0.60591	0.1589:0.8411:0.0:0.0	.	310	Q96LA8	ANM6_HUMAN	L	251;310	ENSP00000355145:S251L;ENSP00000359095:S310L	ENSP00000355145:S251L	S	+	2	0	PRMT6	107401789	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.700000	0.61803	1.279000	0.44446	0.442000	0.29010	TCG		PASS	0.607	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		12	101	12	101	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109795405	109795405	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:109795405C>T	ENST00000271332.3	+	1	2765	c.2704C>T	c.(2704-2706)Cgc>Tgc	p.R902C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	902	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R902C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCCCCAGCCCGCACACCTAT	0.552																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(2704-2706)CGC>TGC		cadherin EGF LAG seven-pass G-type receptor 2							77.0	73.0	74.0					1																	109795405		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795405C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2704C>T	1.37:g.109795405C>T	ENSP00000271332:p.Arg902Cys						p.R902C	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2765	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	902			Extracellular (Potential).|Cadherin 7.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2704C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	14.18	2.457110	0.43634	.	.	ENSG00000143126	ENST00000271332	T	0.52983	0.64	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.39759	0.1090	N	0.17082	0.46	0.44241	D	0.997081	D	0.89917	1.0	D	0.71414	0.973	T	0.39272	-0.9622	9	0.51188	T	0.08	.	11.5507	0.50719	0.3058:0.6942:0.0:0.0	.	902	Q9HCU4	CELR2_HUMAN	C	902	ENSP00000271332:R902C	ENSP00000271332:R902C	R	+	1	0	CELSR2	109596928	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.918000	0.48829	2.441000	0.82636	0.555000	0.69702	CGC		PASS	0.552	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	105	4	105	---	---	---	---
RAP1A	5906	broad.mit.edu	37	1	112246973	112246973	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:112246973G>A	ENST00000369709.3	+	6	512	c.333G>A	c.(331-333)atG>atA	p.M111I	RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.M111I|RAP1A_ENST00000436150.2_Missense_Mutation_p.M111I|RAP1A_ENST00000356415.1_Missense_Mutation_p.M111I	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	111					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.M111I(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		AGGTTCCAATGATTTTGGTTG	0.373																																						uc001ebi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)ATG>ATA		RAP1A, member of RAS oncogene family precursor							92.0	88.0	89.0					1																	112246973		2203	4300	6503	SO:0001583	missense	5906				activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr1:112246973G>A	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.333G>A	1.37:g.112246973G>A	ENSP00000358723:p.Met111Ile					RAP1A_uc001ebk.2_Missense_Mutation_p.M111I|RAP1A_uc001ebl.2_Missense_Mutation_p.M111I|RAP1A_uc001ebm.2_RNA	p.M111I	NM_002884	NP_002875	P62834	RAP1A_HUMAN		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)	6	437	+		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)	111					P10113	Missense_Mutation	SNP	ENST00000369709.3	37	c.333G>A	CCDS840.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864501	0.51482	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.28134	0.0694	N	0.01152	-0.98	0.80722	D	1	B	0.15141	0.012	B	0.34489	0.184	T	0.32428	-0.9907	10	0.27785	T	0.31	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	111	P62834	RAP1A_HUMAN	I	111	ENSP00000348786:M111I;ENSP00000396741:M111I;ENSP00000358723:M111I;ENSP00000394318:M111I;ENSP00000443009:M111I	ENSP00000348786:M111I	M	+	3	0	RAP1A	112048496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.809000	0.96659	0.655000	0.94253	ATG		PASS	0.373	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884		17	92	17	92	---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117631574	117631574	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:117631574A>G	ENST00000369466.4	+	13	2356	c.2312A>G	c.(2311-2313)aAc>aGc	p.N771S		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	771	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.N771S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCCATTCAAAACAACTTATTG	0.438																																						uc001egy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2311-2313)AAC>AGC		transcription termination factor, RNA polymerase							120.0	126.0	124.0					1																	117631574		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117631574A>G	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2312A>G	1.37:g.117631574A>G	ENSP00000358478:p.Asn771Ser						p.N771S	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	13	2332	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	771			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.2312A>G	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736407	0.89482	.	.	ENSG00000116830	ENST00000369466	D	0.94931	-3.56	5.94	5.94	0.96194	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.43260	D	0.000585	D	0.98576	0.9524	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99533	1.0961	10	0.87932	D	0	-31.6061	14.3596	0.66761	1.0:0.0:0.0:0.0	.	771	Q9UNY4	TTF2_HUMAN	S	771	ENSP00000358478:N771S	ENSP00000358478:N771S	N	+	2	0	TTF2	117433097	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.832000	0.92079	2.275000	0.75901	0.528000	0.53228	AAC		PASS	0.438	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			31	206	31	206	---	---	---	---
HSD3B2	3284	broad.mit.edu	37	1	119962195	119962195	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:119962195C>T	ENST00000543831.1	+	3	546	c.297C>T	c.(295-297)gtC>gtT	p.V99V	HSD3B2_ENST00000369416.3_Silent_p.V99V|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	99					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.V99V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TCATGAATGTCAATGTGAAAG	0.458																																						uc001ehs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(295-297)GTC>GTT		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						92.0	77.0	82.0					1																	119962195		2203	4300	6503	SO:0001819	synonymous_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119962195C>T	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.297C>T	1.37:g.119962195C>T						HSD3B2_uc001eht.2_Silent_p.V99V|HSD3B2_uc001ehu.2_Silent_p.V99V	p.V99V	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	2	1070	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	99					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	c.297C>T	CCDS902.1																																																																																				PASS	0.458	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		17	58	17	58	---	---	---	---
C1orf56	54964	broad.mit.edu	37	1	151020396	151020396	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:151020396G>A	ENST00000368926.5	+	1	181	c.73G>A	c.(73-75)Ggc>Agc	p.G25S		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	25						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G25S(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGGGCCCAAGGCCTGACCCA	0.711																																					GBM(146;891 3320 6873)	uc001ewn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)GGC>AGC		hypothetical protein LOC54964 precursor							10.0	12.0	11.0					1																	151020396		2189	4262	6451	SO:0001583	missense	54964					extracellular region		g.chr1:151020396G>A	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.73G>A	1.37:g.151020396G>A	ENSP00000357922:p.Gly25Ser						p.G25S	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	138	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		25					B2RDU8|Q9NWZ4	Missense_Mutation	SNP	ENST00000368926.5	37	c.73G>A	CCDS980.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597183	0.87055	.	.	ENSG00000143443	ENST00000368926;ENST00000433087	.	.	.	5.06	2.11	0.27256	.	0.975651	0.08385	N	0.953920	T	0.13243	0.0321	L	0.32530	0.975	0.09310	N	1	B	0.19583	0.037	B	0.18561	0.022	T	0.35251	-0.9796	9	0.62326	D	0.03	-6.7146	4.9179	0.13854	0.1893:0.1751:0.6355:0.0	.	25	Q9BUN1	CA056_HUMAN	S	25	.	ENSP00000357922:G25S	G	+	1	0	C1orf56	149287020	0.003000	0.15002	0.001000	0.08648	0.355000	0.29361	1.310000	0.33551	0.289000	0.22422	0.462000	0.41574	GGC		PASS	0.711	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		5	23	5	23	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127601	152127601	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:152127601G>T	ENST00000316073.3	-	3	2038	c.1974C>A	c.(1972-1974)caC>caA	p.H658Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	658	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.H658Q(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						GTTTGTGTTGGTGATGTTGGC	0.522																																						uc001ezs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1972-1974)CAC>CAA		repetin							272.0	218.0	234.0					1																	152127601		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127601G>T	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.1974C>A	1.37:g.152127601G>T	ENSP00000317895:p.His658Gln						p.H658Q	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	2039	-			658			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1974C>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	1.935	-0.445073	0.04604	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.13420	2.59	4.6	-3.33	0.04958	.	0.236105	0.21686	U	0.070641	T	0.02888	0.0086	L	0.51422	1.61	0.09310	N	0.999999	P	0.49961	0.93	B	0.41571	0.36	T	0.46331	-0.9199	10	0.17369	T	0.5	.	4.5442	0.12073	0.4091:0.3044:0.2865:0.0	.	658	Q6XPR3	RPTN_HUMAN	Q	658;313	ENSP00000317895:H658Q	ENSP00000317895:H658Q	H	-	3	2	RPTN	150394225	0.000000	0.05858	0.847000	0.33407	0.070000	0.16714	-0.294000	0.08309	-0.208000	0.10171	-0.148000	0.13756	CAC		PASS	0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		25	177	25	177	---	---	---	---
ADAR	103	broad.mit.edu	37	1	154574268	154574268	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:154574268T>C	ENST00000368474.4	-	2	1049	c.850A>G	c.(850-852)Aca>Gca	p.T284A	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.T327A|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	284					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T284A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AAGGCAGATGTGGAGTTGCTG	0.498																																						uc001ffh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(850-852)ACA>GCA		adenosine deaminase, RNA-specific isoform a							145.0	150.0	148.0					1																	154574268		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574268T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.850A>G	1.37:g.154574268T>C	ENSP00000357459:p.Thr284Ala					ADAR_uc001ffj.2_Missense_Mutation_p.T284A|ADAR_uc001ffi.2_Missense_Mutation_p.T284A|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR	p.T284A	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1050	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		284					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.850A>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	7.451	0.642628	0.14451	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11169	2.8;2.81;2.82	4.29	-1.16	0.09678	.	1.487770	0.03673	N	0.244249	T	0.01592	0.0051	N	0.20685	0.6	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.41963	-0.9479	10	0.12430	T	0.62	-1.6635	4.9648	0.14085	0.0:0.1689:0.2946:0.5365	.	284;284;284	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	A	327;284;279	ENSP00000292205:T327A;ENSP00000357459:T284A;ENSP00000431794:T279A	ENSP00000292205:T327A	T	-	1	0	ADAR	152840892	0.917000	0.31117	0.002000	0.10522	0.018000	0.09664	0.000000	0.12993	-0.298000	0.08921	0.402000	0.26972	ACA		PASS	0.498	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		45	259	45	259	---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155261636	155261636	+	Missense_Mutation	SNP	C	C	T	rs113403872		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:155261636C>T	ENST00000342741.4	-	10	1567	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	PKLR_ENST00000392414.3_Missense_Mutation_p.R479Q	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	510			R -> Q (in PKRD; the most common mutation in European population; dbSNP:rs113403872). {ECO:0000269|PubMed:8180378, ECO:0000269|PubMed:8483951, ECO:0000269|PubMed:9482576}.		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.R510Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GAAGACTCCTCGGCATAAGTG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20352	0.0		0.001	False		,,,				2504	0.0					uc001fkb.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5	GRCh37	CM941170	PKLR	M	rs113403872	c.(1528-1530)CGA>CAA		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	83.0	83.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1529,1436	4.8	1.0	1	dbSNP_132	83	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	PKLR	NM_000298.5,NM_181871.3	43,43	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	probably-damaging,probably-damaging	510/575,479/544	155261636	9,12997	2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155261636C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1529G>A	1.37:g.155261636C>T	ENSP00000339933:p.Arg510Gln					RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.R479Q	p.R510Q	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	1568	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		510		R -> Q (in PKRD; the most common mutation in European population).			O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1529G>A	CCDS1109.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.517723	0.96416	2.27E-4	9.3E-4	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99226	-5.59;-5.59	4.85	4.85	0.62838	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	M	0.92691	3.335	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.98380	1.0558	9	0.56958	D	0.05	-8.6778	15.8598	0.79012	0.0:1.0:0.0:0.0	.	510;501	P30613;B1AVT1	KPYR_HUMAN;.	Q	535;479;510;424	ENSP00000376214:R479Q;ENSP00000339933:R510Q	ENSP00000271946:R424Q	R	-	2	0	PKLR	153528260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.462000	0.80851	2.677000	0.91161	0.563000	0.77884	CGA		PASS	0.587	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		5	136	5	136	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155408743	155408743	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:155408743C>G	ENST00000368346.3	-	5	5842	c.5203G>C	c.(5203-5205)Gat>Cat	p.D1735H	ASH1L_ENST00000392403.3_Missense_Mutation_p.D1735H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1735	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.D1735H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCACAGCATCAATACTTTTC	0.517																																						uc009wqq.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(5203-5205)GAT>CAT		absent, small, or homeotic 1-like							91.0	77.0	82.0					1																	155408743		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408743C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5203G>C	1.37:g.155408743C>G	ENSP00000357330:p.Asp1735His					ASH1L_uc001fkt.2_Missense_Mutation_p.D1735H	p.D1735H	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	5683	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1735			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.5203G>C		.	.	.	.	.	.	.	.	.	.	C	19.01	3.742907	0.69418	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89552	-2.53;-2.53	5.47	5.47	0.80525	.	0.204675	0.42053	D	0.000769	D	0.83852	0.5344	N	0.14661	0.345	0.80722	D	1	P;P	0.40794	0.61;0.729	B;P	0.50617	0.443;0.646	D	0.84676	0.0714	10	0.40728	T	0.16	.	19.1031	0.93282	0.0:1.0:0.0:0.0	.	1735;1735	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	1735	ENSP00000357330:D1735H;ENSP00000376204:D1735H	ENSP00000357330:D1735H	D	-	1	0	ASH1L	153675367	0.998000	0.40836	0.984000	0.44739	0.846000	0.48090	4.794000	0.62482	2.847000	0.97988	0.655000	0.94253	GAT		PASS	0.517	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	107	7	107	---	---	---	---
NES	10763	broad.mit.edu	37	1	156641556	156641556	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:156641556C>G	ENST00000368223.3	-	4	2556	c.2424G>C	c.(2422-2424)aaG>aaC	p.K808N		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	808	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.K808N(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTTGAGTGACTTTAAGAACT	0.413																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2422-2424)AAG>AAC		nestin							92.0	85.0	88.0					1																	156641556		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641556C>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2424G>C	1.37:g.156641556C>G	ENSP00000357206:p.Lys808Asn						p.K808N	NM_006617	NP_006608	P48681	NEST_HUMAN			4	2557	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		808			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2424G>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344476	0.41498	.	.	ENSG00000132688	ENST00000368223	D	0.86030	-2.06	5.4	-1.27	0.09347	.	1.284240	0.05903	N	0.630369	T	0.55257	0.1909	L	0.36672	1.1	0.09310	N	1	B	0.33379	0.41	B	0.26614	0.071	T	0.51371	-0.8714	10	0.52906	T	0.07	.	1.0365	0.01549	0.2782:0.283:0.2707:0.1681	.	808	P48681	NEST_HUMAN	N	808	ENSP00000357206:K808N	ENSP00000357206:K808N	K	-	3	2	NES	154908180	0.000000	0.05858	0.003000	0.11579	0.358000	0.29455	-0.630000	0.05502	0.248000	0.21435	0.563000	0.77884	AAG		PASS	0.413	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		22	135	22	135	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156693248	156693248	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:156693248T>C	ENST00000313146.6	-	3	1737	c.955A>G	c.(955-957)Aag>Gag	p.K319E	ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_Missense_Mutation_p.K319E	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	319	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)	p.K319E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTCCGCTCTTCCCAACCTGA	0.532																																						uc001fps.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(955-957)AAG>GAG		interferon stimulated exonuclease gene							133.0	124.0	127.0					1																	156693248		2203	4300	6503	SO:0001583	missense	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156693248T>C	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.955A>G	1.37:g.156693248T>C	ENSP00000323424:p.Lys319Glu					ISG20L2_uc001fpt.1_Missense_Mutation_p.K319E	p.K319E	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN			3	1216	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		319			Exonuclease.		D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	c.955A>G	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355445	0.61293	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.29917	1.55;1.55	5.61	3.09	0.35607	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.825550	0.10862	N	0.626016	T	0.03651	0.0104	N	0.03891	-0.335	0.09310	N	1	B	0.16603	0.018	B	0.30029	0.11	T	0.45745	-0.9240	10	0.02654	T	1	-1.4699	8.0986	0.30844	0.1333:0.0:0.1391:0.7277	.	319	Q9H9L3	I20L2_HUMAN	E	319	ENSP00000323424:K319E;ENSP00000357202:K319E	ENSP00000323424:K319E	K	-	1	0	ISG20L2	154959872	0.005000	0.15991	0.086000	0.20670	0.957000	0.61999	1.134000	0.31442	1.022000	0.39626	0.533000	0.62120	AAG		PASS	0.532	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		26	201	26	201	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158615169	158615169	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:158615169G>C	ENST00000368147.4	-	29	4183	c.4003C>G	c.(4003-4005)Cgt>Ggt	p.R1335G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1335					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.R1335G(2)		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)					ATGTCAGCACGGTGCTCCTGT	0.488																																						uc001fst.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4003-4005)CGT>GGT		spectrin, alpha, erythrocytic 1							62.0	61.0	61.0					1																	158615169		1907	4141	6048	SO:0001583	missense	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.chr1:158615169G>C	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.4003C>G	1.37:g.158615169G>C	ENSP00000357129:p.Arg1335Gly						p.R1335G	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4202	-	all_hematologic(112;0.0378)		1335			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4003C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	7.550	0.662563	0.14645	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51071	0.72;0.72	5.06	0.976	0.19727	.	.	.	.	.	T	0.34337	0.0894	L	0.43757	1.38	0.21473	N	0.999676	P	0.45715	0.865	P	0.57425	0.82	T	0.13926	-1.0491	9	0.59425	D	0.04	.	5.1566	0.15038	0.3066:0.0:0.5608:0.1325	.	1335	P02549	SPTA1_HUMAN	G	1335	ENSP00000357130:R1335G;ENSP00000357129:R1335G	ENSP00000357129:R1335G	R	-	1	0	SPTA1	156881793	0.999000	0.42202	0.000000	0.03702	0.087000	0.18053	3.236000	0.51336	0.303000	0.22785	-0.142000	0.14014	CGT		PASS	0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		13	87	13	87	---	---	---	---
MAEL	84944	broad.mit.edu	37	1	166974348	166974348	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:166974348G>A	ENST00000367872.4	+	7	928	c.684G>A	c.(682-684)aaG>aaA	p.K228K	MAEL_ENST00000367870.2_Silent_p.K197K|MAEL_ENST00000491055.1_3'UTR|RNA5SP65_ENST00000363166.1_RNA	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	228					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.K228K(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGTGTTTGAAGCATATGGCAA	0.353																																						uc001gdy.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(682-684)AAG>AAA		maelstrom homolog							67.0	68.0	68.0					1																	166974348		2203	4300	6503	SO:0001819	synonymous_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166974348G>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.684G>A	1.37:g.166974348G>A						MAEL_uc001gdz.1_Silent_p.K197K|MAEL_uc009wvf.1_RNA	p.K228K	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			7	755	+			228					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	c.684G>A	CCDS1257.1																																																																																				PASS	0.353	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		9	65	9	65	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171509532	171509532	+	Missense_Mutation	SNP	G	G	T	rs149366991		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:171509532G>T	ENST00000338920.4	+	16	3158	c.2921G>T	c.(2920-2922)cGa>cTa	p.R974L	PRRC2C_ENST00000392078.3_Missense_Mutation_p.R976L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R974L|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R976L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	974					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R976L(2)									GGCTTTATACGATCTTCTGAA	0.403																																						uc010pmg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2920-2922)CGA>CTA		HBxAg transactivated protein 2							26.0	25.0	25.0					1																	171509532		2203	4299	6502	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509532G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2921G>T	1.37:g.171509532G>T	ENSP00000343629:p.Arg974Leu					BAT2L2_uc010pmh.1_5'UTR	p.R974L	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	3187	+			974					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2921G>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	8.791	0.930590	0.18131	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.98	5.98	0.97165	.	0.000000	0.42420	D	0.000715	T	0.04003	0.0112	L	0.29908	0.895	0.29795	N	0.832898	B	0.32876	0.388	B	0.28465	0.09	T	0.21177	-1.0253	10	0.56958	D	0.05	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	974	Q9Y520-4	.	L	976;975;974;976;974;731;733	ENSP00000375928:R976L;ENSP00000410219:R974L;ENSP00000356716:R976L;ENSP00000343629:R974L	ENSP00000343629:R974L	R	+	2	0	PRRC2C	169776156	1.000000	0.71417	0.464000	0.27143	0.795000	0.44927	5.460000	0.66691	2.835000	0.97688	0.650000	0.86243	CGA		PASS	0.403	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		5	41	5	41	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176659322	176659322	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:176659322C>A	ENST00000367662.3	+	5	3351	c.2187C>A	c.(2185-2187)gaC>gaA	p.D729E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D729E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	729	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D729E(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCACACCGACACCATGATCC	0.483																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2185-2187)GAC>GAA		pappalysin 2 isoform 1							124.0	118.0	120.0					1																	176659322		2074	4246	6320	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659322C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2187C>A	1.37:g.176659322C>A	ENSP00000356634:p.Asp729Glu					PAPPA2_uc001gky.1_Missense_Mutation_p.D729E|PAPPA2_uc009www.2_RNA	p.D729E	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			5	3351	+			729			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2187C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593757	0.28445	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.79033	-1.23;1.51	5.33	3.45	0.39498	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.046996	0.85682	D	0.000000	T	0.70928	0.3280	L	0.49256	1.55	0.28216	N	0.926718	B;B	0.22211	0.066;0.006	B;B	0.29176	0.099;0.002	T	0.66716	-0.5853	10	0.66056	D	0.02	-14.8458	7.6343	0.28257	0.0:0.686:0.0:0.314	.	729;729	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	E	729	ENSP00000356634:D729E;ENSP00000356633:D729E	ENSP00000356633:D729E	D	+	3	2	PAPPA2	174925945	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	1.324000	0.33712	1.235000	0.43724	0.563000	0.77884	GAC		PASS	0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			33	218	33	218	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177250107	177250107	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:177250107G>A	ENST00000361539.4	+	8	2107	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	599					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.E599K(1)									CAGCCACTCTGAGAGCTGGTT	0.557																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1795-1797)GAG>AAG		family with sequence similarity 5, member B							58.0	56.0	57.0					1																	177250107		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250107G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1795G>A	1.37:g.177250107G>A	ENSP00000354481:p.Glu599Lys					FAM5B_uc001glg.2_Missense_Mutation_p.E494K	p.E599K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2107	+			599					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1795G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399694	0.83120	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.21031	2.03	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.85130	0.997;0.978	T	0.50491	-0.8822	10	0.87932	D	0	-22.2207	18.4386	0.90656	0.0:0.0:1.0:0.0	.	494;599	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	K	352;599	ENSP00000354481:E599K	ENSP00000354481:E599K	E	+	1	0	FAM5B	175516730	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	9.720000	0.98763	2.443000	0.82685	0.313000	0.20887	GAG		PASS	0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		6	58	6	58	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181548209	181548209	+	Splice_Site	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:181548209C>G	ENST00000367573.2	+	5	618	c.618C>G	c.(616-618)agC>agG	p.S206R	CACNA1E_ENST00000367570.1_Splice_Site_p.S206R|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Splice_Site_p.S206R|CACNA1E_ENST00000357570.5_Splice_Site_p.S157R|CACNA1E_ENST00000358338.5_Splice_Site_p.S157R|CACNA1E_ENST00000526775.1_Splice_Site_p.S206R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	206					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S206R(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCTTCTAGGCCTGCAGATTG	0.478																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(616-618)AGC>AGG		calcium channel, voltage-dependent, R type,							217.0	209.0	212.0					1																	181548209		2053	4202	6255	SO:0001630	splice_region_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181548209C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.617-1C>G	1.37:g.181548209C>G						CACNA1E_uc009wxr.2_Missense_Mutation_p.S113R|CACNA1E_uc009wxs.2_Missense_Mutation_p.S113R	p.S206R	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			5	783	+			206			Cytoplasmic (Potential).|I.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.618C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121886	0.56613	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	4.88	2.58	0.30949	.	0.000000	0.85682	D	0.000000	D	0.98495	0.9498	M	0.84219	2.685	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	D	0.98278	1.0507	10	0.87932	D	0	.	6.7188	0.23318	0.0:0.6143:0.0:0.3857	.	206;206	Q15878-2;Q15878-3	.;.	R	206;206;206;157;157;206;206	ENSP00000432038:S206R;ENSP00000356542:S206R;ENSP00000434814:S206R;ENSP00000350183:S157R;ENSP00000351101:S157R;ENSP00000353222:S206R;ENSP00000356545:S206R	ENSP00000350183:S157R	S	+	3	2	CACNA1E	179814832	0.979000	0.34478	1.000000	0.80357	0.966000	0.64601	0.193000	0.17116	1.184000	0.42957	0.561000	0.74099	AGC		PASS	0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	Missense_Mutation	10	142	10	142	---	---	---	---
TROVE2	6738	broad.mit.edu	37	1	193038376	193038376	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:193038376G>T	ENST00000367446.3	+	2	402	c.192G>T	c.(190-192)ttG>ttT	p.L64F	TROVE2_ENST00000367441.1_Missense_Mutation_p.L64F|TROVE2_ENST00000400968.2_Missense_Mutation_p.L64F|TROVE2_ENST00000367444.3_Missense_Mutation_p.L64F|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367445.3_Missense_Mutation_p.L64F|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367443.1_Missense_Mutation_p.L64F	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	64	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.L64F(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TAATTAGATTGATTGAAGATG	0.398																																						uc001gss.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)TTG>TTT		TROVE domain family, member 2 isoform 2							64.0	59.0	61.0					1																	193038376		1881	4119	6000	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193038376G>T	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.192G>T	1.37:g.193038376G>T	ENSP00000356416:p.Leu64Phe					TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.L64F|TROVE2_uc001gsw.2_Missense_Mutation_p.L64F|TROVE2_uc009wyp.2_Missense_Mutation_p.L64F|TROVE2_uc009wyq.2_Missense_Mutation_p.L64F|TROVE2_uc001gsx.1_Missense_Mutation_p.L64F	p.L64F	NM_004600	NP_004591	P10155	RO60_HUMAN			2	367	+			64			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.192G>T	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525859	0.64860	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.6	5.6	0.85130	TROVE (2);	0.075418	0.53938	D	0.000050	T	0.39759	0.1090	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.89917	0.978;0.992;1.0;1.0	D;D;D;D	0.77557	0.941;0.941;0.99;0.99	T	0.11792	-1.0573	10	0.51188	T	0.08	-9.6748	10.9958	0.47575	0.0:0.1392:0.7166:0.1442	.	64;64;64;64	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	F	64;64;64;64;64;64;5	ENSP00000383752:L64F;ENSP00000356416:L64F;ENSP00000356413:L64F;ENSP00000356415:L64F;ENSP00000356414:L64F;ENSP00000356411:L64F;ENSP00000424612:L5F	ENSP00000356411:L64F	L	+	3	2	TROVE2	191304999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.829000	0.27449	2.648000	0.89879	0.557000	0.71058	TTG		PASS	0.398	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		16	88	16	88	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196712697	196712697	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:196712697G>T	ENST00000367429.4	+	20	3489	c.3249G>T	c.(3247-3249)atG>atT	p.M1083I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1083	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|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)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.M1083I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTATGAAATGTTTGGGGATG	0.388																																						uc001gtj.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(3247-3249)ATG>ATT		complement factor H isoform a precursor							242.0	235.0	238.0					1																	196712697		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196712697G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3249G>T	1.37:g.196712697G>T	ENSP00000356399:p.Met1083Ile						p.M1083I	NM_000186	NP_000177	P08603	CFAH_HUMAN			20	3489	+			1083			Sushi 18.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.3249G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	12.83	2.054130	0.36277	.	.	ENSG00000000971	ENST00000367429	T	0.63913	-0.07	4.96	-9.92	0.00455	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.38241	0.1033	L	0.28556	0.865	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.20174	-1.0283	9	0.41790	T	0.15	.	3.3786	0.07246	0.1089:0.2533:0.4557:0.1821	.	1083	P08603	CFAH_HUMAN	I	1083	ENSP00000356399:M1083I	ENSP00000356399:M1083I	M	+	3	0	CFH	194979320	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-2.628000	0.00873	-2.962000	0.00289	0.455000	0.32223	ATG		PASS	0.388	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		28	321	28	321	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196881977	196881977	+	Intron	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:196881977G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.A122S|CFHR4_ENST00000367418.2_Missense_Mutation_p.A122S|CFHR4_ENST00000367416.2_Missense_Mutation_p.A368S|CFHR4_ENST00000608469.1_Missense_Mutation_p.A51S			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.A122S(1)|p.A368S(1)		large_intestine(2)|ovary(1)|skin(3)	6						ACCAGGATATGCAACAGCAGA	0.294																																						uc001gto.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(364-366)GCA>TCA		complement factor H-related 4 precursor							91.0	96.0	94.0					1																	196881977		2203	4296	6499	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196881977G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-36608G>T	1.37:g.196881977G>T						CFHR4_uc009wyy.2_Missense_Mutation_p.A368S|CFHR4_uc001gtp.2_Missense_Mutation_p.A369S	p.A122S	NM_006684	NP_006675	Q92496	FHR4_HUMAN			3	433	+			122			Sushi 2.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.364G>T		.	.	.	.	.	.	.	.	.	.	G	5.070	0.198663	0.09652	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.64085	-0.08;-0.08;-0.08	2.11	-0.0256	0.13934	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.41236	0.1150	N	0.01424	-0.875	0.18873	N	0.999984	P;D;D	0.65815	0.555;0.995;0.975	P;D;P	0.72982	0.452;0.979;0.866	T	0.41538	-0.9503	9	0.06365	T	0.9	.	2.4943	0.04618	0.181:0.0:0.531:0.288	.	368;369;122	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	S	368;122;122;122	ENSP00000356386:A368S;ENSP00000356388:A122S;ENSP00000251424:A122S	ENSP00000251424:A122S	A	+	1	0	CFHR4	195148600	0.118000	0.22208	0.565000	0.28409	0.584000	0.36387	-0.447000	0.06828	-0.006000	0.14370	0.205000	0.17691	GCA		PASS	0.294	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		29	185	29	185	---	---	---	---
IKBKE	9641	broad.mit.edu	37	1	206651597	206651597	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:206651597A>T	ENST00000367120.3	+	9	1280	c.907A>T	c.(907-909)Agt>Tgt	p.S303C	IKBKE_ENST00000537984.1_Missense_Mutation_p.S218C	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.S303C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TGCGGAGACCAGTGACATCCT	0.612																																						uc001hdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(907-909)AGT>TGT		IKK-related kinase epsilon							186.0	151.0	163.0					1																	206651597		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206651597A>T	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.907A>T	1.37:g.206651597A>T	ENSP00000356087:p.Ser303Cys					IKBKE_uc009xbu.1_3'UTR|IKBKE_uc009xbv.1_Missense_Mutation_p.S303C|IKBKE_uc001hea.1_Missense_Mutation_p.S218C	p.S303C	NM_014002	NP_054721	Q14164	IKKE_HUMAN			9	1275	+	Breast(84;0.137)		303			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.907A>T	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	a	30	5.051185	0.93740	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.64991	-0.13;1.78	5.31	5.31	0.75309	Protein kinase, catalytic domain (1);	0.113445	0.64402	D	0.000003	T	0.70090	0.3184	L	0.39898	1.24	0.39543	D	0.968841	D;D	0.76494	0.999;0.999	P;P	0.62813	0.862;0.907	T	0.74551	-0.3628	10	0.66056	D	0.02	-2.3956	15.2665	0.73666	1.0:0.0:0.0:0.0	.	218;303	Q3B754;Q14164	.;IKKE_HUMAN	C	303;218	ENSP00000356087:S303C;ENSP00000444529:S218C	ENSP00000356087:S303C	S	+	1	0	IKBKE	204718220	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.285000	0.95894	2.019000	0.59389	0.454000	0.30748	AGT		PASS	0.612	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			28	176	28	176	---	---	---	---
SYT14	255928	broad.mit.edu	37	1	210329086	210329086	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:210329086C>A	ENST00000472886.1	+	7	1199	c.1185C>A	c.(1183-1185)agC>agA	p.S395R	SYT14_ENST00000534859.1_Missense_Mutation_p.S395R|SYT14_ENST00000367019.1_Missense_Mutation_p.S395R|SYT14_ENST00000422431.1_Missense_Mutation_p.S440R|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Missense_Mutation_p.S357R|SYT14_ENST00000399639.2_Missense_Mutation_p.S395R|SYT14_ENST00000367015.1_Missense_Mutation_p.S357R			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	395					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.S395R(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCCAAATGAGCGTGTCAGAAA	0.353																																						uc009xcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1183-1185)AGC>AGA		synaptotagmin XIV isoform 4							99.0	96.0	97.0					1																	210329086		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210329086C>A	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.1185C>A	1.37:g.210329086C>A	ENSP00000418901:p.Ser395Arg					SYT14_uc001hhs.3_Missense_Mutation_p.S440R|SYT14_uc001hht.3_Missense_Mutation_p.S395R|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.S440R|SYT14_uc010pso.1_Missense_Mutation_p.S357R	p.S395R	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	7	1257	+			395			Cytoplasmic (Potential).		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.1185C>A	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314231	0.40996	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.21361	3.12;2.96;2.01;3.24;3.0;3.24;3.24	4.63	2.75	0.32379	.	0.000000	0.85682	U	0.000000	T	0.44498	0.1296	M	0.77820	2.39	0.80722	D	1	D;P;D;D	0.89917	0.979;0.901;1.0;0.988	P;P;D;P	0.87578	0.686;0.686;0.998;0.834	T	0.36529	-0.9744	10	0.87932	D	0	-12.6975	10.5881	0.45294	0.0:0.8413:0.0:0.1587	.	423;395;395;440	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	R	440;395;395;357;395;395;357	ENSP00000389039:S440R;ENSP00000442891:S395R;ENSP00000445837:S395R;ENSP00000437423:S357R;ENSP00000355986:S395R;ENSP00000418901:S395R;ENSP00000355982:S357R	ENSP00000355982:S357R	S	+	3	2	SYT14	208395709	0.996000	0.38824	0.682000	0.30024	0.349000	0.29174	1.535000	0.36061	0.389000	0.25086	-0.373000	0.07131	AGC		PASS	0.353	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		21	93	21	93	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211093411	211093411	+	Splice_Site	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:211093411C>A	ENST00000271751.4	-	7	1060	c.1033G>T	c.(1033-1035)Ggc>Tgc	p.G345C	KCNH1_ENST00000367007.4_Splice_Site_p.G318C			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	345					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.G345C(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)		CTGCTGATGCCCTGGGAGAAG	0.527																																						uc001hib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1033-1035)GGC>TGC		potassium voltage-gated channel, subfamily H,							41.0	44.0	43.0					1																	211093411		2203	4300	6503	SO:0001630	splice_region_variant	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.chr1:211093411C>A	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.1033-1G>T	1.37:g.211093411C>A						KCNH1_uc001hic.2_Missense_Mutation_p.G318C	p.G345C	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1203	-			345			Extracellular (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1033G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140481	0.77775	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98717	-5.09;-4.44	5.48	4.57	0.56435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.89968	3.075	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.66351	0.943;0.943	D	0.99301	1.0901	10	0.87932	D	0	.	12.92	0.58226	0.0:0.9226:0.0:0.0774	.	318;345	Q14CL3;O95259	.;KCNH1_HUMAN	C	345;318	ENSP00000271751:G345C;ENSP00000355974:G318C	ENSP00000271751:G345C	G	-	1	0	KCNH1	209160034	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.538000	0.82048	1.320000	0.45209	0.655000	0.94253	GGC		PASS	0.527	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	Missense_Mutation	15	73	15	73	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215987192	215987192	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:215987192C>T	ENST00000307340.3	-	49	10011	c.9625G>A	c.(9625-9627)Gaa>Aaa	p.E3209K	USH2A_ENST00000366943.2_Missense_Mutation_p.E3209K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3209	Fibronectin type-III 18. {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.E3209K(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)		ATATACTTTTCTTCACAACAG	0.413										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.(9625-9627)GAA>AAA		usherin isoform B							117.0	106.0	110.0					1																	215987192		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.chr1:215987192C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9625G>A	1.37:g.215987192C>T	ENSP00000305941:p.Glu3209Lys	HNSCC(13;0.011)					p.E3209K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	49	10012	-			3209			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9625G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095611	0.56075	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12465	2.69;2.68	5.8	5.8	0.92144	Fibronectin, type III (2);	0.584130	0.13861	U	0.357625	T	0.17831	0.0428	L	0.60455	1.87	0.35691	D	0.814868	P	0.43094	0.799	B	0.35039	0.194	T	0.26430	-1.0103	10	0.38643	T	0.18	.	20.0544	0.97645	0.0:1.0:0.0:0.0	.	3209	O75445	USH2A_HUMAN	K	3209	ENSP00000305941:E3209K;ENSP00000355910:E3209K	ENSP00000305941:E3209K	E	-	1	0	USH2A	214053815	1.000000	0.71417	0.954000	0.39281	0.166000	0.22503	4.076000	0.57591	2.746000	0.94184	0.591000	0.81541	GAA		PASS	0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	145	5	145	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220184343	220184343	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:220184343G>A	ENST00000366923.3	-	13	1819	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	517	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.P517L(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TACATTCACTGGGATCACTTC	0.403																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1549-1551)CCA>CTA		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						229.0	223.0	225.0					1																	220184343		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220184343G>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1550C>T	1.37:g.220184343G>A	ENSP00000355890:p.Pro517Leu					EPRS_uc010puf.1_Missense_Mutation_p.P268L|EPRS_uc001hlz.1_Missense_Mutation_p.P524L|EPRS_uc009xdt.1_Missense_Mutation_p.P220L	p.P517L	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	13	1820	-			517			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.1550C>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485126	0.44147	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.05925	3.37	5.52	3.66	0.41972	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.208509	0.51477	N	0.000092	T	0.04679	0.0127	N	0.17723	0.515	0.80722	D	1	B;B;B;B	0.12630	0.001;0.004;0.006;0.001	B;B;B;B	0.13407	0.007;0.007;0.006;0.009	T	0.41378	-0.9512	10	0.18710	T	0.47	-1.9751	12.468	0.55771	0.1341:0.0:0.8659:0.0	.	541;524;524;517	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	L	517;524;541	ENSP00000355890:P517L	ENSP00000355890:P517L	P	-	2	0	EPRS	218250966	1.000000	0.71417	0.636000	0.29352	0.996000	0.88848	5.256000	0.65468	0.816000	0.34421	0.655000	0.94253	CCA		PASS	0.403	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		27	253	27	253	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222712020	222712020	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:222712020C>T	ENST00000343410.6	-	5	1605	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	516					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.G516D(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GATATACAGGCCATTGAGATT	0.408																																						uc001hnh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1546-1548)GGC>GAC		HHIP-like 2 precursor							115.0	99.0	104.0					1																	222712020		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222712020C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1547G>A	1.37:g.222712020C>T	ENSP00000342118:p.Gly516Asp						p.G516D	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	5	1605	-			516					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1547G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538982	0.85917	.	.	ENSG00000143512	ENST00000343410	T	0.23348	1.91	5.2	5.2	0.72013	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.054533	0.64402	D	0.000001	T	0.58779	0.2146	M	0.86343	2.81	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.67059	-0.5766	10	0.87932	D	0	-27.6034	18.328	0.90260	0.0:1.0:0.0:0.0	.	516	Q6UWX4	HIPL2_HUMAN	D	516	ENSP00000342118:G516D	ENSP00000342118:G516D	G	-	2	0	HHIPL2	220778643	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.551000	0.67274	2.391000	0.81399	0.591000	0.81541	GGC		PASS	0.408	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		8	69	8	69	---	---	---	---
CNIH3	149111	broad.mit.edu	37	1	224918248	224918248	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:224918248G>C	ENST00000272133.3	+	4	1165	c.283G>C	c.(283-285)Gtc>Ctc	p.V95L	RP11-3L21.2_ENST00000431691.1_RNA	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	95					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)	p.V95L(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GGGGCTGAATGTCCCTCTACT	0.517																																						uc001hos.1																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)GTC>CTC		cornichon homolog 3							132.0	105.0	115.0					1																	224918248		2196	4276	6472	SO:0001583	missense	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224918248G>C	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.283G>C	1.37:g.224918248G>C	ENSP00000272133:p.Val95Leu						p.V95L	NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	4	981	+	Breast(184;0.218)		95			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000272133.3	37	c.283G>C	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661696	0.47572	.	.	ENSG00000143786	ENST00000272133	T	0.37411	1.2	4.47	4.47	0.54385	.	0.187433	0.46442	D	0.000284	T	0.13586	0.0329	N	0.03016	-0.435	0.38643	D	0.951659	B	0.02656	0.0	B	0.04013	0.001	T	0.15263	-1.0443	10	0.02654	T	1	-9.6196	11.7356	0.51763	0.0861:0.0:0.9139:0.0	.	95	Q8TBE1	CNIH3_HUMAN	L	95	ENSP00000272133:V95L	ENSP00000272133:V95L	V	+	1	0	CNIH3	222984871	0.984000	0.35163	0.898000	0.35279	0.993000	0.82548	2.223000	0.42936	2.017000	0.59298	0.650000	0.86243	GTC		PASS	0.517	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495		3	5	3	5	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568794	229568794	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:229568794G>A	ENST00000366684.3	-	2	171	c.69C>T	c.(67-69)ttC>ttT	p.F23F	ACTA1_ENST00000366683.2_Silent_p.F23F	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	23					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.F23F(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CATCCCCGGCGAAGCCGGCTT	0.682																																						uc001htm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(67-69)TTC>TTT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						46.0	49.0	48.0					1																	229568794		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568794G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.69C>T	1.37:g.229568794G>A							p.F23F	NM_001100	NP_001091	P68133	ACTS_HUMAN			2	174	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	23					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.69C>T	CCDS1578.1																																																																																				PASS	0.682	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		30	123	30	123	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237656289	237656289	+	Missense_Mutation	SNP	C	C	A	rs17686573	byFrequency	TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:237656289C>A	ENST00000366574.2	+	19	2180	c.1863C>A	c.(1861-1863)caC>caA	p.H621Q	RYR2_ENST00000542537.1_Missense_Mutation_p.H605Q|RYR2_ENST00000360064.6_Missense_Mutation_p.H619Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	621	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H619Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGTTTGCCACGGGGTTGCAG	0.507																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1861-1863)CAC>CAA		cardiac muscle ryanodine receptor							134.0	148.0	144.0					1																	237656289		2017	4165	6182	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237656289C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1863C>A	1.37:g.237656289C>A	ENSP00000355533:p.His621Gln						p.H621Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		19	1983	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	621			Cytoplasmic (By similarity).|B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1863C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804053	0.50315	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95103	-3.61;-3.61;-3.61	6.06	-0.452	0.12205	Intracellular calcium-release channel (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000003	D	0.86117	0.5856	N	0.12182	0.205	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.74469	-0.3655	10	0.51188	T	0.08	.	10.4407	0.44464	0.0:0.341:0.0:0.659	.	621	Q92736	RYR2_HUMAN	Q	621;619;605	ENSP00000355533:H621Q;ENSP00000353174:H619Q;ENSP00000443798:H605Q	ENSP00000353174:H619Q	H	+	3	2	RYR2	235722912	0.994000	0.37717	0.997000	0.53966	0.503000	0.33858	0.276000	0.18716	-0.094000	0.12374	-0.295000	0.09555	CAC		PASS	0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	33	6	33	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237870313	237870314	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:237870313_237870314GG>TT	ENST00000366574.2	+	68	9962_9963	c.9645_9646GG>TT	c.(9643-9648)atGGaa>atTTaa	p.3215_3216ME>I*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.3199_3200ME>I*|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Nonsense_Mutation_p.3213_3214ME>I*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3215					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.M3213I(1)|p.E3214*(1)|p.M3213_E3214>I*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAACTCATGGAAGAAATCGT	0.426																																						uc001hyl.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9643-9645)ATG>ATT|c.(9646-9648)GAA>TAA		cardiac muscle ryanodine receptor																																				SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870313G>T|g.chr1:237870314G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	Exception_encountered	1.37:g.237870313_237870314delinsTT	ENSP00000355533:p.M3215_E3216delinsI*					RYR2_uc010pxz.1_Missense_Mutation_p.M170I|RYR2_uc010pxz.1_Nonsense_Mutation_p.E171*	p.M3215I|p.E3216*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9765|9766	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3215|3216					Q15411|Q546N8|Q5T3P2	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000366574.2	37	c.9645G>T|c.9646G>T	CCDS55691.1																																																																																				PASS	0.426	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		30	192|190	30	190	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947443	237947443	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:237947443G>A	ENST00000366574.2	+	90	12748	c.12431G>A	c.(12430-12432)cGc>cAc	p.R4144H	RYR2_ENST00000542537.1_Missense_Mutation_p.R4128H|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R4150H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4144					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4142H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCGCCAAACGCATCGAGAGG	0.498																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12430-12432)CGC>CAC		cardiac muscle ryanodine receptor							78.0	78.0	78.0					1																	237947443		1920	4143	6063	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947443G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12431G>A	1.37:g.237947443G>A	ENSP00000355533:p.Arg4144His					RYR2_uc010pya.1_Missense_Mutation_p.R559H	p.R4144H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12551	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4144					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12431G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033915	0.93575	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97688	-4.49;-4.49;-4.49	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	D	0.98469	0.9490	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.71184	0.891;0.972	D	0.99737	1.1014	10	0.87932	D	0	.	19.4843	0.95024	0.0:0.0:1.0:0.0	.	1118;4144	B4DGV4;Q92736	.;RYR2_HUMAN	H	4144;4150;4128;1118	ENSP00000355533:R4144H;ENSP00000353174:R4150H;ENSP00000443798:R4128H	ENSP00000353174:R4150H	R	+	2	0	RYR2	236014066	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.953000	0.87836	2.610000	0.88304	0.655000	0.94253	CGC		PASS	0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	127	4	127	---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240071750	240071750	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:240071750C>G	ENST00000255380.4	+	5	1778	c.999C>G	c.(997-999)agC>agG	p.S333R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	333					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.S333R(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCACAGCAGCAGTGACAGTT	0.567																																						uc001hyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(997-999)AGC>AGG		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						51.0	45.0	47.0					1																	240071750		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071750C>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.999C>G	1.37:g.240071750C>G	ENSP00000255380:p.Ser333Arg						p.S333R	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1778	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	333			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.999C>G	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774924	0.49786	.	.	ENSG00000133019	ENST00000255380	T	0.62788	0.0	5.97	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.090399	0.85682	D	0.000000	T	0.64249	0.2581	L	0.49455	1.56	0.80722	D	1	P	0.37176	0.586	P	0.48089	0.566	T	0.62124	-0.6920	10	0.45353	T	0.12	-29.009	9.9326	0.41532	0.0:0.794:0.0:0.206	.	333	P20309	ACM3_HUMAN	R	333	ENSP00000255380:S333R	ENSP00000255380:S333R	S	+	3	2	CHRM3	238138373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.755000	0.47540	0.865000	0.35603	0.655000	0.94253	AGC		PASS	0.567	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		6	55	6	55	---	---	---	---
KMO	8564	broad.mit.edu	37	1	241724047	241724047	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:241724047G>A	ENST00000366559.4	+	6	755	c.444G>A	c.(442-444)gtG>gtA	p.V148V	KMO_ENST00000366557.4_Silent_p.V148V|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Silent_p.V148V	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.V148V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TGATCACAGTGCTTGGGTAAC	0.428																																						uc009xgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(442-444)GTG>GTA		kynurenine 3-monooxygenase							86.0	84.0	85.0					1																	241724047		2203	4300	6503	SO:0001819	synonymous_variant	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241724047G>A	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.444G>A	1.37:g.241724047G>A						KMO_uc001hyy.2_Silent_p.V148V|KMO_uc009xgo.1_Silent_p.V148V	p.V148V	NM_003679	NP_003670	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		6	509	+	Ovarian(103;0.103)|all_lung(81;0.23)		148						Silent	SNP	ENST00000366559.4	37	c.444G>A	CCDS1618.1																																																																																				PASS	0.428	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		5	64	5	64	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247025290	247025290	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:247025290C>G	ENST00000391829.2	-	28	3829	c.3706G>C	c.(3706-3708)Gaa>Caa	p.E1236Q	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1245Q|AHCTF1_ENST00000366508.1_Missense_Mutation_p.E1271Q			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1236	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E1236Q(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGACATCTTCTTCCACAAAT	0.383																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(3706-3708)GAA>CAA		transcription factor ELYS							62.0	61.0	61.0					1																	247025290		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247025290C>G		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3706G>C	1.37:g.247025290C>G	ENSP00000375705:p.Glu1236Gln					AHCTF1_uc001ibv.1_Missense_Mutation_p.E1245Q|AHCTF1_uc009xgs.1_Missense_Mutation_p.E97Q|AHCTF1_uc001ibw.1_RNA	p.E1236Q	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		27	3713	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1236			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.3706G>C		.	.	.	.	.	.	.	.	.	.	C	17.78	3.473551	0.63737	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34472	1.36;1.36;1.36	5.86	5.86	0.93980	.	0.224013	0.36234	N	0.002715	T	0.58906	0.2155	M	0.64997	1.995	0.33043	D	0.531688	D;D;D	0.89917	1.0;0.98;0.966	D;P;P	0.79784	0.993;0.731;0.518	T	0.63941	-0.6523	10	0.42905	T	0.14	-27.1421	18.3791	0.90444	0.0:1.0:0.0:0.0	.	97;1271;1236	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	Q	1271;1245;1236	ENSP00000355464:E1271Q;ENSP00000355465:E1245Q;ENSP00000375705:E1236Q	ENSP00000355465:E1245Q	E	-	1	0	AHCTF1	245091913	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	5.655000	0.67981	2.781000	0.95711	0.650000	0.86243	GAA		PASS	0.383	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		5	71	5	71	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978248	247978248	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:247978248C>G	ENST00000357627.1	-	1	783	c.784G>C	c.(784-786)Gag>Cag	p.E262Q		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E262Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAAGGAGACTCTGAAGCTGGC	0.413																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(784-786)GAG>CAG		olfactory receptor, family 14, subfamily A,							74.0	75.0	75.0					1																	247978248		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978248C>G	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.784G>C	1.37:g.247978248C>G	ENSP00000350248:p.Glu262Gln						p.E262Q	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	784	-			262			Extracellular (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.784G>C	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360852	0.24598	.	.	ENSG00000196772	ENST00000357627	T	0.00145	8.67	3.69	-3.48	0.04739	GPCR, rhodopsin-like superfamily (1);	1.862560	0.03251	U	0.181932	T	0.00109	0.0003	N	0.16016	0.355	0.09310	N	1	B	0.31413	0.322	B	0.36335	0.222	T	0.12863	-1.0531	10	0.14252	T	0.57	.	5.5054	0.16850	0.1438:0.3046:0.0:0.5516	.	262	Q8NHC5	O14AG_HUMAN	Q	262	ENSP00000350248:E262Q	ENSP00000350248:E262Q	E	-	1	0	OR14A16	246044871	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.244000	0.02902	-0.654000	0.05394	-0.234000	0.12200	GAG		PASS	0.413	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		4	92	4	92	---	---	---	---
OR2W3	343171	broad.mit.edu	37	1	248058999	248058999	+	Silent	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:248058999G>T	ENST00000360358.3	+	1	111	c.111G>T	c.(109-111)ctG>ctT	p.L37L	OR2W3_ENST00000537741.1_Silent_p.L37L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L37L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGTACCTCCTGACCCTCGTAG	0.582																																						uc001idp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(109-111)CTG>CTT		olfactory receptor, family 2, subfamily W,							176.0	155.0	162.0					1																	248058999		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248058999G>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.111G>T	1.37:g.248058999G>T						OR2W3_uc010pzb.1_Silent_p.L37L	p.L37L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	380	+	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)		37			Helical; Name=1; (Potential).		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.111G>T	CCDS31099.1																																																																																				PASS	0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		31	189	31	189	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487405	248487405	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:248487405C>T	ENST00000317965.2	-	1	494	c.466G>A	c.(466-468)Gga>Aga	p.G156R		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G156R(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAATGATTCCATCTGTAGAG	0.478																																						uc010pzk.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(466-468)GGA>AGA		olfactory receptor, family 2, subfamily M,							249.0	242.0	244.0					1																	248487405		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487405C>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.466G>A	1.37:g.248487405C>T	ENSP00000324557:p.Gly156Arg						p.G156R	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	466	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		156			Helical; Name=4; (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.466G>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442496	0.25987	.	.	ENSG00000177186	ENST00000317965	T	0.38240	1.15	1.54	0.469	0.16741	GPCR, rhodopsin-like superfamily (1);	0.256178	0.20224	U	0.096626	T	0.60779	0.2295	M	0.92691	3.335	0.09310	N	1	P	0.46912	0.886	D	0.65573	0.936	T	0.52155	-0.8613	10	0.87932	D	0	.	5.6351	0.17532	0.1952:0.4282:0.3766:0.0	.	156	Q8NG81	OR2M7_HUMAN	R	156	ENSP00000324557:G156R	ENSP00000324557:G156R	G	-	1	0	OR2M7	246554028	0.000000	0.05858	0.016000	0.15963	0.036000	0.12997	-0.367000	0.07553	-0.034000	0.13713	0.184000	0.17185	GGA		PASS	0.478	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		32	508	32	508	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248569970	248569970	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr1:248569970C>A	ENST00000366474.1	+	1	675	c.675C>A	c.(673-675)aaC>aaA	p.N225K		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N225K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAGATTAACCACTTCTTCT	0.512																																						uc010pzm.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(673-675)AAC>AAA		olfactory receptor, family 2, subfamily T,							144.0	131.0	135.0					1																	248569970		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569970C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.675C>A	1.37:g.248569970C>A	ENSP00000355430:p.Asn225Lys						p.N225K	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	675	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		225			Extracellular (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.675C>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	15.68	2.905883	0.52333	.	.	ENSG00000175143	ENST00000366474	T	0.00115	8.71	4.75	0.61	0.17580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39834	U	0.001253	T	0.00271	0.0008	L	0.58428	1.81	0.09310	N	1	D	0.56746	0.977	P	0.62560	0.904	T	0.48725	-0.9010	10	0.72032	D	0.01	.	5.4531	0.16576	0.0:0.5441:0.1374:0.3185	.	225	O43869	OR2T1_HUMAN	K	225	ENSP00000355430:N225K	ENSP00000355430:N225K	N	+	3	2	OR2T1	246636593	0.004000	0.15560	0.213000	0.23690	0.856000	0.48823	-0.657000	0.05335	0.218000	0.20820	0.650000	0.86243	AAC		PASS	0.512	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			25	126	25	126	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1520679	1520679	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:1520679C>A	ENST00000345913.4	+	15	2634	c.2543C>A	c.(2542-2544)aCt>aAt	p.T848N	TPO_ENST00000329066.4_Missense_Mutation_p.T848N|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.T804N|TPO_ENST00000349624.3_Missense_Mutation_p.T675N|TPO_ENST00000382198.1_Missense_Mutation_p.T675N|TPO_ENST00000337415.3_Missense_Mutation_p.T848N|TPO_ENST00000382201.3_Missense_Mutation_p.T791N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	848					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.T848N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTCGGGTGACTTGGATCTCC	0.582																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2542-2544)ACT>AAT		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						71.0	73.0	72.0					2																	1520679		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1520679C>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2543C>A	2.37:g.1520679C>A	ENSP00000318820:p.Thr848Asn					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.T791N|TPO_uc002qwr.2_Missense_Mutation_p.T848N|TPO_uc002qwx.2_Missense_Mutation_p.T791N|TPO_uc010yio.1_Missense_Mutation_p.T675N|TPO_uc010yip.1_Missense_Mutation_p.T804N|TPO_uc002qwy.1_Missense_Mutation_p.T144N|TPO_uc002qwz.2_RNA	p.T848N	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	15	2634	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	848			Helical; (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2543C>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.649|9.649	1.141177|1.141177	0.21205|0.21205	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607;ENST00000425083	.|T;T;T;T;T;T;T;T;T;T	.|0.69926	.|-0.24;-0.26;-0.23;0.02;-0.26;-0.2;0.02;-0.28;0.54;-0.44	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.954352	.|0.08655	.|N	.|0.913282	T|T	0.49966|0.49966	0.1588|0.1588	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.23249	.|0.034;0.043;0.082;0.062	.|B;B;B;B	.|0.26770	.|0.053;0.073;0.036;0.022	T|T	0.34354|0.34354	-0.9832|-0.9832	5|10	.|0.49607	.|T	.|0.09	-37.247|-37.247	15.0163|15.0163	0.71588|0.71588	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|804;675;791;848	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	I|N	323|848;848;804;675;848;791;675;733;278;69	.|ENSP00000337263:T848N;ENSP00000318820:T848N;ENSP00000263886:T804N;ENSP00000332044:T675N;ENSP00000329869:T848N;ENSP00000371636:T791N;ENSP00000371633:T675N;ENSP00000405788:T733N;ENSP00000419461:T278N;ENSP00000389659:T69N	.|ENSP00000329869:T848N	L|T	+|+	1|2	0|0	TPO|TPO	1499686|1499686	0.211000|0.211000	0.23529|0.23529	0.024000|0.024000	0.17045|0.17045	0.002000|0.002000	0.02628|0.02628	3.137000|3.137000	0.50562|0.50562	2.612000|2.612000	0.88384|0.88384	0.650000|0.650000	0.86243|0.86243	CTT|ACT		PASS	0.582	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		13	72	13	72	---	---	---	---
MATN3	4148	broad.mit.edu	37	2	20201770	20201770	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:20201770G>C	ENST00000407540.3	-	4	1050	c.988C>G	c.(988-990)Cat>Gat	p.H330D	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.H288D	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	330	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.H330D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTCACAATGATAAGAGCCA	0.418																																						uc002rdl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(988-990)CAT>GAT		matrilin 3 precursor							125.0	120.0	121.0					2																	20201770		1947	4150	6097	SO:0001583	missense	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20201770G>C	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.988C>G	2.37:g.20201770G>C	ENSP00000383894:p.His330Asp					MATN3_uc010exu.1_Missense_Mutation_p.H288D	p.H330D	NM_002381	NP_002372	O15232	MATN3_HUMAN			4	1051	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		330			EGF-like 2.		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	c.988C>G	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678968	0.47886	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.96427	-4.01;-2.23	5.65	5.65	0.86999	Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.238358	0.31082	N	0.008298	D	0.94634	0.8270	L	0.37466	1.105	0.09310	N	1	B;D	0.54047	0.025;0.964	B;P	0.54174	0.066;0.744	D	0.87438	0.2393	10	0.13853	T	0.58	-24.2641	10.9958	0.47575	0.0:0.1383:0.7185:0.1432	.	288;330	B2CPU0;O15232	.;MATN3_HUMAN	D	330;288	ENSP00000383894:H330D;ENSP00000398753:H288D	ENSP00000383894:H330D	H	-	1	0	MATN3	20065251	0.000000	0.05858	0.893000	0.35052	0.940000	0.58332	0.119000	0.15626	2.681000	0.91329	0.650000	0.86243	CAT		PASS	0.418	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		19	46	19	46	---	---	---	---
APOB	338	broad.mit.edu	37	2	21228375	21228375	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:21228375C>T	ENST00000233242.1	-	26	11492	c.11365G>A	c.(11365-11367)Gta>Ata	p.V3789I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3789					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.V3789I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAATTTTACCTCGGGGAGT	0.398																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11365-11367)GTA>ATA		apolipoprotein B precursor	Atorvastatin(DB01076)						125.0	127.0	127.0					2																	21228375		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228375C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11365G>A	2.37:g.21228375C>T	ENSP00000233242:p.Val3789Ile						p.V3789I	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11493	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3789					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11365G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240555	0.22711	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00922	5.54	5.57	1.68	0.24146	.	0.607175	0.14636	N	0.307499	T	0.01156	0.0038	M	0.61703	1.905	0.80722	D	1	P	0.37276	0.589	B	0.32393	0.145	T	0.65676	-0.6110	10	0.33141	T	0.24	.	6.0648	0.19858	0.0:0.3205:0.3993:0.2802	.	3789	P04114	APOB_HUMAN	I	3789	ENSP00000233242:V3789I	ENSP00000233242:V3789I	V	-	1	0	APOB	21081880	0.000000	0.05858	0.904000	0.35570	0.297000	0.27493	-0.444000	0.06854	0.027000	0.15297	0.655000	0.94253	GTA		PASS	0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			56	260	56	260	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27157544	27157544	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:27157544G>A	ENST00000288699.6	+	8	1047	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V297M	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	297					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.V297M(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATGTCACGGTGCCTCCCCT	0.577																																						uc002rhu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(889-891)GTG>ATG		dihydropyrimidinase-like 5							274.0	243.0	253.0					2																	27157544		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27157544G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.889G>A	2.37:g.27157544G>A	ENSP00000288699:p.Val297Met					DPYSL5_uc002rhv.3_Missense_Mutation_p.V297M	p.V297M	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			8	1047	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		297					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.889G>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391308	0.83011	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.90133	-2.62;-2.62	5.62	5.62	0.85841	Amidohydrolase 1 (1);	0.056815	0.64402	D	0.000001	D	0.88347	0.6412	N	0.12182	0.205	0.42819	D	0.993984	P	0.37370	0.592	P	0.47891	0.56	D	0.89936	0.4069	10	0.87932	D	0	-23.1367	18.424	0.90602	0.0:0.0:1.0:0.0	.	297	Q9BPU6	DPYL5_HUMAN	M	297	ENSP00000288699:V297M;ENSP00000385549:V297M	ENSP00000288699:V297M	V	+	1	0	DPYSL5	27011048	1.000000	0.71417	0.982000	0.44146	0.873000	0.50193	6.518000	0.73764	2.662000	0.90505	0.591000	0.81541	GTG		PASS	0.577	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		62	352	62	352	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32823032	32823032	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:32823032G>C	ENST00000421745.2	+	69	13961	c.13827G>C	c.(13825-13827)atG>atC	p.M4609I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4609	Ubiquitin-conjugating.				apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.M4581I(1)|p.M4609I(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTGATATCATGAAGGTAAAAA	0.393																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(13825-13827)ATG>ATC		baculoviral IAP repeat-containing 6							71.0	61.0	65.0					2																	32823032		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32823032G>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13827G>C	2.37:g.32823032G>C	ENSP00000393596:p.Met4609Ile						p.M4609I	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			69	13961	+	Acute lymphoblastic leukemia(172;0.155)		4609			Ubiquitin-conjugating.		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13827G>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835811	0.91117	.	.	ENSG00000115760	ENST00000421745	T	0.36878	1.23	5.15	5.15	0.70609	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	L	0.39633	1.23	0.80722	D	1	P	0.44044	0.825	D	0.72338	0.977	T	0.55166	-0.8183	10	0.66056	D	0.02	.	18.9924	0.92798	0.0:0.0:1.0:0.0	.	4609	Q9NR09	BIRC6_HUMAN	I	4609	ENSP00000393596:M4609I	ENSP00000393596:M4609I	M	+	3	0	BIRC6	32676536	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.813000	0.99286	2.571000	0.86741	0.585000	0.79938	ATG		PASS	0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	34	3	34	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33246033	33246033	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:33246033T>C	ENST00000404816.2	+	3	976	c.623T>C	c.(622-624)gTg>gCg	p.V208A	LTBP1_ENST00000354476.3_Missense_Mutation_p.V208A			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	208	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.V208A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAACTCTGTGTGTGTAAACCA	0.532																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(622-624)GTG>GCG		latent transforming growth factor beta binding							186.0	189.0	188.0					2																	33246033		2203	4299	6502	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33246033T>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.623T>C	2.37:g.33246033T>C	ENSP00000386043:p.Val208Ala						p.V208A	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			3	623	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	208			EGF-like 1.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.623T>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606618	0.66558	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	D;D	0.91792	-2.91;-2.91	4.8	4.8	0.61643	.	.	.	.	.	D	0.91784	0.7401	N	0.13168	0.305	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.93468	0.6816	9	0.72032	D	0.01	.	14.6676	0.68921	0.0:0.0:0.0:1.0	.	208	Q14766-4	.	A	208	ENSP00000386043:V208A;ENSP00000346467:V208A	ENSP00000346467:V208A	V	+	2	0	LTBP1	33099537	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.031000	0.76491	1.913000	0.55393	0.519000	0.50382	GTG		PASS	0.532	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		91	447	91	447	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39250320	39250320	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:39250320G>C	ENST00000426016.1	-	11	1335	c.1249C>G	c.(1249-1251)Cta>Gta	p.L417V	SOS1_ENST00000395038.2_Missense_Mutation_p.L417V|SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.L417V|SOS1_ENST00000472480.1_5'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	417					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L417V(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTGATTGCTAGTTGTTTCCCC	0.358									Noonan syndrome																													uc002rrk.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(1249-1251)CTA>GTA		son of sevenless homolog 1							83.0	73.0	76.0					2																	39250320		2203	4299	6502	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250320G>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1249C>G	2.37:g.39250320G>C	ENSP00000387784:p.Leu417Val					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.L31V|SOS1_uc002rrl.2_Missense_Mutation_p.L149V	p.L417V	NM_005633	NP_005624	Q07889	SOS1_HUMAN			10	1290	-		all_hematologic(82;0.21)	417					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1249C>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268656	0.23136	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.77358	-0.95;-0.95;-1.09	5.52	5.52	0.82312	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	N	0.20685	0.6	0.80722	D	1	B;B	0.14805	0.0;0.011	B;B	0.16289	0.007;0.015	T	0.61033	-0.7144	10	0.06625	T	0.88	.	19.7999	0.96502	0.0:0.0:1.0:0.0	.	149;417	F5GX06;Q07889	.;SOS1_HUMAN	V	417;417;149;417;417	ENSP00000387784:L417V;ENSP00000384675:L417V;ENSP00000378479:L417V	ENSP00000263879:L417V	L	-	1	2	SOS1	39103824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.387000	0.66243	2.753000	0.94483	0.557000	0.71058	CTA		PASS	0.358	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		36	157	36	157	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656111	40656111	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:40656111G>T	ENST00000403092.1	-	2	1343	c.1310C>A	c.(1309-1311)aCt>aAt	p.T437N	SLC8A1_ENST00000405269.1_Missense_Mutation_p.T437N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T437N|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T437N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T437N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T437N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T437N|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T437N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T437N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T437N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	437	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.T437N(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CACAGTGTTAGTCAAATCACC	0.443																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1309-1311)ACT>AAT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						96.0	84.0	89.0					2																	40656111		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656111G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1310C>A	2.37:g.40656111G>T	ENSP00000384763:p.Thr437Asn					SLC8A1_uc002rry.2_Missense_Mutation_p.T437N|SLC8A1_uc002rrz.2_Missense_Mutation_p.T437N|SLC8A1_uc002rsa.2_Missense_Mutation_p.T437N|SLC8A1_uc002rsd.3_Missense_Mutation_p.T437N|SLC8A1_uc002rsb.1_Missense_Mutation_p.T437N|SLC8A1_uc010fan.1_Missense_Mutation_p.T437N|SLC8A1_uc002rsc.1_Missense_Mutation_p.T437N	p.T437N	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1334	-			437			Calx-beta 1.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1310C>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	0.951	-0.706512	0.03230	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	6.17	3.24	0.37175	Na-Ca exchanger/integrin-beta4 (2);	0.340242	0.38778	N	0.001561	T	0.18002	0.0432	N	0.11845	0.185	0.43852	D	0.996445	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.12837	0.001;0.008;0.001;0.002;0.003	T	0.03576	-1.1023	10	0.15499	T	0.54	.	15.9826	0.80125	0.0:0.377:0.623:0.0	.	437;437;437;437;437	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	N	437	ENSP00000383886:T437N;ENSP00000440727:T437N;ENSP00000384763:T437N;ENSP00000385678:T437N;ENSP00000385188:T437N;ENSP00000385535:T437N;ENSP00000332931:T437N;ENSP00000384908:T437N;ENSP00000385811:T437N;ENSP00000443515:T437N	ENSP00000332931:T437N	T	-	2	0	SLC8A1	40509615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.220000	0.32491	0.880000	0.35969	0.655000	0.94253	ACT		PASS	0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		25	132	25	132	---	---	---	---
DYNC2LI1	51626	broad.mit.edu	37	2	44021646	44021647	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:44021646_44021647GG>TC	ENST00000260605.8	+	6	471_472	c.371_372GG>TC	c.(370-372)tGG>tTC	p.W124F	DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.W124F|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.W124F	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.W124C(1)|p.W124F(1)|p.W124L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AATGATCTCTGGCCCACCATGG	0.351																																						uc002rtk.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(370-372)TGG>TTG|c.(370-372)TGG>TGC		dynein 2 light intermediate chain isoform 1																																				SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44021646G>T|g.chr2:44021647G>C		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	Exception_encountered	2.37:g.44021646_44021647delinsTC	ENSP00000260605:p.Trp124Phe					DYNC2LI1_uc002rth.2_Missense_Mutation_p.W124L|DYNC2LI1_uc002rti.2_3'UTR|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.W124L|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.W124L|DYNC2LI1_uc010ynz.1_5'UTR|DYNC2LI1_uc002rth.2_Missense_Mutation_p.W124C|DYNC2LI1_uc002rti.2_3'UTR|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.W124C|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.W124C|DYNC2LI1_uc010ynz.1_5'UTR	p.W124L|p.W124C	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			6	467|468	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	124					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.371G>T|c.372G>C	CCDS1813.1																																																																																				PASS	0.351	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		7	102|100	7	100	---	---	---	---
SIX2	10736	broad.mit.edu	37	2	45235921	45235921	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:45235921C>A	ENST00000303077.6	-	1	648	c.329G>T	c.(328-330)cGc>cTc	p.R110L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	110					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R110L(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCGGCGCACGCGGTATTTGCC	0.657																																						uc002ruo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(328-330)CGC>CTC		SIX homeobox 2							41.0	45.0	44.0					2																	45235921		2203	4299	6502	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45235921C>A	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.329G>T	2.37:g.45235921C>A	ENSP00000304502:p.Arg110Leu					SIX2_uc002rup.2_Missense_Mutation_p.R110L	p.R110L	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			1	622	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	110					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.329G>T	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185137	0.94885	.	.	ENSG00000170577	ENST00000303077	D	0.94417	-3.42	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.99858	1.1080	10	0.87932	D	0	-30.3536	16.9715	0.86301	0.0:1.0:0.0:0.0	.	110;110	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	L	110	ENSP00000304502:R110L	ENSP00000304502:R110L	R	-	2	0	SIX2	45089425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.081000	0.62600	0.462000	0.41574	CGC		PASS	0.657	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			17	105	17	105	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50724617	50724617	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:50724617G>A	ENST00000406316.2	-	14	4209	c.2733C>T	c.(2731-2733)acC>acT	p.T911T	NRXN1_ENST00000405472.3_Silent_p.T903T|NRXN1_ENST00000401669.2_Silent_p.T911T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.T911T|NRXN1_ENST00000404971.1_Silent_p.T951T|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Silent_p.T903T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	911	Laminin G-like 5. {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.T911T(1)|p.T952T(1)|p.T951T(1)		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)			AGCTCGATTTGGTCTTGAAGG	0.398																																						uc010fbq.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(2851-2853)ACC>ACT		neurexin 1 isoform alpha2 precursor							132.0	122.0	125.0					2																	50724617		1968	4179	6147	SO:0001819	synonymous_variant	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.chr2:50724617G>A	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.2733C>T	2.37:g.50724617G>A						NRXN1_uc002rxb.3_Silent_p.T583T|NRXN1_uc002rxe.3_Silent_p.T911T|NRXN1_uc002rxc.1_RNA	p.T951T	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4330	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2853C>T	CCDS54360.1																																																																																				PASS	0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			11	61	11	61	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54147397	54147397	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:54147397C>G	ENST00000404125.1	-	19	2408	c.2353G>C	c.(2353-2355)Gac>Cac	p.D785H	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	785					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.D785H(1)|p.D671H(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAAAGGAGTCCAAAAGATAA	0.428																																						uc002rxp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(2353-2355)GAC>CAC		proteasome (prosome, macropain) activator							141.0	155.0	150.0					2																	54147397		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54147397C>G	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2353G>C	2.37:g.54147397C>G	ENSP00000384211:p.Asp785His					PSME4_uc010yop.1_Missense_Mutation_p.D671H|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.D160H|PSME4_uc010fbv.1_Intron	p.D785H	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		19	2409	-			785					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2353G>C	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407499	0.42715	.	.	ENSG00000068878	ENST00000404125	T	0.25250	1.81	5.66	4.77	0.60923	.	0.093926	0.64402	D	0.000001	T	0.24967	0.0606	L	0.49640	1.575	0.80722	D	1	B;B	0.31077	0.307;0.081	B;B	0.23574	0.047;0.012	T	0.02081	-1.1217	10	0.32370	T	0.25	.	16.8283	0.85937	0.0:0.8716:0.1284:0.0	.	160;785	Q14997-2;Q14997	.;PSME4_HUMAN	H	785	ENSP00000384211:D785H	ENSP00000384211:D785H	D	-	1	0	PSME4	54000901	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.049000	0.71053	1.361000	0.45981	0.650000	0.86243	GAC		PASS	0.428	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		6	325	6	325	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55562301	55562301	+	Splice_Site	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:55562301C>G	ENST00000436346.1	-	15	2498		c.e15-1		AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Splice_Site|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Splice_Site|CCDC88A_ENST00000263630.8_Splice_Site	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A						activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.?(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATCTTAATCTAATTTGAAA	0.348																																						uc002ryv.2																			2	Unknown(2)		lung(2)	ovary(2)|skin(2)	4						c.e15-1		coiled-coil domain containing 88A isoform 1							29.0	30.0	30.0					2																	55562301		2136	4284	6420	SO:0001630	splice_region_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55562301C>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1657-1G>C	2.37:g.55562301C>G						CCDC88A_uc010yoz.1_Splice_Site_p.I553_splice|CCDC88A_uc010ypa.1_Splice_Site_p.I553_splice|CCDC88A_uc010ypb.1_Intron|CCDC88A_uc002ryu.2_Splice_Site|CCDC88A_uc002ryw.2_Splice_Site	p.I553_splice	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			15	2499	-								A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Splice_Site	SNP	ENST00000436346.1	37	c.1657_splice		.	.	.	.	.	.	.	.	.	.	C	16.51	3.142975	0.57044	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6882	0.91573	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC88A	55415805	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.027000	0.76463	2.400000	0.81607	0.561000	0.74099	.		PASS	0.348	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	Intron	10	43	10	43	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575411	61575411	+	Missense_Mutation	SNP	C	C	T	rs566233715		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:61575411C>T	ENST00000398571.2	-	15	1955	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	627					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D627N(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCATGATCATCGTCTTCATCT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20140	0.0		0.0	False		,,,				2504	0.001					uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(1879-1881)GAT>AAT		ubiquitin specific protease 34							77.0	75.0	76.0					2																	61575411		2020	4185	6205	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575411C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1879G>A	2.37:g.61575411C>T	ENSP00000381577:p.Asp627Asn						p.D627N	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	1901	-			627					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1879G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989387	0.53934	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.64260	-0.09	6.07	6.07	0.98685	.	0.320519	0.36034	N	0.002827	T	0.45438	0.1342	N	0.14661	0.345	0.54753	D	0.999989	P	0.35551	0.509	B	0.23419	0.046	T	0.40496	-0.9560	10	0.33141	T	0.24	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	627	Q70CQ2	UBP34_HUMAN	N	475;475;627	ENSP00000381577:D627N	ENSP00000263989:D475N	D	-	1	0	USP34	61428915	1.000000	0.71417	0.985000	0.45067	0.052000	0.14988	7.346000	0.79347	2.890000	0.99128	0.650000	0.86243	GAT		PASS	0.488	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			15	91	15	91	---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69049822	69049822	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:69049822C>T	ENST00000295381.3	+	10	1967	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A	ARHGAP25_ENST00000409030.3_Silent_p.A509A|ARHGAP25_ENST00000409220.1_Silent_p.A510A|ARHGAP25_ENST00000479844.1_Silent_p.A210A|ARHGAP25_ENST00000467265.1_Silent_p.A477A|ARHGAP25_ENST00000409202.3_Silent_p.A517A	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	516					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A510A(1)|p.A517A(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGGAGGAAGCCAGTGCACTCT	0.537																																						uc002seu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)	4						c.(1546-1548)GCC>GCT		Rho GTPase activating protein 25 isoform a							92.0	92.0	92.0					2																	69049822		2203	4300	6503	SO:0001819	synonymous_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69049822C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1548C>T	2.37:g.69049822C>T						ARHGAP25_uc010fdg.2_Silent_p.A517A|ARHGAP25_uc010yql.1_Silent_p.A477A|ARHGAP25_uc002sew.2_Silent_p.A509A|ARHGAP25_uc002sex.2_Silent_p.A510A|ARHGAP25_uc002sey.2_Silent_p.A243A	p.A516A	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			10	1912	+			516					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.1548C>T		.	.	.	.	.	.	.	.	.	.	C	0.120	-1.126227	0.01770	.	.	ENSG00000163219	ENST00000497259	.	.	.	5.16	-10.3	0.00346	.	.	.	.	.	T	0.23094	0.0558	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15093	-1.0449	4	.	.	.	.	7.3293	0.26573	0.3619:0.4752:0.0936:0.0693	.	.	.	.	L	376	.	.	P	+	2	0	ARHGAP25	68903326	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.756000	0.00789	-2.452000	0.00542	-1.121000	0.02013	CCA		PASS	0.537	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		17	146	17	146	---	---	---	---
STAMBP	10617	broad.mit.edu	37	2	74074661	74074661	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:74074661G>C	ENST00000394070.2	+	5	1026	c.523G>C	c.(523-525)Gaa>Caa	p.E175Q	STAMBP_ENST00000339566.3_Missense_Mutation_p.E175Q|STAMBP_ENST00000394073.1_Missense_Mutation_p.E175Q|STAMBP_ENST00000409707.1_Missense_Mutation_p.E175Q|STAMBP_ENST00000536064.1_Missense_Mutation_p.E175Q	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	175	Glu-rich.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.E175Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CCAGGAGCTAGAAAAAGAGCG	0.507																																						uc002sjs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(523-525)GAA>CAA		STAM binding protein							95.0	87.0	90.0					2																	74074661		2203	4300	6503	SO:0001583	missense	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74074661G>C	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.523G>C	2.37:g.74074661G>C	ENSP00000377633:p.Glu175Gln					STAMBP_uc002sjt.2_Missense_Mutation_p.E175Q|STAMBP_uc002sju.2_Missense_Mutation_p.E175Q|STAMBP_uc002sjv.2_Missense_Mutation_p.E175Q	p.E175Q	NM_201647	NP_964010	O95630	STABP_HUMAN			5	573	+			175			Glu-rich.		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	c.523G>C	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154288	0.78114	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000432295;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.50001	1.83;1.83;1.83;1.83;1.83;0.76	4.88	4.88	0.63580	.	0.114476	0.64402	D	0.000017	T	0.52386	0.1731	L	0.28192	0.835	0.80722	D	1	D	0.65815	0.995	D	0.64410	0.925	T	0.35822	-0.9773	10	0.15952	T	0.53	-25.5638	17.3431	0.87303	0.0:0.0:1.0:0.0	.	175	O95630	STABP_HUMAN	Q	175	ENSP00000344742:E175Q;ENSP00000386548:E175Q;ENSP00000413874:E175Q;ENSP00000377636:E175Q;ENSP00000377633:E175Q;ENSP00000443502:E175Q	ENSP00000344742:E175Q	E	+	1	0	STAMBP	73928169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.947000	0.93000	2.711000	0.92665	0.650000	0.86243	GAA		PASS	0.507	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		9	66	9	66	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480125	74480125	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:74480125T>C	ENST00000377634.4	-	15	1643	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	SLC4A5_ENST00000346834.4_Missense_Mutation_p.K415R|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.K351R|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.K415R|SLC4A5_ENST00000377632.1_Missense_Mutation_p.K415R|SLC4A5_ENST00000394019.2_Missense_Mutation_p.K415R|SLC4A5_ENST00000358683.4_Missense_Mutation_p.K351R|SLC4A5_ENST00000357822.5_Missense_Mutation_p.K415R					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.K415R(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGCACCTTCTTGGGGGGCTC	0.468																																						uc002sko.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(1243-1245)AAG>AGG		sodium bicarbonate transporter 4 isoform a							67.0	65.0	66.0					2																	74480125		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74480125T>C	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1244A>G	2.37:g.74480125T>C	ENSP00000366861:p.Lys415Arg					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.K415R|SLC4A5_uc010ffc.1_Missense_Mutation_p.K415R|SLC4A5_uc002skp.1_Missense_Mutation_p.K351R|SLC4A5_uc002sks.1_Missense_Mutation_p.K415R	p.K415R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			10	1246	-			415			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.1244A>G	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493575	0.84962	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.4	5.4	0.78164	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	M	0.68952	2.095	0.47862	D	0.999537	P;D;D;D;D	0.89917	0.507;0.997;0.981;0.991;1.0	P;D;P;D;D	0.74348	0.461;0.934;0.908;0.909;0.983	D	0.88249	0.2915	10	0.56958	D	0.05	.	13.4149	0.60963	0.0:0.0:0.0:1.0	.	415;415;351;415;415	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	R	415;415;415;351;415;351;415;415;415;415	ENSP00000377587:K415R;ENSP00000251768:K415R;ENSP00000352461:K351R;ENSP00000395804:K415R;ENSP00000351513:K351R;ENSP00000350475:K415R;ENSP00000366859:K415R;ENSP00000366861:K415R;ENSP00000405678:K415R	ENSP00000251768:K415R	K	-	2	0	SLC4A5	74333633	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.868000	0.87116	2.270000	0.75569	0.459000	0.35465	AAG		PASS	0.468	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			27	119	27	119	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530489	80530489	+	Silent	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:80530489G>T	ENST00000295057.3	-	2	1112	c.456C>A	c.(454-456)ctC>ctA	p.L152L	LRRTM1_ENST00000409148.1_Silent_p.L152L|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	152					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L152L(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGTCGGGCGCGAGCGCCTGCA	0.642										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(454-456)CTC>CTA		leucine rich repeat transmembrane neuronal 1							95.0	103.0	100.0					2																	80530489		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530489G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.456C>A	2.37:g.80530489G>T		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.L152L	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	726	-			152			LRR 3.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.456C>A	CCDS1966.1																																																																																				PASS	0.642	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		21	82	21	82	---	---	---	---
INPP4A	3631	broad.mit.edu	37	2	99149956	99149956	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:99149956G>C	ENST00000523221.1	+	3	268	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	INPP4A_ENST00000074304.5_Missense_Mutation_p.E90Q|INPP4A_ENST00000545415.1_Missense_Mutation_p.E90Q|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Missense_Mutation_p.E90Q|INPP4A_ENST00000409851.3_Missense_Mutation_p.E90Q|INPP4A_ENST00000409540.3_Missense_Mutation_p.E90Q			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	90	C2.				inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.E90Q(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGATCATTGAGGTGGGTGC	0.517																																						uc002syy.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(268-270)GAG>CAG		inositol polyphosphate-4-phosphatase, type 1							103.0	103.0	103.0					2																	99149956		2103	4228	6331	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99149956G>C	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.268G>C	2.37:g.99149956G>C	ENSP00000427722:p.Glu90Gln					INPP4A_uc010yvj.1_Missense_Mutation_p.E90Q|INPP4A_uc010yvk.1_Missense_Mutation_p.E90Q|INPP4A_uc002syx.2_Missense_Mutation_p.E90Q|INPP4A_uc010fik.2_Intron	p.E90Q	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			5	661	+			90			C2.		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.268G>C	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254911	0.95336	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	5.38	5.38	0.77491	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	P;D;D;D	0.87578	0.81;0.998;0.998;0.966	T	0.75230	-0.3391	10	0.66056	D	0.02	-27.793	18.2938	0.90138	0.0:0.0:1.0:0.0	.	90;90;90;90	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	Q	90	ENSP00000386704:E90Q;ENSP00000386777:E90Q;ENSP00000074304:E90Q;ENSP00000442149:E90Q;ENSP00000387294:E90Q;ENSP00000427722:E90Q	ENSP00000074304:E90Q	E	+	1	0	INPP4A	98516388	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	9.657000	0.98554	2.806000	0.96561	0.655000	0.94253	GAG		PASS	0.517	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		17	71	17	71	---	---	---	---
SOWAHC	65124	broad.mit.edu	37	2	110373630	110373630	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:110373630A>G	ENST00000356454.3	+	1	1720	c.1564A>G	c.(1564-1566)Aat>Gat	p.N522D	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	522								p.N522D(1)									ACCAAAGTCCAATGTATTTGG	0.473																																						uc002tfb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1564-1566)AAT>GAT		ankyrin repeat domain 57							22.0	23.0	22.0					2																	110373630		2202	4299	6501	SO:0001583	missense	65124							g.chr2:110373630A>G	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1564A>G	2.37:g.110373630A>G	ENSP00000365830:p.Asn522Asp					SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	p.N522D	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN			1	1720	+			522					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1564A>G	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425420	0.83667	.	.	ENSG00000198142	ENST00000356454	T	0.33216	1.42	4.84	4.84	0.62591	.	0.064498	0.56097	D	0.000025	T	0.32971	0.0847	L	0.32530	0.975	0.33578	D	0.599449	D	0.56521	0.976	P	0.50109	0.631	T	0.50701	-0.8797	10	0.66056	D	0.02	-15.1824	13.7551	0.62933	1.0:0.0:0.0:0.0	.	522	Q53LP3	ANR57_HUMAN	D	522	ENSP00000365830:N522D	ENSP00000365830:N522D	N	+	1	0	ANKRD57	109730919	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.538000	0.73852	2.030000	0.59900	0.459000	0.35465	AAT		PASS	0.473	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		11	33	11	33	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125555884	125555884	+	Silent	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:125555884G>T	ENST00000431078.1	+	19	3565	c.3201G>T	c.(3199-3201)ctG>ctT	p.L1067L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1067	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L1067L(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)		TGGTTGTTCTGCTCTGCAAGA	0.498																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(3199-3201)CTG>CTT		contactin associated protein-like 5 precursor							100.0	98.0	99.0					2																	125555884		1981	4171	6152	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125555884G>T	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	ENST00000431078.1:c.3201G>T	2.37:g.125555884G>T						CNTNAP5_uc010flu.2_Silent_p.L1068L	p.L1067L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	19	3565	+			1067			Extracellular (Potential).|Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3201G>T	CCDS46401.1																																																																																				PASS	0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			7	76	7	76	---	---	---	---
PLEKHB2	55041	broad.mit.edu	37	2	131897811	131897811	+	Silent	SNP	G	G	T	rs538718700		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:131897811G>T	ENST00000403716.1	+	7	1055	c.495G>T	c.(493-495)ggG>ggT	p.G165G	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409612.1_Silent_p.G165G|PLEKHB2_ENST00000234115.6_Silent_p.G164G|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.G121V|PLEKHB2_ENST00000538982.1_Silent_p.G117G|PLEKHB2_ENST00000409158.1_Silent_p.G173G|PLEKHB2_ENST00000409279.1_Silent_p.G165G|PLEKHB2_ENST00000438882.2_Intron	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	165						endosome (GO:0005768)|membrane (GO:0016020)		p.G164G(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CTGCGAATGGGCAGGCGTATG	0.527																																						uc002tsg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(493-495)GGG>GGT		pleckstrin homology domain containing, family B							58.0	53.0	55.0					2																	131897811		2203	4300	6503	SO:0001819	synonymous_variant	55041					membrane	protein binding	g.chr2:131897811G>T		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.495G>T	2.37:g.131897811G>T						PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsj.3_Silent_p.G164G|PLEKHB2_uc002tsf.3_Silent_p.G173G|PLEKHB2_uc010zao.1_Silent_p.G115G|PLEKHB2_uc010zap.1_Intron|PLEKHB2_uc010zaq.1_Missense_Mutation_p.G121V|PLEKHB2_uc002tsi.3_Silent_p.G206G	p.G165G	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0828)	7	1055	+			165					B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Silent	SNP	ENST00000403716.1	37	c.495G>T	CCDS46413.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563188	0.27915	.	.	ENSG00000115762	ENST00000439822	.	.	.	4.81	-5.91	0.02269	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.80722	D	1	P	0.37423	0.594	B	0.38562	0.276	T	0.38134	-0.9675	7	0.51188	T	0.08	.	6.986	0.24729	0.5135:0.2197:0.2667:0.0	.	121	B4DZ66	.	V	121	.	ENSP00000389629:G121V	G	+	2	0	PLEKHB2	131614281	0.804000	0.28969	0.227000	0.23927	0.414000	0.31173	-0.217000	0.09253	-1.206000	0.02641	-0.131000	0.14894	GGC		PASS	0.527	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		4	41	4	41	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141083359	141083359	+	Silent	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:141083359A>G	ENST00000389484.3	-	80	13283	c.12312T>C	c.(12310-12312)aaT>aaC	p.N4104N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4104					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.N4104N(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)		AGACTACTGAATTAGAGCCAT	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12310-12312)AAT>AAC		low density lipoprotein-related protein 1B							112.0	101.0	105.0					2																	141083359		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141083359A>G	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.12312T>C	2.37:g.141083359A>G		TSP Lung(27;0.18)					p.N4104N	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)	80	13284	-		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)	4104			Extracellular (Potential).|LDL-receptor class B 36.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12312T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.555071	0.00918	.	.	ENSG00000168702	ENST00000437977	.	.	.	5.13	1.49	0.22878	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	.	11.0259	0.47744	0.733:0.0:0.267:0.0	.	.	.	.	T	336	.	.	I	-	2	0	LRP1B	140799829	1.000000	0.71417	0.001000	0.08648	0.015000	0.08874	1.078000	0.30754	0.001000	0.14605	-1.431000	0.01090	ATT		PASS	0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	75	6	75	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141201953	141201953	+	Silent	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:141201953A>G	ENST00000389484.3	-	65	11211	c.10240T>C	c.(10240-10242)Tta>Cta	p.L3414L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3414	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L3414L(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)		TTACATCTTAAGTTTACTGGG	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10240-10242)TTA>CTA		low density lipoprotein-related protein 1B							204.0	190.0	195.0					2																	141201953		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141201953A>G	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.10240T>C	2.37:g.141201953A>G		TSP Lung(27;0.18)					p.L3414L	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)	65	11212	-		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)	3414			Extracellular (Potential).|LDL-receptor class A 23.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.10240T>C	CCDS2182.1																																																																																				PASS	0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		32	207	32	207	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163292047	163292047	+	Missense_Mutation	SNP	T	T	A	rs79852917		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:163292047T>A	ENST00000332142.5	-	8	1714	c.1615A>T	c.(1615-1617)Agg>Tgg	p.R539W	KCNH7_ENST00000328032.4_Missense_Mutation_p.R532W	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	539					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R532W(1)|p.R539W(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCCAGTTTCCTGGCCACGCGC	0.463																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(1615-1617)AGG>TGG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						70.0	68.0	69.0					2																	163292047		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163292047T>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1615A>T	2.37:g.163292047T>A	ENSP00000331727:p.Arg539Trp					KCNH7_uc002uci.2_Missense_Mutation_p.R532W	p.R539W	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			8	1827	-			539			Helical; Voltage-sensor; Name=Segment S4; (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1615A>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166474	0.78339	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99523	-6.08;-6.08	6.16	1.05	0.20165	Ion transport (1);	0.086860	0.85682	D	0.000000	D	0.99585	0.9850	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98771	1.0728	10	0.87932	D	0	.	10.4336	0.44421	0.0:0.076:0.4035:0.5205	.	532;539	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	W	539;532	ENSP00000331727:R539W;ENSP00000333781:R532W	ENSP00000333781:R532W	R	-	1	2	KCNH7	163000293	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.226000	0.32563	0.627000	0.30340	0.528000	0.53228	AGG		PASS	0.463	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		20	83	20	83	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166183444	166183444	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:166183444C>G	ENST00000375437.2	+	13	2389	c.2099C>G	c.(2098-2100)tCa>tGa	p.S700*	SCN2A_ENST00000283256.6_Nonsense_Mutation_p.S700*|SCN2A_ENST00000357398.3_Nonsense_Mutation_p.S700*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.S700*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	700					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S700*(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCCTACATCAAGGCAAAGA	0.393																																						uc002udc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(2098-2100)TCA>TGA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						177.0	163.0	168.0					2																	166183444		2203	4300	6503	SO:0001587	stop_gained	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166183444C>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2099C>G	2.37:g.166183444C>G	ENSP00000364586:p.Ser700*					SCN2A_uc002udd.2_Nonsense_Mutation_p.S700*|SCN2A_uc002ude.2_Nonsense_Mutation_p.S700*	p.S700*	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			13	2389	+			700					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Nonsense_Mutation	SNP	ENST00000375437.2	37	c.2099C>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	40	8.318850	0.98757	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.8	4.89	0.63831	.	0.778608	0.11717	N	0.536282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	10.321	0.43767	0.0:0.7942:0.1356:0.0702	.	.	.	.	X	700	.	ENSP00000283256:S700X	S	+	2	0	SCN2A	165891690	0.131000	0.22433	0.983000	0.44433	0.991000	0.79684	0.621000	0.24418	2.732000	0.93576	0.650000	0.86243	TCA		PASS	0.393	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		29	180	29	180	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166903458	166903458	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:166903458A>T	ENST00000303395.4	-	9	1198	c.1199T>A	c.(1198-1200)aTg>aAg	p.M400K	SCN1A_ENST00000423058.2_Missense_Mutation_p.M400K|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.M400K|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.M400K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	400					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.M400K(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAAAATATCATGTACGTTTT	0.383																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1198-1200)ATG>AAG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						97.0	94.0	95.0					2																	166903458		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166903458A>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1199T>A	2.37:g.166903458A>T	ENSP00000303540:p.Met400Lys					SCN1A_uc002udo.3_Missense_Mutation_p.M269K|SCN1A_uc010fpk.2_Missense_Mutation_p.M269K	p.M400K	NM_006920	NP_008851	P35498	SCN1A_HUMAN			9	1217	-			400			Helical; Name=S6 of repeat I; (By similarity).|I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1199T>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.988821	0.93106	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.92507	3.315	0.80722	D	1	D;D;D	0.71674	0.988;0.998;0.985	P;D;D	0.80764	0.805;0.994;0.977	D	0.99342	1.0912	10	0.87932	D	0	.	15.8917	0.79303	1.0:0.0:0.0:0.0	.	400;400;400	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	K	400	ENSP00000407030:M400K;ENSP00000303540:M400K;ENSP00000364554:M400K;ENSP00000386312:M400K	ENSP00000303540:M400K	M	-	2	0	SCN1A	166611704	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.284000	0.95882	2.212000	0.71576	0.533000	0.62120	ATG		PASS	0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		12	161	12	161	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099807	168099807	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:168099807C>G	ENST00000409195.1	+	9	1994	c.1905C>G	c.(1903-1905)gaC>gaG	p.D635E	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D635E|XIRP2_ENST00000409273.1_Missense_Mutation_p.D413E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	460					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D635E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTCTTCTGACACTGTAGAAA	0.433																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(1903-1905)GAC>GAG		xin actin-binding repeat containing 2 isoform 1							66.0	68.0	67.0					2																	168099807		1931	4124	6055	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099807C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1905C>G	2.37:g.168099807C>G	ENSP00000386840:p.Asp635Glu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D460E|XIRP2_uc010fpq.2_Missense_Mutation_p.D413E|XIRP2_uc010fpr.2_Intron	p.D635E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	1923	+			460					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1905C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	5.155	0.214126	0.09810	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02323	4.34;4.34;4.34	5.93	-3.68	0.04463	.	1.153560	0.06025	N	0.651933	T	0.01661	0.0053	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.46470	-0.9189	10	0.02654	T	1	3.7626	1.5232	0.02520	0.2537:0.2736:0.0871:0.3856	.	460;460;413	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	635;635;413	ENSP00000386840:D635E;ENSP00000295237:D635E;ENSP00000387255:D413E	ENSP00000295237:D635E	D	+	3	2	XIRP2	167808053	0.000000	0.05858	0.000000	0.03702	0.790000	0.44656	-0.213000	0.09305	-0.329000	0.08527	-0.137000	0.14449	GAC		PASS	0.433	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		20	98	20	98	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366466	170366466	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:170366466G>C	ENST00000284669.1	+	1	255	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	60	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.E60Q(1)									TTACTTCCGTGAGTACTTTTT	0.388																																						uc002ueu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)GAG>CAG		kelch repeat and BTB (POZ) domain containing 10							141.0	140.0	140.0					2																	170366466		2203	4300	6503	SO:0001583	missense	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170366466G>C	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.178G>C	2.37:g.170366466G>C	ENSP00000284669:p.Glu60Gln					KBTBD10_uc010zdh.1_Intron	p.E60Q	NM_006063	NP_006054	O60662	KBTBA_HUMAN			1	255	+			60			BTB.		Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.178G>C	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975309	0.74360	.	.	ENSG00000239474	ENST00000284669	T	0.68181	-0.31	5.17	5.17	0.71159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	L	0.46885	1.475	0.80722	D	1	D	0.59767	0.986	D	0.63703	0.917	T	0.79032	-0.1969	10	0.72032	D	0.01	.	18.6673	0.91495	0.0:0.0:1.0:0.0	.	60	O60662	KBTBA_HUMAN	Q	60	ENSP00000284669:E60Q	ENSP00000284669:E60Q	E	+	1	0	KBTBD10	170074712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.431000	0.97494	2.411000	0.81874	0.585000	0.79938	GAG		PASS	0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		58	269	58	269	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178545563	178545563	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:178545563T>C	ENST00000286063.6	-	16	2731	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	PDE11A_ENST00000358450.4_Missense_Mutation_p.D555G|PDE11A_ENST00000449286.2_Missense_Mutation_p.D447G|PDE11A_ENST00000389683.3_Missense_Mutation_p.D361G|PDE11A_ENST00000409504.1_Missense_Mutation_p.D447G	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	805	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.D805G(1)|p.D555G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CCGAAATATATCACGATGGTT	0.328									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(2413-2415)GAT>GGT		phosphodiesterase 11A isoform 4							130.0	123.0	125.0					2																	178545563		2202	4298	6500	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178545563T>C	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2414A>G	2.37:g.178545563T>C	ENSP00000286063:p.Asp805Gly					PDE11A_uc002ulp.2_Missense_Mutation_p.D361G|PDE11A_uc002ulr.2_Missense_Mutation_p.D555G|PDE11A_uc002uls.1_Missense_Mutation_p.D447G|PDE11A_uc002ult.1_Missense_Mutation_p.D555G|PDE11A_uc002ulu.1_Missense_Mutation_p.D447G	p.D805G	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		16	2732	-			805			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2414A>G	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.58|12.58	1.980788|1.980788	0.34942|0.34942	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000433879	T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-1.45;-1.45|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.378221|.	0.33670|.	N|.	0.004677|.	T|T	0.60958|0.60958	0.2309|0.2309	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;B|.	0.28178|.	0.082;0.202|.	B;B|.	0.32090|.	0.037;0.14|.	T|T	0.59085|0.59085	-0.7520|-0.7520	10|5	0.48119|.	T|.	0.1|.	.|.	11.4648|11.4648	0.50232|0.50232	0.1342:0.0:0.0:0.8658|0.1342:0.0:0.0:0.8658	.|.	555;805|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	G|V	805;555;447;361;447|413	ENSP00000286063:D805G;ENSP00000351232:D555G;ENSP00000386539:D447G;ENSP00000374333:D361G;ENSP00000390599:D447G|.	ENSP00000286063:D805G|.	D|I	-|-	2|1	0|0	PDE11A|PDE11A	178253809|178253809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.875000|0.875000	0.50365|0.50365	4.653000|4.653000	0.61462|0.61462	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAT|ATA		PASS	0.328	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			11	61	11	61	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179413051	179413051	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:179413051G>T	ENST00000591111.1	-	289	88603	c.88379C>A	c.(88378-88380)cCc>cAc	p.P29460H	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P22036H|TTN_ENST00000342175.6_Missense_Mutation_p.P22228H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P28533H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P31101H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22161H			Q8WZ42	TITIN_HUMAN	titin	29460	Fibronectin type-III 114. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.P28533H(1)|p.P22036H(1)|p.P22228H(1)|p.P28531H(1)|p.P22161H(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)			CATTTCATAGGGCTCACCAAC	0.468																																						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.(85597-85599)CCC>CAC		titin isoform N2-A							192.0	194.0	193.0					2																	179413051		2073	4202	6275	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413051G>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.88379C>A	2.37:g.179413051G>T	ENSP00000465570:p.Pro29460His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P22228H|TTN_uc010zfi.1_Missense_Mutation_p.P22161H|TTN_uc010zfj.1_Missense_Mutation_p.P22036H	p.P28533H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85822	-			29460					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.85598C>A		.	.	.	.	.	.	.	.	.	.	G	17.03	3.284620	0.59867	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.65	5.65	0.86999	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85309	0.5667	H	0.99312	4.51	0.53005	D	0.999964	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.987;0.95;0.95;0.993	D	0.91380	0.5126	9	0.87932	D	0	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	22036;22161;22228;29460	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28533;22036;22228;22161;22033	ENSP00000343764:P28533H;ENSP00000434586:P22036H;ENSP00000340554:P22228H;ENSP00000352154:P22161H	ENSP00000340554:P22228H	P	-	2	0	TTN	179121297	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	CCC		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	212	46	212	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179417146	179417146	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:179417146G>T	ENST00000591111.1	-	285	85782	c.85558C>A	c.(85558-85560)Cca>Aca	p.P28520T	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P21096T|TTN_ENST00000342175.6_Missense_Mutation_p.P21288T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27593T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30161T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21221T			Q8WZ42	TITIN_HUMAN	titin	28520	Ig-like 132.				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.P27593T(1)|p.P21288T(1)|p.P21096T(1)|p.P21221T(1)|p.P27591T(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)			CTGATGGATGGTTTGGGTTTT	0.408																																						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.(82777-82779)CCA>ACA		titin isoform N2-A							86.0	82.0	83.0					2																	179417146		1867	4113	5980	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417146G>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.85558C>A	2.37:g.179417146G>T	ENSP00000465570:p.Pro28520Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21288T|TTN_uc010zfi.1_Missense_Mutation_p.P21221T|TTN_uc010zfj.1_Missense_Mutation_p.P21096T	p.P27593T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	83001	-			28520					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.82777C>A		.	.	.	.	.	.	.	.	.	.	G	17.06	3.293550	0.60086	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88388	0.6423	M	0.91612	3.225	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	0.89781	0.3961	9	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	21096;21221;21288;28520	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27593;21096;21288;21221;21093	ENSP00000343764:P27593T;ENSP00000434586:P21096T;ENSP00000340554:P21288T;ENSP00000352154:P21221T	ENSP00000340554:P21288T	P	-	1	0	TTN	179125392	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CCA		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	55	10	55	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179452497	179452497	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:179452497A>G	ENST00000591111.1	-	256	58840	c.58616T>C	c.(58615-58617)aTg>aCg	p.M19539T	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M12115T|TTN_ENST00000342175.6_Missense_Mutation_p.M12307T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M18612T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M21180T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M12240T			Q8WZ42	TITIN_HUMAN	titin	19539	Ig-like 109.				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.M18612T(1)|p.M12240T(1)|p.M12115T(1)|p.M18610T(1)|p.M12307T(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)			CAGTTTCCTCATGCTGGCATC	0.423																																						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.(55834-55836)ATG>ACG		titin isoform N2-A							51.0	49.0	50.0					2																	179452497		1895	4125	6020	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452497A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58616T>C	2.37:g.179452497A>G	ENSP00000465570:p.Met19539Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M12307T|TTN_uc010zfi.1_Missense_Mutation_p.M12240T|TTN_uc010zfj.1_Missense_Mutation_p.M12115T	p.M18612T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		255	56059	-			19539					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.55835T>C		.	.	.	.	.	.	.	.	.	.	A	10.91	1.484030	0.26598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62105	0.05;0.29;0.27;0.26	6.01	4.87	0.63330	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51805	0.1696	L	0.34521	1.04	0.41765	D	0.989731	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.10450	0.005;0.005;0.005;0.005	T	0.50039	-0.8874	9	0.87932	D	0	.	11.9379	0.52884	0.9327:0.0:0.0673:0.0	.	12115;12240;12307;19539	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	18612;12115;12307;12240;12113	ENSP00000343764:M18612T;ENSP00000434586:M12115T;ENSP00000340554:M12307T;ENSP00000352154:M12240T	ENSP00000340554:M12307T	M	-	2	0	TTN	179160743	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.281000	0.95811	1.113000	0.41760	0.528000	0.53228	ATG		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	69	7	69	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179479391	179479391	+	Missense_Mutation	SNP	C	C	T	rs368527534		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:179479391C>T	ENST00000591111.1	-	211	44151	c.43927G>A	c.(43927-43929)Gga>Aga	p.G14643R	RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7219R|TTN_ENST00000342175.6_Missense_Mutation_p.G7411R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13716R|TTN_ENST00000589042.1_Missense_Mutation_p.G16284R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7344R			Q8WZ42	TITIN_HUMAN	titin	14643	Ig-like 96.				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.G13716R(3)|p.G7411R(2)|p.G7344R(2)|p.G7219R(2)		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)			TCAGGTTTTCCGGTTACGGTG	0.438																																						uc010zfg.1																			9	Substitution - Missense(9)		lung(9)	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.(41146-41148)GGA>AGA		titin isoform N2-A		C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,3727		0,1,1863	97.0	88.0	91.0		21655,41146,22030,22231	5.6	1.0	2		91	0,8200		0,0,4100	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	125,125,125,125	0,1,5963	TT,TC,CC		0.0,0.0268,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	7219/26927,13716/33424,7344/27052,7411/27119	179479391	1,11927	1864	4100	5964	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179479391C>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.43927G>A	2.37:g.179479391C>T	ENSP00000465570:p.Gly14643Arg					uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.G7411R|TTN_uc010zfi.1_Missense_Mutation_p.G7344R|TTN_uc010zfj.1_Missense_Mutation_p.G7219R	p.G13716R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		210	41370	-			14643					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.41146G>A		.	.	.	.	.	.	.	.	.	.	C	15.34	2.804709	0.50315	2.68E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94618	0.8265	H	0.99026	4.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96283	0.9208	9	0.87932	D	0	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	7219;7344;7411;14643	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	13716;7219;7411;7344;7219	ENSP00000343764:G13716R;ENSP00000434586:G7219R;ENSP00000340554:G7411R;ENSP00000352154:G7344R	ENSP00000340554:G7411R	G	-	1	0	TTN	179187636	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.729000	0.84864	2.805000	0.96524	0.655000	0.94253	GGA		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	71	15	71	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179482119	179482119	+	Missense_Mutation	SNP	C	C	T	rs376278449		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:179482119C>T	ENST00000591111.1	-	204	42994	c.42770G>A	c.(42769-42771)cGa>cAa	p.R14257Q	RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6833Q|TTN_ENST00000342175.6_Missense_Mutation_p.R7025Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13330Q|TTN_ENST00000589042.1_Missense_Mutation_p.R15898Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6958Q			Q8WZ42	TITIN_HUMAN	titin	14257	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R13330Q(2)|p.R6958Q(1)|p.R6833Q(1)|p.R7025Q(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)			TTCTTCGCATCGCTCAATTAT	0.383																																						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.(39988-39990)CGA>CAA		titin isoform N2-A		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3710		0,0,1855	101.0	90.0	93.0		20498,39989,20873,21074	4.1	1.0	2		93	1,8195		0,1,4097	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,1,5952	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	6833/26927,13330/33424,6958/27052,7025/27119	179482119	1,11905	1855	4098	5953	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482119C>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.42770G>A	2.37:g.179482119C>T	ENSP00000465570:p.Arg14257Gln					TTN_uc010zfh.1_Missense_Mutation_p.R7025Q|TTN_uc010zfi.1_Missense_Mutation_p.R6958Q|TTN_uc010zfj.1_Missense_Mutation_p.R6833Q	p.R13330Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		203	40213	-			14257					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.39989G>A		.	.	.	.	.	.	.	.	.	.	C	13.09	2.133781	0.37630	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.93	4.14	0.48551	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58192	0.2105	M	0.74881	2.28	0.31538	N	0.660311	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	P;P;P;P	0.46629	0.522;0.522;0.522;0.522	T	0.69232	-0.5199	9	0.87932	D	0	.	12.0865	0.53700	0.0:0.8625:0.0:0.1375	.	6833;6958;7025;14257	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	13330;6833;7025;6958;6833	ENSP00000343764:R13330Q;ENSP00000434586:R6833Q;ENSP00000340554:R7025Q;ENSP00000352154:R6958Q	ENSP00000340554:R7025Q	R	-	2	0	TTN	179190364	0.704000	0.27836	0.990000	0.47175	0.847000	0.48162	2.665000	0.46791	1.518000	0.48934	0.655000	0.94253	CGA		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	28	7	28	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179596050	179596050	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:179596050C>T	ENST00000591111.1	-	57	16716	c.16492G>A	c.(16492-16494)Gca>Aca	p.A5498T	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A4571T|TTN_ENST00000589042.1_Missense_Mutation_p.A5815T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12325	Ig-like 35.				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.A4571T(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)			GAGAGTAATGCAGAACATCTT	0.433																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13711-13713)GCA>ACA		titin isoform N2-A							300.0	291.0	294.0					2																	179596050		1937	4148	6085	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596050C>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.16492G>A	2.37:g.179596050C>T	ENSP00000465570:p.Ala5498Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1232T	p.A4571T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	13935	-			5498					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.13711G>A		.	.	.	.	.	.	.	.	.	.	C	12.55	1.971712	0.34754	.	.	ENSG00000155657	ENST00000342992	T	0.70399	-0.48	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86310	0.5902	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87399	0.2368	9	0.87932	D	0	.	19.8965	0.96963	0.0:1.0:0.0:0.0	.	5498	Q8WZ42	TITIN_HUMAN	T	4571	ENSP00000343764:A4571T	ENSP00000343764:A4571T	A	-	1	0	TTN	179304295	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	GCA		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		78	565	78	565	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801203	185801203	+	Silent	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:185801203C>A	ENST00000302277.6	+	4	1674	c.1080C>A	c.(1078-1080)tcC>tcA	p.S360S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	360							metal ion binding (GO:0046872)	p.S360S(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						GAAATAAATCCACAGTTCTTG	0.363																																						uc002uph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1078-1080)TCC>TCA		zinc finger protein 804A							57.0	54.0	55.0					2																	185801203		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185801203C>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.1080C>A	2.37:g.185801203C>A							p.S360S	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1674	+			360					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.1080C>A	CCDS2291.1																																																																																				PASS	0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		12	111	12	111	---	---	---	---
GULP1	51454	broad.mit.edu	37	2	189387534	189387534	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:189387534G>T	ENST00000409580.1	+	6	856	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409637.3_Missense_Mutation_p.D48Y|GULP1_ENST00000409609.1_Missense_Mutation_p.D48Y|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000409843.1_Missense_Mutation_p.D48Y|GULP1_ENST00000409830.1_Missense_Mutation_p.D48Y|GULP1_ENST00000410051.1_Missense_Mutation_p.D48Y|GULP1_ENST00000359135.3_Missense_Mutation_p.D48Y			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	48	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)	p.D48Y(1)		endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			AGTTGTGAGAGATGCTGTAAG	0.383																																					Pancreas(178;563 2065 20199 42378 52815)	uc010fru.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)GAT>TAT		GULP, engulfment adaptor PTB domain containing							139.0	135.0	137.0					2																	189387534		2203	4300	6503	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189387534G>T	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.142G>T	2.37:g.189387534G>T	ENSP00000386289:p.Asp48Tyr					GULP1_uc002uqc.3_Missense_Mutation_p.D48Y|GULP1_uc002uqd.2_Missense_Mutation_p.D48Y|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Missense_Mutation_p.D48Y|GULP1_uc002uqf.2_Missense_Mutation_p.D48Y|GULP1_uc002uqg.2_Missense_Mutation_p.D48Y	p.D48Y	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		5	603	+			48			PID.		B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.142G>T	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512110	0.85389	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000409927;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.58	5.58	0.84498	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.049028	0.85682	D	0.000000	T	0.45816	0.1361	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.971;0.987;1.0	P;D;D	0.91635	0.837;0.934;0.999	T	0.35992	-0.9766	10	0.87932	D	0	-8.6868	17.0634	0.86553	0.0:0.0:1.0:0.0	.	48;48;48	Q9UBP9;B8ZZ72;Q9UBP9-2	GULP1_HUMAN;.;.	Y	48	ENSP00000387144:D48Y;ENSP00000386732:D48Y;ENSP00000387013:D48Y;ENSP00000386809:D48Y;ENSP00000352047:D48Y;ENSP00000386289:D48Y;ENSP00000386402:D48Y;ENSP00000386867:D48Y	ENSP00000352047:D48Y	D	+	1	0	GULP1	189095779	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	8.228000	0.89789	2.638000	0.89438	0.467000	0.42956	GAT		PASS	0.383	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		15	103	15	103	---	---	---	---
BOLL	66037	broad.mit.edu	37	2	198631324	198631324	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:198631324G>T	ENST00000392296.4	-	7	793	c.484C>A	c.(484-486)Cgt>Agt	p.R162S	BOLL_ENST00000321801.7_Missense_Mutation_p.R174S|BOLL_ENST00000282278.8_Missense_Mutation_p.R53S|BOLL_ENST00000430004.1_Missense_Mutation_p.R162S|BOLL_ENST00000433157.1_Missense_Mutation_p.R162S|AC011997.1_ENST00000409845.1_Intron	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	162					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.R162S(1)|p.R174S(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CATACAGAACGTGACTATAAA	0.343																																						uc002uus.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(484-486)CGT>AGT		boule isoform 2							60.0	63.0	62.0					2																	198631324		2203	4300	6503	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198631324G>T		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.484C>A	2.37:g.198631324G>T	ENSP00000376116:p.Arg162Ser					uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.R168S|BOLL_uc002uut.2_Missense_Mutation_p.R174S|BOLL_uc010zha.1_Missense_Mutation_p.R53S|BOLL_uc002uuu.1_Missense_Mutation_p.R168S	p.R162S	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			7	794	-			162					B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.484C>A	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564629	0.45694	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.26810	1.71;1.82;1.82;1.82	4.63	4.63	0.57726	.	0.000000	0.51477	D	0.000085	T	0.37100	0.0991	N	0.24115	0.695	0.42518	D	0.992996	D;B;D;B;B	0.71674	0.998;0.173;0.988;0.037;0.063	D;B;P;B;B	0.80764	0.994;0.106;0.812;0.023;0.052	T	0.32693	-0.9897	10	0.87932	D	0	-14.8333	15.4122	0.74937	0.0:0.0:1.0:0.0	.	53;168;174;162;168	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	S	162;162;174;53;162	ENSP00000397711:R162S;ENSP00000376116:R162S;ENSP00000314792:R174S;ENSP00000396099:R162S	ENSP00000282278:R53S	R	-	1	0	BOLL	198339569	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.149000	0.58091	2.406000	0.81754	0.591000	0.81541	CGT		PASS	0.343	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		6	43	6	43	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201501731	201501731	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:201501731G>C	ENST00000374700.2	+	22	2685	c.2444G>C	c.(2443-2445)gGa>gCa	p.G815A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	815					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.G815A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTAAAAACCGGAATCATTGCA	0.458																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2443-2445)GGA>GCA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						169.0	145.0	153.0					2																	201501731		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201501731G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2444G>C	2.37:g.201501731G>C	ENSP00000363832:p.Gly815Ala					AOX1_uc010zhf.1_Missense_Mutation_p.G371A|AOX1_uc010fsu.2_Missense_Mutation_p.G181A	p.G815A	NM_001159	NP_001150	Q06278	ADO_HUMAN			22	2545	+			815					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2444G>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.869137	0.00547	.	.	ENSG00000138356	ENST00000374700	T	0.35973	1.28	5.43	4.53	0.55603	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.393945	0.27976	N	0.017094	T	0.11623	0.0283	N	0.00686	-1.255	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.17167	-1.0378	10	0.02654	T	1	-9.8518	16.1455	0.81563	0.0:0.1338:0.8662:0.0	.	815	Q06278	ADO_HUMAN	A	815	ENSP00000363832:G815A	ENSP00000363832:G815A	G	+	2	0	AOX1	201209976	0.726000	0.28059	0.008000	0.14137	0.005000	0.04900	4.972000	0.63756	1.486000	0.48398	0.585000	0.79938	GGA		PASS	0.458	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		17	66	17	66	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202400915	202400915	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:202400915C>G	ENST00000286195.3	-	13	1379	c.1335G>C	c.(1333-1335)ttG>ttC	p.L445F	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.L445F|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.L445F|ALS2CR11_ENST00000439802.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	445								p.L445F(3)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AAATAGTGCACAATGAGTGCA	0.383																																						uc002uye.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1333-1335)TTG>TTC		amyotrophic lateral sclerosis 2 (juvenile)							165.0	153.0	158.0					2																	202400915		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202400915C>G	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1335G>C	2.37:g.202400915C>G	ENSP00000286195:p.Leu445Phe					ALS2CR11_uc002uyf.2_Missense_Mutation_p.L445F|ALS2CR11_uc010fti.2_Intron	p.L445F	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			13	1383	-			445					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.1335G>C	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489441	0.26686	.	.	ENSG00000155754	ENST00000286195;ENST00000439140;ENST00000450242	T;T;T	0.58060	0.39;0.36;0.85	4.84	-1.65	0.08291	.	1.254950	0.05990	N	0.645869	T	0.34600	0.0903	L	0.40543	1.245	0.09310	N	1	P;B	0.34639	0.461;0.215	B;B	0.34873	0.191;0.105	T	0.14868	-1.0457	10	0.13108	T	0.6	.	0.2768	0.00239	0.2991:0.2888:0.1462:0.2658	.	445;445	E9PGG4;Q53TS8	.;AL2SA_HUMAN	F	445	ENSP00000286195:L445F;ENSP00000409937:L445F;ENSP00000399016:L445F	ENSP00000286195:L445F	L	-	3	2	ALS2CR11	202109160	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.327000	0.02682	-0.190000	0.10465	-0.229000	0.12294	TTG		PASS	0.383	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		52	260	52	260	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	210888922	210888922	+	Silent	SNP	A	A	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:210888922A>C	ENST00000281772.9	-	14	2831	c.2568T>G	c.(2566-2568)gcT>gcG	p.A856A	KANSL1L_ENST00000418791.1_Silent_p.A814A	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	856						histone acetyltransferase complex (GO:0000123)		p.A856A(1)									TTTTACTGTAAGCTCTAGCAA	0.373																																						uc002vds.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2566-2568)GCT>GCG		hypothetical protein LOC151050							58.0	59.0	58.0					2																	210888922		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:210888922A>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2568T>G	2.37:g.210888922A>C						C2orf67_uc002vdt.2_Silent_p.A814A	p.A856A	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	14	2776	-		Renal(323;0.202)	856					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.2568T>G	CCDS33370.1																																																																																				PASS	0.373	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		16	85	16	85	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211473090	211473090	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:211473090C>T	ENST00000233072.5	+	19	2394	c.2198C>T	c.(2197-2199)cCa>cTa	p.P733L	CPS1_ENST00000451903.2_Missense_Mutation_p.P282L|CPS1_ENST00000430249.2_Missense_Mutation_p.P739L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	733	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.P739L(1)|p.P733L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TATAGCTACCCATTGGCATTC	0.358																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2197-2199)CCA>CTA		carbamoyl-phosphate synthetase 1 isoform b							81.0	81.0	81.0					2																	211473090		2203	4299	6502	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211473090C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2198C>T	2.37:g.211473090C>T	ENSP00000233072:p.Pro733Leu					CPS1_uc010fur.2_Missense_Mutation_p.P739L|CPS1_uc010fus.2_Missense_Mutation_p.P282L	p.P733L	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	19	2330	+			733			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2198C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030196	0.93575	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97710	-4.5;-4.5;-4.5	6.16	6.16	0.99307	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	H	0.99806	4.795	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.66351	0.943;0.943	D	0.97882	1.0292	10	0.87932	D	0	-4.2496	20.8598	0.99761	0.0:1.0:0.0:0.0	.	743;733	Q59HF8;P31327	.;CPSM_HUMAN	L	739;741;733;282	ENSP00000402608:P739L;ENSP00000233072:P733L;ENSP00000406136:P282L	ENSP00000233072:P733L	P	+	2	0	CPS1	211181335	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCA		PASS	0.358	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			18	172	18	172	---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219297587	219297587	+	Silent	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:219297587T>C	ENST00000248444.5	+	13	1501	c.1413T>C	c.(1411-1413)aaT>aaC	p.N471N	VIL1_ENST00000392114.2_Silent_p.N160N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	471	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.N471N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGTACAATGGTGAACCAG	0.557																																						uc002via.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1411-1413)AAT>AAC		villin 1							122.0	89.0	100.0					2																	219297587		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219297587T>C	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1413T>C	2.37:g.219297587T>C						VIL1_uc010zke.1_Silent_p.N160N|VIL1_uc002vib.2_Silent_p.N471N	p.N471N	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1478	+		Renal(207;0.0474)	471			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.1413T>C	CCDS2417.1																																																																																				PASS	0.557	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		17	52	17	52	---	---	---	---
CCL20	6364	broad.mit.edu	37	2	228681066	228681066	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:228681066C>A	ENST00000358813.4	+	3	293	c.235C>A	c.(235-237)Cag>Aag	p.Q79K	CCL20_ENST00000409189.3_Missense_Mutation_p.Q78K|CCL20_ENST00000473642.1_3'UTR			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	79					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.Q79K(1)		cervix(1)|lung(2)	3		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;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AAATCCAAAACAGACTTGGGT	0.383																																						uc002vpl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)CAG>AAG		chemokine (C-C motif) ligand 20 isoform 1							100.0	98.0	98.0					2																	228681066		2203	4300	6503	SO:0001583	missense	6364				cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr2:228681066C>A	D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.235C>A	2.37:g.228681066C>A	ENSP00000351671:p.Gln79Lys					CCL20_uc002vpm.2_Missense_Mutation_p.Q78K	p.Q79K	NM_004591	NP_004582	P78556	CCL20_HUMAN		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	3	305	+		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)	79					Q53S51|Q99664	Missense_Mutation	SNP	ENST00000358813.4	37	c.235C>A	CCDS2469.1	.	.	.	.	.	.	.	.	.	.	C	7.211	0.595394	0.13875	.	.	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.03831	3.79;3.79	5.19	-6.66	0.01789	Chemokine interleukin-8-like domain (3);	0.636038	0.16264	N	0.222108	T	0.02494	0.0076	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43909	-0.9362	9	0.17369	T	0.5	-0.3933	12.8101	0.57635	0.1527:0.7554:0.0919:0.0	.	78;79	P78556-2;P78556	.;CCL20_HUMAN	K	78;79	ENSP00000386273:Q78K;ENSP00000351671:Q79K	ENSP00000351671:Q79K	Q	+	1	0	CCL20	228389310	0.002000	0.14202	0.029000	0.17559	0.003000	0.03518	-0.277000	0.08502	-0.879000	0.04002	-0.320000	0.08662	CAG		PASS	0.383	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331641.1	NM_004591		17	104	17	104	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230453205	230453205	+	Splice_Site	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:230453205C>A	ENST00000341772.4	-	3	720		c.e3-1		DNER_ENST00000482831.1_5'Flank	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTGGGATCACCTGGGAAGGGA	0.433																																						uc002vpv.2																			1	Unknown(1)		lung(1)	lung(5)|ovary(2)|skin(1)	8						c.e3-1		delta-notch-like EGF repeat-containing							49.0	52.0	51.0					2																	230453205		2203	4300	6503	SO:0001630	splice_region_variant	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230453205C>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.586-1G>T	2.37:g.230453205C>A						DNER_uc010zly.1_5'Flank	p.V196_splice	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	3	733	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)						A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Splice_Site	SNP	ENST00000341772.4	37	c.586_splice	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265363	0.59431	.	.	ENSG00000187957	ENST00000341772	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2637	0.90044	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNER	230161449	1.000000	0.71417	0.999000	0.59377	0.666000	0.39218	5.335000	0.65929	2.324000	0.78689	0.563000	0.77884	.		PASS	0.433	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	Intron	9	41	9	41	---	---	---	---
SH3BP4	23677	broad.mit.edu	37	2	235950606	235950606	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:235950606C>G	ENST00000409212.1	+	4	1700	c.1193C>G	c.(1192-1194)tCa>tGa	p.S398*	SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.S398*|SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.S398*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	398					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.S398*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ATGAAAGTGTCAGCCGAGATA	0.527																																						uc002vvp.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1192-1194)TCA>TGA		SH3-domain binding protein 4							42.0	44.0	43.0					2																	235950606		2203	4300	6503	SO:0001587	stop_gained	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950606C>G	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1193C>G	2.37:g.235950606C>G	ENSP00000386862:p.Ser398*					SH3BP4_uc010fym.2_Nonsense_Mutation_p.S398*|SH3BP4_uc002vvq.2_Nonsense_Mutation_p.S398*	p.S398*	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1586	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	398					O95082|Q309A3|Q53QD0|Q53TD1	Nonsense_Mutation	SNP	ENST00000409212.1	37	c.1193C>G	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	38	6.655982	0.97739	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	.	.	.	5.62	5.62	0.85841	.	0.110169	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.3784	18.2252	0.89915	0.0:1.0:0.0:0.0	.	.	.	.	X	398	.	ENSP00000340237:S398X	S	+	2	0	SH3BP4	235615345	1.000000	0.71417	0.024000	0.17045	0.438000	0.31896	4.582000	0.60957	2.633000	0.89246	0.655000	0.94253	TCA		PASS	0.527	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			6	71	6	71	---	---	---	---
RNPEPL1	57140	broad.mit.edu	37	2	241515974	241515974	+	Silent	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr2:241515974C>G	ENST00000270357.4	+	9	1433	c.840C>G	c.(838-840)ctC>ctG	p.L280L	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	280					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L280L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		AGCGCTGGCTCAATGCCACAG	0.667																																						uc002vzi.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(838-840)CTC>CTG		arginyl aminopeptidase (aminopeptidase B)-like							14.0	17.0	16.0					2																	241515974		2192	4281	6473	SO:0001819	synonymous_variant	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241515974C>G			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.840C>G	2.37:g.241515974C>G						RNPEPL1_uc010fzf.2_Silent_p.L186L|RNPEPL1_uc002vzj.2_Intron	p.L280L	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	9	1433	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	280					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Silent	SNP	ENST00000270357.4	37	c.840C>G																																																																																					PASS	0.667	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		6	25	6	25	---	---	---	---
TGM4	7047	broad.mit.edu	37	3	44943025	44943025	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:44943025G>C	ENST00000296125.4	+	7	735	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	223					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.E223Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATGAGCTTTGAGAAAGGCCA	0.607																																						uc003coc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)GAG>CAG		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						68.0	61.0	63.0					3																	44943025		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943025G>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.667G>C	3.37:g.44943025G>C	ENSP00000296125:p.Glu223Gln					TGM4_uc003cob.2_RNA	p.E223Q	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	7	740	+			223					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.667G>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	2.518	-0.311299	0.05422	.	.	ENSG00000163810	ENST00000296125	D	0.88818	-2.43	2.61	-2.72	0.05968	.	0.562191	0.12879	U	0.431618	T	0.65037	0.2653	N	0.02345	-0.59	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.56402	-0.7985	10	0.25751	T	0.34	.	1.0777	0.01636	0.2347:0.3243:0.2799:0.1612	.	223	P49221	TGM4_HUMAN	Q	223	ENSP00000296125:E223Q	ENSP00000296125:E223Q	E	+	1	0	TGM4	44918029	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.408000	0.07169	-0.463000	0.06973	0.467000	0.42956	GAG		PASS	0.607	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		4	11	4	11	---	---	---	---
CACNA2D2	9254	broad.mit.edu	37	3	50404011	50404011	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:50404011C>G	ENST00000479441.1	-	31	2655	c.2656G>C	c.(2656-2658)Gag>Cag	p.E886Q	XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E879Q|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E879Q|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E880Q|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E879Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E887Q|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E810Q|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.E886Q|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	886					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E879Q(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ACACACACCTCATTGTTAACC	0.597																																						uc003daq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2656-2658)GAG>CAG		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						134.0	107.0	116.0					3																	50404011		2203	4299	6502	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50404011C>G	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2656G>C	3.37:g.50404011C>G	ENSP00000418081:p.Glu886Gln					CACNA2D2_uc003dap.2_Missense_Mutation_p.E879Q|CACNA2D2_uc003dao.2_5'Flank	p.E886Q	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	31	2694	-			886			Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.2656G>C	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406643	0.42715	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	4.84	4.84	0.62591	.	0.119003	0.56097	D	0.000033	T	0.58566	0.2131	L	0.44542	1.39	0.42021	D	0.99098	P;P	0.39940	0.57;0.696	B;B	0.35114	0.096;0.196	T	0.61098	-0.7131	10	0.39692	T	0.17	-22.406	9.7427	0.40429	0.0:0.8653:0.0:0.1347	.	886;879	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	Q	887;880;879;810;886;879;879;886	ENSP00000407393:E887Q;ENSP00000404631:E880Q;ENSP00000266039:E879Q;ENSP00000354228:E810Q;ENSP00000390526:E886Q;ENSP00000378519:E879Q;ENSP00000390329:E879Q;ENSP00000418081:E886Q	ENSP00000266039:E879Q	E	-	1	0	CACNA2D2	50379015	1.000000	0.71417	0.993000	0.49108	0.944000	0.59088	4.183000	0.58317	2.231000	0.72958	0.655000	0.94253	GAG		PASS	0.597	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		10	47	10	47	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52398929	52398929	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:52398929C>T	ENST00000420323.2	+	34	5673	c.5412C>T	c.(5410-5412)atC>atT	p.I1804I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1804					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I1804I(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTCTGGCATCGTGTCCGACC	0.607																																						uc011bef.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(3)	3						c.(5410-5412)ATC>ATT		dynein, axonemal, heavy chain 1							83.0	89.0	87.0					3																	52398929		2163	4257	6420	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52398929C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5412C>T	3.37:g.52398929C>T							p.I1804I	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	34	5673	+			1804					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5412C>T	CCDS46842.1																																																																																				PASS	0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		26	87	26	87	---	---	---	---
ITIH4	3700	broad.mit.edu	37	3	52851038	52851038	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:52851038G>A	ENST00000266041.4	-	21	2429	c.2333C>T	c.(2332-2334)gCt>gTt	p.A778V	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.A748V|ITIH4_ENST00000485816.1_Missense_Mutation_p.A783V|ITIH4_ENST00000346281.5_Missense_Mutation_p.A762V	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	778					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A778V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGAGAACCCAGCCTTCTCCCT	0.592																																						uc003dfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2332-2334)GCT>GTT		inter-alpha (globulin) inhibitor H4							117.0	119.0	118.0					3																	52851038		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52851038G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2333C>T	3.37:g.52851038G>A	ENSP00000266041:p.Ala778Val					ITIH4_uc011bel.1_Missense_Mutation_p.A492V|ITIH4_uc003dfy.2_Missense_Mutation_p.A573V|ITIH4_uc011bem.1_Missense_Mutation_p.A783V|ITIH4_uc011ben.1_Missense_Mutation_p.A748V	p.A778V	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	21	2369	-			778					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.2333C>T	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	9.020	0.984748	0.18889	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.47	0.968	0.19680	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	1.245950	0.05333	N	0.528604	T	0.16257	0.0391	L	0.60455	1.87	0.09310	N	1	P;B;B;B	0.40360	0.714;0.044;0.044;0.185	B;B;B;B	0.39971	0.315;0.069;0.069;0.132	T	0.27938	-1.0059	10	0.72032	D	0.01	-1.4349	4.4279	0.11513	0.0826:0.1237:0.518:0.2757	.	748;783;778;762	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	V	778;762;783;748;736	ENSP00000266041:A778V;ENSP00000340520:A762V;ENSP00000417824:A783V;ENSP00000384425:A748V	ENSP00000266041:A778V	A	-	2	0	ITIH4	52826078	0.000000	0.05858	0.008000	0.14137	0.135000	0.20990	-0.729000	0.04920	0.243000	0.21327	0.561000	0.74099	GCT		PASS	0.592	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		32	131	32	131	---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54930847	54930847	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:54930847C>T	ENST00000474759.1	+	26	2366	c.2318C>T	c.(2317-2319)gCc>gTc	p.A773V	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A679V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A773V|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A773V|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	773						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A773V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TACCGAAGAGCCGCTGAGCAG	0.527																																						uc003dhf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(2317-2319)GCC>GTC		calcium channel, voltage-dependent, alpha							120.0	121.0	121.0					3																	54930847		1972	4157	6129	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54930847C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2318C>T	3.37:g.54930847C>T	ENSP00000419101:p.Ala773Val					CACNA2D3_uc003dhg.1_Missense_Mutation_p.A679V|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_RNA	p.A773V	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	26	2366	+			773			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.2318C>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395345	0.96009	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.63010	0.2475	M	0.86343	2.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.67031	-0.5773	10	0.66056	D	0.02	.	18.0478	0.89338	0.0:1.0:0.0:0.0	.	773	Q8IZS8	CA2D3_HUMAN	V	773;773;773;679;679	ENSP00000389506:A773V;ENSP00000419101:A773V;ENSP00000288197:A773V;ENSP00000417279:A679V	ENSP00000288197:A773V	A	+	2	0	CACNA2D3	54905887	1.000000	0.71417	0.969000	0.41365	0.930000	0.56654	7.212000	0.77941	2.861000	0.98227	0.655000	0.94253	GCC		PASS	0.527	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			5	154	5	154	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78683154	78683154	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:78683154A>G	ENST00000464233.1	-	24	3525	c.3412T>C	c.(3412-3414)Tac>Cac	p.Y1138H	ROBO1_ENST00000495273.1_Missense_Mutation_p.Y1093H|ROBO1_ENST00000436010.2_Missense_Mutation_p.Y1099H|ROBO1_ENST00000467549.1_Missense_Mutation_p.Y1038H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1138					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.Y1138H(1)|p.Y1115H(1)|p.Y1093H(1)|p.Y1142H(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GATTGGTTGTATGGGATAGTT	0.398																																						uc003dqe.2																			4	Substitution - Missense(4)		lung(4)	large_intestine(2)	2						c.(3412-3414)TAC>CAC		roundabout 1 isoform a							253.0	239.0	244.0					3																	78683154		1912	4135	6047	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78683154A>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3412T>C	3.37:g.78683154A>G	ENSP00000420321:p.Tyr1138His					ROBO1_uc003dqb.2_Missense_Mutation_p.Y1099H|ROBO1_uc003dqc.2_Missense_Mutation_p.Y1038H|ROBO1_uc003dqd.2_Missense_Mutation_p.Y1093H|ROBO1_uc010hoh.2_Missense_Mutation_p.Y330H|ROBO1_uc011bgl.1_Missense_Mutation_p.Y710H	p.Y1138H	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	24	3620	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1138			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3412T>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.668626	0.47677	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.86066	0.5844	L	0.31664	0.95	0.58432	D	0.999998	D;B;D;D;B	0.76494	0.999;0.015;0.999;0.993;0.064	D;B;D;P;B	0.85130	0.996;0.017;0.997;0.85;0.054	D	0.85194	0.1011	9	.	.	.	.	16.1832	0.81925	1.0:0.0:0.0:0.0	.	1102;1138;1093;1038;1099	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	1099;1093;1138;1093;1038;1142	ENSP00000406043:Y1099H;ENSP00000420321:Y1138H;ENSP00000420637:Y1093H;ENSP00000417992:Y1038H	.	Y	-	1	0	ROBO1	78765844	1.000000	0.71417	0.931000	0.37212	0.219000	0.24729	8.962000	0.93254	2.228000	0.72767	0.533000	0.62120	TAC		PASS	0.398	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		17	84	17	84	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375001	113375001	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:113375001T>C	ENST00000478658.1	-	5	5545	c.5528A>G	c.(5527-5529)cAg>cGg	p.Q1843R	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q1843R			Q68DE3	K2018_HUMAN	KIAA2018	1843						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.Q1843R(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTATTCCTCTGATGTTCTGA	0.443																																						uc003eam.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(5527-5529)CAG>CGG		hypothetical protein LOC205717							95.0	92.0	93.0					3																	113375001		1964	4159	6123	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375001T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5528A>G	3.37:g.113375001T>C	ENSP00000420721:p.Gln1843Arg					KIAA2018_uc003eal.2_Missense_Mutation_p.Q1787R	p.Q1843R	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	5939	-			1843					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.5528A>G	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741801	0.30865	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.18810	2.19;2.19	5.9	3.28	0.37604	.	0.266108	0.37955	N	0.001866	T	0.12220	0.0297	L	0.29908	0.895	0.29955	N	0.819902	P	0.39391	0.671	B	0.32211	0.142	T	0.09422	-1.0675	10	0.09338	T	0.73	-1.7944	13.8613	0.63561	0.0:0.0:0.4301:0.5699	.	1843	Q68DE3	K2018_HUMAN	R	1843	ENSP00000320794:Q1843R;ENSP00000420721:Q1843R	ENSP00000320794:Q1843R	Q	-	2	0	KIAA2018	114857691	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.919000	0.48836	0.956000	0.37904	0.529000	0.55759	CAG		PASS	0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		19	209	19	209	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124951424	124951424	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:124951424C>G	ENST00000360647.4	-	9	2631	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	ZNF148_ENST00000484491.1_Missense_Mutation_p.E716Q|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.E716Q|ZNF148_ENST00000544464.1_Missense_Mutation_p.E53Q|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.E716Q|ZNF148_ENST00000468369.1_Missense_Mutation_p.E66Q	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	716					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E716Q(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GGCTGGGCCTCAGCTTTCTTC	0.473																																						uc003ehx.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(2146-2148)GAG>CAG		zinc finger protein 148							130.0	120.0	124.0					3																	124951424		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951424C>G	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2146G>C	3.37:g.124951424C>G	ENSP00000353863:p.Glu716Gln					SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.E716Q|ZNF148_uc010hsa.2_Missense_Mutation_p.E716Q|ZNF148_uc003eia.3_Missense_Mutation_p.E716Q|ZNF148_uc003ehy.2_Missense_Mutation_p.E53Q	p.E716Q	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			9	2632	-			716					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.2146G>C	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665658	0.67700	.	.	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.26	5.26	0.73747	.	0.050142	0.85682	D	0.000000	T	0.44008	0.1273	N	0.19112	0.55	0.52501	D	0.999956	D;P	0.54207	0.965;0.941	P;P	0.52793	0.709;0.515	T	0.42749	-0.9433	10	0.56958	D	0.05	-14.0488	19.0462	0.93020	0.0:1.0:0.0:0.0	.	66;716	G5E9X2;Q9UQR1	.;ZN148_HUMAN	Q	716;66;716;53;716;716	ENSP00000353863:E716Q;ENSP00000420102:E66Q;ENSP00000420335:E716Q;ENSP00000437916:E53Q;ENSP00000419322:E716Q;ENSP00000420448:E716Q	ENSP00000353863:E716Q	E	-	1	0	ZNF148	126434114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.732000	0.93576	0.591000	0.81541	GAG		PASS	0.473	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		21	182	21	182	---	---	---	---
TPRA1	131601	broad.mit.edu	37	3	127295676	127295676	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:127295676C>A	ENST00000355552.3	-	5	782	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	TPRA1_ENST00000450633.2_Missense_Mutation_p.G136C|TPRA1_ENST00000296210.7_Missense_Mutation_p.G136C|TPRA1_ENST00000489960.1_Missense_Mutation_p.G136C|TPRA1_ENST00000465915.1_5'Flank	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	136					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.G136C(1)		endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						AAGGCCAGGCCCAGGATGATC	0.642																																						uc003ejl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)GGC>TGC		G protein-coupled receptor 175 isoform 1							73.0	73.0	73.0					3																	127295676		2203	4300	6503	SO:0001583	missense	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127295676C>A	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.406G>T	3.37:g.127295676C>A	ENSP00000347748:p.Gly136Cys					TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Missense_Mutation_p.G136C|TPRA1_uc010hsk.2_Missense_Mutation_p.G136C|TPRA1_uc003ejn.2_Missense_Mutation_p.G136C	p.G136C	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN			4	697	-			136			Helical; Name=3; (Potential).		A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Missense_Mutation	SNP	ENST00000355552.3	37	c.406G>T	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603568	0.87157	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111;ENST00000490643	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82116	-0.0616	9	0.87932	D	0	-31.7821	17.794	0.88564	0.0:1.0:0.0:0.0	.	136;136	Q86W33-3;Q86W33	.;TPRA1_HUMAN	C	136	.	ENSP00000296210:G136C	G	-	1	0	TPRA1	128778366	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.139000	0.77314	2.263000	0.75096	0.591000	0.81541	GGC		PASS	0.642	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		9	59	9	59	---	---	---	---
ACKR4	51554	broad.mit.edu	37	3	132320083	132320083	+	Missense_Mutation	SNP	T	T	C	rs546618608	byFrequency	TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:132320083T>C	ENST00000249887.2	+	2	938	c.842T>C	c.(841-843)aTg>aCg	p.M281T	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	281					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.M281T(1)									AGCAAACGCATGGACATCGCC	0.443													T|||	2	0.000399361	0.0015	0.0	5008	,	,		25091	0.0		0.0	False		,,,				2504	0.0					uc003eow.2																			1	Substitution - Missense(1)		lung(1)		0						c.(841-843)ATG>ACG		chemokine (C-C motif) receptor-like 1							149.0	146.0	147.0					3																	132320083		2202	4298	6500	SO:0001583	missense	51554				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:132320083T>C	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.842T>C	3.37:g.132320083T>C	ENSP00000249887:p.Met281Thr					ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.M281T	p.M281T	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN			2	925	+			281			Extracellular (Potential).		B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.842T>C	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208697	0.39003	.	.	ENSG00000129048	ENST00000249887	T	0.35973	1.28	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.195349	0.51477	D	0.000083	T	0.28400	0.0702	N	0.19112	0.55	0.44736	D	0.997733	B	0.17852	0.024	B	0.21151	0.033	T	0.06445	-1.0826	10	0.72032	D	0.01	.	15.722	0.77718	0.0:0.0:0.0:1.0	.	281	Q9NPB9	CCRL1_HUMAN	T	281	ENSP00000249887:M281T	ENSP00000249887:M281T	M	+	2	0	CCRL1	133802773	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.040000	0.89188	2.133000	0.65898	0.533000	0.62120	ATG		PASS	0.443	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		19	207	19	207	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134670815	134670815	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:134670815G>A	ENST00000398015.3	+	3	1096	c.726G>A	c.(724-726)ggG>ggA	p.G242G	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	242	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.G242G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACTGCAACGGGGATGGGGAAT	0.572																																						uc003eqt.2																			2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(724-726)GGG>GGA		ephrin receptor EphB1 precursor							168.0	166.0	167.0					3																	134670815		2121	4261	6382	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670815G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.726G>A	3.37:g.134670815G>A						EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	p.G242G	NM_004441	NP_004432	P54762	EPHB1_HUMAN			3	946	+			242			Extracellular (Potential).|Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.726G>A	CCDS46921.1																																																																																				PASS	0.572	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		45	283	45	283	---	---	---	---
PLS1	5357	broad.mit.edu	37	3	142408474	142408474	+	Silent	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:142408474G>C	ENST00000337777.3	+	10	1209	c.996G>C	c.(994-996)ctG>ctC	p.L332L	PLS1_ENST00000457734.2_Silent_p.L332L|PLS1_ENST00000497002.1_Silent_p.L332L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	332	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L332L(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CAAATGACCTGAAGCGTGCTG	0.338																																						uc010huv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(994-996)CTG>CTC		plastin 1							77.0	71.0	73.0					3																	142408474		2203	4300	6503	SO:0001819	synonymous_variant	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142408474G>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.996G>C	3.37:g.142408474G>C						PLS1_uc003euz.2_Silent_p.L332L|PLS1_uc003eva.2_Silent_p.L332L	p.L332L	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN			10	1155	+			332			Actin-binding 1.|CH 2.		A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP	ENST00000337777.3	37	c.996G>C	CCDS3125.1																																																																																				PASS	0.338	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		8	117	8	117	---	---	---	---
SELT	51714	broad.mit.edu	37	3	150344895	150344895	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:150344895G>C	ENST00000485923.1	+	5	776	c.388G>C	c.(388-390)Gat>Cat	p.D130H	SELT_ENST00000480740.1_Missense_Mutation_p.D130H|SELT_ENST00000471696.1_Missense_Mutation_p.D188H|SELT_ENST00000477889.1_Missense_Mutation_p.D130H			P62341	SELT_HUMAN		188					cell redox homeostasis (GO:0045454)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|pancreas development (GO:0031016)|selenocysteine incorporation (GO:0001514)	endoplasmic reticulum (GO:0005783)	selenium binding (GO:0008430)	p.D188H(1)						LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGTGCATATGGATTCAATCCC	0.383																																						uc011bnx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GAT>CAT		selenoprotein T precursor							142.0	135.0	137.0					3																	150344895		1917	4122	6039	SO:0001583	missense	51714				cell redox homeostasis|selenocysteine incorporation		selenium binding	g.chr3:150344895G>C																												ENST00000485923.1:c.388G>C	3.37:g.150344895G>C	ENSP00000420390:p.Asp130His						p.D188H	NM_016275	NP_057359	P62341	SELT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		6	646	+			188					O95904|Q8IY80|Q9CZ45|Q9NZJ3	Missense_Mutation	SNP	ENST00000485923.1	37	c.562G>C		.	.	.	.	.	.	.	.	.	.	G	16.89	3.248558	0.59103	.	.	ENSG00000198843	ENST00000480740;ENST00000471696;ENST00000477889;ENST00000485923	.	.	.	5.45	5.45	0.79879	Thioredoxin-like fold (2);	0.089315	0.85682	D	0.000000	T	0.43942	0.1270	N	0.14661	0.345	0.58432	D	0.999991	P	0.48911	0.917	B	0.44278	0.445	T	0.50575	-0.8812	9	0.59425	D	0.04	-15.0815	19.293	0.94110	0.0:0.0:1.0:0.0	.	188	P62341	SELT_HUMAN	H	130;188;130;130	.	ENSP00000418910:D188H	D	+	1	0	RP11-392O18.1	151827585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.068000	0.71201	2.561000	0.86390	0.555000	0.69702	GAT		PASS	0.383	SELT-005	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357629.1			38	186	38	186	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164905811	164905811	+	Silent	SNP	G	G	T	rs150831053		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:164905811G>T	ENST00000475390.1	-	2	3251	c.2808C>A	c.(2806-2808)ctC>ctA	p.L936L	SLITRK3_ENST00000241274.3_Silent_p.L936L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	936					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L936L(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						CAGCCGAGAAGAGAAGGGTTT	0.498										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2806-2808)CTC>CTA		slit and trk like 3 protein precursor							171.0	171.0	171.0					3																	164905811		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164905811G>T	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.2808C>A	3.37:g.164905811G>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.L936L	p.L936L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	3252	-			936			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2808C>A	CCDS3197.1																																																																																				PASS	0.498	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		42	286	42	286	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907492	164907492	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:164907492C>T	ENST00000475390.1	-	2	1570	c.1127G>A	c.(1126-1128)gGg>gAg	p.G376E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G376E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	376	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G376E(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						ACAGGTACACCCAGTGGGGCA	0.478										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1126-1128)GGG>GAG		slit and trk like 3 protein precursor							201.0	208.0	206.0					3																	164907492		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907492C>T	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.1127G>A	3.37:g.164907492C>T	ENSP00000420091:p.Gly376Glu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.G376E	p.G376E	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1571	-			376			LRRNT.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1127G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271186	0.59649	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.44881	0.91;0.91	5.99	5.99	0.97316	Leucine-rich repeat-containing N-terminal (1);	0.194874	0.25427	N	0.030758	T	0.56934	0.2019	L	0.43152	1.355	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.38001	-0.9681	10	0.10377	T	0.69	-15.9783	20.4756	0.99175	0.0:1.0:0.0:0.0	.	376	O94933	SLIK3_HUMAN	E	376	ENSP00000420091:G376E;ENSP00000241274:G376E	ENSP00000241274:G376E	G	-	2	0	SLITRK3	166390186	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.807000	0.62576	2.847000	0.97988	0.655000	0.94253	GGG		PASS	0.478	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		45	261	45	261	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167245649	167245649	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:167245649C>A	ENST00000308378.3	-	11	1812	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.V328L|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	503								p.V503L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACACCAGTCACACAAATACTG	0.403																																						uc003fev.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1507-1509)GTG>TTG		WD repeat domain 49							151.0	135.0	141.0					3																	167245649		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167245649C>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1507G>T	3.37:g.167245649C>A	ENSP00000311343:p.Val503Leu					WDR49_uc003feu.1_Missense_Mutation_p.V328L|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	p.V503L	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			11	1813	-			503			WD 8.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1507G>T	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	2.506	-0.314149	0.05422	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.36520	1.25;1.37	5.47	2.67	0.31697	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.262756	0.37669	N	0.001991	T	0.20941	0.0504	L	0.41710	1.295	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.12889	-1.0530	10	0.02654	T	1	.	5.4803	0.16719	0.0:0.5132:0.316:0.1708	.	503	Q8IV35	WDR49_HUMAN	L	503;328	ENSP00000311343:V503L;ENSP00000420508:V328L	ENSP00000311343:V503L	V	-	1	0	WDR49	168728343	1.000000	0.71417	0.990000	0.47175	0.324000	0.28378	1.273000	0.33121	0.673000	0.31224	0.544000	0.68410	GTG		PASS	0.403	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		13	77	13	77	---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189712013	189712013	+	Missense_Mutation	SNP	C	C	A	rs138997029		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:189712013C>A	ENST00000319332.5	-	3	890	c.693G>T	c.(691-693)agG>agT	p.R231S	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R50S	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	231					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.R231S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTTCGAAGTGCCTGATAGCCA	0.398																																						uc011bsk.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(691-693)AGG>AGT		leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						86.0	85.0	85.0					3																	189712013		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189712013C>A		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.693G>T	3.37:g.189712013C>A	ENSP00000316881:p.Arg231Ser					LEPREL1_uc003fsg.2_Missense_Mutation_p.R50S	p.R231S	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	3	1081	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		231			TPR 3.		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.693G>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	7.019	0.558247	0.13436	.	.	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.53857	2.27;2.27;2.27;0.6	5.96	5.09	0.68999	Tetratricopeptide-like helical (1);	0.425265	0.27673	N	0.018334	T	0.24198	0.0586	N	0.03608	-0.345	0.23243	N	0.998051	B	0.02656	0.0	B	0.01281	0.0	T	0.13415	-1.0510	9	.	.	.	-24.2455	5.625	0.17477	0.0:0.634:0.1466:0.2194	.	231	Q8IVL5	P3H2_HUMAN	S	231;50;50;50	ENSP00000316881:R231S;ENSP00000408947:R50S;ENSP00000391374:R50S;ENSP00000394326:R50S	.	R	-	3	2	LEPREL1	191194707	0.000000	0.05858	1.000000	0.80357	0.032000	0.12392	-0.174000	0.09839	1.521000	0.48983	0.655000	0.94253	AGG		PASS	0.398	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		23	103	23	103	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194177845	194177845	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:194177845T>C	ENST00000439040.1	-	7	1329	c.538A>G	c.(538-540)Aca>Gca	p.T180A	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T180A			Q9H7F0	AT133_HUMAN	ATPase type 13A3	180						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.T180A(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATCCCCTTTGTCAGTCCTGCA	0.328																																						uc003fty.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)ACA>GCA		ATPase type 13A3							121.0	119.0	120.0					3																	194177845		1844	4083	5927	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194177845T>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.538A>G	3.37:g.194177845T>C	ENSP00000416508:p.Thr180Ala						p.T180A	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	6	940	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	180					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.538A>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444192	0.43429	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.90504	-2.68;-2.68	5.35	3.98	0.46160	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.226336	0.44285	D	0.000466	D	0.85457	0.5701	L	0.50919	1.6	0.38617	D	0.951045	B	0.06786	0.001	B	0.15484	0.013	T	0.81899	-0.0721	10	0.39692	T	0.17	-19.7231	6.9387	0.24481	0.1363:0.0817:0.0:0.782	.	180	Q9H7F0	AT133_HUMAN	A	180	ENSP00000416508:T180A;ENSP00000256031:T180A	ENSP00000256031:T180A	T	-	1	0	ATP13A3	195659134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.088000	0.50175	2.041000	0.60428	0.533000	0.62120	ACA		PASS	0.328	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		23	117	23	117	---	---	---	---
BDH1	622	broad.mit.edu	37	3	197238966	197238966	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:197238966C>T	ENST00000392378.2	-	7	1142	c.832G>A	c.(832-834)Gat>Aat	p.D278N	BDH1_ENST00000358186.2_Missense_Mutation_p.D278N|BDH1_ENST00000441275.1_Missense_Mutation_p.D191N|BDH1_ENST00000392379.1_Missense_Mutation_p.D278N	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	278					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)	p.D278N(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		ATCTTTTCATCAAAGTACTTC	0.577																																						uc003fxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(832-834)GAT>AAT		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						174.0	146.0	155.0					3																	197238966		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238966C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.832G>A	3.37:g.197238966C>T	ENSP00000376183:p.Asp278Asn					BDH1_uc003fxs.2_Missense_Mutation_p.D278N|BDH1_uc003fxt.2_Missense_Mutation_p.D191N|BDH1_uc003fxu.2_Missense_Mutation_p.D278N	p.D278N	NM_203314	NP_976059	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1234	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	278					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.832G>A	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337838	0.81911	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.85	5.85	0.93711	NAD(P)-binding domain (1);	0.188558	0.56097	D	0.000034	D	0.92476	0.7611	L	0.59912	1.85	0.80722	D	1	B	0.26512	0.151	B	0.29524	0.103	D	0.89700	0.3904	10	0.62326	D	0.03	.	18.0364	0.89305	0.0:1.0:0.0:0.0	.	278	Q02338	BDH_HUMAN	N	278;278;278;191	ENSP00000376183:D278N;ENSP00000350914:D278N;ENSP00000376184:D278N;ENSP00000411014:D191N	ENSP00000350914:D278N	D	-	1	0	BDH1	198723363	1.000000	0.71417	0.697000	0.30258	0.770000	0.43624	6.078000	0.71282	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.577	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		14	134	14	134	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197428728	197428728	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr3:197428728C>G	ENST00000296343.5	-	6	577	c.578G>C	c.(577-579)aGa>aCa	p.R193T	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R193T|KIAA0226_ENST00000449205.1_Missense_Mutation_p.R193T|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R133T|KIAA0226_ENST00000467303.1_5'UTR	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	193					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.R133T(1)|p.R193T(1)|p.R26T(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCGTGCTTTCTGGCAAACTA	0.502																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(577-579)AGA>ACA		hypothetical protein LOC9711 isoform 2.							63.0	67.0	65.0					3																	197428728		1908	4126	6034	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197428728C>G	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.578G>C	3.37:g.197428728C>G	ENSP00000296343:p.Arg193Thr					KIAA0226_uc003fyd.3_Missense_Mutation_p.R133T|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Missense_Mutation_p.R26T|KIAA0226_uc003fyg.2_Missense_Mutation_p.R186T	p.R193T	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	6	761	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		193					Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.578G>C	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.216633|4.216633	0.79352|0.79352	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.134191	.|0.51477	.|D	.|0.000095	T|T	0.68979|0.68979	0.3060|0.3060	L|L	0.32530|0.32530	0.975|0.975	0.39455|0.39455	D|D	0.967479|0.967479	.|D;D;D;P	.|0.69078	.|0.997;0.997;0.991;0.938	.|P;D;P;P	.|0.79784	.|0.882;0.993;0.74;0.632	T|T	0.68368|0.68368	-0.5427|-0.5427	5|9	.|0.46703	.|T	.|0.11	.|.	20.206|20.206	0.98277|0.98277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|193;26;133;193	.|E9PEM3;Q5HYI6;Q92622-2;Q92622	.|.;.;.;RUBIC_HUMAN	H|T	171|133;193;193;193	.|.	.|ENSP00000273582:R133T	Q|R	-|-	3|2	2|0	KIAA0226|KIAA0226	198913125|198913125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	5.064000|5.064000	0.64338|0.64338	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	CAG|AGA		PASS	0.502	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		6	58	6	58	---	---	---	---
SLC2A9	56606	broad.mit.edu	37	4	9836629	9836629	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:9836629C>T	ENST00000264784.3	-	11	1348	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D	SLC2A9_ENST00000309065.3_Missense_Mutation_p.G403D|SLC2A9_ENST00000506583.1_Missense_Mutation_p.G403D	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	432					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.G403D(1)|p.G432D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GAACGGGATGCCACCTGCAGT	0.542																																						uc003gmc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1294-1296)GGC>GAC		solute carrier family 2, member 9 protein							84.0	74.0	77.0					4																	9836629		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9836629C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1295G>A	4.37:g.9836629C>T	ENSP00000264784:p.Gly432Asp					SLC2A9_uc003gmd.2_Missense_Mutation_p.G403D	p.G432D	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			11	1356	-			432			Helical; Name=10; (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.1295G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387024	0.61956	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;D;T	0.86230	-0.86;-2.09;-0.86	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94016	0.8083	M	0.87381	2.88	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.99	D	0.93841	0.7136	10	0.44086	T	0.13	.	16.6197	0.84927	0.0:1.0:0.0:0.0	.	403;432	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	D	403;432;403	ENSP00000422209:G403D;ENSP00000264784:G432D;ENSP00000311383:G403D	ENSP00000264784:G432D	G	-	2	0	SLC2A9	9445727	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	7.142000	0.77339	2.523000	0.85059	0.585000	0.79938	GGC		PASS	0.542	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			3	56	3	56	---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10447079	10447079	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:10447079G>T	ENST00000326756.3	-	3	1312	c.874C>A	c.(874-876)Cca>Aca	p.P292T		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	292					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P292T(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATTTTATTTGGAATACAAACT	0.373																																						uc003gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(874-876)CCA>ACA		zinc finger protein 518B							175.0	172.0	173.0					4																	10447079		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447079G>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.874C>A	4.37:g.10447079G>T	ENSP00000317614:p.Pro292Thr						p.P292T	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	1361	-			292					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.874C>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242330	0.79912	.	.	ENSG00000178163	ENST00000326756	T	0.01705	4.68	6.17	6.17	0.99709	.	0.306301	0.27922	N	0.017318	T	0.09423	0.0232	L	0.60455	1.87	0.29647	N	0.844287	D	0.76494	0.999	D	0.68765	0.96	T	0.00055	-1.2180	10	0.66056	D	0.02	-11.0493	19.8676	0.96824	0.0:0.0:1.0:0.0	.	292	Q9C0D4	Z518B_HUMAN	T	292	ENSP00000317614:P292T	ENSP00000317614:P292T	P	-	1	0	ZNF518B	10056177	0.996000	0.38824	0.452000	0.26994	0.964000	0.63967	3.876000	0.56115	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.373	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		53	282	53	282	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20619273	20619274	+	Splice_Site	DNP	GG	GG	TT			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:20619273_20619274GG>TT	ENST00000504154.1	+	36	4600	c.4348_4348GG>TT	c.(4348-4350)GGga>TTgga	p.G1450L	SLIT2_ENST00000503823.1_Splice_Site_p.G1442L|SLIT2_ENST00000273739.5_Splice_Site_p.G1463L|SLIT2_ENST00000503837.1_Splice_Site_p.G1446L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1450					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.?(2)|p.E1450*(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGTGATCGAGGTAAGCCAGCC	0.51																																						uc003gpr.1																			3	Unknown(2)|Substitution - Nonsense(1)		lung(3)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4348-4350)GAA>TAA|c.e36+1		slit homolog 2 precursor																																				SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20619273G>T|g.chr4:20619274G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	Exception_encountered	4.37:g.20619273_20619274delinsTT						SLIT2_uc003gps.1_Nonsense_Mutation_p.E1442*|SLIT2_uc003gps.1_Splice_Site_p.E1442_splice	p.E1450*|p.E1450_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN			36	4552	+			1450|					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Nonsense_Mutation|Splice_Site	SNP	ENST00000504154.1	37	c.4348G>T|c.4348_splice	CCDS3426.1																																																																																				PASS	0.510	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Missense_Mutation	5	20	5	20	---	---	---	---
KLB	152831	broad.mit.edu	37	4	39436170	39436170	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:39436170G>C	ENST00000257408.4	+	2	1263	c.1166G>C	c.(1165-1167)gGa>gCa	p.G389A		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	389	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.G389A(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCTAAAATGGGACAAAATGTT	0.423																																						uc003gua.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1165-1167)GGA>GCA		klotho beta							108.0	108.0	108.0					4																	39436170		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436170G>C	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1166G>C	4.37:g.39436170G>C	ENSP00000257408:p.Gly389Ala					KLB_uc011byj.1_Missense_Mutation_p.G389A	p.G389A	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			2	1263	+			389			Extracellular (Potential).|Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1166G>C	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516721	0.64634	.	.	ENSG00000134962	ENST00000257408	T	0.38722	1.12	6.06	6.06	0.98353	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56189	-0.8020	10	0.17369	T	0.5	-21.959	18.8088	0.92050	0.0:0.0:1.0:0.0	.	389;389	B7ZL50;Q86Z14	.;KLOTB_HUMAN	A	389	ENSP00000257408:G389A	ENSP00000257408:G389A	G	+	2	0	KLB	39112565	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.639000	0.83342	2.871000	0.98454	0.655000	0.94253	GGA		PASS	0.423	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		34	148	34	148	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48575205	48575205	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:48575205C>G	ENST00000503238.1	-	23	2901	c.2902G>C	c.(2902-2904)Gag>Cag	p.E968Q	FRYL_ENST00000537810.1_Missense_Mutation_p.E968Q|FRYL_ENST00000358350.4_Missense_Mutation_p.E968Q|FRYL_ENST00000507711.1_Missense_Mutation_p.E968Q|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	968					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.E968Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGCTCACCTCTGGCCTTCTT	0.343																																						uc003gyh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2902-2904)GAG>CAG		furry-like							109.0	111.0	110.0					4																	48575205		1885	4111	5996	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48575205C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2902G>C	4.37:g.48575205C>G	ENSP00000426064:p.Glu968Gln					FRYL_uc003gyk.2_Missense_Mutation_p.E968Q	p.E968Q	NM_015030	NP_055845	O94915	FRYL_HUMAN			26	3507	-			968					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2902G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991918	0.93106	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.8	5.8	0.92144	Armadillo-type fold (1);	0.066983	0.64402	U	0.000018	T	0.24736	0.0600	M	0.80422	2.495	0.80722	D	1	D;D	0.62365	0.991;0.99	D;P	0.74023	0.982;0.889	T	0.00159	-1.1974	10	0.37606	T	0.19	.	20.0593	0.97671	0.0:1.0:0.0:0.0	.	968;968	F2Z2S2;O94915	.;FRYL_HUMAN	Q	968	ENSP00000426064:E968Q;ENSP00000351113:E968Q;ENSP00000441114:E968Q;ENSP00000421584:E968Q	ENSP00000351113:E968Q	E	-	1	0	FRYL	48269962	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.406000	0.80017	2.737000	0.93849	0.655000	0.94253	GAG		PASS	0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			5	95	5	95	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56846395	56846395	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:56846395A>T	ENST00000257287.4	+	12	1684	c.1560A>T	c.(1558-1560)gaA>gaT	p.E520D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	520					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E520D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AATATATGGAAGATATACAGT	0.284																																						uc003hbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1558-1560)GAA>GAT		centrosome protein 4							71.0	75.0	74.0					4																	56846395		2202	4296	6498	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56846395A>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1560A>T	4.37:g.56846395A>T	ENSP00000257287:p.Glu520Asp					CEP135_uc003hbj.2_Missense_Mutation_p.E226D	p.E520D	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			12	1794	+	Glioma(25;0.08)|all_neural(26;0.101)		520			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1560A>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.578904	0.28180	.	.	ENSG00000174799	ENST00000257287	T	0.48836	0.8	5.87	-1.79	0.07932	.	0.384564	0.31636	N	0.007314	T	0.32285	0.0824	L	0.50333	1.59	0.29121	N	0.880272	B	0.13145	0.007	B	0.09377	0.004	T	0.29518	-1.0009	10	0.15952	T	0.53	.	7.2317	0.26046	0.5457:0.0:0.27:0.1842	.	520	Q66GS9	CP135_HUMAN	D	520	ENSP00000257287:E520D	ENSP00000257287:E520D	E	+	3	2	CEP135	56541152	0.989000	0.36119	0.904000	0.35570	0.941000	0.58515	0.060000	0.14342	-0.831000	0.04256	-0.836000	0.03065	GAA		PASS	0.284	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		35	104	35	104	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57180260	57180260	+	Missense_Mutation	SNP	G	G	C	rs568249444		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:57180260G>C	ENST00000504228.1	+	6	697	c.592G>C	c.(592-594)Gga>Cga	p.G198R	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G198R|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G191R			Q6ZU35	K1211_HUMAN	KIAA1211	198								p.G198R(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGACCAGAACGGACACCCAGG	0.542																																						uc003hbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(592-594)GGA>CGA		hypothetical protein LOC57482							52.0	63.0	59.0					4																	57180260		2045	4198	6243	SO:0001583	missense	57482							g.chr4:57180260G>C	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.592G>C	4.37:g.57180260G>C	ENSP00000423366:p.Gly198Arg					KIAA1211_uc010iha.2_Missense_Mutation_p.G191R|KIAA1211_uc011bzz.1_Missense_Mutation_p.G108R|KIAA1211_uc003hbm.1_Missense_Mutation_p.G84R	p.G198R	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	983	+	Glioma(25;0.08)|all_neural(26;0.101)		198					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.592G>C	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398688	0.42512	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.17370	2.31;2.31;2.28	5.07	5.07	0.68467	.	.	.	.	.	T	0.41627	0.1167	M	0.65975	2.015	0.49130	D	0.999754	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.26643	-1.0097	9	0.72032	D	0.01	-30.6037	16.5821	0.84717	0.0:0.0:1.0:0.0	.	191;191;198	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	R	198;198;191;108	ENSP00000264229:G198R;ENSP00000423366:G198R;ENSP00000444006:G191R	ENSP00000264229:G198R	G	+	1	0	KIAA1211	56875017	0.929000	0.31497	0.585000	0.28666	0.098000	0.18820	1.949000	0.40313	2.513000	0.84729	0.561000	0.74099	GGA		PASS	0.542	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		8	47	8	47	---	---	---	---
AGPAT9	84803	broad.mit.edu	37	4	84519333	84519333	+	Splice_Site	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:84519333G>C	ENST00000395226.2	+	11	1343		c.e11+1		AGPAT9_ENST00000264409.4_Splice_Site	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9						CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GACCAGAGAGGTATTCCTTAG	0.473																																						uc003how.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e11+1		1-acylglycerol-3-phosphate O-acyltransferase 9							92.0	84.0	87.0					4																	84519333		2203	4300	6503	SO:0001630	splice_region_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84519333G>C	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1125+1G>C	4.37:g.84519333G>C						AGPAT9_uc003hox.2_Splice_Site_p.E375_splice|AGPAT9_uc003hoy.2_Splice_Site_p.E375_splice	p.E375_splice	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN			11	1343	+		Hepatocellular(203;0.114)						Q68CJ4|Q6GPI6|Q96NA3	Splice_Site	SNP	ENST00000395226.2	37	c.1125_splice	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135025	0.77662	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6718	0.95914	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGPAT9	84738357	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	9.835000	0.99442	2.639000	0.89480	0.557000	0.71058	.		PASS	0.473	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717	Intron	16	84	16	84	---	---	---	---
NPY1R	4886	broad.mit.edu	37	4	164247564	164247564	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:164247564C>A	ENST00000296533.2	-	2	674	c.143G>T	c.(142-144)gGa>gTa	p.G48V	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	48					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.G48V(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATCACAGCTCCATAAGCAAG	0.408																																						uc003iqm.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(142-144)GGA>GTA		neuropeptide Y receptor Y1							123.0	113.0	116.0					4																	164247564		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247564C>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.143G>T	4.37:g.164247564C>A	ENSP00000354652:p.Gly48Val					NPY1R_uc011cjj.1_Intron	p.G48V	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	409	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	48			Helical; Name=1; (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.143G>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095377	0.56075	.	.	ENSG00000164128	ENST00000296533;ENST00000504790;ENST00000515701	T	0.36699	1.24	5.65	5.65	0.86999	.	0.068037	0.64402	D	0.000014	T	0.25232	0.0613	N	0.24115	0.695	0.80722	D	1	P	0.36222	0.544	B	0.27887	0.084	T	0.03706	-1.1011	10	0.22109	T	0.4	.	19.73	0.96179	0.0:1.0:0.0:0.0	.	48	P25929	NPY1R_HUMAN	V	48	ENSP00000354652:G48V	ENSP00000354652:G48V	G	-	2	0	NPY1R	164467014	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.584000	0.82572	2.664000	0.90586	0.650000	0.86243	GGA		PASS	0.408	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			28	118	28	118	---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186379310	186379310	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:186379310G>C	ENST00000307588.3	-	6	2506	c.2431C>G	c.(2431-2433)Cag>Gag	p.Q811E	CCDC110_ENST00000510617.1_Missense_Mutation_p.Q811E|CCDC110_ENST00000393540.3_Missense_Mutation_p.Q774E|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	811						nucleus (GO:0005634)		p.Q811E(1)		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)		GGCCTACTCTGAGGACTAGAA	0.373																																						uc003ixu.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2431-2433)CAG>GAG		coiled-coil domain containing 110 isoform a							67.0	65.0	65.0					4																	186379310		2203	4300	6503	SO:0001583	missense	256309					nucleus		g.chr4:186379310G>C	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.2431C>G	4.37:g.186379310G>C	ENSP00000306776:p.Gln811Glu					CCDC110_uc003ixv.3_Missense_Mutation_p.Q774E|CCDC110_uc011ckt.1_Missense_Mutation_p.Q811E	p.Q811E	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	2507	-		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)	811					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.2431C>G	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	0.216	-1.032220	0.02029	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.06449	3.3;3.3;3.3	5.54	0.304	0.15796	.	0.357757	0.24245	N	0.040232	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39840	-0.9594	10	0.48119	T	0.1	-2.0072	6.3601	0.21422	0.0:0.1543:0.4101:0.4356	.	811;774;811	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	E	774;811;811	ENSP00000377172:Q774E;ENSP00000306776:Q811E;ENSP00000427246:Q811E	ENSP00000306776:Q811E	Q	-	1	0	CCDC110	186616304	0.000000	0.05858	0.004000	0.12327	0.046000	0.14306	-0.648000	0.05391	0.123000	0.18342	-0.271000	0.10264	CAG		PASS	0.373	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		15	73	15	73	---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186380438	186380438	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr4:186380438G>T	ENST00000307588.3	-	6	1378	c.1303C>A	c.(1303-1305)Cta>Ata	p.L435I	CCDC110_ENST00000510617.1_Missense_Mutation_p.L435I|CCDC110_ENST00000393540.3_Missense_Mutation_p.L398I|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	435						nucleus (GO:0005634)		p.L435I(1)		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)		GATTCTTTTAGGTAATTCTGT	0.323																																						uc003ixu.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1303-1305)CTA>ATA		coiled-coil domain containing 110 isoform a							92.0	96.0	94.0					4																	186380438		2203	4297	6500	SO:0001583	missense	256309					nucleus		g.chr4:186380438G>T	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.1303C>A	4.37:g.186380438G>T	ENSP00000306776:p.Leu435Ile					CCDC110_uc003ixv.3_Missense_Mutation_p.L398I|CCDC110_uc011ckt.1_Missense_Mutation_p.L435I	p.L435I	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	1379	-		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)	435			Potential.		Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1303C>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913338	0.52439	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.12039	2.72;2.73;2.73	5.81	4.09	0.47781	.	0.000000	0.45606	D	0.000353	T	0.30135	0.0755	M	0.66939	2.045	0.23221	N	0.998092	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.07233	-1.0783	10	0.39692	T	0.17	-9.0474	7.2516	0.26152	0.151:0.1391:0.7099:0.0	.	435;398;435	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	I	398;435;435	ENSP00000377172:L398I;ENSP00000306776:L435I;ENSP00000427246:L435I	ENSP00000306776:L435I	L	-	1	2	CCDC110	186617432	0.816000	0.29132	0.982000	0.44146	0.955000	0.61496	0.592000	0.23984	0.813000	0.34350	0.655000	0.94253	CTA		PASS	0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		38	220	38	220	---	---	---	---
CMBL	134147	broad.mit.edu	37	5	10286599	10286599	+	Silent	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:10286599A>G	ENST00000296658.3	-	4	753	c.333T>C	c.(331-333)agT>agC	p.S111S	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	111						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.S111S(1)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TCAAGATAGCACTGATCTCTC	0.413																																						uc003jes.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(331-333)AGT>AGC		carboxymethylenebutenolidase							61.0	54.0	56.0					5																	10286599		2203	4300	6503	SO:0001819	synonymous_variant	134147					cytosol	hydrolase activity|protein binding	g.chr5:10286599A>G		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.333T>C	5.37:g.10286599A>G							p.S111S	NM_138809	NP_620164	Q96DG6	CMBL_HUMAN			4	784	-			111					D3DTC7|Q8TED6	Silent	SNP	ENST00000296658.3	37	c.333T>C	CCDS3878.1																																																																																				PASS	0.413	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		13	73	13	73	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10417441	10417441	+	Silent	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:10417441G>C	ENST00000274140.5	+	22	2340	c.2208G>C	c.(2206-2208)ggG>ggC	p.G736G	MARCH6_ENST00000503788.1_Silent_p.G631G|MARCH6_ENST00000449913.2_Silent_p.G688G|MARCH6_ENST00000510792.1_Silent_p.G434G	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	736					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G736G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCCTTCTGGGGCTCCTGTTTG	0.468																																						uc003jet.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(2206-2208)GGG>GGC		membrane-associated ring finger (C3HC4) 6							225.0	220.0	221.0					5																	10417441		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10417441G>C	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2208G>C	5.37:g.10417441G>C						MARCH6_uc011cmu.1_Silent_p.G688G|MARCH6_uc003jeu.1_Silent_p.G434G|MARCH6_uc011cmv.1_Silent_p.G631G	p.G736G	NM_005885	NP_005876	O60337	MARH6_HUMAN			22	2391	+			736			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.2208G>C	CCDS34135.1																																																																																				PASS	0.468	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		11	444	11	444	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13766220	13766220	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:13766220G>C	ENST00000265104.4	-	59	10070	c.9966C>G	c.(9964-9966)atC>atG	p.I3322M	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3322	Stalk. {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.I3322M(1)		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)					CGCAATCCATGATCCGCATGA	0.527									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9964-9966)ATC>ATG		dynein, axonemal, heavy chain 5							112.0	110.0	111.0					5																	13766220		2203	4300	6503	SO:0001583	missense	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.chr5:13766220G>C	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.9966C>G	5.37:g.13766220G>C	ENSP00000265104:p.Ile3322Met					DNAH5_uc003jfc.2_Translation_Start_Site	p.I3322M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			59	10008	-	Lung NSC(4;0.00476)		3322			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9966C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379357	0.61845	.	.	ENSG00000039139	ENST00000265104	T	0.75704	-0.96	5.63	2.67	0.31697	Dynein heavy chain, coiled coil stalk (1);	0.159420	0.53938	D	0.000045	D	0.86744	0.6006	H	0.95679	3.705	0.53688	D	0.999975	D	0.63880	0.993	D	0.72982	0.979	D	0.83894	0.0286	10	0.87932	D	0	.	3.2409	0.06780	0.1286:0.1206:0.5022:0.2486	.	3322	Q8TE73	DYH5_HUMAN	M	3322	ENSP00000265104:I3322M	ENSP00000265104:I3322M	I	-	3	3	DNAH5	13819220	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.828000	0.48120	0.686000	0.31488	-0.311000	0.09066	ATC		PASS	0.527	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		76	172	76	172	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13922215	13922215	+	Splice_Site	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:13922215C>T	ENST00000265104.4	-	5	765		c.e5+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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.?(1)		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)					TTCGTCCTCACCTTCTCCTTC	0.478									Kartagener syndrome																													uc003jfd.2																			1	Unknown(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.e5+1		dynein, axonemal, heavy chain 5							75.0	71.0	72.0					5																	13922215		2203	4300	6503	SO:0001630	splice_region_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.chr5:13922215C>T	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.660+1G>A	5.37:g.13922215C>T						DNAH5_uc003jfe.1_Splice_Site	p.K220_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			5	702	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.660_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726585	0.48833	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2454	0.93901	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13975215	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	7.290000	0.78711	2.551000	0.86045	0.561000	0.74099	.		PASS	0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	8	81	8	81	---	---	---	---
C5orf22	55322	broad.mit.edu	37	5	31534424	31534424	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:31534424G>A	ENST00000325366.9	+	2	254	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	DROSHA_ENST00000511367.2_5'Flank|C5orf22_ENST00000355907.3_5'UTR|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_5'Flank	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	43								p.A43T(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						GCATCTTCCTGCCAGTAATGT	0.423																																						uc003jhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(127-129)GCC>ACC		hypothetical protein LOC55322							167.0	152.0	157.0					5																	31534424		2203	4300	6503	SO:0001583	missense	55322							g.chr5:31534424G>A	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.127G>A	5.37:g.31534424G>A	ENSP00000326879:p.Ala43Thr					RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	p.A43T	NM_018356	NP_060826	Q49AR2	CE022_HUMAN			2	254	+			43					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	c.127G>A	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083262	0.55861	.	.	ENSG00000082213	ENST00000325366;ENST00000507818	T	0.30981	1.51	5.41	4.54	0.55810	.	0.451833	0.25741	N	0.028613	T	0.29158	0.0725	L	0.57536	1.79	0.80722	D	1	P	0.43231	0.801	B	0.37780	0.258	T	0.05115	-1.0905	10	0.22706	T	0.39	-5.1839	14.0441	0.64695	0.0731:0.0:0.9269:0.0	.	43	Q49AR2	CE022_HUMAN	T	43	ENSP00000326879:A43T	ENSP00000326879:A43T	A	+	1	0	C5orf22	31570181	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.147000	0.42226	1.265000	0.44215	0.655000	0.94253	GCC		PASS	0.423	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		14	224	14	224	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33938115	33938115	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:33938115C>A	ENST00000330120.3	+	1	1625	c.1270C>A	c.(1270-1272)Ccg>Acg	p.P424T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	424					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.P424T(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CACTACCAAGCCGGAGCACGA	0.706																																						uc003jic.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1270-1272)CCG>ACG		relaxin/insulin-like family peptide receptor 3							19.0	23.0	21.0					5																	33938115		2176	4263	6439	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33938115C>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1270C>A	5.37:g.33938115C>A	ENSP00000328708:p.Pro424Thr						p.P424T	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	1627	+			424			Cytoplasmic (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.1270C>A	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604828	0.66445	.	.	ENSG00000182631	ENST00000330120	T	0.70045	-0.45	5.64	5.64	0.86602	.	0.149040	0.42682	D	0.000671	T	0.55162	0.1903	L	0.27053	0.805	0.58432	D	0.999996	B	0.26744	0.158	B	0.17433	0.018	T	0.49495	-0.8934	10	0.22706	T	0.39	-11.443	19.6996	0.96048	0.0:1.0:0.0:0.0	.	424	Q9NSD7	RL3R1_HUMAN	T	424	ENSP00000328708:P424T	ENSP00000328708:P424T	P	+	1	0	RXFP3	33973872	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	4.683000	0.61679	2.646000	0.89796	0.655000	0.94253	CCG		PASS	0.706	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		10	24	10	24	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35084623	35084623	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:35084623G>T	ENST00000382002.5	-	5	748	c.322C>A	c.(322-324)Cag>Aag	p.Q108K	PRLR_ENST00000513753.1_Missense_Mutation_p.Q108K|PRLR_ENST00000348262.3_Missense_Mutation_p.Q108K|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000542609.1_Missense_Mutation_p.Q108K|PRLR_ENST00000397391.3_Missense_Mutation_p.Q37K|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.Q108K|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.Q108K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	108	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.Q108K(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CTTCCCATCTGGTTAGTGGCA	0.468																																						uc003jjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(322-324)CAG>AAG		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						255.0	235.0	242.0					5																	35084623		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35084623G>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.322C>A	5.37:g.35084623G>T	ENSP00000371432:p.Gln108Lys					PRLR_uc003jjg.1_Missense_Mutation_p.Q108K|PRLR_uc003jjh.1_Missense_Mutation_p.Q108K|PRLR_uc003jji.1_Missense_Mutation_p.Q37K|PRLR_uc003jjj.1_Missense_Mutation_p.Q108K|PRLR_uc003jjk.1_Missense_Mutation_p.Q37K|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_Missense_Mutation_p.Q37K	p.Q108K	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		5	852	-	all_lung(31;3.83e-05)		108			Fibronectin type-III 1.|Extracellular (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.322C>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	9.848	1.192964	0.21954	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839	T;T;T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.68	-0.977	0.10282	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.592332	0.17545	N	0.170370	T	0.52141	0.1716	M	0.69358	2.11	0.80722	D	1	B;B;B;B;B;B	0.12630	0.001;0.002;0.004;0.006;0.0;0.001	B;B;B;B;B;B	0.11329	0.002;0.006;0.006;0.005;0.001;0.002	T	0.42766	-0.9432	10	0.42905	T	0.14	-0.3367	11.9984	0.53216	0.0:0.4906:0.21:0.2994	.	108;108;37;108;108;108	P16471-3;P16471;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.	K	108;108;108;37;108;108;108;108;108	ENSP00000231423:Q108K;ENSP00000424841:Q108K;ENSP00000311613:Q108K;ENSP00000380546:Q37K;ENSP00000441813:Q108K;ENSP00000371432:Q108K;ENSP00000309008:Q108K;ENSP00000423493:Q108K;ENSP00000427060:Q108K	ENSP00000231423:Q108K	Q	-	1	0	PRLR	35120380	0.000000	0.05858	0.792000	0.32020	0.356000	0.29392	-0.983000	0.03759	-0.540000	0.06265	-0.150000	0.13652	CAG		PASS	0.468	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			163	345	163	345	---	---	---	---
C6	729	broad.mit.edu	37	5	41155154	41155154	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:41155154G>T	ENST00000263413.3	-	14	2285	c.2021C>A	c.(2020-2022)aCt>aAt	p.T674N	C6_ENST00000337836.5_Missense_Mutation_p.T674N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	674	C5b-binding domain.|CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T674I(1)|p.T674N(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCAAAGCCAGTAAGGCATGA	0.398																																						uc003jmk.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2020-2022)ACT>AAT		complement component 6 precursor							141.0	131.0	134.0					5																	41155154		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41155154G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2021C>A	5.37:g.41155154G>T	ENSP00000263413:p.Thr674Asn					C6_uc003jml.1_Missense_Mutation_p.T674N	p.T674N	NM_000065	NP_000056	P13671	CO6_HUMAN			14	2231	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	674			Sushi 1.|C5b-binding domain.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2021C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928354	0.34002	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.64803	-0.12;-0.12	5.82	4.78	0.61160	Complement control module (2);Sushi/SCR/CCP (3);	0.220271	0.46145	D	0.000315	T	0.56381	0.1981	L	0.57536	1.79	0.34830	D	0.739604	P	0.35192	0.489	B	0.37731	0.257	T	0.66767	-0.5840	10	0.46703	T	0.11	-10.2449	7.2105	0.25931	0.0788:0.1332:0.6656:0.1224	.	674	P13671	CO6_HUMAN	N	674	ENSP00000338861:T674N;ENSP00000263413:T674N	ENSP00000263413:T674N	T	-	2	0	C6	41190911	1.000000	0.71417	0.983000	0.44433	0.351000	0.29236	3.183000	0.50918	2.765000	0.95021	0.650000	0.86243	ACT		PASS	0.398	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			24	174	24	174	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41382263	41382263	+	Silent	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:41382263G>C	ENST00000377801.3	-	2	551	c.477C>G	c.(475-477)gtC>gtG	p.V159V	PLCXD3_ENST00000328457.3_Silent_p.V159V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	159	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.V159V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCAGCATTTGGACCAGTTTTT	0.418																																						uc003jmm.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(475-477)GTC>GTG		phosphatidylinositol-specific phospholipase C, X							111.0	112.0	111.0					5																	41382263		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382263G>C		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.477C>G	5.37:g.41382263G>C							p.V159V	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	579	-			159			PI-PLC X-box.		A6NL04	Silent	SNP	ENST00000377801.3	37	c.477C>G	CCDS34150.1																																																																																				PASS	0.418	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		45	348	45	348	---	---	---	---
GHR	2690	broad.mit.edu	37	5	42718770	42718770	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:42718770C>T	ENST00000230882.4	+	10	1351	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Silent_p.T200T|GHR_ENST00000357703.3_Silent_p.T365T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	387					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.T387T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTGGACGTACCAGCTGTTGTG	0.468																																						uc003jmt.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|kidney(1)|skin(1)	6						c.(1159-1161)ACC>ACT		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						152.0	117.0	129.0					5																	42718770		2203	4300	6503	SO:0001819	synonymous_variant	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718770C>T		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1161C>T	5.37:g.42718770C>T						GHR_uc011cpq.1_Silent_p.T200T	p.T387T	NM_000163	NP_000154	P10912	GHR_HUMAN			10	1204	+		Myeloproliferative disorder(839;0.00878)	387			Cytoplasmic (Potential).		Q9HCX2	Silent	SNP	ENST00000230882.4	37	c.1161C>T	CCDS3940.1																																																																																				PASS	0.468	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		45	246	45	246	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45462025	45462025	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:45462025C>T	ENST00000303230.4	-	3	991	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	312					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.D312N(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGACAACCATCCCAGTGGCAC	0.413																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(934-936)GAT>AAT		hyperpolarization activated cyclic							79.0	78.0	78.0					5																	45462025		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462025C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.934G>A	5.37:g.45462025C>T	ENSP00000307342:p.Asp312Asn						p.D312N	NM_021072	NP_066550	O60741	HCN1_HUMAN			3	959	-			312			Helical; Name=Segment S5; (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.934G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777455	0.70107	.	.	ENSG00000164588	ENST00000303230	D	0.98400	-4.91	5.73	5.73	0.89815	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.96009	0.8700	L	0.27944	0.81	0.80722	D	1	B	0.20887	0.049	B	0.24701	0.055	D	0.92647	0.6129	10	0.33141	T	0.24	.	19.8983	0.96975	0.0:1.0:0.0:0.0	.	312	O60741	HCN1_HUMAN	N	312	ENSP00000307342:D312N	ENSP00000307342:D312N	D	-	1	0	HCN1	45497782	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.809000	0.86057	2.718000	0.92993	0.650000	0.86243	GAT		PASS	0.413	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		5	84	5	84	---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54706356	54706356	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:54706356G>C	ENST00000230640.5	+	23	2904	c.2650G>C	c.(2650-2652)Gat>Cat	p.D884H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D783H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	884					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.D884H(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTGTAGTGCTGATGAGCTCCT	0.343																																					Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2650-2652)GAT>CAT		superkiller viralicidic activity 2-like 2							167.0	150.0	156.0					5																	54706356		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54706356G>C	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2650G>C	5.37:g.54706356G>C	ENSP00000230640:p.Asp884His					SKIV2L2_uc011cqi.1_Missense_Mutation_p.D783H	p.D884H	NM_015360	NP_056175	P42285	SK2L2_HUMAN			23	2916	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	884					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.2650G>C	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572218	0.86542	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.24151	1.87;1.87	5.1	5.1	0.69264	DSH, C-terminal (1);	0.104732	0.64402	D	0.000006	T	0.55097	0.1899	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.57711	-0.7764	10	0.49607	T	0.09	-31.382	18.8764	0.92338	0.0:0.0:1.0:0.0	.	783;884	F5H7E2;P42285	.;SK2L2_HUMAN	H	884;783	ENSP00000230640:D884H;ENSP00000442583:D783H	ENSP00000230640:D884H	D	+	1	0	SKIV2L2	54742113	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.275000	0.95738	2.532000	0.85374	0.591000	0.81541	GAT		PASS	0.343	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			32	131	32	131	---	---	---	---
RAB3C	115827	broad.mit.edu	37	5	57913583	57913583	+	Silent	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:57913583T>C	ENST00000282878.4	+	2	307	c.138T>C	c.(136-138)ttT>ttC	p.F46F		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	46					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.F46F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AAACATCTTTTCTATTCCGTT	0.393																																						uc003jrp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(136-138)TTT>TTC		RAB3C, member RAS oncogene family							91.0	83.0	86.0					5																	57913583		2203	4300	6503	SO:0001819	synonymous_variant	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:57913583T>C	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.138T>C	5.37:g.57913583T>C							p.F46F	NM_138453	NP_612462	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	2	235	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	46						Silent	SNP	ENST00000282878.4	37	c.138T>C	CCDS3976.1																																																																																				PASS	0.393	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		23	65	23	65	---	---	---	---
WDR41	55255	broad.mit.edu	37	5	76732210	76732210	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:76732210T>C	ENST00000296679.4	-	12	1478	c.1103A>G	c.(1102-1104)aAc>aGc	p.N368S	WDR41_ENST00000507029.1_Missense_Mutation_p.N313S|WDR41_ENST00000414719.2_Missense_Mutation_p.N114S|WDR41_ENST00000512033.1_5'Flank	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	368						lysosomal membrane (GO:0005765)		p.N368S(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCCCCACATGTTAAAAAAACC	0.353																																						uc003kff.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)AAC>AGC		WD repeat domain 41							107.0	100.0	102.0					5																	76732210		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76732210T>C	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.1103A>G	5.37:g.76732210T>C	ENSP00000296679:p.Asn368Ser					WDR41_uc011csy.1_Missense_Mutation_p.N310S|WDR41_uc011csz.1_Missense_Mutation_p.N313S	p.N368S	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	12	1390	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	368					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.1103A>G	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040175	0.35989	.	.	ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654	T;T;T;T;T	0.47528	0.84;1.58;0.84;2.1;1.46	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.104997	0.64402	D	0.000002	T	0.28962	0.0719	N	0.19112	0.55	0.32866	D	0.508616	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.12156	0.007;0.007;0.007	T	0.35549	-0.9784	10	0.15066	T	0.55	-20.7384	8.3319	0.32191	0.0:0.1474:0.0:0.8526	.	313;114;368	B4DT55;B4E2L4;Q9HAD4	.;.;WDR41_HUMAN	S	368;114;303;313;139	ENSP00000296679:N368S;ENSP00000392931:N114S;ENSP00000426499:N303S;ENSP00000424287:N313S;ENSP00000427291:N139S	ENSP00000296679:N368S	N	-	2	0	WDR41	76767966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.711000	0.37930	2.143000	0.66587	0.460000	0.39030	AAC		PASS	0.353	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		15	98	15	98	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101816026	101816026	+	Silent	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:101816026C>A	ENST00000506729.1	-	2	642	c.471G>T	c.(469-471)ctG>ctT	p.L157L	SLCO6A1_ENST00000513675.1_Silent_p.L157L|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Silent_p.L157L|SLCO6A1_ENST00000379807.3_Silent_p.L157L|SLCO6A1_ENST00000389019.3_Silent_p.L157L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L157L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATATTGCTACCAGGCCAGATG	0.353																																						uc003knn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(469-471)CTG>CTT		solute carrier organic anion transporter family,							124.0	126.0	125.0					5																	101816026		2202	4300	6502	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101816026C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.471G>T	5.37:g.101816026C>A						SLCO6A1_uc003kno.2_Silent_p.L157L|SLCO6A1_uc003knp.2_Silent_p.L157L|SLCO6A1_uc003knq.2_Silent_p.L157L	p.L157L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	2	643	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	157			Helical; Name=2; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.471G>T	CCDS34206.1																																																																																				PASS	0.353	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		23	129	23	129	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121187661	121187661	+	Start_Codon_SNP	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:121187661G>A	ENST00000321339.1	+	1	12	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	1					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.M1I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCGGCGCTATGCTGTCCTGCT	0.687																																						uc003kss.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>ATA		ferritin mitochondrial precursor							32.0	37.0	35.0					5																	121187661		2201	4298	6499	SO:0001582	initiator_codon_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187661G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.3G>A	5.37:g.121187661G>A	ENSP00000313691:p.Met1Ile						p.M1I	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	12	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	1						Missense_Mutation	SNP	ENST00000321339.1	37	c.3G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025202	0.54683	.	.	ENSG00000181867	ENST00000321339	T	0.64803	-0.12	3.1	3.1	0.35709	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	D	0.53885	0.963	P	0.44359	0.447	T	0.63839	-0.6546	8	0.72032	D	0.01	.	9.9177	0.41446	0.0:0.0:1.0:0.0	.	1	Q8N4E7	FTMT_HUMAN	I	1	ENSP00000313691:M1I	ENSP00000313691:M1I	M	+	3	0	FTMT	121215560	1.000000	0.71417	0.999000	0.59377	0.271000	0.26615	2.395000	0.44459	2.007000	0.58848	0.650000	0.86243	ATG		PASS	0.687	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	Missense_Mutation	10	65	10	65	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140166707	140166707	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:140166707G>A	ENST00000504120.2	+	1	832	c.832G>A	c.(832-834)Gtc>Atc	p.V278I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V278I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V278I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V278I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGAAGTCGTCTTTTCCTT	0.388																																						uc003lhb.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(832-834)GTC>ATC		protocadherin alpha 1 isoform 1 precursor							142.0	137.0	139.0					5																	140166707		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166707G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.832G>A	5.37:g.140166707G>A	ENSP00000420840:p.Val278Ile					PCDHA1_uc003lha.2_Missense_Mutation_p.V278I|PCDHA1_uc003lgz.2_Missense_Mutation_p.V278I	p.V278I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	832	+			278			Cadherin 3.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.832G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	0.852	-0.738308	0.03111	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01767	4.65;4.65;4.65	4.06	-2.56	0.06268	Cadherin (4);Cadherin-like (1);	0.674491	0.12181	U	0.492090	T	0.01421	0.0046	L	0.28649	0.875	0.09310	N	1	B;B;B	0.24483	0.018;0.104;0.026	B;B;B	0.23275	0.045;0.012;0.003	T	0.46005	-0.9222	10	0.27785	T	0.31	.	6.8517	0.24018	0.5589:0.1292:0.3118:0.0	.	278;278;278	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	278	ENSP00000420840:V278I;ENSP00000378129:V278I;ENSP00000367373:V278I	ENSP00000367373:V278I	V	+	1	0	PCDHA1	140146891	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-1.359000	0.02602	-0.226000	0.09899	0.555000	0.69702	GTC		PASS	0.388	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		21	144	21	144	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140589822	140589822	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:140589822C>A	ENST00000239450.2	+	1	1532	c.1343C>A	c.(1342-1344)gCc>gAc	p.A448D	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A111D	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A448D(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACAACGCCCCCGCCTTC	0.607																																						uc003liz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1342-1344)GCC>GAC		protocadherin beta 12 precursor							106.0	101.0	103.0					5																	140589822		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589822C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1343C>A	5.37:g.140589822C>A	ENSP00000239450:p.Ala448Asp					PCDHB12_uc011dak.1_Missense_Mutation_p.A111D	p.A448D	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1532	+			448			Extracellular (Potential).|Cadherin 4.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1343C>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132003	0.37630	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.03301	3.98;3.98	3.83	3.83	0.44106	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.11623	0.0283	M	0.76433	2.335	0.24410	N	0.994667	P	0.36712	0.566	P	0.44990	0.466	T	0.02498	-1.1150	9	0.72032	D	0.01	.	15.759	0.78063	0.0:1.0:0.0:0.0	.	448	Q9Y5F1	PCDBC_HUMAN	D	111;448;68	ENSP00000440199:A111D;ENSP00000239450:A448D	ENSP00000239450:A448D	A	+	2	0	PCDHB12	140570006	0.055000	0.20627	0.672000	0.29872	0.005000	0.04900	3.230000	0.51286	1.859000	0.53934	0.485000	0.47835	GCC		PASS	0.607	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		17	84	17	84	---	---	---	---
PCDHGB6	56100	broad.mit.edu	37	5	140789620	140789620	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:140789620C>T	ENST00000520790.1	+	1	1851	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	617	Cadherin 6. {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.F617F(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGACTCTTCAGCCTGGGGC	0.687																																						uc003lkj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1849-1851)TTC>TTT		protocadherin gamma subfamily B, 6 isoform 1							24.0	29.0	28.0					5																	140789620		2160	4267	6427	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140789620C>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1851C>T	5.37:g.140789620C>T						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_uc003lki.1_Silent_p.F617F	p.F617F	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1851	+			617			Extracellular (Potential).|Cadherin 6.		Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1851C>T	CCDS54929.1																																																																																				PASS	0.687	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		5	26	5	26	---	---	---	---
PCDHGB6	56100	broad.mit.edu	37	5	140789936	140789936	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:140789936A>G	ENST00000520790.1	+	1	2167	c.2167A>G	c.(2167-2169)Act>Gct	p.T723A	PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	723					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T723A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCCTGCTACTTGGGACTG	0.537																																						uc003lkj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2167-2169)ACT>GCT		protocadherin gamma subfamily B, 6 isoform 1							140.0	145.0	144.0					5																	140789936		2058	4203	6261	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140789936A>G	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.2167A>G	5.37:g.140789936A>G	ENSP00000428603:p.Thr723Ala					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_uc003lki.1_Missense_Mutation_p.T723A|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank	p.T723A	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2167	+			723			Cytoplasmic (Potential).		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.2167A>G	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	1.993	-0.431300	0.04669	.	.	ENSG00000253305	ENST00000520790	T	0.12039	2.72	5.18	-6.02	0.02192	.	.	.	.	.	T	0.04003	0.0112	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.48139	-0.9061	9	0.17832	T	0.49	.	11.199	0.48730	0.2663:0.0:0.6445:0.0892	.	723;723	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	A	723	ENSP00000428603:T723A	ENSP00000428603:T723A	T	+	1	0	PCDHGB6	140770120	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.244000	0.01193	-1.298000	0.02348	-0.490000	0.04691	ACT		PASS	0.537	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		24	151	24	151	---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167855776	167855776	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:167855776A>G	ENST00000265293.4	+	13	2486	c.1984A>G	c.(1984-1986)Att>Gtt	p.I662V	WWC1_ENST00000521089.1_Missense_Mutation_p.I662V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	662	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.I662V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGCGACCCGAATTCAGATTGC	0.547																																						uc003lzu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|breast(1)	5						c.(1984-1986)ATT>GTT		WW and C2 domain containing 1 isoform 3							129.0	121.0	124.0					5																	167855776		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167855776A>G	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1984A>G	5.37:g.167855776A>G	ENSP00000265293:p.Ile662Val					WWC1_uc003lzv.2_Missense_Mutation_p.I662V|WWC1_uc011den.1_Missense_Mutation_p.I662V|WWC1_uc003lzw.2_Missense_Mutation_p.I461V|WWC1_uc010jjf.1_5'Flank	p.I662V	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	13	2077	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	662			C2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.1984A>G	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.223|0.223	-1.027344|-1.027344	0.02045|0.02045	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.15256|.	2.44;2.44|.	5.56|5.56	1.85|1.85	0.25348|0.25348	C2 calcium/lipid-binding domain, CaLB (1);|.	0.213242|.	0.39909|.	N|.	0.001227|.	T|T	0.16385|0.16385	0.0394|0.0394	N|N	0.04508|0.04508	-0.205|-0.205	0.28774|0.28774	N|N	0.900192|0.900192	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.0;0.001;0.0|.	T|T	0.28870|0.28870	-1.0030|-1.0030	10|5	0.02654|.	T|.	1|.	.|.	9.0211|9.0211	0.36200|0.36200	0.3448:0.0:0.6552:0.0|0.3448:0.0:0.6552:0.0	.|.	662;568;568;662|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	V|S	662|623;438	ENSP00000265293:I662V;ENSP00000427772:I662V|.	ENSP00000265293:I662V|.	I|N	+|+	1|2	0|0	WWC1|WWC1	167788354|167788354	1.000000|1.000000	0.71417|0.71417	0.909000|0.909000	0.35828|0.35828	0.650000|0.650000	0.38633|0.38633	1.830000|1.830000	0.39131|0.39131	0.058000|0.058000	0.16222|0.16222	-0.232000|-0.232000	0.12228|0.12228	ATT|AAT		PASS	0.547	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		13	48	13	48	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168119667	168119667	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:168119667C>G	ENST00000519560.1	-	29	3540	c.3121G>C	c.(3121-3123)Gag>Cag	p.E1041Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.E1048Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.E1041Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1041	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.E1041Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTTCAGCTCAGGCACACAG	0.577																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3121-3123)GAG>CAG		slit homolog 3 precursor							119.0	87.0	98.0					5																	168119667		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168119667C>G	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3121G>C	5.37:g.168119667C>G	ENSP00000430333:p.Glu1041Gln					SLIT3_uc010jjg.2_Missense_Mutation_p.E1048Q	p.E1041Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		29	3541	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1041			EGF-like 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3121G>C	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165270	0.78339	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.92446	-3.04;-2.22;-3.04	5.0	5.0	0.66597	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.199592	0.52532	D	0.000067	D	0.92215	0.7531	L	0.45285	1.41	0.54753	D	0.999984	P	0.34562	0.457	P	0.46299	0.511	D	0.91709	0.5380	10	0.45353	T	0.12	.	17.3006	0.87182	0.0:1.0:0.0:0.0	.	1041	O75094	SLIT3_HUMAN	Q	1041;1048;1041	ENSP00000430333:E1041Q;ENSP00000332164:E1048Q;ENSP00000384890:E1041Q	ENSP00000332164:E1048Q	E	-	1	0	SLIT3	168052245	0.009000	0.17119	0.013000	0.15412	0.984000	0.73092	2.361000	0.44160	2.320000	0.78422	0.650000	0.86243	GAG		PASS	0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		11	105	11	105	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180377429	180377429	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr5:180377429C>A	ENST00000340184.4	+	8	1594	c.1388C>A	c.(1387-1389)aCc>aAc	p.T463N	BTNL8_ENST00000505126.1_Missense_Mutation_p.T256N|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.T338N|BTNL8_ENST00000511704.1_Missense_Mutation_p.T347N|BTNL8_ENST00000533815.2_Missense_Mutation_p.T279N|BTNL8_ENST00000231229.4_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	463	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.T463N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCCAGTCACCCAGGAATCA	0.517																																						uc003mmp.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1387-1389)ACC>AAC		butyrophilin-like 8 isoform 2 precursor							116.0	98.0	104.0					5																	180377429		1903	3803	5706	SO:0001583	missense	79908					integral to membrane		g.chr5:180377429C>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1388C>A	5.37:g.180377429C>A	ENSP00000342197:p.Thr463Asn					BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.T338N|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.T347N|BTNL8_uc011dhh.1_Missense_Mutation_p.T279N	p.T463N	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1622	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	463			B30.2/SPRY.|Cytoplasmic (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.1388C>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	5.465	0.270854	0.10349	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.59772	1.37;0.68;0.67;0.24;0.27	1.11	0.102	0.14522	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.31136	0.0787	N	0.11560	0.145	0.09310	N	1	B;B;B	0.28850	0.118;0.225;0.043	B;B;B	0.25759	0.025;0.063;0.025	T	0.14727	-1.0462	9	0.37606	T	0.19	.	4.2317	0.10606	0.3958:0.6042:0.0:0.0	.	338;347;463	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	N	463;338;347;256;279	ENSP00000342197:T463N;ENSP00000383543:T338N;ENSP00000425207:T347N;ENSP00000427441:T256N;ENSP00000435098:T279N	ENSP00000342197:T463N	T	+	2	0	BTNL8	180310035	0.000000	0.05858	0.002000	0.10522	0.257000	0.26127	-0.017000	0.12590	0.027000	0.15297	0.184000	0.17185	ACC		PASS	0.517	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		47	242	47	242	---	---	---	---
FOXC1	2296	broad.mit.edu	37	6	1612301	1612301	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:1612301C>T	ENST00000380874.2	+	1	1621	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	541					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R541C(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GTCTCTGTACCGCACGTCCGG	0.512																																					Pancreas(133;719 1821 3197 26645 35015)	uc003mtp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1621-1623)CGC>TGC		forkhead box C1							87.0	76.0	80.0					6																	1612301		2203	4300	6503	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|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.chr6:1612301C>T	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1621C>T	6.37:g.1612301C>T	ENSP00000370256:p.Arg541Cys						p.R541C	NM_001453	NP_001444	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1621	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	541					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.1621C>T	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587856	0.66105	.	.	ENSG00000054598	ENST00000380874	D	0.83506	-1.73	3.74	2.86	0.33363	.	0.000000	0.64402	U	0.000004	T	0.79106	0.4390	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	P	0.57324	0.818	T	0.81486	-0.0911	10	0.87932	D	0	.	12.8311	0.57746	0.0:0.8342:0.1658:0.0	.	541	Q12948	FOXC1_HUMAN	C	541	ENSP00000370256:R541C	ENSP00000370256:R541C	R	+	1	0	FOXC1	1557300	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.507000	0.66999	0.778000	0.33520	0.448000	0.29417	CGC		PASS	0.512	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			13	62	13	62	---	---	---	---
TBC1D7	51256	broad.mit.edu	37	6	13327088	13327088	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:13327088C>T	ENST00000379300.3	-	2	286	c.43G>A	c.(43-45)Gag>Aag	p.E15K	TBC1D7_ENST00000356436.4_Missense_Mutation_p.E15K|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.E15K|TBC1D7_ENST00000343141.4_Missense_Mutation_p.E15K|TBC1D7_ENST00000607658.1_Missense_Mutation_p.E15K	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	15					activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E15K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CCCACTTTCTCATAATATACT	0.378																																						uc003naj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(43-45)GAG>AAG		TBC1 domain family, member 7 isoform a							80.0	82.0	81.0					6																	13327088		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13327088C>T	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.43G>A	6.37:g.13327088C>T	ENSP00000368602:p.Glu15Lys					TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.E15K|TBC1D7_uc003nal.2_Missense_Mutation_p.E15K|TBC1D7_uc003nam.2_Missense_Mutation_p.E15K|TBC1D7_uc003nao.2_Missense_Mutation_p.E15K|TBC1D7_uc010jpd.2_Missense_Mutation_p.E15K|TBC1D7_uc003nap.2_Missense_Mutation_p.E15K|TBC1D7_uc003naq.2_Missense_Mutation_p.E15K	p.E15K	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		2	134	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	15					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.43G>A	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	36	5.612306	0.96637	.	.	ENSG00000145979	ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.51817	2.31;2.31;2.31;0.88;1.26;0.97;0.97;2.31;1.03;0.91;2.31;2.31;0.69	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.997;1.0;0.97	D;D;D;D;D	0.91635	0.98;0.999;0.985;0.999;0.957	T	0.69277	-0.5187	10	0.72032	D	0.01	-30.986	18.757	0.91836	0.0:1.0:0.0:0.0	.	15;15;15;15;15	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	K	15	ENSP00000401438:E15K;ENSP00000348813:E15K;ENSP00000368602:E15K;ENSP00000368609:E15K;ENSP00000343100:E15K;ENSP00000414292:E15K;ENSP00000404680:E15K;ENSP00000394425:E15K;ENSP00000417005:E15K;ENSP00000412102:E15K;ENSP00000414101:E15K;ENSP00000401339:E15K;ENSP00000368593:E15K	ENSP00000343100:E15K	E	-	1	0	TBC1D7	13435067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.301000	0.78850	2.730000	0.93505	0.650000	0.86243	GAG		PASS	0.378	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		13	130	13	130	---	---	---	---
HIST1H2BG	8339	broad.mit.edu	37	6	26216643	26216643	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:26216643C>G	ENST00000244601.3	-	1	229	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	77					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77Q(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGGGAAGCCTCGCCTGCGATG	0.572																																						uc003ngz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)GAG>CAG		histone cluster 1, H2bg							148.0	137.0	141.0					6																	26216643		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216643C>G	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.229G>C	6.37:g.26216643C>G	ENSP00000244601:p.Glu77Gln					HIST1H2AE_uc003nha.1_5'Flank	p.E77Q	NM_003518	NP_003509	P62807	H2B1C_HUMAN			1	230	-		all_hematologic(11;0.196)	77					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.229G>C	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	18.27	3.587359	0.66105	.	.	ENSG00000187990	ENST00000244601	T	0.36340	1.26	3.99	3.99	0.46301	.	.	.	.	.	T	0.43478	0.1249	.	.	.	0.34873	D	0.743753	.	.	.	.	.	.	T	0.51108	-0.8747	6	0.87932	D	0	.	15.5859	0.76482	0.0:1.0:0.0:0.0	.	.	.	.	Q	77	ENSP00000244601:E77Q	ENSP00000244601:E77Q	E	-	1	0	HIST1H2BG	26324622	1.000000	0.71417	0.995000	0.50966	0.215000	0.24574	7.499000	0.81566	2.220000	0.72140	0.561000	0.74099	GAG		PASS	0.572	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		39	184	39	184	---	---	---	---
IER3	8870	broad.mit.edu	37	6	30707977	30707977	+	IGR	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:30707977G>C	ENST00000259874.5	-	0	1244				FLOT1_ENST00000376389.3_Silent_p.V227V|FLOT1_ENST00000470643.1_5'UTR|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_Silent_p.V179V	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V227V(1)		NS(1)	1						GGCGGGTGTTGACCTCGATGT	0.572																																						uc003nrm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(679-681)GTC>GTG		flotillin 1							116.0	87.0	97.0					6																	30707977		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30707977G>C	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30707977G>C						FLOT1_uc011dmr.1_Silent_p.V179V	p.V227V	NM_005803	NP_005794	O75955	FLOT1_HUMAN			8	845	-			227					Q5SU30|Q92691|Q93044	Silent	SNP	ENST00000259874.5	37	c.681C>G	CCDS4689.1																																																																																				PASS	0.572	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			18	52	18	52	---	---	---	---
HLA-C	3107	broad.mit.edu	37	6	31237800	31237800	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:31237800C>A	ENST00000376228.5	-	5	972	c.958G>T	c.(958-960)Gtc>Ttc	p.V320F	HLA-C_ENST00000383329.3_Missense_Mutation_p.V320F	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	326					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)	p.V320F(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ACAGCTAGGACAACCAGGACA	0.597																																						uc003nsy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(958-960)GTC>TTC		major histocompatibility complex, class I, C							46.0	47.0	47.0					6																	31237800		2197	4287	6484	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31237800C>A	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.958G>T	6.37:g.31237800C>A	ENSP00000365402:p.Val320Phe					HLA-C_uc011dnj.1_Missense_Mutation_p.V292F|HLA-C_uc003nsx.2_Missense_Mutation_p.V199F|HLA-C_uc003nsz.2_Missense_Mutation_p.V320F|HLA-C_uc010jsl.2_Missense_Mutation_p.V320F|HLA-C_uc003nta.2_Missense_Mutation_p.V320F|HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Missense_Mutation_p.V199F	p.V320F	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN			5	965	-			320			Helical; (Potential).		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.958G>T	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	4.399	0.073628	0.08485	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00940	5.54;5.52	0.109	0.109	0.14578	.	0.809822	0.09739	U	0.762088	T	0.01523	0.0049	M	0.70787	2.145	0.09310	N	1	D;D;D;D	0.71674	0.995;0.998;0.995;0.998	D;D;D;D	0.79784	0.993;0.993;0.993;0.993	T	0.47522	-0.9111	9	0.66056	D	0.02	.	.	.	.	.	320;320;320;320	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	F	320;320;320;357	ENSP00000365402:V320F;ENSP00000372819:V320F	ENSP00000365402:V320F	V	-	1	0	HLA-C	31345779	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.566000	0.05922	0.181000	0.19994	0.184000	0.17185	GTC		PASS	0.597	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		10	39	10	39	---	---	---	---
LY6G5B	58496	broad.mit.edu	37	6	31639832	31639832	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:31639832C>T	ENST00000375864.4	+	3	1163	c.379C>T	c.(379-381)Cct>Tct	p.P127S	LY6G5B_ENST00000409525.1_Missense_Mutation_p.P72S|CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	127						extracellular region (GO:0005576)		p.P127S(1)		lung(4)	4						CCTGGCCCTGCCTCTGTCTGA	0.612																																						uc003nvt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)CCT>TCT		lymphocyte antigen 6 complex G5B precursor							51.0	50.0	50.0					6																	31639832		1511	2707	4218	SO:0001583	missense	58496					extracellular region		g.chr6:31639832C>T	AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"""chromosome 6 open reading frame 19"""	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.379C>T	6.37:g.31639832C>T	ENSP00000365024:p.Pro127Ser					CSNK2B_uc003nvs.1_3'UTR	p.P127S	NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN			3	379	+			127					B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	ENST00000375864.4	37	c.379C>T	CCDS34400.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173421	0.38413	.	.	ENSG00000240053	ENST00000409691;ENST00000375864;ENST00000409525	T;T	0.21734	1.99;1.99	4.48	2.52	0.30459	.	.	.	.	.	T	0.10121	0.0248	L	0.32530	0.975	.	.	.	P	0.45957	0.869	P	0.47827	0.558	T	0.08006	-1.0743	8	0.87932	D	0	-9.5413	6.9669	0.24627	0.2004:0.6058:0.1938:0.0	.	127	Q8NDX9	LY65B_HUMAN	S	124;127;72	ENSP00000365024:P127S;ENSP00000386365:P72S	ENSP00000365024:P127S	P	+	1	0	LY6G5B	31747811	0.663000	0.27448	0.848000	0.33437	0.146000	0.21551	1.170000	0.31883	1.224000	0.43551	0.462000	0.41574	CCT		PASS	0.612	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000124389.4			22	64	22	64	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34804081	34804081	+	Missense_Mutation	SNP	G	G	T	rs199775314	byFrequency	TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:34804081G>T	ENST00000192788.5	+	8	1160	c.989G>T	c.(988-990)cGc>cTc	p.R330L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R330L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	330							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.R330L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCATCTCCCGCCTGGACCTG	0.582																																						uc003oju.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(988-990)CGC>CTC		ICBP90 binding protein 1							91.0	100.0	97.0					6																	34804081		2065	4223	6288	SO:0001583	missense	54887							g.chr6:34804081G>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.989G>T	6.37:g.34804081G>T	ENSP00000192788:p.Arg330Leu					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	p.R330L	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			8	1223	+			330					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.989G>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780953	0.90282	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.13901	2.55;2.55	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.00475	-1.1717	10	0.66056	D	0.02	-6.9896	11.0448	0.47852	0.0849:0.0:0.9151:0.0	.	330	Q6BDS2	URFB1_HUMAN	L	330	ENSP00000192788:R330L;ENSP00000400628:R330L	ENSP00000192788:R330L	R	+	2	0	UHRF1BP1	34912059	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.718000	0.84743	2.382000	0.81193	0.455000	0.32223	CGC		PASS	0.582	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		44	179	44	179	---	---	---	---
CLPSL1	340204	broad.mit.edu	37	6	35755727	35755727	+	Missense_Mutation	SNP	C	C	G	rs373793944		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:35755727C>G	ENST00000373861.5	+	3	400	c.306C>G	c.(304-306)atC>atG	p.I102M	CLPSL1_ENST00000542261.1_Missense_Mutation_p.I101M			A2RUU4	COLL1_HUMAN	colipase-like 1	102					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)	p.I102M(1)									GGCTTAGCATCGCCTATGGCC	0.483																																						uc003old.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(304-306)ATC>ATG		hypothetical protein LOC340204 precursor							166.0	167.0	167.0					6																	35755727		2028	4196	6224	SO:0001583	missense	340204				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35755727C>G		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 127"""	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.306C>G	6.37:g.35755727C>G	ENSP00000362968:p.Ile102Met						p.I102M	NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN			3	363	+			102					A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	ENST00000373861.5	37	c.306C>G	CCDS43456.1	.	.	.	.	.	.	.	.	.	.	C	9.683	1.149795	0.21288	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261	T;T	0.33216	1.42;1.42	2.69	0.591	0.17465	.	1.307360	0.05926	U	0.634281	T	0.24431	0.0592	L	0.36672	1.1	0.09310	N	1	D	0.64830	0.994	D	0.65233	0.933	T	0.17471	-1.0368	10	0.72032	D	0.01	.	7.0112	0.24863	0.0:0.6908:0.0:0.3092	.	102	A2RUU4	CF127_HUMAN	M	102;102;101	ENSP00000362968:I102M;ENSP00000438478:I101M	ENSP00000362967:I102M	I	+	3	3	C6orf127	35863705	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.022000	0.12480	-0.121000	0.11787	-1.094000	0.02160	ATC		PASS	0.483	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886		13	122	13	122	---	---	---	---
PGK2	5232	broad.mit.edu	37	6	49754754	49754754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:49754754G>T	ENST00000304801.3	-	1	299	c.147C>A	c.(145-147)taC>taA	p.Y49*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	49					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.Y49*(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TGTCCAGGCAGTACTTGATGC	0.473																																						uc003ozu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(145-147)TAC>TAA		phosphoglycerate kinase 2							213.0	180.0	191.0					6																	49754754		2203	4300	6503	SO:0001587	stop_gained	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754754G>T	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.147C>A	6.37:g.49754754G>T	ENSP00000305995:p.Tyr49*						p.Y49*	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	254	-	Lung NSC(77;0.0402)		49					B2R6Y8|Q9H107	Nonsense_Mutation	SNP	ENST00000304801.3	37	c.147C>A	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319998	0.95682	.	.	ENSG00000170950	ENST00000304801	.	.	.	4.09	3.21	0.36854	.	0.210063	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9297	9.923	0.41474	0.1026:0.0:0.8973:0.0	.	.	.	.	X	49	.	ENSP00000305995:Y49X	Y	-	3	2	PGK2	49862713	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	4.178000	0.58284	1.295000	0.44724	0.585000	0.79938	TAC		PASS	0.473	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			25	185	25	185	---	---	---	---
DEFB112	245915	broad.mit.edu	37	6	50011472	50011472	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:50011472G>C	ENST00000322246.4	-	2	157	c.158C>G	c.(157-159)tCa>tGa	p.S53*		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	53					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.S53*(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CGCTGTACATGACTTCCACCT	0.418																																						uc011dws.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(157-159)TCA>TGA		beta-defensin 112 precursor							181.0	144.0	157.0					6																	50011472		2203	4300	6503	SO:0001587	stop_gained	245915				defense response to bacterium	extracellular region		g.chr6:50011472G>C	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.158C>G	6.37:g.50011472G>C	ENSP00000319126:p.Ser53*						p.S53*	NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN			2	158	-	Lung NSC(77;0.042)		53					Q8NET0	Nonsense_Mutation	SNP	ENST00000322246.4	37	c.158C>G	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788586	0.16258	.	.	ENSG00000180872	ENST00000322246	.	.	.	3.43	0.521	0.17046	.	1.126520	0.06992	N	0.821795	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.0149	2.6767	0.05083	0.257:0.0:0.5036:0.2394	.	.	.	.	X	53	.	ENSP00000319126:S53X	S	-	2	0	DEFB112	50119431	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.443000	0.06862	0.094000	0.17404	0.549000	0.68633	TCA		PASS	0.418	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		24	170	24	170	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51934297	51934297	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:51934297T>C	ENST00000371117.3	-	11	1011	c.736A>G	c.(736-738)Atc>Gtc	p.I246V	PKHD1_ENST00000340994.4_Missense_Mutation_p.I246V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	246			I -> T (in ARPKD). {ECO:0000269|PubMed:19914852}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.I246V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTAGCACTGATCAGCCATGCC	0.448																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(736-738)ATC>GTC		fibrocystin isoform 1							277.0	254.0	262.0					6																	51934297		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51934297T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.736A>G	6.37:g.51934297T>C	ENSP00000360158:p.Ile246Val					PKHD1_uc003pai.2_Missense_Mutation_p.I246V	p.I246V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			11	1012	-	Lung NSC(77;0.0605)		246			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.736A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	7.684	0.689647	0.14973	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.85258	-1.77;-1.96	5.28	-0.0818	0.13701	.	0.319059	0.30732	N	0.008988	T	0.41534	0.1163	N	0.10809	0.05	0.24603	N	0.993767	B;B	0.12013	0.005;0.001	B;B	0.10450	0.005;0.002	T	0.48055	-0.9068	10	0.06494	T	0.89	.	9.2181	0.37360	0.0:0.4059:0.0:0.5941	.	246;246	P08F94-2;P08F94	.;PKHD1_HUMAN	V	246	ENSP00000360158:I246V;ENSP00000341097:I246V	ENSP00000341097:I246V	I	-	1	0	PKHD1	52042256	1.000000	0.71417	0.991000	0.47740	0.959000	0.62525	0.551000	0.23361	-0.155000	0.11098	0.529000	0.55759	ATC		PASS	0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		19	200	19	200	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75833800	75833800	+	Silent	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:75833800T>C	ENST00000322507.8	-	42	7044	c.6735A>G	c.(6733-6735)ggA>ggG	p.G2245G	COL12A1_ENST00000483888.2_Silent_p.G2245G|COL12A1_ENST00000345356.6_Silent_p.G1081G|COL12A1_ENST00000416123.2_Silent_p.G2245G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2245	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G2245G(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAATTTCTTGTCCCCTTGTTC	0.383																																						uc003phs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(6733-6735)GGA>GGG		collagen, type XII, alpha 1 long isoform							114.0	107.0	109.0					6																	75833800		1905	4119	6024	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75833800T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6735A>G	6.37:g.75833800T>C						COL12A1_uc003pht.2_Silent_p.G1081G	p.G2245G	NM_004370	NP_004361	Q99715	COCA1_HUMAN			42	6901	-			2245			Fibronectin type-III 18.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.6735A>G	CCDS43482.1																																																																																				PASS	0.383	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		27	114	27	114	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75875447	75875447	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:75875447G>A	ENST00000322507.8	-	14	3068	c.2759C>T	c.(2758-2760)tCa>tTa	p.S920L	COL12A1_ENST00000483888.2_Missense_Mutation_p.S920L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S920L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	920	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.S920L(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGCCCCAATTGATGTGTCAGT	0.378																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(2758-2760)TCA>TTA		collagen, type XII, alpha 1 long isoform							102.0	94.0	97.0					6																	75875447		1864	4109	5973	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75875447G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2759C>T	6.37:g.75875447G>A	ENSP00000325146:p.Ser920Leu					COL12A1_uc003pht.2_Intron	p.S920L	NM_004370	NP_004361	Q99715	COCA1_HUMAN			14	2925	-			920			Fibronectin type-III 6.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2759C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033988	0.75504	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.63417	-0.04;-0.04;-0.04	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.123814	0.33290	N	0.005070	T	0.65863	0.2732	M	0.80422	2.495	0.40981	D	0.984774	P	0.36110	0.537	B	0.43018	0.405	T	0.72724	-0.4207	10	0.87932	D	0	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	920	Q99715	COCA1_HUMAN	L	920	ENSP00000325146:S920L;ENSP00000412864:S920L;ENSP00000421216:S920L	ENSP00000325146:S920L	S	-	2	0	COL12A1	75932167	1.000000	0.71417	0.988000	0.46212	0.864000	0.49448	6.707000	0.74654	2.469000	0.83416	0.563000	0.77884	TCA		PASS	0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		21	160	21	160	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75887482	75887482	+	Silent	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:75887482T>C	ENST00000322507.8	-	12	2643	c.2334A>G	c.(2332-2334)acA>acG	p.T778T	COL12A1_ENST00000483888.2_Silent_p.T778T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.T778T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	778	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.T778T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTTCTCCAGTGTTCTCCTCC	0.433																																						uc003phs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(2332-2334)ACA>ACG		collagen, type XII, alpha 1 long isoform							302.0	295.0	297.0					6																	75887482		1876	4108	5984	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75887482T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2334A>G	6.37:g.75887482T>C						COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.T436T	p.T778T	NM_004370	NP_004361	Q99715	COCA1_HUMAN			12	2500	-			778			Fibronectin type-III 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.2334A>G	CCDS43482.1																																																																																				PASS	0.433	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		100	596	100	596	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76728496	76728496	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:76728496G>A	ENST00000369950.3	-	7	935	c.746C>T	c.(745-747)gCa>gTa	p.A249V	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.A249V(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGCGAGCTCTGCCTTGAACTT	0.493																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(745-747)GCA>GTA		interphotoreceptor matrix proteoglycan 1							125.0	115.0	118.0					6																	76728496		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76728496G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.746C>T	6.37:g.76728496G>A	ENSP00000358966:p.Ala249Val						p.A249V	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			7	876	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	249			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.746C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141813	0.37825	.	.	ENSG00000112706	ENST00000369950	T	0.40225	1.04	6.17	2.26	0.28386	SEA (3);	0.277751	0.31221	N	0.008022	T	0.20414	0.0491	M	0.61703	1.905	0.58432	D	0.999994	B	0.27140	0.169	B	0.30572	0.117	T	0.04723	-1.0931	10	0.45353	T	0.12	.	5.2759	0.15649	0.0692:0.126:0.5439:0.2609	.	249	Q17R60	IMPG1_HUMAN	V	249	ENSP00000358966:A249V	ENSP00000358966:A249V	A	-	2	0	IMPG1	76785216	0.002000	0.14202	0.477000	0.27303	0.559000	0.35586	0.529000	0.23019	0.124000	0.18369	0.655000	0.94253	GCA		PASS	0.493	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		24	136	24	136	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109819062	109819062	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:109819062C>G	ENST00000424296.2	-	37	5229	c.5153G>C	c.(5152-5154)cGa>cCa	p.R1718P	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1718					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.R117P(1)|p.R1718P(1)									CTTAGGGAATCGACTCTTCAG	0.493																																						uc003ptn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5152-5154)CGA>CCA		adenylate kinase domain containing 1 isoform 1							149.0	140.0	143.0					6																	109819062		2203	4300	6503	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109819062C>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5153G>C	6.37:g.109819062C>G	ENSP00000410186:p.Arg1718Pro					AKD1_uc011eas.1_Missense_Mutation_p.R103P	p.R1718P	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			37	5230	-			1718					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.5153G>C	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.95|13.95	2.388850|2.388850	0.42308|0.42308	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000424296	.|T	.|0.64991	.|-0.13	5.55|5.55	3.45|3.45	0.39498|0.39498	.|.	.|0.171581	.|0.48767	.|D	.|0.000174	T|T	0.53738|0.53738	0.1815|0.1815	M|M	0.68952|0.68952	2.095|2.095	0.09310|0.09310	N|N	1|1	.|D;D	.|0.55385	.|0.971;0.971	.|P;P	.|0.55824	.|0.785;0.706	T|T	0.49688|0.49688	-0.8913|-0.8913	5|9	.|.	.|.	.|.	.|.	4.9328|4.9328	0.13926|0.13926	0.1964:0.5543:0.0:0.2494|0.1964:0.5543:0.0:0.2494	.|.	.|103;1718	.|B7ZL24;Q5TCS8	.|.;AKD1_HUMAN	H|P	556|1718	.|ENSP00000410186:R1718P	.|.	D|R	-|-	1|2	0|0	AKD1|AKD1	109925755|109925755	0.003000|0.003000	0.15002|0.15002	0.010000|0.010000	0.14722|0.14722	0.913000|0.913000	0.54294|0.54294	1.288000|1.288000	0.33296|0.33296	1.362000|1.362000	0.46000|0.46000	0.561000|0.561000	0.74099|0.74099	GAT|CGA		PASS	0.493	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		17	155	17	155	---	---	---	---
WASF1	8936	broad.mit.edu	37	6	110423414	110423414	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:110423414G>A	ENST00000392589.1	-	10	1735	c.899C>T	c.(898-900)gCt>gTt	p.A300V	WASF1_ENST00000392587.2_Missense_Mutation_p.A300V|WASF1_ENST00000359451.2_Missense_Mutation_p.A300V|WASF1_ENST00000392586.1_Missense_Mutation_p.A300V|WASF1_ENST00000392588.1_Missense_Mutation_p.A300V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	300					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)	p.A300V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CAAACCTGTAGCAGAACTGAA	0.418																																						uc003ptv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(898-900)GCT>GTT		Wiskott-Aldrich syndrome protein family member							99.0	96.0	97.0					6																	110423414		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110423414G>A	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.899C>T	6.37:g.110423414G>A	ENSP00000376368:p.Ala300Val					WASF1_uc003ptw.1_Missense_Mutation_p.A300V|WASF1_uc003ptx.1_Missense_Mutation_p.A300V|WASF1_uc003pty.1_Missense_Mutation_p.A300V	p.A300V	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	1736	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	300					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.899C>T	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830485	0.71258	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.64	5.64	0.86602	.	0.323365	0.30464	N	0.009569	T	0.14960	0.0361	N	0.08118	0	0.31073	N	0.71284	B	0.09022	0.002	B	0.09377	0.004	T	0.04281	-1.0963	10	0.14252	T	0.57	.	19.7561	0.96291	0.0:0.0:1.0:0.0	.	300	Q92558	WASF1_HUMAN	V	300	ENSP00000376365:A300V;ENSP00000376366:A300V;ENSP00000376368:A300V;ENSP00000376367:A300V;ENSP00000352425:A300V	ENSP00000352425:A300V	A	-	2	0	WASF1	110530107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.480000	0.66820	2.672000	0.90937	0.539000	0.68188	GCT		PASS	0.418	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		34	178	34	178	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117198459	117198459	+	Silent	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:117198459G>T	ENST00000332958.2	+	1	37	c.21G>T	c.(19-21)ctG>ctT	p.L7L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	7					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.L7L(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						TCCCGGAGCTGGAAGACACCT	0.726																																						uc003pxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(19-21)CTG>CTT		regulatory factor X, 6							15.0	18.0	17.0					6																	117198459		2198	4294	6492	SO:0001819	synonymous_variant	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.chr6:117198459G>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.21G>T	6.37:g.117198459G>T							p.L7L	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			1	84	+			7					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.21G>T	CCDS5113.1																																																																																				PASS	0.726	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		3	31	3	31	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117237368	117237368	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:117237368A>G	ENST00000332958.2	+	9	879	c.863A>G	c.(862-864)cAg>cGg	p.Q288R	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	288					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.Q288R(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						AACTAGATCCAGCATTTTTTA	0.323																																						uc003pxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(862-864)CAG>CGG		regulatory factor X, 6							118.0	116.0	116.0					6																	117237368		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.chr6:117237368A>G	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.863A>G	6.37:g.117237368A>G	ENSP00000332208:p.Gln288Arg						p.Q288R	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			9	926	+			288					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.863A>G	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541722	0.85917	.	.	ENSG00000185002	ENST00000332958	T	0.57907	0.37	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	L	0.46157	1.445	0.58432	D	0.999998	D	0.71674	0.998	D	0.66497	0.944	T	0.63603	-0.6600	10	0.87932	D	0	-14.3309	15.7992	0.78439	1.0:0.0:0.0:0.0	.	288	Q8HWS3	RFX6_HUMAN	R	288	ENSP00000332208:Q288R	ENSP00000332208:Q288R	Q	+	2	0	RFX6	117344061	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.124000	0.77185	2.133000	0.65898	0.482000	0.46254	CAG		PASS	0.323	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		29	204	29	204	---	---	---	---
GOPC	57120	broad.mit.edu	37	6	117896345	117896345	+	Silent	SNP	T	T	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:117896345T>G	ENST00000368498.2	-	4	720	c.645A>C	c.(643-645)gcA>gcC	p.A215A	GOPC_ENST00000052569.6_Silent_p.A207A|GOPC_ENST00000467125.1_5'Flank|GOPC_ENST00000535237.1_Splice_Site_p.A215A	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	215					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)	p.A215A(1)	GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CACACCTTCCTGCCAGTTCCT	0.363			O	ROS1	glioblastoma																																	uc003pxu.2				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma		1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(643-645)GCA>GCC		golgi associated PDZ and coiled-coil motif							107.0	98.0	101.0					6																	117896345		2203	4300	6503	SO:0001819	synonymous_variant	57120				apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding	g.chr6:117896345T>G	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.645A>C	6.37:g.117896345T>G						GOPC_uc003pxq.1_5'Flank|GOPC_uc003pxv.2_Silent_p.A207A	p.A215A	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	4	875	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)	215					A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	c.645A>C	CCDS5117.1																																																																																				PASS	0.363	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		27	124	27	124	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152650936	152650936	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:152650936C>A	ENST00000367255.5	-	78	15485	c.14884G>T	c.(14884-14886)Gat>Tat	p.D4962Y	SYNE1_ENST00000265368.4_Missense_Mutation_p.D4962Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.D4891Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4709Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.D4891Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4962					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.D4962Y(2)|p.D4891Y(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)		TGTTCTAAATCCGCAGAAATC	0.483										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14884-14886)GAT>TAT		spectrin repeat containing, nuclear envelope 1							196.0	197.0	196.0					6																	152650936		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152650936C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14884G>T	6.37:g.152650936C>A	ENSP00000356224:p.Asp4962Tyr	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.D4891Y|SYNE1_uc003qou.3_Missense_Mutation_p.D4962Y|SYNE1_uc010kiz.2_Missense_Mutation_p.D717Y	p.D4962Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15486	-		Ovarian(120;0.0955)	4962			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14884G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837561	0.50951	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	6.03	5.16	0.70880	.	0.280881	0.30151	N	0.010298	T	0.45418	0.1341	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.65815	0.995;0.98;0.98;0.988	D;P;P;P	0.65773	0.938;0.597;0.597;0.809	T	0.48340	-0.9044	10	0.56958	D	0.05	.	15.2271	0.73359	0.0:0.9329:0.0:0.0671	.	4962;4962;4962;4891	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	4962;4891;4962;4891;4709	ENSP00000356224:D4962Y;ENSP00000396024:D4891Y;ENSP00000265368:D4962Y;ENSP00000390975:D4891Y;ENSP00000341887:D4709Y	ENSP00000265368:D4962Y	D	-	1	0	SYNE1	152692629	0.998000	0.40836	0.034000	0.17996	0.058000	0.15608	3.569000	0.53827	1.552000	0.49463	0.655000	0.94253	GAT		PASS	0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		45	362	45	362	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155728352	155728352	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:155728352C>T	ENST00000159060.2	-	12	1594	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	498					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.D498N(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTAATCACGTCAGTATTTTCG	0.388																																						uc003qqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1492-1494)GAC>AAC		NADPH oxidase 3							190.0	161.0	171.0					6																	155728352		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155728352C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1492G>A	6.37:g.155728352C>T	ENSP00000159060:p.Asp498Asn						p.D498N	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	12	1595	-		Breast(66;0.0183)	498			Cytoplasmic (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1492G>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001136	0.74818	.	.	ENSG00000074771	ENST00000159060	D	0.97575	-4.44	5.34	5.34	0.76211	Ferric reductase, NAD binding (1);	0.166124	0.42420	D	0.000701	D	0.99133	0.9701	H	0.97077	3.935	0.51482	D	0.999928	D	0.89917	1.0	D	0.91635	0.999	D	0.99243	1.0885	10	0.87932	D	0	-24.814	19.3973	0.94612	0.0:1.0:0.0:0.0	.	498	Q9HBY0	NOX3_HUMAN	N	498	ENSP00000159060:D498N	ENSP00000159060:D498N	D	-	1	0	NOX3	155770044	1.000000	0.71417	0.476000	0.27291	0.337000	0.28794	6.877000	0.75562	2.660000	0.90430	0.655000	0.94253	GAC		PASS	0.388	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			14	90	14	90	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158882724	158882724	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:158882724G>T	ENST00000367097.3	+	6	2346	c.989G>T	c.(988-990)cGt>cTt	p.R330L	TULP4_ENST00000367094.2_Missense_Mutation_p.R330L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	330					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R330L(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TACAATGTTCGTGGGGAGCAC	0.483																																						uc003qrf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(988-990)CGT>CTT		tubby like protein 4 isoform 1							122.0	95.0	104.0					6																	158882724		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158882724G>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.989G>T	6.37:g.158882724G>T	ENSP00000356064:p.Arg330Leu					TULP4_uc011efo.1_Missense_Mutation_p.R330L|TULP4_uc003qrg.2_Missense_Mutation_p.R330L	p.R330L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	6	2346	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	330					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.989G>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415077	0.62511	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.18174	2.23;2.23	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116092	0.64402	D	0.000013	T	0.09379	0.0231	L	0.56769	1.78	0.47009	D	0.999282	B;B;B	0.34313	0.208;0.151;0.448	B;B;B	0.31390	0.026;0.04;0.129	T	0.06661	-1.0814	10	0.23302	T	0.38	-14.0787	14.1917	0.65641	0.0712:0.0:0.9288:0.0	.	330;330;330	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	L	330	ENSP00000356064:R330L;ENSP00000356061:R330L	ENSP00000356061:R330L	R	+	2	0	TULP4	158802712	0.419000	0.25449	0.061000	0.19648	0.998000	0.95712	1.926000	0.40084	2.722000	0.93159	0.650000	0.86243	CGT		PASS	0.483	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		25	131	25	131	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158924188	158924188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:158924188C>T	ENST00000367097.3	+	13	4850	c.3493C>T	c.(3493-3495)Cga>Tga	p.R1165*	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1165					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1165*(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGACGTGTCCCGACTGCCCTT	0.557																																						uc003qrf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(3493-3495)CGA>TGA		tubby like protein 4 isoform 1							93.0	88.0	90.0					6																	158924188		2203	4300	6503	SO:0001587	stop_gained	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924188C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3493C>T	6.37:g.158924188C>T	ENSP00000356064:p.Arg1165*					TULP4_uc003qrg.2_Intron	p.R1165*	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4850	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1165					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Nonsense_Mutation	SNP	ENST00000367097.3	37	c.3493C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	50	16.696835	0.99870	.	.	ENSG00000130338	ENST00000367097	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6488	18.6491	0.91423	0.0:1.0:0.0:0.0	.	.	.	.	X	1165	.	ENSP00000356064:R1165X	R	+	1	2	TULP4	158844176	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	4.404000	0.59735	2.640000	0.89533	0.561000	0.74099	CGA		PASS	0.557	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		16	155	16	155	---	---	---	---
SLC22A2	6582	broad.mit.edu	37	6	160664782	160664782	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr6:160664782C>G	ENST00000366953.3	-	7	1359	c.1101G>C	c.(1099-1101)atG>atC	p.M367I	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	367					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.M367I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GGCCCATGTGCATGATGAGGC	0.517																																						uc003qtf.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1099-1101)ATG>ATC		solute carrier family 22 member 2							94.0	85.0	88.0					6																	160664782		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160664782C>G	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1101G>C	6.37:g.160664782C>G	ENSP00000355920:p.Met367Ile					SLC22A2_uc003qte.1_Missense_Mutation_p.M367I	p.M367I	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	7	1271	-		Breast(66;0.000776)|Ovarian(120;0.0303)	367			Helical; (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1101G>C	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214807	0.95104	.	.	ENSG00000112499	ENST00000366953	T	0.74106	-0.81	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.82010	0.4944	M	0.79475	2.455	0.80722	D	1	P;D	0.54397	0.925;0.966	P;P	0.56751	0.803;0.805	T	0.82684	-0.0335	10	0.56958	D	0.05	.	19.2576	0.93952	0.0:1.0:0.0:0.0	.	367;367	O15244;O15244-2	S22A2_HUMAN;.	I	367	ENSP00000355920:M367I	ENSP00000355920:M367I	M	-	3	0	SLC22A2	160584772	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.553000	0.82203	2.789000	0.95967	0.655000	0.94253	ATG		PASS	0.517	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		8	81	8	81	---	---	---	---
FBXL18	80028	broad.mit.edu	37	7	5545180	5545180	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:5545180C>T	ENST00000382368.3	-	2	223	c.100G>A	c.(100-102)Gag>Aag	p.E34K	FBXL18_ENST00000453700.3_Missense_Mutation_p.E34K	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	34	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.E34K(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AGGAGGATCTCATCAGAGAAC	0.552																																						uc003soo.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(100-102)GAG>AAG		F-box and leucine-rich repeat protein 18							86.0	95.0	92.0					7																	5545180		2125	4237	6362	SO:0001583	missense	80028							g.chr7:5545180C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.100G>A	7.37:g.5545180C>T	ENSP00000371805:p.Glu34Lys					FBXL18_uc003son.3_Missense_Mutation_p.E34K	p.E34K	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	2	194	-		Ovarian(82;0.0607)	34			F-box.		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.100G>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714753	0.89112	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.69040	-0.37;-0.37	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.77324	-0.2630	10	0.72032	D	0.01	.	17.2684	0.87093	0.0:1.0:0.0:0.0	.	34;34	F5H4Z4;Q96ME1-4	.;.	K	34	ENSP00000371805:E34K;ENSP00000444797:E34K	ENSP00000311990:E34K	E	-	1	0	FBXL18	5511706	1.000000	0.71417	0.945000	0.38365	0.432000	0.31715	7.273000	0.78527	2.328000	0.79073	0.491000	0.48974	GAG		PASS	0.552	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		24	118	24	118	---	---	---	---
USP42	84132	broad.mit.edu	37	7	6187427	6187427	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:6187427G>C	ENST00000306177.5	+	12	1448	c.1290G>C	c.(1288-1290)caG>caC	p.Q430H		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	430					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.Q430H(1)|p.Q558H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GCCCCGGCCAGTCCTCTCCCC	0.542																																						uc011jwo.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(1288-1290)CAG>CAC		ubiquitin specific peptidase 42							80.0	84.0	82.0					7																	6187427		1963	4144	6107	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6187427G>C	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1290G>C	7.37:g.6187427G>C	ENSP00000301962:p.Gln430His					USP42_uc010kth.1_Missense_Mutation_p.Q363H|USP42_uc011jwp.1_Missense_Mutation_p.Q430H|USP42_uc011jwq.1_Missense_Mutation_p.Q237H|USP42_uc011jwr.1_Missense_Mutation_p.Q275H	p.Q430H	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	12	1413	+		Ovarian(82;0.0423)	430					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.1290G>C	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898174	0.72639	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.16743	2.32;3.01;2.74	5.15	3.3	0.37823	.	0.102660	0.43416	D	0.000569	T	0.21590	0.0520	M	0.67953	2.075	0.35034	D	0.759045	B;P;B;B	0.36144	0.226;0.539;0.404;0.404	B;B;B;B	0.41917	0.145;0.37;0.204;0.204	T	0.23297	-1.0192	10	0.54805	T	0.06	.	7.1062	0.25364	0.1577:0.1412:0.7011:0.0	.	393;430;430;430	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	H	430;363;276	ENSP00000301962:Q430H;ENSP00000430568:Q363H;ENSP00000408217:Q276H	ENSP00000301962:Q430H	Q	+	3	2	USP42	6153953	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.242000	0.51384	1.143000	0.42306	0.563000	0.77884	CAG		PASS	0.542	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		20	120	20	120	---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20403298	20403298	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:20403298G>A	ENST00000222573.4	+	2	850	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	56					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.A56T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGCATCCTGTGCCAGGTGCCT	0.393																																						uc003suu.2																			2	Substitution - Missense(2)		lung(2)	skin(3)	3						c.(166-168)GCC>ACC		integrin, beta 8 precursor							69.0	62.0	64.0					7																	20403298		2203	4299	6502	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20403298G>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.166G>A	7.37:g.20403298G>A	ENSP00000222573:p.Ala56Thr					ITGB8_uc011jyh.1_5'UTR|ITGB8_uc003sut.2_Missense_Mutation_p.A56T	p.A56T	NM_002214	NP_002205	P26012	ITB8_HUMAN			2	871	+			56			Extracellular (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.166G>A	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	8.030	0.761439	0.15914	.	.	ENSG00000105855	ENST00000222573	D	0.92397	-3.03	5.57	-5.47	0.02600	Integrin beta subunit, N-terminal (2);	0.675220	0.14073	N	0.343215	T	0.72220	0.3433	N	0.03115	-0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.56920	-0.7899	10	0.09338	T	0.73	-0.2895	5.1651	0.15081	0.3803:0.0:0.2483:0.3714	.	56;56	P26012;Q9BUG9	ITB8_HUMAN;.	T	56	ENSP00000222573:A56T	ENSP00000222573:A56T	A	+	1	0	ITGB8	20369823	0.023000	0.18921	0.058000	0.19502	0.649000	0.38597	-0.261000	0.08694	-0.359000	0.08150	-0.345000	0.07892	GCC		PASS	0.393	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		8	64	8	64	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21639650	21639650	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:21639650T>A	ENST00000409508.3	+	15	2944	c.2913T>A	c.(2911-2913)gaT>gaA	p.D971E	DNAH11_ENST00000328843.6_Missense_Mutation_p.D971E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	971	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D971E(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTTCTATGATCTTGTAGAAG	0.393									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2911-2913)GAT>GAA		dynein, axonemal, heavy chain 11							60.0	58.0	59.0					7																	21639650		1854	4091	5945	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639650T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2913T>A	7.37:g.21639650T>A	ENSP00000475939:p.Asp971Glu						p.D971E	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2944	+			971			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2913T>A		.	.	.	.	.	.	.	.	.	.	T	10.55	1.381111	0.24944	.	.	ENSG00000105877	ENST00000328843	T	0.22134	1.97	5.72	-6.71	0.01760	.	0.166837	0.51477	D	0.000082	T	0.11750	0.0286	.	.	.	0.22378	N	0.999157	B	0.18461	0.028	B	0.12837	0.008	T	0.13953	-1.0490	9	0.13470	T	0.59	.	21.4761	0.99954	0.0:0.7847:0.0:0.2153	.	971	Q96DT5	DYH11_HUMAN	E	971	ENSP00000330671:D971E	ENSP00000330671:D971E	D	+	3	2	DNAH11	21606175	0.035000	0.19736	0.016000	0.15963	0.943000	0.58893	-0.672000	0.05244	-1.110000	0.02992	-0.408000	0.06270	GAT		PASS	0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	57	5	57	---	---	---	---
JAZF1	221895	broad.mit.edu	37	7	27934861	27934861	+	Silent	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:27934861T>C	ENST00000283928.5	-	3	528	c.363A>G	c.(361-363)tcA>tcG	p.S121S		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	121					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)	p.S121S(1)	JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TGCTGCGGAATGAAGAGGAGG	0.612			T	SUZ12	endometrial stromal tumours																																	uc003szn.2				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(131)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(98)|endometrium(33)	131						c.(361-363)TCA>TCG		JAZF zinc finger 1																																				SO:0001819	synonymous_variant	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27934861T>C	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.363A>G	7.37:g.27934861T>C						JAZF1_uc003szm.2_Silent_p.S57S	p.S121S	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN			3	604	-			121					A4D195|Q8N3L7	Silent	SNP	ENST00000283928.5	37	c.363A>G	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.299061	0.23650	.	.	ENSG00000153814	ENST00000427814	.	.	.	5.71	-9.49	0.00587	.	.	.	.	.	T	0.32255	0.0823	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43376	-0.9395	4	.	.	.	-11.9474	1.4846	0.02444	0.1604:0.2851:0.252:0.3025	.	.	.	.	R	108	.	.	H	-	2	0	JAZF1	27901386	0.054000	0.20591	0.899000	0.35326	0.995000	0.86356	-1.097000	0.03349	-1.212000	0.02620	-0.327000	0.08410	CAT		PASS	0.612	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		5	32	5	32	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43484409	43484409	+	Silent	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:43484409C>A	ENST00000395891.2	+	11	2243	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	HECW1_ENST00000453890.1_Silent_p.I546I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	546					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I525I(1)|p.I546I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGACGGTGATCGCGTCAGCCT	0.687																																						uc003tid.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1636-1638)ATC>ATA		NEDD4-like ubiquitin-protein ligase 1							41.0	51.0	48.0					7																	43484409		2110	4221	6331	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484409C>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1638C>A	7.37:g.43484409C>A						HECW1_uc011kbi.1_Silent_p.I546I	p.I546I	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2243	+			546					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1638C>A	CCDS5469.2																																																																																				PASS	0.687	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		4	68	4	68	---	---	---	---
SEMA3C	10512	broad.mit.edu	37	7	80378307	80378307	+	Silent	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:80378307T>C	ENST00000265361.3	-	17	2310	c.1749A>G	c.(1747-1749)gtA>gtG	p.V583V	SEMA3C_ENST00000419255.2_Silent_p.V583V|SEMA3C_ENST00000544525.1_Silent_p.V601V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	583	Ig-like C2-type.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.V583V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGTTATTTTTTACTCCATACT	0.423																																						uc003uhj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1747-1749)GTA>GTG		semaphorin 3C precursor							119.0	109.0	112.0					7																	80378307		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80378307T>C	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1749A>G	7.37:g.80378307T>C						SEMA3C_uc011kgw.1_Silent_p.V601V	p.V583V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			17	2311	-			583			Ig-like C2-type.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.1749A>G	CCDS5596.1																																																																																				PASS	0.423	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		18	102	18	102	---	---	---	---
SEMA3A	10371	broad.mit.edu	37	7	83636776	83636776	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:83636776T>C	ENST00000265362.4	-	10	1347	c.1033A>G	c.(1033-1035)Atg>Gtg	p.M345V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.M345V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	345	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.M345V(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACATCACTCATGCTATACATA	0.433																																						uc003uhz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)	4						c.(1033-1035)ATG>GTG		semaphorin 3A precursor							137.0	108.0	118.0					7																	83636776		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83636776T>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1033A>G	7.37:g.83636776T>C	ENSP00000265362:p.Met345Val						p.M345V	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			10	1348	-			345			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1033A>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040454	0.75732	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.11495	2.77;2.77	4.84	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.072732	0.85682	D	0.000000	T	0.23611	0.0571	L	0.59436	1.845	0.54753	D	0.999985	P	0.52692	0.955	P	0.58970	0.849	T	0.00484	-1.1712	10	0.66056	D	0.02	.	10.8133	0.46559	0.0:0.0:0.1585:0.8415	.	345	Q14563	SEM3A_HUMAN	V	345	ENSP00000265362:M345V;ENSP00000415260:M345V	ENSP00000265362:M345V	M	-	1	0	SEMA3A	83474712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.153000	0.71819	1.936000	0.56123	0.459000	0.35465	ATG		PASS	0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		20	109	20	109	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86468931	86468931	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:86468931G>T	ENST00000361669.2	+	4	3200	c.2101G>T	c.(2101-2103)Gtg>Ttg	p.V701L	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.V573L|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.V293L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	701					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.V701L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGTGCAAATTGTGATGGTGTC	0.522																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2101-2103)GTG>TTG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						79.0	77.0	78.0					7																	86468931		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468931G>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2101G>T	7.37:g.86468931G>T	ENSP00000355316:p.Val701Leu					GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.V573L|GRM3_uc010leh.2_Missense_Mutation_p.V293L	p.V701L	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	3200	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		701			Helical; Name=4; (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2101G>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	1.869	-0.460704	0.04508	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88201	-2.35;-2.35;-2.35	5.54	5.54	0.83059	GPCR, family 3, C-terminal (2);	0.172050	0.51477	D	0.000100	T	0.77267	0.4105	N	0.10685	0.025	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.13407	0.009;0.003;0.006	T	0.72636	-0.4233	10	0.02654	T	1	.	18.4662	0.90755	0.0:0.0:1.0:0.0	.	293;573;701	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	L	701;293;573	ENSP00000355316:V701L;ENSP00000444064:V293L;ENSP00000441407:V573L	ENSP00000355316:V701L	V	+	1	0	GRM3	86306867	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	2.538000	0.45710	2.603000	0.88011	0.563000	0.77884	GTG		PASS	0.522	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			9	100	9	100	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91630969	91630969	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:91630969G>C	ENST00000359028.2	+	9	1999	c.1774G>C	c.(1774-1776)Gaa>Caa	p.E592Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E592Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E580Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	592	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E592Q(1)|p.E580Q(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCTGCATCTGAATCCAGAAA	0.333			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(1738-1740)GAA>CAA		A-kinase anchor protein 9 isoform 2							66.0	71.0	70.0					7																	91630969		2203	4297	6500	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630969G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1774G>C	7.37:g.91630969G>C	ENSP00000351922:p.Glu592Gln					AKAP9_uc003ule.2_Missense_Mutation_p.E592Q|AKAP9_uc003ulf.2_Missense_Mutation_p.E580Q|AKAP9_uc003uli.2_Missense_Mutation_p.E205Q	p.E580Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1963	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		592			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.1738G>C		.	.	.	.	.	.	.	.	.	.	G	12.49	1.953016	0.34471	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.47528	0.84;0.84;0.84	5.34	5.34	0.76211	.	0.000000	0.40818	N	0.001011	T	0.67202	0.2868	L	0.59436	1.845	0.37919	D	0.931635	D;D;D;D	0.89917	0.985;0.991;1.0;1.0	P;P;D;D	0.79108	0.789;0.895;0.975;0.992	T	0.71487	-0.4578	10	0.72032	D	0.01	.	19.4063	0.94648	0.0:0.0:1.0:0.0	.	592;580;580;592	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Q	580;592;592;592;592	ENSP00000348573:E580Q;ENSP00000351922:E592Q;ENSP00000350813:E592Q	ENSP00000348573:E580Q	E	+	1	0	AKAP9	91468905	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	7.286000	0.78671	2.660000	0.90430	0.655000	0.94253	GAA		PASS	0.333	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		23	147	23	147	---	---	---	---
PON1	5444	broad.mit.edu	37	7	94937332	94937332	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:94937332G>T	ENST00000222381.3	-	6	920	c.689C>A	c.(688-690)cCc>cAc	p.P230H	PON1_ENST00000542556.1_Missense_Mutation_p.P230H	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	230					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.P230H(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CTTGCCATCGGGTGAAATGTT	0.358																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(688-690)CCC>CAC		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)						109.0	93.0	98.0					7																	94937332		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94937332G>T	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.689C>A	7.37:g.94937332G>T	ENSP00000222381:p.Pro230His					PON1_uc011kih.1_Missense_Mutation_p.P230H	p.P230H	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	786	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		230					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.689C>A	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543007	0.65198	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.58060	0.36;0.36	4.8	3.9	0.45041	Six-bladed beta-propeller, TolB-like (1);	0.159149	0.56097	D	0.000022	T	0.76744	0.4030	M	0.92459	3.31	0.43808	D	0.996366	D;D	0.89917	1.0;1.0	D;D	0.75020	0.983;0.985	T	0.82382	-0.0485	10	0.72032	D	0.01	-9.0686	12.5579	0.56265	0.082:0.0:0.918:0.0	.	230;230	F5H4W9;P27169	.;PON1_HUMAN	H	230	ENSP00000222381:P230H;ENSP00000444854:P230H	ENSP00000222381:P230H	P	-	2	0	PON1	94775268	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.943000	0.70211	1.359000	0.45940	0.491000	0.48974	CCC		PASS	0.358	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		15	106	15	106	---	---	---	---
PON1	5444	broad.mit.edu	37	7	94937345	94937345	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:94937345T>A	ENST00000222381.3	-	6	907	c.676A>T	c.(676-678)Atc>Ttc	p.I226F	PON1_ENST00000542556.1_Missense_Mutation_p.I226F	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	226					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.I226F(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GAAATGTTGATTCCATTAGCA	0.383																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(676-678)ATC>TTC		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)						121.0	102.0	109.0					7																	94937345		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94937345T>A	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.676A>T	7.37:g.94937345T>A	ENSP00000222381:p.Ile226Phe					PON1_uc011kih.1_Missense_Mutation_p.I226F	p.I226F	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	773	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		226					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.676A>T	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244439	0.79912	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.63096	-0.02;-0.02	4.95	4.95	0.65309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88394	0.3010	10	0.87932	D	0	-16.3582	15.088	0.72170	0.0:0.0:0.0:1.0	.	226;226	F5H4W9;P27169	.;PON1_HUMAN	F	226	ENSP00000222381:I226F;ENSP00000444854:I226F	ENSP00000222381:I226F	I	-	1	0	PON1	94775281	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	7.326000	0.79133	2.211000	0.71520	0.402000	0.26972	ATC		PASS	0.383	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		16	107	16	107	---	---	---	---
CYP3A4	1576	broad.mit.edu	37	7	99358583	99358583	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:99358583G>T	ENST00000336411.2	-	12	1458	c.1275C>A	c.(1273-1275)gaC>gaA	p.D425E	CYP3A4_ENST00000354593.2_Missense_Mutation_p.D275E	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	425					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.D425E(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GATCTATGTTGTCCTTGTTCT	0.388																																						uc003urv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1273-1275)GAC>GAA		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						393.0	342.0	359.0					7																	99358583		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99358583G>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1275C>A	7.37:g.99358583G>T	ENSP00000337915:p.Asp425Glu					CYP3A4_uc003urw.1_Missense_Mutation_p.D424E|CYP3A4_uc011kiz.1_Missense_Mutation_p.D384E|CYP3A4_uc011kja.1_Missense_Mutation_p.D376E|CYP3A4_uc011kjb.1_Missense_Mutation_p.D275E	p.D425E	NM_017460	NP_059488	P08684	CP3A4_HUMAN			12	1379	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		425					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.1275C>A	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.729078	0.00687	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.67523	-0.27;-0.27	4.47	-0.221	0.13126	.	0.336917	0.34484	N	0.003938	T	0.38931	0.1059	N	0.17345	0.48	0.26881	N	0.967531	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001	T	0.31081	-0.9956	10	0.02654	T	1	.	8.1389	0.31071	0.0:0.3756:0.364:0.2604	.	275;352;425;425;425	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	E	275;425	ENSP00000346607:D275E;ENSP00000337915:D425E	ENSP00000337915:D425E	D	-	3	2	CYP3A4	99196519	0.000000	0.05858	0.962000	0.40283	0.133000	0.20885	-1.370000	0.02575	0.039000	0.15632	0.563000	0.77884	GAC		PASS	0.388	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			49	347	49	347	---	---	---	---
ZSCAN21	7589	broad.mit.edu	37	7	99661526	99661526	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:99661526C>G	ENST00000292450.4	+	4	872	c.708C>G	c.(706-708)agC>agG	p.S236R	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.S236R|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.S236R|ZSCAN21_ENST00000477297.1_Intron	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	236					positive regulation of transcription, DNA-templated (GO:0045893)|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.S236R(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTGAGGCCAGCTTAGAGAGGC	0.463																																						uc003uso.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(706-708)AGC>AGG		zinc finger protein 38							111.0	108.0	109.0					7																	99661526		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99661526C>G	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.708C>G	7.37:g.99661526C>G	ENSP00000292450:p.Ser236Arg					ZSCAN21_uc003usn.1_Missense_Mutation_p.S235R	p.S236R	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	852	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		236					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.708C>G	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.239243	0.01493	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000379635	T;T;T	0.12039	4.4;2.72;4.4	4.79	0.563	0.17296	.	0.320827	0.22676	N	0.057001	T	0.03136	0.0092	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44267	-0.9339	10	0.09843	T	0.71	.	5.4153	0.16370	0.29:0.1533:0.5567:0.0	.	236;236	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	R	236;236;236;211	ENSP00000441212:S236R;ENSP00000292450:S236R;ENSP00000390960:S236R	ENSP00000292450:S236R	S	+	3	2	ZSCAN21	99499462	0.000000	0.05858	0.695000	0.30226	0.436000	0.31835	-1.875000	0.01634	0.214000	0.20742	-0.128000	0.14901	AGC		PASS	0.463	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		5	159	5	159	---	---	---	---
GATS	352954	broad.mit.edu	37	7	99831237	99831237	+	Silent	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:99831237T>C	ENST00000436886.2	-	2	455	c.207A>G	c.(205-207)gaA>gaG	p.E69E	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	69								p.E69E(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTAGGAATCCTTCCTCATCGA	0.517																																						uc003uua.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)GAA>GAG		GATS, stromal antigen 3 opposite strand							209.0	192.0	197.0					7																	99831237		1951	4136	6087	SO:0001819	synonymous_variant	352954							g.chr7:99831237T>C	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.207A>G	7.37:g.99831237T>C						GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc010lgu.2_RNA	p.E69E	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN			2	456	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		69					D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Silent	SNP	ENST00000436886.2	37	c.207A>G	CCDS43621.1																																																																																				PASS	0.517	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831		25	185	25	185	---	---	---	---
COG5	10466	broad.mit.edu	37	7	106938787	106938787	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:106938787C>T	ENST00000347053.3	-	12	1256	c.1206G>A	c.(1204-1206)tcG>tcA	p.S402S	COG5_ENST00000393603.2_Silent_p.S402S|COG5_ENST00000297135.3_Silent_p.S402S	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	402					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.S402S(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCAAAAACATCGAAGCTGCCA	0.318																																						uc003ved.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	central_nervous_system(2)|skin(2)	4						c.(1204-1206)TCG>TCA		component of oligomeric golgi complex 5 isoform							48.0	46.0	47.0					7																	106938787		2203	4300	6503	SO:0001819	synonymous_variant	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106938787C>T	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1206G>A	7.37:g.106938787C>T						COG5_uc003vec.2_Silent_p.S402S|COG5_uc003vee.2_Silent_p.S402S	p.S402S	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			12	1731	-			402					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Silent	SNP	ENST00000347053.3	37	c.1206G>A	CCDS5743.1																																																																																				PASS	0.318	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			19	71	19	71	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120906456	120906456	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:120906456C>T	ENST00000310396.5	+	19	2953	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	829						endoplasmic reticulum (GO:0005783)		p.S829L(1)									ATAAGCCCTTCATTGAGACCA	0.393																																						uc003vjq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2485-2487)TCA>TTA		hypothetical protein LOC79974 isoform 1							167.0	151.0	157.0					7																	120906456		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120906456C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2486C>T	7.37:g.120906456C>T	ENSP00000309772:p.Ser829Leu						p.S829L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			19	2933	+	all_neural(327;0.117)		829					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2486C>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327041	0.60743	.	.	ENSG00000106034	ENST00000310396	T	0.21734	1.99	5.84	5.84	0.93424	.	0.365663	0.23325	N	0.049412	T	0.27798	0.0684	L	0.53249	1.67	0.32616	N	0.523973	P	0.43231	0.801	B	0.43838	0.433	T	0.37753	-0.9692	10	0.87932	D	0	.	14.8102	0.69989	0.1781:0.8219:0.0:0.0	.	829	A4D0V7	CG058_HUMAN	L	829	ENSP00000309772:S829L	ENSP00000309772:S829L	S	+	2	0	C7orf58	120693692	0.414000	0.25408	0.961000	0.40146	0.859000	0.49053	2.158000	0.42329	2.769000	0.95229	0.561000	0.74099	TCA		PASS	0.393	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		40	228	40	228	---	---	---	---
GCC1	79571	broad.mit.edu	37	7	127224785	127224785	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:127224785C>A	ENST00000321407.2	-	1	876	c.452G>T	c.(451-453)gGt>gTt	p.G151V	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	151					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.G151V(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CACCTCCCCACCTGCAAATGG	0.572																																						uc003vma.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(451-453)GGT>GTT		Golgi coiled-coil protein 1							119.0	116.0	117.0					7																	127224785		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224785C>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.452G>T	7.37:g.127224785C>A	ENSP00000318821:p.Gly151Val						p.G151V	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	870	-			151					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.452G>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491321	0.26774	.	.	ENSG00000179562	ENST00000321407	T	0.12147	2.71	5.89	4.05	0.47172	.	0.391760	0.27442	N	0.019356	T	0.08179	0.0204	N	0.16478	0.41	0.58432	D	0.999996	P	0.35077	0.483	B	0.30943	0.122	T	0.32508	-0.9904	10	0.32370	T	0.25	-3.8061	11.1879	0.48669	0.2511:0.6283:0.1205:0.0	.	151	Q96CN9	GCC1_HUMAN	V	151	ENSP00000318821:G151V	ENSP00000318821:G151V	G	-	2	0	GCC1	127012021	0.003000	0.15002	0.382000	0.26119	0.822000	0.46500	1.223000	0.32527	0.376000	0.24707	-0.808000	0.03180	GGT		PASS	0.572	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		29	181	29	181	---	---	---	---
SND1	27044	broad.mit.edu	37	7	127727088	127727088	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:127727088C>T	ENST00000354725.3	+	21	2597	c.2403C>T	c.(2401-2403)atC>atT	p.I801I		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	801					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.I801I(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TCGCCTTCATCCAGGTGCCCC	0.592																																						uc003vmi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2401-2403)ATC>ATT		staphylococcal nuclease domain containing 1							104.0	80.0	88.0					7																	127727088		2203	4300	6503	SO:0001819	synonymous_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127727088C>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2403C>T	7.37:g.127727088C>T						SND1_uc010lle.2_Silent_p.I454I	p.I801I	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			21	2629	+			801					Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.2403C>T	CCDS34747.1																																																																																				PASS	0.592	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		10	57	10	57	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	132193188	132193188	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:132193188C>G	ENST00000359827.3	-	2	1227	c.265G>C	c.(265-267)Gac>Cac	p.D89H	PLXNA4_ENST00000423507.2_Missense_Mutation_p.D89H|PLXNA4_ENST00000378539.5_Missense_Mutation_p.D89H|PLXNA4_ENST00000321063.4_Missense_Mutation_p.D89H			Q9HCM2	PLXA4_HUMAN	plexin A4	89	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.D89H(4)|p.D89Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGTCCTCGTCCGGCCCTGTC	0.552																																						uc003vra.3																			5	Substitution - Missense(5)	p.D89Y(1)	lung(4)|ovary(1)	ovary(1)	1						c.(265-267)GAC>CAC		plexin A4 isoform 1							62.0	63.0	62.0					7																	132193188		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193188C>G	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.265G>C	7.37:g.132193188C>G	ENSP00000352882:p.Asp89His					PLXNA4_uc003vrc.2_Missense_Mutation_p.D89H|PLXNA4_uc003vrb.2_Missense_Mutation_p.D89H	p.D89H	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	494	-			89			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.265G>C	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026241	0.35701	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.42964	U	0.000639	T	0.15435	0.0372	N	0.16567	0.415	0.47737	D	0.999504	P;P;P	0.51537	0.933;0.946;0.783	P;P;P	0.59115	0.77;0.852;0.726	T	0.04976	-1.0914	10	0.39692	T	0.17	.	14.0472	0.64712	0.1509:0.8491:0.0:0.0	.	89;89;89	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	H	89	ENSP00000323194:D89H;ENSP00000352882:D89H;ENSP00000392772:D89H;ENSP00000367800:D89H	ENSP00000323194:D89H	D	-	1	0	PLXNA4	131843728	1.000000	0.71417	0.992000	0.48379	0.218000	0.24690	5.930000	0.70104	2.537000	0.85549	0.462000	0.41574	GAC		PASS	0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	97	8	97	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133812405	133812405	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:133812405G>T	ENST00000285928.2	+	1	354	c.285G>T	c.(283-285)atG>atT	p.M95I	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	95						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.M95I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AGTCCGAAATGCTGAATTTGG	0.642																																						uc003vrm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(283-285)ATG>ATT		leucine-rich repeats and guanylate kinase domain							86.0	81.0	82.0					7																	133812405		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133812405G>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.285G>T	7.37:g.133812405G>T	ENSP00000285928:p.Met95Ile						p.M95I	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	301	+			95					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.285G>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646756	0.29246	.	.	ENSG00000155530	ENST00000285928	T	0.34667	1.35	3.95	3.07	0.35406	.	0.327125	0.27176	N	0.020566	T	0.33644	0.0870	M	0.65975	2.015	0.25700	N	0.985599	B	0.09022	0.002	B	0.08055	0.003	T	0.30707	-0.9969	10	0.54805	T	0.06	-16.3135	7.8082	0.29215	0.1136:0.0:0.8864:0.0	.	95	Q96M69	LRGUK_HUMAN	I	95	ENSP00000285928:M95I	ENSP00000285928:M95I	M	+	3	0	LRGUK	133462945	0.959000	0.32827	0.884000	0.34674	0.513000	0.34164	1.603000	0.36794	1.244000	0.43870	-0.150000	0.13652	ATG		PASS	0.642	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		11	51	11	51	---	---	---	---
TMEM140	55281	broad.mit.edu	37	7	134849576	134849576	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:134849576C>T	ENST00000275767.3	+	2	606	c.383C>T	c.(382-384)gCa>gTa	p.A128V	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	128						integral component of membrane (GO:0016021)		p.A128V(1)		kidney(1)|large_intestine(2)|lung(2)	5						GTGCTGCTGGCAGGCGGCCTG	0.652																																						uc003vsi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(382-384)GCA>GTA		transmembrane protein 140							38.0	37.0	38.0					7																	134849576		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849576C>T	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.383C>T	7.37:g.134849576C>T	ENSP00000275767:p.Ala128Val					C7orf49_uc003vsh.2_Intron	p.A128V	NM_018295	NP_060765	Q9NV12	TM140_HUMAN			2	664	+			128			Helical; (Potential).		A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.383C>T	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296938	0.40594	.	.	ENSG00000146859	ENST00000275767	T	0.25250	1.81	5.28	4.33	0.51752	.	0.386077	0.22457	N	0.059818	T	0.29321	0.0730	M	0.67953	2.075	0.26505	N	0.974698	P	0.42296	0.775	B	0.41412	0.356	T	0.27606	-1.0069	10	0.62326	D	0.03	-15.6072	10.6578	0.45686	0.0:0.9007:0.0:0.0993	.	128	Q9NV12	TM140_HUMAN	V	128	ENSP00000275767:A128V	ENSP00000275767:A128V	A	+	2	0	TMEM140	134500116	0.891000	0.30450	0.947000	0.38551	0.002000	0.02628	1.980000	0.40618	2.746000	0.94184	0.655000	0.94253	GCA		PASS	0.652	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		8	46	8	46	---	---	---	---
OR6V1	346517	broad.mit.edu	37	7	142749826	142749826	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:142749826A>T	ENST00000418316.1	+	1	410	c.389A>T	c.(388-390)tAt>tTt	p.Y130F		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y130F(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCACTGCGCTATGGCACTCTG	0.592																																						uc011ksv.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(388-390)TAT>TTT		olfactory receptor, family 6, subfamily V,							84.0	89.0	87.0					7																	142749826		2168	4278	6446	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749826A>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.389A>T	7.37:g.142749826A>T	ENSP00000396085:p.Tyr130Phe						p.Y130F	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	389	+	Melanoma(164;0.059)		130			Cytoplasmic (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.389A>T	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361332	0.82353	.	.	ENSG00000225781	ENST00000418316	T	0.30714	1.52	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.69441	0.3111	H	0.98682	4.3	0.33853	D	0.632851	D	0.89917	1.0	D	0.85130	0.997	D	0.84650	0.0700	9	0.87932	D	0	.	11.4555	0.50179	1.0:0.0:0.0:0.0	.	130	Q8N148	OR6V1_HUMAN	F	130	ENSP00000396085:Y130F	ENSP00000396085:Y130F	Y	+	2	0	OR6V1	142459948	0.999000	0.42202	0.590000	0.28732	0.969000	0.65631	4.387000	0.59626	1.801000	0.52704	0.533000	0.62120	TAT		PASS	0.592	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			38	172	38	172	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148802388	148802388	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:148802388C>A	ENST00000378061.2	-	4	707	c.575G>T	c.(574-576)tGc>tTc	p.C192F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	192					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C192F(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACAGACATAGCAGGAATAGCA	0.498																																						uc003wfj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(574-576)TGC>TTC		zinc finger protein 425							57.0	57.0	57.0					7																	148802388		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802388C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.575G>T	7.37:g.148802388C>A	ENSP00000367300:p.Cys192Phe						p.C192F	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	648	-	Melanoma(164;0.15)		192			C2H2-type 1.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.575G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036591	0.54896	.	.	ENSG00000204947	ENST00000378061	T	0.10668	2.85	2.89	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40372	0.1114	M	0.92077	3.27	0.30111	N	0.806571	D	0.89917	1.0	D	0.91635	0.999	T	0.45175	-0.9279	9	0.87932	D	0	.	11.555	0.50741	0.0:1.0:0.0:0.0	.	192	Q6IV72	ZN425_HUMAN	F	192	ENSP00000367300:C192F	ENSP00000367300:C192F	C	-	2	0	ZNF425	148433321	0.831000	0.29352	0.017000	0.16124	0.107000	0.19398	1.947000	0.40293	1.627000	0.50400	0.655000	0.94253	TGC		PASS	0.498	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		16	120	16	120	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158455040	158455040	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr7:158455040G>A	ENST00000409423.1	-	17	2007	c.1835C>T	c.(1834-1836)tCa>tTa	p.S612L	NCAPG2_ENST00000356309.3_Missense_Mutation_p.S612L|NCAPG2_ENST00000409339.3_Missense_Mutation_p.S612L|NCAPG2_ENST00000275830.10_Missense_Mutation_p.S404L|NCAPG2_ENST00000541468.1_Missense_Mutation_p.S113L|NCAPG2_ENST00000449727.2_Missense_Mutation_p.S612L	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	612					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.S612L(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)		ATCGTTTACTGACAGTGTTTT	0.338																																						uc003wnv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(1834-1836)TCA>TTA		leucine zipper protein 5							76.0	73.0	74.0					7																	158455040		1827	4087	5914	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158455040G>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.1835C>T	7.37:g.158455040G>A	ENSP00000386569:p.Ser612Leu					NCAPG2_uc010lqu.1_Missense_Mutation_p.S404L|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.S612L|NCAPG2_uc011kwe.1_Missense_Mutation_p.S612L|NCAPG2_uc011kwc.1_Missense_Mutation_p.S113L|NCAPG2_uc011kwd.1_Intron	p.S612L	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)	16	1980	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	612					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.1835C>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.44|15.44	2.835023|2.835023	0.50951|0.50951	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000441982|ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	.|T;T;T;T;T;T	.|0.34275	.|1.38;1.38;1.38;1.4;1.37;1.37	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.316936	.|0.34178	.|N	.|0.004184	.|T	.|0.56441	.|0.1985	L|L	0.47190|0.47190	1.495|1.495	0.49915|0.49915	D|D	0.999835|0.999835	.|P;D;B	.|0.76494	.|0.547;0.999;0.412	.|B;D;B	.|0.80764	.|0.175;0.994;0.084	.|T	.|0.41052	.|-0.9530	.|10	.|0.38643	.|T	.|0.18	-21.0881|-21.0881	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|612;404;612	.|Q86XI2-2;E7EUH9;Q86XI2	.|.;.;CNDG2_HUMAN	X|L	414|113;612;612;404;612;612	.|ENSP00000442337:S113L;ENSP00000348657:S612L;ENSP00000386569:S612L;ENSP00000275830:S404L;ENSP00000387007:S612L;ENSP00000388326:S612L	.|ENSP00000275830:S404L	Q|S	-|-	1|2	0|0	NCAPG2|NCAPG2	158147801|158147801	1.000000|1.000000	0.71417|0.71417	0.467000|0.467000	0.27180|0.27180	0.046000|0.046000	0.14306|0.14306	6.502000|6.502000	0.73695|0.73695	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.338	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		16	114	16	114	---	---	---	---
MFHAS1	9258	broad.mit.edu	37	8	8750069	8750069	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:8750069A>G	ENST00000276282.6	-	1	1086	c.500T>C	c.(499-501)tTt>tCt	p.F167S		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	167								p.F167S(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGCCGGTTAAAGCTGACATC	0.677																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)TTT>TCT		malignant fibrous histiocytoma amplified							22.0	30.0	27.0					8																	8750069		2193	4293	6486	SO:0001583	missense	9258							g.chr8:8750069A>G	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.500T>C	8.37:g.8750069A>G	ENSP00000276282:p.Phe167Ser						p.F167S	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1063	-		Hepatocellular(245;0.217)	167			LRR 5.		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.500T>C	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.332157	0.41297	.	.	ENSG00000147324	ENST00000276282	T	0.20463	2.07	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.21427	0.0516	N	0.02876	-0.465	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.39583	-0.9607	10	0.20519	T	0.43	.	14.4014	0.67050	1.0:0.0:0.0:0.0	.	167	Q9Y4C4	MFHA1_HUMAN	S	167	ENSP00000276282:F167S	ENSP00000276282:F167S	F	-	2	0	MFHAS1	8787479	1.000000	0.71417	0.991000	0.47740	0.213000	0.24496	4.978000	0.63799	1.988000	0.58038	0.460000	0.39030	TTT		PASS	0.677	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		3	15	3	15	---	---	---	---
MTMR9	66036	broad.mit.edu	37	8	11167123	11167123	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:11167123G>A	ENST00000221086.3	+	6	1370	c.897G>A	c.(895-897)ttG>ttA	p.L299L	MTMR9_ENST00000526292.1_Silent_p.L214L	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	299	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)	p.L299L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCAGTAAATTGGAGGCCTCTA	0.443																																						uc003wtm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(895-897)TTG>TTA		myotubularin related protein 9							96.0	91.0	92.0					8																	11167123		2203	4300	6503	SO:0001819	synonymous_variant	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11167123G>A	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.897G>A	8.37:g.11167123G>A						MTMR9_uc010lrx.2_Silent_p.L192L|MTMR9_uc011kxa.1_Silent_p.L214L	p.L299L	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	6	1295	+			299			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	ENST00000221086.3	37	c.897G>A	CCDS5979.1																																																																																				PASS	0.443	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		14	90	14	90	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39606913	39606913	+	Nonsense_Mutation	SNP	G	G	T	rs537727810	byFrequency	TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:39606913G>T	ENST00000265708.4	-	18	2035	c.1932C>A	c.(1930-1932)tgC>tgA	p.C644*	ADAM2_ENST00000347580.4_Nonsense_Mutation_p.C625*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.C488*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.C581*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	644	EGF-like.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C644*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATTGAACTGAGCAATCTGGAG	0.383																																						uc003xnj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1930-1932)TGC>TGA		ADAM metallopeptidase domain 2 proprotein							108.0	107.0	107.0					8																	39606913		2203	4300	6503	SO:0001587	stop_gained	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39606913G>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1932C>A	8.37:g.39606913G>T	ENSP00000265708:p.Cys644*					ADAM2_uc003xnk.2_Nonsense_Mutation_p.C625*|ADAM2_uc011lck.1_Nonsense_Mutation_p.C581*|ADAM2_uc003xnl.2_Nonsense_Mutation_p.C488*	p.C644*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	18	2007	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	644			Extracellular (Potential).|EGF-like.		P78326|Q9UQQ8	Nonsense_Mutation	SNP	ENST00000265708.4	37	c.1932C>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212519	0.58452	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	.	.	.	3.65	-0.36	0.12568	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3229	0.21227	0.5018:0.0:0.4982:0.0	.	.	.	.	X	625;488;644;581	.	ENSP00000265708:C644X	C	-	3	2	ADAM2	39726070	0.003000	0.15002	0.007000	0.13788	0.005000	0.04900	-0.336000	0.07863	-0.089000	0.12484	-0.140000	0.14226	TGC		PASS	0.383	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		10	187	10	187	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798770	41798770	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:41798770C>A	ENST00000396930.3	-	16	3172	c.2629G>T	c.(2629-2631)Gaa>Taa	p.E877*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.E877*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.E877*	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	877					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E877*(1)									CCAAAACGTTCCTGGGTTTTT	0.483																																						uc010lxb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2629-2631)GAA>TAA		MYST histone acetyltransferase (monocytic							96.0	92.0	93.0					8																	41798770		2203	4300	6503	SO:0001587	stop_gained	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798770C>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2629G>T	8.37:g.41798770C>A	ENSP00000380136:p.Glu877*					MYST3_uc010lxc.2_Nonsense_Mutation_p.E877*|MYST3_uc003xon.3_Nonsense_Mutation_p.E877*	p.E877*	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		16	3173	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	877					Q76L81	Nonsense_Mutation	SNP	ENST00000396930.3	37	c.2629G>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	43	10.016261	0.99318	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	.	.	.	5.56	5.56	0.83823	.	0.456053	0.22183	N	0.063461	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-4.3609	17.7165	0.88338	0.0:1.0:0.0:0.0	.	.	.	.	X	877;877;877;457	.	ENSP00000265713:E877X	E	-	1	0	KAT6A	41917927	0.989000	0.36119	0.982000	0.44146	0.448000	0.32197	5.038000	0.64177	2.609000	0.88269	0.655000	0.94253	GAA		PASS	0.483	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		13	108	13	108	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43152602	43152602	+	RNA	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:43152602G>T	ENST00000522175.2	+	0	590							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.K196N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAAAAACAAGGTACAGATCT	0.338																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(586-588)AAG>AAT		POTE ankyrin domain family, member A isoform 2							61.0	59.0	60.0					8																	43152602		2149	4275	6424			340441							g.chr8:43152602G>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152602G>T						POTEA_uc003xqa.1_Missense_Mutation_p.K196N	p.K196N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			3	631	+			196					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.588G>T																																																																																					PASS	0.338	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		6	93	6	93	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321575	52321575	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:52321575G>C	ENST00000356297.4	-	17	2709	c.2609C>G	c.(2608-2610)gCc>gGc	p.A870G	PXDNL_ENST00000543296.1_Missense_Mutation_p.A870G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	870					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A870G(1)|p.A69G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACGGCCGCTGGCACACGCGGG	0.647																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2608-2610)GCC>GGC		peroxidasin homolog-like precursor							26.0	30.0	29.0					8																	52321575		2012	4155	6167	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321575G>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2609C>G	8.37:g.52321575G>C	ENSP00000348645:p.Ala870Gly					PXDNL_uc003xqt.3_RNA	p.A870G	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2710	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	870					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2609C>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.176353	0.00312	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69685	-0.42;-0.42	3.55	0.637	0.17735	.	0.246522	0.28290	N	0.015892	T	0.12774	0.0310	N	0.00010	-3.045	0.25564	N	0.986968	B	0.06786	0.001	B	0.01281	0.0	T	0.49021	-0.8982	10	0.02654	T	1	.	5.0973	0.14740	0.0:0.6015:0.1812:0.2172	.	870	A1KZ92	PXDNL_HUMAN	G	870	ENSP00000348645:A870G;ENSP00000444865:A870G	ENSP00000348645:A870G	A	-	2	0	PXDNL	52484128	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	3.198000	0.51035	-0.126000	0.11682	-0.884000	0.02946	GCC		PASS	0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		3	36	3	36	---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62212755	62212755	+	Missense_Mutation	SNP	C	C	G	rs200541190		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:62212755C>G	ENST00000519846.1	+	3	841	c.369C>G	c.(367-369)atC>atG	p.I123M	CLVS1_ENST00000325897.4_Missense_Mutation_p.I123M|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	123	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.I123M(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGGCTCTGATCGATGGGTTCC	0.488																																						uc003xuh.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(367-369)ATC>ATG		retinaldehyde binding protein 1-like 1							49.0	51.0	50.0					8																	62212755		2203	4299	6502	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212755C>G	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.369C>G	8.37:g.62212755C>G	ENSP00000428402:p.Ile123Met					CLVS1_uc003xug.2_Missense_Mutation_p.I123M|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.I123M	p.I123M	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			2	693	+			123			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.369C>G	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347402	0.24426	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.84146	-1.81;-1.81	5.6	-4.87	0.03123	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.208186	0.49916	D	0.000138	T	0.63462	0.2513	N	0.08118	0	0.30230	N	0.795974	B;B	0.18610	0.008;0.029	B;B	0.22753	0.005;0.041	T	0.54153	-0.8336	9	.	.	.	-6.1582	10.2216	0.43201	0.0:0.5073:0.0999:0.3927	.	123;123	Q8IUQ0;Q8IUQ0-2	CLVS1_HUMAN;.	M	123	ENSP00000428402:I123M;ENSP00000325506:I123M	.	I	+	3	3	CLVS1	62375309	0.002000	0.14202	0.914000	0.36105	0.731000	0.41821	-1.887000	0.01617	-0.833000	0.04245	-0.345000	0.07892	ATC		PASS	0.488	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		28	75	28	75	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68968096	68968096	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:68968096G>T	ENST00000288368.4	+	10	1402	c.1125G>T	c.(1123-1125)tgG>tgT	p.W375C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	375					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.W375C(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGATACCTGGGTCATGATCT	0.358																																						uc003xxv.1																			2	Substitution - Missense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(1123-1125)TGG>TGT		DEP domain containing 2 isoform a							80.0	88.0	85.0					8																	68968096		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68968096G>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1125G>T	8.37:g.68968096G>T	ENSP00000288368:p.Trp375Cys					PREX2_uc003xxu.1_Missense_Mutation_p.W375C|PREX2_uc011lez.1_Missense_Mutation_p.W310C	p.W375C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			10	1152	+			375					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1125G>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208778	0.79240	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.59638	0.25	5.54	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.997	D;P;D	0.68765	0.96;0.848;0.927	T	0.73563	-0.3943	10	0.56958	D	0.05	.	14.6491	0.68784	0.0699:0.0:0.9301:0.0	.	375;375;375	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	C	375	ENSP00000288368:W375C	ENSP00000288368:W375C	W	+	3	0	PREX2	69130650	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.621000	0.74228	1.483000	0.48342	0.655000	0.94253	TGG		PASS	0.358	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		57	109	57	109	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618685	77618685	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:77618685A>T	ENST00000521891.2	+	2	2810	c.2362A>T	c.(2362-2364)Agc>Tgc	p.S788C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S788C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S788C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S788C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	788					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S788C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCATATGACCAGCGAAAAGCA	0.493										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2362-2364)AGC>TGC		zinc finger homeodomain 4							31.0	34.0	33.0					8																	77618685		2069	4245	6314	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618685A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2362A>T	8.37:g.77618685A>T	ENSP00000430497:p.Ser788Cys	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.S788C|ZFHX4_uc003yau.1_Missense_Mutation_p.S788C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S788C	p.S788C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2749	+			788			C2H2-type 4; degenerate.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2362A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	14.18	2.458949	0.43634	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.91	4.91	0.64330	Zinc finger, C2H2-like (1);	0.000000	0.50627	U	0.000103	T	0.75027	0.3794	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.97110	0.99;0.995;0.995;1.0	T	0.80139	-0.1507	10	0.87932	D	0	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	788;788;788;788	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	C	788	ENSP00000430497:S788C;ENSP00000399605:S788C;ENSP00000050961:S788C;ENSP00000430848:S788C	ENSP00000050961:S788C	S	+	1	0	ZFHX4	77781240	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.087000	0.94110	2.179000	0.69175	0.477000	0.44152	AGC		PASS	0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	35	3	35	---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95751682	95751682	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:95751682A>T	ENST00000414645.2	+	5	484	c.385A>T	c.(385-387)Aag>Tag	p.K129*		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	129						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.K129*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGTATCTCTGAAGACTATAAA	0.348																																						uc003ygx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(385-387)AAG>TAG		dpy-19-like 4							106.0	105.0	105.0					8																	95751682		2203	4300	6503	SO:0001587	stop_gained	286148					integral to membrane		g.chr8:95751682A>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.385A>T	8.37:g.95751682A>T	ENSP00000389630:p.Lys129*					DPY19L4_uc003ygy.2_Nonsense_Mutation_p.K66*	p.K129*	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			5	509	+	Breast(36;3.85e-06)		129					Q6ZW32|Q6ZW42|Q7Z329	Nonsense_Mutation	SNP	ENST00000414645.2	37	c.385A>T	CCDS34924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.634488|5.634488	0.96682|0.96682	.|.	.|.	ENSG00000156162|ENSG00000156162	ENST00000519353|ENST00000522422;ENST00000414645;ENST00000519176	.|.	.|.	.|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.048936	.|0.85682	.|D	.|0.000000	T|.	0.43875|.	0.1267|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43065|.	-0.9414|.	3|.	.|0.02654	.|T	.|1	-13.0831|-13.0831	16.4696|16.4696	0.84102|0.84102	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	60|57;129;100	.|.	.|ENSP00000389630:K129X	E|K	+|+	2|1	0|0	DPY19L4|DPY19L4	95820858|95820858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.071000|3.071000	0.50041|0.50041	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	GAA|AAG		PASS	0.348	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		59	130	59	130	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898074	104898074	+	Missense_Mutation	SNP	G	G	T	rs199608093		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:104898074G>T	ENST00000436393.2	+	2	822	c.581G>T	c.(580-582)cGa>cTa	p.R194L	RIMS2_ENST00000262231.10_Missense_Mutation_p.R224L|RIMS2_ENST00000406091.3_Missense_Mutation_p.R416L|RIMS2_ENST00000507740.1_Missense_Mutation_p.R224L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	447					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R224L(2)|p.R452L(1)|p.R416L(1)|p.R194L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAAAGAACTCGAGAGGCTCAG	0.463										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(580-582)CGA>CTA		regulating synaptic membrane exocytosis 2							73.0	70.0	71.0					8																	104898074		1919	4133	6052	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898074G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.581G>T	8.37:g.104898074G>T	ENSP00000390665:p.Arg194Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.R416L|RIMS2_uc003ylw.2_Missense_Mutation_p.R224L|RIMS2_uc003ylq.2_Missense_Mutation_p.R224L|RIMS2_uc003ylr.2_Missense_Mutation_p.R224L	p.R194L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	822	+			447					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.581G>T		.	.	.	.	.	.	.	.	.	.	G	18.05	3.536118	0.64972	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.65	5.65	0.86999	.	.	.	.	.	T	0.47600	0.1454	L	0.36672	1.1	0.80722	D	1	P;B;P;D;P	0.63046	0.673;0.427;0.882;0.992;0.932	B;B;P;P;P	0.57720	0.153;0.317;0.62;0.826;0.553	T	0.34079	-0.9843	9	0.48119	T	0.1	.	18.7115	0.91658	0.0:0.0:1.0:0.0	.	447;194;224;224;416	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	416;447;416;447;224;224;224;224;194	ENSP00000427018:R416L;ENSP00000384892:R416L;ENSP00000425205:R224L;ENSP00000262231:R224L;ENSP00000423559:R224L;ENSP00000386228:R224L;ENSP00000390665:R194L	ENSP00000262231:R224L	R	+	2	0	RIMS2	104967250	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.918000	0.56432	2.653000	0.90120	0.563000	0.77884	CGA		PASS	0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		30	84	30	84	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110477264	110477264	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:110477264G>T	ENST00000378402.5	+	49	8307	c.8203G>T	c.(8203-8205)Ggc>Tgc	p.G2735C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2735					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G2737C(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)			ATTTAGTGAAGGCTTGACTGT	0.458										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.(8203-8205)GGC>TGC		fibrocystin L precursor							169.0	171.0	170.0					8																	110477264		1931	4135	6066	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477264G>T	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.8203G>T	8.37:g.110477264G>T	ENSP00000367655:p.Gly2735Cys	HNSCC(38;0.096)					p.G2735C	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8307	+			2735			Extracellular (Potential).|PbH1 4.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8203G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181446	0.78677	.	.	ENSG00000205038	ENST00000378402	D	0.87729	-2.29	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.92821	0.7717	M	0.71581	2.175	0.53688	D	0.999975	D	0.69078	0.997	D	0.73708	0.981	D	0.91695	0.5369	10	0.42905	T	0.14	.	17.8946	0.88883	0.0:0.0:1.0:0.0	.	2735	Q86WI1	PKHL1_HUMAN	C	2735	ENSP00000367655:G2735C	ENSP00000367655:G2735C	G	+	1	0	PKHD1L1	110546440	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.378000	0.90144	2.826000	0.97356	0.655000	0.94253	GGC		PASS	0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		61	196	61	196	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113323290	113323290	+	Missense_Mutation	SNP	C	C	T	rs564995042		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:113323290C>T	ENST00000297405.5	-	50	8046	c.7802G>A	c.(7801-7803)cGa>cAa	p.R2601Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2561Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2497Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2531Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2601	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2601Q(1)|p.R2561Q(1)|p.R2601L(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						TCCAACAAGTCGGAATCCTCG	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		16731	0.0		0.0	False		,,,				2504	0.0					uc003ynu.2																			3	Substitution - Missense(3)	p.R2601L(1)	lung(2)|ovary(1)	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.(7801-7803)CGA>CAA		CUB and Sushi multiple domains 3 isoform 1							164.0	134.0	144.0					8																	113323290		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113323290C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7802G>A	8.37:g.113323290C>T	ENSP00000297405:p.Arg2601Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R1803Q|CSMD3_uc003ynt.2_Missense_Mutation_p.R2561Q|CSMD3_uc011lhx.1_Missense_Mutation_p.R2497Q|CSMD3_uc003ynw.1_Missense_Mutation_p.R312Q	p.R2601Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			50	7961	-			2601			Extracellular (Potential).|Sushi 14.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7802G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002255	0.93227	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.62	5.62	0.85841	Complement control module (2);Sushi/SCR/CCP (3);	0.199696	0.28273	N	0.015950	T	0.76716	0.4026	L	0.52823	1.66	0.45015	D	0.998036	D;D;D	0.89917	0.967;0.973;1.0	B;P;D	0.76575	0.388;0.523;0.988	T	0.75243	-0.3386	10	0.46703	T	0.11	.	19.6449	0.95773	0.0:1.0:0.0:0.0	.	2497;2601;2561	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2561;2601;1871;2497;2531	ENSP00000345799:R2561Q;ENSP00000297405:R2601Q;ENSP00000341558:R1871Q;ENSP00000412263:R2497Q;ENSP00000343124:R2531Q	ENSP00000297405:R2601Q	R	-	2	0	CSMD3	113392466	1.000000	0.71417	0.997000	0.53966	0.780000	0.44128	3.338000	0.52128	2.628000	0.89032	0.655000	0.94253	CGA		PASS	0.493	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	154	8	154	---	---	---	---
C8orf76	84933	broad.mit.edu	37	8	124253547	124253547	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:124253547C>G	ENST00000276704.4	-	1	91	c.40G>C	c.(40-42)Gac>Cac	p.D14H	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	14								p.D14H(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AACACCGAGTCCTCGAACTCG	0.711																																						uc003yqc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(40-42)GAC>CAC		hypothetical protein LOC84933							11.0	13.0	12.0					8																	124253547		2165	4264	6429	SO:0001583	missense	84933						binding	g.chr8:124253547C>G	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.40G>C	8.37:g.124253547C>G	ENSP00000276704:p.Asp14His					C8orf76_uc003yqd.2_Intron	p.D14H	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	71	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		14					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.40G>C	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350694	0.95830	.	.	ENSG00000189376	ENST00000276704	T	0.23552	1.9	5.68	5.68	0.88126	.	0.046928	0.85682	D	0.000000	T	0.52805	0.1757	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54377	-0.8303	10	0.87932	D	0	4.1247	16.5024	0.84261	0.0:1.0:0.0:0.0	.	14	Q96K31	CH076_HUMAN	H	14	ENSP00000276704:D14H	ENSP00000276704:D14H	D	-	1	0	C8orf76	124322728	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.058000	0.57463	2.687000	0.91594	0.561000	0.74099	GAC		PASS	0.711	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		3	28	3	28	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133044247	133044247	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:133044247C>T	ENST00000443356.2	-	13	1046	c.960G>A	c.(958-960)gtG>gtA	p.V320V	OC90_ENST00000262283.5_Silent_p.V516V|OC90_ENST00000603859.1_Silent_p.V304V|OC90_ENST00000254627.3_Silent_p.V304V			Q02509	OC90_HUMAN	otoconin 90	320					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.V516V(1)|p.V278V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCTGTGGCATCACCTGCATGT	0.537																																						uc003ytg.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(910-912)GTG>GTA		otoconin 90							125.0	122.0	123.0					8																	133044247		2071	4222	6293	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133044247C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.960G>A	8.37:g.133044247C>T						OC90_uc011lix.1_Silent_p.V304V	p.V304V	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		11	912	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		320					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.912G>A																																																																																					PASS	0.537	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		8	181	8	181	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139601598	139601598	+	Silent	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:139601598A>T	ENST00000303045.6	-	65	5225	c.4779T>A	c.(4777-4779)ccT>ccA	p.P1593P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P1573P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1593	Collagen-like 16.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1593P(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGGAGGCCAGGATGTCCAG	0.637										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4777-4779)CCT>CCA		collagen, type XXII, alpha 1							51.0	46.0	48.0					8																	139601598		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601598A>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4779T>A	8.37:g.139601598A>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.P873P	p.P1593P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5226	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1593			Pro-rich.|Gly-rich.|Collagen-like 16.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.4779T>A	CCDS6376.1																																																																																				PASS	0.637	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		5	47	5	47	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139610962	139610962	+	Splice_Site	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:139610962C>A	ENST00000303045.6	-	61	4811	c.4365G>T	c.(4363-4365)agG>agT	p.R1455S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.R1435S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1455	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1455S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCATCCTTACCCTCAGTCCTG	0.607										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4363-4365)AGG>AGT		collagen, type XXII, alpha 1							59.0	65.0	63.0					8																	139610962		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139610962C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4365+1G>T	8.37:g.139610962C>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.R735S	p.R1455S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4812	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1455			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4365G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045344	0.55110	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94232	-3.38;-3.38	5.48	5.48	0.80851	.	0.000000	0.46442	U	0.000289	D	0.94794	0.8319	L	0.38692	1.165	0.54753	D	0.999988	P;D	0.89917	0.876;1.0	P;D	0.87578	0.86;0.998	D	0.93942	0.7224	9	.	.	.	.	18.3373	0.90293	0.0:1.0:0.0:0.0	.	1435;1455	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1455;1435;1148	ENSP00000303153:R1455S;ENSP00000387655:R1435S	.	R	-	3	2	COL22A1	139680144	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.038000	0.49783	2.569000	0.86673	0.555000	0.69702	AGG		PASS	0.607	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	4	162	4	162	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139629157	139629157	+	Splice_Site	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:139629157C>T	ENST00000303045.6	-	54	4316	c.3870G>A	c.(3868-3870)cgG>cgA	p.R1290R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.R1270R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1290	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1290R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCCACTTACCCGGGGACCGG	0.572										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3868-3870)CGG>CGA		collagen, type XXII, alpha 1							62.0	63.0	63.0					8																	139629157		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139629157C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3870+1G>A	8.37:g.139629157C>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.R570R	p.R1290R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		54	4317	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1290			Pro-rich.|Gly-rich.|Collagen-like 12.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3870G>A	CCDS6376.1																																																																																				PASS	0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Silent	40	81	40	81	---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141370151	141370151	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:141370151T>C	ENST00000438773.2	-	9	1626	c.1493A>G	c.(1492-1494)cAg>cGg	p.Q498R	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.Q489R|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.Q596R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	498					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.Q596R(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						TCACTCACCCTGATCCGACAA	0.498																																						uc003yvj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1492-1494)CAG>CGG		trafficking protein particle complex 9 isoform							103.0	93.0	97.0					8																	141370151		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141370151T>C	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.1493A>G	8.37:g.141370151T>C	ENSP00000405060:p.Gln498Arg					TRAPPC9_uc003yvh.2_Missense_Mutation_p.Q596R|TRAPPC9_uc003yvi.1_Missense_Mutation_p.Q489R	p.Q498R	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			9	1627	-			498					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1493A>G	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430541	0.62844	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	L	0.47716	1.5	0.51482	D	0.999929	D;D;D	0.64830	0.994;0.979;0.985	P;P;P	0.60117	0.869;0.514;0.732	T	0.59841	-0.7378	9	0.18276	T	0.48	.	14.9072	0.70730	0.0:0.0:0.0:1.0	.	498;489;596	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	R	596;489;498	.	ENSP00000373978:Q489R	Q	-	2	0	TRAPPC9	141439333	1.000000	0.71417	0.974000	0.42286	0.817000	0.46193	7.803000	0.85983	1.936000	0.56123	0.533000	0.62120	CAG		PASS	0.498	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		55	84	55	84	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145151528	145151528	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:145151528A>T	ENST00000318911.4	+	5	726	c.653A>T	c.(652-654)tAc>tTc	p.Y218F	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	218					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.Y218F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCACGGGCTACTGCGAGCCA	0.587											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zaz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)TAC>TTC		cytochrome c-1							96.0	81.0	86.0					8																	145151528		2203	4300	6503	SO:0001583	missense	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151528A>T	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.653A>T	8.37:g.145151528A>T	ENSP00000317159:p.Tyr218Phe		OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692	CYC1_uc003zay.2_Missense_Mutation_p.Y159F	p.Y218F	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	696	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		218					Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.653A>T	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311715	0.81358	.	.	ENSG00000179091	ENST00000318911	T	0.39056	1.1	5.1	5.1	0.69264	Cytochrome c domain (2);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68161	-0.5482	10	0.87932	D	0	-17.0362	12.8434	0.57815	1.0:0.0:0.0:0.0	.	218	P08574	CY1_HUMAN	F	218	ENSP00000317159:Y218F	ENSP00000317159:Y218F	Y	+	2	0	CYC1	145223516	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	5.800000	0.69108	1.928000	0.55862	0.454000	0.30748	TAC		PASS	0.587	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		7	152	7	152	---	---	---	---
KIFC2	90990	broad.mit.edu	37	8	145698044	145698044	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr8:145698044C>T	ENST00000301332.2	+	16	2193	c.1816C>T	c.(1816-1818)Ctg>Ttg	p.L606L	KIFC2_ENST00000301331.5_Intron|KIFC2_ENST00000531423.1_3'UTR|FOXH1_ENST00000525197.1_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	606	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L606L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTGGTCACGCTGACGCTGCG	0.731																																						uc003zcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1816-1818)CTG>TTG		kinesin family member C2							12.0	15.0	14.0					8																	145698044		2176	4243	6419	SO:0001819	synonymous_variant	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145698044C>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1816C>T	8.37:g.145698044C>T						KIFC2_uc003zda.2_5'UTR	p.L606L	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		16	1881	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		606			Kinesin-motor.		E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	c.1816C>T	CCDS6427.1																																																																																				PASS	0.731	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		13	29	13	29	---	---	---	---
IFNB1	3456	broad.mit.edu	37	9	21077471	21077471	+	Missense_Mutation	SNP	G	G	A	rs189255883		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr9:21077471G>A	ENST00000380232.2	-	1	472	c.398C>T	c.(397-399)aCc>aTc	p.T133I		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	133					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.T133I(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		TTTTCCCCTGGTGAAATCTTC	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18444	0.0		0.0	False		,,,				2504	0.0					uc003zok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(397-399)ACC>ATC		interferon, beta 1, fibroblast precursor	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						187.0	193.0	191.0					9																	21077471		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077471G>A		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.398C>T	9.37:g.21077471G>A	ENSP00000369581:p.Thr133Ile						p.T133I	NM_002176	NP_002167	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	473	-			133					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.398C>T	CCDS6495.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.43	2.534507	0.45073	.	.	ENSG00000171855	ENST00000380232	T	0.03524	3.9	5.42	0.369	0.16151	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.156200	0.06541	N	0.743186	T	0.11196	0.0273	M	0.73430	2.235	0.09310	N	1	D	0.52996	0.957	P	0.54431	0.752	T	0.21793	-1.0235	10	0.87932	D	0	-1.2852	5.2903	0.15723	0.2323:0.2768:0.4909:0.0	.	133	P01574	IFNB_HUMAN	I	133	ENSP00000369581:T133I	ENSP00000369581:T133I	T	-	2	0	IFNB1	21067471	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.057000	0.11768	-0.082000	0.12640	-0.145000	0.13849	ACC		PASS	0.438	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		57	301	57	301	---	---	---	---
FXN	2395	broad.mit.edu	37	9	71687670	71687670	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr9:71687670G>C	ENST00000377270.3	+	5	1149	c.625G>C	c.(625-627)Gat>Cat	p.D209H	FXN_ENST00000396364.3_Intron|FXN_ENST00000498653.1_Missense_Mutation_p.D134H|FXN_ENST00000396366.2_3'UTR	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	209					adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)	p.D209H(1)		large_intestine(1)|lung(1)	2						TTCCGGAAAAGATGCTTGATG	0.498																																						uc004aha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)GAT>CAT		frataxin isoform 1 preproprotein							89.0	84.0	86.0					9																	71687670		2203	4300	6503	SO:0001583	missense	2395				cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding	g.chr9:71687670G>C	U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"""Friedreich ataxia"""	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.625G>C	9.37:g.71687670G>C	ENSP00000366482:p.Asp209His					FXN_uc011lrr.1_Intron|FXN_uc004agz.2_3'UTR	p.D209H	NM_000144	NP_000135	Q16595	FRDA_HUMAN			5	845	+			209					A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Missense_Mutation	SNP	ENST00000377270.3	37	c.625G>C	CCDS6626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.76|12.76	2.035768|2.035768	0.35893|0.35893	.|.	.|.	ENSG00000165060|ENSG00000165060	ENST00000377270;ENST00000498653|ENST00000484259	D;D|.	0.95103|.	-3.61;-3.15|.	4.87|4.87	3.96|3.96	0.45880|0.45880	.|.	0.674218|.	0.14626|.	N|.	0.308140|.	T|T	0.58192|0.58192	0.2105|0.2105	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B|.	0.12630|.	0.006|.	B|.	0.08055|.	0.003|.	T|T	0.54227|0.54227	-0.8325|-0.8325	10|5	0.87932|.	D|.	0|.	-0.008|-0.008	13.1173|13.1173	0.59307|0.59307	0.0:0.161:0.839:0.0|0.0:0.161:0.839:0.0	.|.	209|.	Q16595|.	FRDA_HUMAN|.	H|T	209;134|106	ENSP00000366482:D209H;ENSP00000418015:D134H|.	ENSP00000366482:D209H|.	D|R	+|+	1|2	0|0	FXN|FXN	70877490|70877490	0.996000|0.996000	0.38824|0.38824	0.685000|0.685000	0.30070|0.30070	0.179000|0.179000	0.23085|0.23085	2.177000|2.177000	0.42509|0.42509	1.031000|1.031000	0.39867|0.39867	-0.302000|-0.302000	0.09304|0.09304	GAT|AGA		PASS	0.498	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052568.2	NM_000144		12	76	12	76	---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86498736	86498736	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr9:86498736T>C	ENST00000297814.2	-	10	2580	c.2437A>G	c.(2437-2439)Aga>Gga	p.R813G	KIF27_ENST00000413982.1_Missense_Mutation_p.R813G|KIF27_ENST00000334204.2_Missense_Mutation_p.R813G|KIF27_ENST00000376347.1_Missense_Mutation_p.R204G	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	813					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R813G(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ACCTGAACTCTCAGCTTTGCA	0.348																																						uc004ana.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(1)	5						c.(2437-2439)AGA>GGA		kinesin family member 27							78.0	73.0	75.0					9																	86498736		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86498736T>C	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2437A>G	9.37:g.86498736T>C	ENSP00000297814:p.Arg813Gly					KIF27_uc010mpw.2_Missense_Mutation_p.R813G|KIF27_uc010mpx.2_Missense_Mutation_p.R813G	p.R813G	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			10	2581	-			813			Potential.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.2437A>G	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791455	0.50102	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.46451	0.87;1.13;0.87;0.87	5.36	4.18	0.49190	.	0.314195	0.25514	N	0.030158	T	0.34193	0.0889	L	0.47716	1.5	0.28691	N	0.904577	B;P;B	0.36465	0.082;0.554;0.094	B;B;B	0.29942	0.036;0.109;0.024	T	0.28364	-1.0046	10	0.72032	D	0.01	.	12.1304	0.53940	0.0:0.0:0.1436:0.8564	.	813;813;813	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	G	813;813;813;204	ENSP00000297814:R813G;ENSP00000401688:R813G;ENSP00000333928:R813G;ENSP00000365525:R204G	ENSP00000297814:R813G	R	-	1	2	KIF27	85688556	1.000000	0.71417	0.713000	0.30519	0.989000	0.77384	3.950000	0.56676	0.817000	0.34445	0.477000	0.44152	AGA		PASS	0.348	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		22	86	22	86	---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	111979247	111979247	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr9:111979247C>G	ENST00000374566.3	-	16	2105	c.1588G>C	c.(1588-1590)Gag>Cag	p.E530Q		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	530					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.E530Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAGGCCCCTCTTTGTTCTCC	0.592																																						uc004bdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1588-1590)GAG>CAG		erythrocyte membrane protein band 4.1 like 4B							125.0	126.0	126.0					9																	111979247		2062	4197	6259	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111979247C>G	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1588G>C	9.37:g.111979247C>G	ENSP00000363694:p.Glu530Gln						p.E530Q	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			16	1883	-			530					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1588G>C	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386110	0.42308	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84800	-1.9	5.87	5.87	0.94306	.	0.000000	0.40469	N	0.001084	T	0.72645	0.3486	N	0.19112	0.55	0.80722	D	1	P	0.40144	0.704	B	0.31442	0.13	T	0.72633	-0.4234	10	0.22109	T	0.4	.	15.7791	0.78246	0.0:1.0:0.0:0.0	.	530	Q9H329	E41LB_HUMAN	Q	215;530	ENSP00000363694:E530Q	ENSP00000262536:E215Q	E	-	1	0	EPB41L4B	111019068	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.943000	0.56621	2.789000	0.95967	0.650000	0.86243	GAG		PASS	0.592	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		36	153	36	153	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119115100	119115100	+	Silent	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr9:119115100C>A	ENST00000328252.3	+	16	4449	c.4080C>A	c.(4078-4080)gcC>gcA	p.A1360A	PAPPA_ENST00000534838.1_Silent_p.A398A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1360	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A1360A(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCCAGACCGCCCGGTGCCGAG	0.572																																						uc004bjn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(4078-4080)GCC>GCA		pregnancy-associated plasma protein A							77.0	66.0	70.0					9																	119115100		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119115100C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4080C>A	9.37:g.119115100C>A						PAPPA_uc011lxq.1_Silent_p.A735A	p.A1360A	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			16	4461	+			1360			Sushi 3.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.4080C>A	CCDS6813.1																																																																																				PASS	0.572	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		12	83	12	83	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135224757	135224757	+	Missense_Mutation	SNP	C	C	A	rs79740039	byFrequency	TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr9:135224757C>A	ENST00000224140.5	-	3	241	c.59G>T	c.(58-60)cGc>cTc	p.R20L	SETX_ENST00000393220.1_Missense_Mutation_p.R20L|SETX_ENST00000372169.2_Missense_Mutation_p.R20L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	20					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R20L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGAAGCATAGCGCTTTAGGAA	0.483																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(58-60)CGC>CTC		senataxin							103.0	88.0	93.0					9																	135224757		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135224757C>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.59G>T	9.37:g.135224757C>A	ENSP00000224140:p.Arg20Leu						p.R20L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	3	242	-		Myeloproliferative disorder(178;0.204)	20					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.59G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	5.892	0.348691	0.11126	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86562	-2.04;-2.14;-1.75	5.41	-2.16	0.07080	.	0.885675	0.09942	N	0.735858	T	0.72827	0.3509	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57183	-0.7855	10	0.46703	T	0.11	.	3.0618	0.06201	0.1089:0.3528:0.1068:0.4315	.	20	Q7Z333	SETX_HUMAN	L	20	ENSP00000224140:R20L;ENSP00000361242:R20L;ENSP00000376913:R20L	ENSP00000224140:R20L	R	-	2	0	SETX	134214578	0.000000	0.05858	0.025000	0.17156	0.006000	0.05464	-0.540000	0.06106	-0.501000	0.06605	-2.390000	0.00227	CGC		PASS	0.483	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		17	64	17	64	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139905173	139905173	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr9:139905173T>A	ENST00000371605.3	-	39	6217	c.6070A>T	c.(6070-6072)Acc>Tcc	p.T2024S	ABCA2_ENST00000341511.6_Missense_Mutation_p.T2025S|ABCA2_ENST00000265662.5_Missense_Mutation_p.T2025S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2024					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.T2025S(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)		ACAGGCTTGGTAGACACAGGC	0.632																																						uc011mem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(6070-6072)ACC>TCC		ATP-binding cassette, sub-family A, member 2							83.0	93.0	90.0					9																	139905173		2153	4253	6406	SO:0001583	missense	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.chr9:139905173T>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.6070A>T	9.37:g.139905173T>A	ENSP00000360666:p.Thr2024Ser					ABCA2_uc011mel.1_Missense_Mutation_p.T2025S|ABCA2_uc004ckl.1_Missense_Mutation_p.T1955S|ABCA2_uc004ckm.1_Missense_Mutation_p.T2055S	p.T2024S	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)	39	6218	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2024					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.6070A>T		.	.	.	.	.	.	.	.	.	.	T	2.045	-0.419107	0.04766	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	T;T;T	0.78924	-1.22;-1.22;-1.22	3.62	3.62	0.41486	.	2.661070	0.03650	U	0.240919	T	0.61515	0.2353	N	0.08118	0	0.27844	N	0.940997	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.43360	-0.9396	10	0.07813	T	0.8	.	12.3868	0.55336	0.0:0.0:0.0:1.0	.	2024;2055	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	S	2025;2024;2055;2025	ENSP00000265662:T2025S;ENSP00000360666:T2024S;ENSP00000344155:T2025S	ENSP00000265662:T2025S	T	-	1	0	ABCA2	139024994	1.000000	0.71417	0.732000	0.30844	0.343000	0.28985	2.398000	0.44486	1.518000	0.48934	0.247000	0.18012	ACC		PASS	0.632	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		18	59	18	59	---	---	---	---
EXD3	54932	broad.mit.edu	37	9	140246640	140246640	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr9:140246640C>G	ENST00000340951.4	-	12	1246	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H	EXD3_ENST00000342129.4_Missense_Mutation_p.D31H	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0								p.D351H(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGCCTCGAGTCAGCCTCAGTC	0.647																																						uc004cmp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1051-1053)GAC>CAC		exonuclease 3'-5' domain containing 3							116.0	133.0	127.0					9																	140246640		2172	4277	6449	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140246640C>G		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1051G>C	9.37:g.140246640C>G	ENSP00000340474:p.Asp351His					C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.D31H|EXD3_uc004cmq.1_RNA	p.D351H	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN			12	1247	-			351					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.1051G>C	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101368	0.20632	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.68479	-0.33;0.48	2.77	0.638	0.17742	.	2.646930	0.01780	U	0.031681	T	0.55705	0.1937	N	0.22421	0.69	0.09310	N	1	P;P	0.47409	0.895;0.657	B;B	0.41036	0.346;0.187	T	0.52533	-0.8563	10	0.51188	T	0.08	.	9.3026	0.37856	0.0:0.6841:0.3159:0.0	.	31;351	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	H	31;351	ENSP00000343705:D31H;ENSP00000340474:D351H	ENSP00000340474:D351H	D	-	1	0	EXD3	139366461	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.101000	0.10973	-0.011000	0.14247	0.313000	0.20887	GAC		PASS	0.647	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		16	94	16	94	---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48413671	48413671	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:48413671G>T	ENST00000249598.1	-	2	1356	c.1197C>A	c.(1195-1197)agC>agA	p.S399R		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	399					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S399R(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGGAGATGGGGCTCAGTTTGG	0.582																																						uc001jfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1195-1197)AGC>AGA		growth differentiation factor 2 precursor							97.0	81.0	86.0					10																	48413671		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413671G>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1197C>A	10.37:g.48413671G>T	ENSP00000249598:p.Ser399Arg						p.S399R	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	1360	-			399					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.1197C>A	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425554	0.62733	.	.	ENSG00000128802	ENST00000249598	D	0.84146	-1.81	5.52	1.59	0.23543	Transforming growth factor-beta, C-terminal (3);	0.123208	0.64402	D	0.000001	T	0.76407	0.3983	N	0.25031	0.7	0.34030	D	0.653746	D	0.61080	0.989	P	0.49387	0.609	T	0.78922	-0.2013	10	0.72032	D	0.01	.	4.58	0.12253	0.3702:0.1618:0.4679:0.0	.	399	Q9UK05	GDF2_HUMAN	R	399	ENSP00000249598:S399R	ENSP00000249598:S399R	S	-	3	2	GDF2	48033677	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.542000	0.36137	0.709000	0.31976	0.585000	0.79938	AGC		PASS	0.582	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		5	47	5	47	---	---	---	---
ASAH2	56624	broad.mit.edu	37	10	52008313	52008313	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:52008313T>A	ENST00000395526.4	-	1	57	c.58A>T	c.(58-60)Atg>Ttg	p.M20L	ASAH2_ENST00000447815.1_Missense_Mutation_p.M20L|ASAH2_ENST00000329428.6_Start_Codon_SNP_p.M1L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	20					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)	p.M1L(1)|p.M20L(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						ATGGCACTCATCATTACAAGG	0.448																																						uc001jjd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(58-60)ATG>TTG		N-acylsphingosine amidohydrolase 2 isoform a							129.0	123.0	125.0					10																	52008313		2203	4300	6503	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:52008313T>A	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.58A>T	10.37:g.52008313T>A	ENSP00000378897:p.Met20Leu					ASAH2_uc009xos.2_Missense_Mutation_p.M20L	p.M20L	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN			1	58	-			20			Helical; Signal-anchor for type II membrane protein; (Potential).		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.58A>T	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420185	0.62622	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.29655	1.61;1.56;1.6	5.94	5.94	0.96194	.	0.198505	0.51477	D	0.000083	T	0.26304	0.0642	L	0.34521	1.04	0.80722	D	1	B;B	0.17667	0.023;0.014	B;B	0.18561	0.022;0.01	T	0.04103	-1.0977	10	0.87932	D	0	.	12.7869	0.57512	0.0:0.0:0.0:1.0	.	20;20	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	L	20;20;1	ENSP00000378897:M20L;ENSP00000388206:M20L;ENSP00000329886:M1L	ENSP00000329886:M1L	M	-	1	0	ASAH2	51678319	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.517000	0.60503	2.272000	0.75746	0.460000	0.39030	ATG		PASS	0.448	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		16	117	16	117	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55782810	55782810	+	Missense_Mutation	SNP	C	C	A	rs483352837		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:55782810C>A	ENST00000320301.6	-	19	2762	c.2368G>T	c.(2368-2370)Gtg>Ttg	p.V790L	PCDH15_ENST00000395430.1_Missense_Mutation_p.V790L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V797L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V753L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V795L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V719L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.V401L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V768L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V790L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.V790L|PCDH15_ENST00000373965.2_Missense_Mutation_p.V797L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.V790L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	790	Cadherin 7. {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.V790L(2)|p.V795L(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)				TCTGTTGCCACAACAACAAGT	0.418										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2368-2370)GTG>TTG		protocadherin 15 isoform CD1-4 precursor							191.0	175.0	180.0					10																	55782810		2203	4300	6503	SO:0001583	missense	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.chr10:55782810C>A	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.2368G>T	10.37:g.55782810C>A	ENSP00000322604:p.Val790Leu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.V795L|PCDH15_uc010qhr.1_Missense_Mutation_p.V790L|PCDH15_uc010qhs.1_Missense_Mutation_p.V802L|PCDH15_uc010qht.1_Missense_Mutation_p.V797L|PCDH15_uc010qhu.1_Missense_Mutation_p.V790L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V790L|PCDH15_uc010qhw.1_Missense_Mutation_p.V753L|PCDH15_uc010qhx.1_Missense_Mutation_p.V719L|PCDH15_uc010qhy.1_Missense_Mutation_p.V795L|PCDH15_uc010qhz.1_Missense_Mutation_p.V790L|PCDH15_uc010qia.1_Missense_Mutation_p.V768L|PCDH15_uc010qib.1_Missense_Mutation_p.V768L|PCDH15_uc001jjw.2_Missense_Mutation_p.V790L	p.V790L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			19	2763	-		Melanoma(3;0.117)|Lung SC(717;0.238)	790			Extracellular (Potential).|Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2368G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689509	0.88735	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58566	0.2131	N	0.12746	0.255	0.42033	D	0.991036	P;P;P;P;D;B;P;P;P;P;B;P;P;P	0.54772	0.939;0.637;0.801;0.658;0.968;0.211;0.939;0.542;0.873;0.873;0.232;0.542;0.486;0.873	P;B;P;P;P;B;P;P;P;P;B;P;B;B	0.59288	0.76;0.365;0.484;0.484;0.855;0.16;0.76;0.464;0.602;0.602;0.193;0.464;0.173;0.365	T	0.61997	-0.6947	9	0.44086	T	0.13	.	19.6379	0.95744	0.0:1.0:0.0:0.0	.	768;790;790;795;719;753;790;790;797;797;790;795;790;790	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	797;795;790;790;401;797;753;790;768;790;790;795;719;790	ENSP00000363076:V797L;ENSP00000410304:V795L;ENSP00000378826:V790L;ENSP00000386693:V401L;ENSP00000378832:V797L;ENSP00000378820:V753L;ENSP00000354950:V790L;ENSP00000378821:V768L;ENSP00000322604:V790L;ENSP00000378818:V790L;ENSP00000412628:V719L;ENSP00000363066:V790L	ENSP00000322604:V790L	V	-	1	0	PCDH15	55452816	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.015000	0.70791	2.812000	0.96745	0.555000	0.69702	GTG		PASS	0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	151	23	151	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64415325	64415325	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:64415325G>T	ENST00000395251.1	+	4	659	c.325G>T	c.(325-327)Gca>Tca	p.A109S	ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	109								p.A109S(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAATACACTTGCAGAGTCGTG	0.507																																						uc001jmd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(325-327)GCA>TCA		zinc finger protein 365 isoform D							127.0	102.0	111.0					10																	64415325		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64415325G>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.325G>T	10.37:g.64415325G>T	ENSP00000378672:p.Ala109Ser					ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	p.A109S	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN			4	659	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		109						Missense_Mutation	SNP	ENST00000395251.1	37	c.325G>T	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028016	0.35797	.	.	ENSG00000138311	ENST00000395251	T	0.54279	0.58	5.19	2.27	0.28462	.	.	.	.	.	T	0.45776	0.1359	N	0.08118	0	0.18873	N	0.999983	D	0.64830	0.994	D	0.63703	0.917	T	0.27123	-1.0083	9	0.87932	D	0	.	5.1399	0.14954	0.1905:0.1797:0.6298:0.0	.	109	Q70YC4	TALAN_HUMAN	S	109	ENSP00000378672:A109S	ENSP00000378672:A109S	A	+	1	0	ZNF365	64085331	0.858000	0.29795	0.004000	0.12327	0.013000	0.08279	1.359000	0.34113	0.260000	0.21731	0.591000	0.81541	GCA		PASS	0.507	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		22	98	22	98	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75519797	75519797	+	Missense_Mutation	SNP	C	C	T	rs547378473		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:75519797C>T	ENST00000339365.2	+	6	665	c.503C>T	c.(502-504)tCa>tTa	p.S168L	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.S26L|SEC24C_ENST00000546025.1_Missense_Mutation_p.S26L|SEC24C_ENST00000345254.4_Missense_Mutation_p.S168L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	168					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.S168L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCGCTGGCTTCAGCCTCAGGA	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20252	0.0		0.0	False		,,,				2504	0.0					uc001juw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(502-504)TCA>TTA		SEC24-related protein C							98.0	92.0	94.0					10																	75519797		2200	4294	6494	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75519797C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.503C>T	10.37:g.75519797C>T	ENSP00000343405:p.Ser168Leu					SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Missense_Mutation_p.S26L|SEC24C_uc001jux.2_Missense_Mutation_p.S168L|SEC24C_uc010qko.1_Missense_Mutation_p.S26L|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	p.S168L	NM_004922	NP_004913	P53992	SC24C_HUMAN			6	682	+	Prostate(51;0.0112)		168					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.503C>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841447	0.51057	.	.	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;D	0.81908	-1.18;-1.18;-1.55	5.28	5.28	0.74379	.	0.407122	0.27563	N	0.018806	T	0.78553	0.4301	L	0.50333	1.59	0.80722	D	1	B;P;B	0.35033	0.02;0.481;0.349	B;B;B	0.33454	0.016;0.164;0.05	T	0.75172	-0.3411	10	0.11794	T	0.64	-12.0017	18.8807	0.92354	0.0:1.0:0.0:0.0	.	26;168;168	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	L	26;168;168;26	ENSP00000321845:S168L;ENSP00000343405:S168L;ENSP00000402913:S26L	ENSP00000343405:S168L	S	+	2	0	SEC24C	75189803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.600000	0.67599	2.629000	0.89072	0.561000	0.74099	TCA		PASS	0.532	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			44	190	44	190	---	---	---	---
FFAR4	338557	broad.mit.edu	37	10	95326724	95326724	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:95326724T>G	ENST00000371483.4	+	1	303	c.247T>G	c.(247-249)Tgc>Ggc	p.C83G	FFAR4_ENST00000604414.1_Missense_Mutation_p.C83G|FFAR4_ENST00000371481.4_Missense_Mutation_p.C83G	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	83					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)	p.C83G(1)									CAACCTCTTCTGCGCGGACCT	0.672																																						uc010qnt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)TGC>GGC		G protein-coupled receptor 120							50.0	48.0	49.0					10																	95326724		2203	4298	6501	SO:0001583	missense	338557				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	g.chr10:95326724T>G		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.247T>G	10.37:g.95326724T>G	ENSP00000360538:p.Cys83Gly					GPR120_uc010qnu.1_Missense_Mutation_p.C83G	p.C83G	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN			1	303	+		Colorectal(252;0.122)	83			Helical; Name=2; (Potential).		Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.247T>G	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.972907	0.53614	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.37235	1.21;1.21	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.57536	1.79	0.42079	D	0.991249	D;D	0.76494	0.999;0.999	D;D	0.77557	0.951;0.99	T	0.60687	-0.7214	10	0.87932	D	0	-34.7135	15.2726	0.73717	0.0:0.0:0.0:1.0	.	83;83	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	G	83	ENSP00000360536:C83G;ENSP00000360538:C83G	ENSP00000360536:C83G	C	+	1	0	O3FAR1	95316714	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	3.060000	0.49955	2.192000	0.70111	0.459000	0.35465	TGC		PASS	0.672	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		8	32	8	32	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101591877	101591877	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:101591877A>T	ENST00000370449.4	+	23	3360	c.3247A>T	c.(3247-3249)Agg>Tgg	p.R1083W		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1083	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R1083W(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GATTGTGAACAGGTTTGCCGG	0.443																																						uc001kqf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3247-3249)AGG>TGG		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						81.0	78.0	79.0					10																	101591877		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101591877A>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3247A>T	10.37:g.101591877A>T	ENSP00000359478:p.Arg1083Trp						p.R1083W	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	23	3386	+		Colorectal(252;0.234)	1083			ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3247A>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137885	0.77775	.	.	ENSG00000023839	ENST00000370449	D	0.93659	-3.26	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98178	0.9398	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	-20.8818	16.1105	0.81261	1.0:0.0:0.0:0.0	.	1083	Q92887	MRP2_HUMAN	W	1083	ENSP00000359478:R1083W	ENSP00000359478:R1083W	R	+	1	2	ABCC2	101581867	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.395000	0.52558	2.209000	0.71365	0.482000	0.46254	AGG		PASS	0.443	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		29	112	29	112	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101835705	101835705	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:101835705G>A	ENST00000370418.3	-	2	634	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	128	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S128F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GGGGTTCATGGATGGCAGGAT	0.582																																						uc001kql.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|pancreas(1)	4						c.(382-384)TCC>TTC		carboxypeptidase N, polypeptide 1 precursor							120.0	101.0	107.0					10																	101835705		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835705G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.383C>T	10.37:g.101835705G>A	ENSP00000359446:p.Ser128Phe						p.S128F	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	2	643	-		Colorectal(252;0.234)	128			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.383C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471426	0.84533	.	.	ENSG00000120054	ENST00000370418	T	0.12465	2.68	5.74	5.74	0.90152	Peptidase M14, carboxypeptidase A (2);	0.047323	0.85682	D	0.000000	T	0.53286	0.1787	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.67213	-0.5727	10	0.87932	D	0	-16.3977	19.9352	0.97137	0.0:0.0:1.0:0.0	.	128	P15169	CBPN_HUMAN	F	128	ENSP00000359446:S128F	ENSP00000359446:S128F	S	-	2	0	CPN1	101825695	1.000000	0.71417	0.990000	0.47175	0.346000	0.29079	9.866000	0.99616	2.724000	0.93272	0.655000	0.94253	TCC		PASS	0.582	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		15	78	15	78	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103898521	103898521	+	Splice_Site	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:103898521C>G	ENST00000278070.2	+	3	527	c.488C>G	c.(487-489)tCt>tGt	p.S163C	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Splice_Site_p.S163C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S163C(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGGGCTCCTCTGTGAGTGTG	0.507																																						uc001kum.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(487-489)TCT>TGT		peroxisome proliferator-activated receptor							90.0	86.0	87.0					10																	103898521		2203	4300	6503	SO:0001630	splice_region_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898521C>G	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.489+1C>G	10.37:g.103898521C>G						PPRC1_uc001kun.2_Missense_Mutation_p.S43C|PPRC1_uc010qqj.1_Missense_Mutation_p.S163C|PPRC1_uc009xxa.2_5'Flank	p.S163C	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	3	527	+		Colorectal(252;0.122)	163					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.488C>G	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061089	0.76074	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.31769	1.48;1.48	4.88	4.88	0.63580	.	0.157867	0.41396	D	0.000881	T	0.42630	0.1211	N	0.24115	0.695	0.42422	D	0.992643	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.97;0.98;0.97	T	0.46638	-0.9177	10	0.87932	D	0	.	16.9902	0.86351	0.0:1.0:0.0:0.0	.	163;43;163	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	C	163	ENSP00000278070:S163C;ENSP00000399743:S163C	ENSP00000278070:S163C	S	+	2	0	PPRC1	103888511	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.055000	0.71103	2.453000	0.82957	0.462000	0.41574	TCT		PASS	0.507	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	Missense_Mutation	19	138	19	138	---	---	---	---
ELOVL3	83401	broad.mit.edu	37	10	103987391	103987391	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:103987391C>G	ENST00000370005.3	+	2	331	c.110C>G	c.(109-111)tCa>tGa	p.S37*		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	37					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.S37*(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AGGGCAACCTCATTCCCCATA	0.562																																						uc001kut.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(109-111)TCA>TGA		elongation of very long chain fatty acids like							293.0	241.0	259.0					10																	103987391		2203	4300	6503	SO:0001587	stop_gained	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103987391C>G	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.110C>G	10.37:g.103987391C>G	ENSP00000359022:p.Ser37*						p.S37*	NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	2	273	+		Colorectal(252;0.207)	37			Helical; (Potential).		Q5VZL3|Q8N180	Nonsense_Mutation	SNP	ENST00000370005.3	37	c.110C>G	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351836	0.82132	.	.	ENSG00000119915	ENST00000370005	.	.	.	4.38	3.46	0.39613	.	0.474177	0.17827	N	0.160642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.7541	13.1882	0.59695	0.0:0.8379:0.1621:0.0	.	.	.	.	X	37	.	ENSP00000359022:S37X	S	+	2	0	ELOVL3	103977381	0.978000	0.34361	0.012000	0.15200	0.101000	0.19017	4.371000	0.59523	0.920000	0.36970	-0.502000	0.04539	TCA		PASS	0.562	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		29	302	29	302	---	---	---	---
ELOVL3	83401	broad.mit.edu	37	10	103987488	103987488	+	Silent	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:103987488C>G	ENST00000370005.3	+	2	428	c.207C>G	c.(205-207)ctC>ctG	p.L69L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	69					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.L69L(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CTCTCATCCTCTGGTCCTTCT	0.527																																						uc001kut.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(205-207)CTC>CTG		elongation of very long chain fatty acids like							264.0	222.0	236.0					10																	103987488		2203	4300	6503	SO:0001819	synonymous_variant	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103987488C>G	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.207C>G	10.37:g.103987488C>G							p.L69L	NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	2	370	+		Colorectal(252;0.207)	69			Helical; (Potential).		Q5VZL3|Q8N180	Silent	SNP	ENST00000370005.3	37	c.207C>G	CCDS7531.1																																																																																				PASS	0.527	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		29	237	29	237	---	---	---	---
INA	9118	broad.mit.edu	37	10	105037298	105037298	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:105037298G>A	ENST00000369849.4	+	1	379	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	110	Coil 1A.|Rod.		E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E110E(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGTTCATCGAGAAGGTGCATC	0.672																																						uc001kws.2																			1	Substitution - coding silent(1)	p.E110Q(1)	lung(1)	ovary(1)|breast(1)	2						c.(328-330)GAG>GAA		internexin neuronal intermediate filament							26.0	24.0	24.0					10																	105037298		2126	4141	6267	SO:0001819	synonymous_variant	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037298G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.330G>A	10.37:g.105037298G>A						uc001kwr.2_5'Flank|INA_uc009xxj.2_Silent_p.E110E	p.E110E	NM_032727	NP_116116	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	379	+			110		E -> Q (in a breast cancer sample; somatic mutation).	Coil 1A.|Rod.		B1AQK0|Q9BRC5	Silent	SNP	ENST00000369849.4	37	c.330G>A	CCDS7545.1																																																																																				PASS	0.672	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		8	31	8	31	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124402788	124402788	+	Silent	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:124402788C>A	ENST00000338354.3	+	53	7222	c.7116C>A	c.(7114-7116)tcC>tcA	p.S2372S	DMBT1_ENST00000368956.2_Silent_p.S1744S|DMBT1_ENST00000330163.4_Silent_p.S1744S|DMBT1_ENST00000344338.3_Silent_p.S2362S|DMBT1_ENST00000368909.3_Silent_p.S2372S|DMBT1_ENST00000368955.3_Silent_p.S2362S|DMBT1_ENST00000359586.6_Silent_p.S1092S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2372	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.S2372S(2)|p.S2501S(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCCCTCTTCCCGCTGCTACC	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(7)	7						c.(7114-7116)TCC>TCA		deleted in malignant brain tumors 1 isoform b							128.0	130.0	130.0					10																	124402788		2082	4223	6305	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402788C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7116C>A	10.37:g.124402788C>A						DMBT1_uc001lgl.1_Silent_p.S2362S|DMBT1_uc001lgm.1_Silent_p.S1744S|DMBT1_uc009xzz.1_Silent_p.S2371S|DMBT1_uc010qtx.1_Silent_p.S1092S|DMBT1_uc009yab.1_Silent_p.S1075S|DMBT1_uc009yac.1_Silent_p.S666S	p.S2372S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			53	7222	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2372			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.7116C>A																																																																																					PASS	0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		38	166	38	166	---	---	---	---
ZRANB1	54764	broad.mit.edu	37	10	126631520	126631520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr10:126631520G>A	ENST00000359653.4	+	1	829	c.458G>A	c.(457-459)tGg>tAg	p.W153*	RP11-298J20.3_ENST00000449984.1_RNA|RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	153					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.W153*(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		ACACAGCACTGGACTTGCTCT	0.418																																						uc001lic.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(457-459)TGG>TAG		zinc finger, RAN-binding domain containing 1							106.0	104.0	104.0					10																	126631520		2203	4300	6503	SO:0001587	stop_gained	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126631520G>A	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.458G>A	10.37:g.126631520G>A	ENSP00000352676:p.Trp153*					ZRANB1_uc010qug.1_Nonsense_Mutation_p.W179*	p.W153*	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	1	829	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	153			RanBP2-type 3.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Nonsense_Mutation	SNP	ENST00000359653.4	37	c.458G>A	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	38	7.012417	0.98002	.	.	ENSG00000019995	ENST00000359653	.	.	.	5.25	5.25	0.73442	.	0.169026	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1191	19.0339	0.92970	0.0:0.0:1.0:0.0	.	.	.	.	X	153	.	ENSP00000352676:W153X	W	+	2	0	ZRANB1	126621510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.724000	0.93272	0.655000	0.94253	TGG		PASS	0.418	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		57	184	57	184	---	---	---	---
HBE1	3046	broad.mit.edu	37	11	5291102	5291102	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:5291102C>T	ENST00000380237.1	-	3	363	c.19G>A	c.(19-21)Gag>Aag	p.E7K	HBE1_ENST00000292896.2_Missense_Mutation_p.E7K|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	7					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.E7K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTCTCCTCAGCAGTAAAA	0.527																																						uc001mal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)GAG>AAG		epsilon globin							104.0	92.0	96.0					11																	5291102		2201	4297	6498	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5291102C>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.19G>A	11.37:g.5291102C>T	ENSP00000369586:p.Glu7Lys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.E7K	p.E7K	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	272	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	7					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.19G>A	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945661	0.73672	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.89123	-2.47;-2.47;-2.47	5.81	5.81	0.92471	Globin-like (1);Globin, structural domain (1);	0.675021	0.13493	U	0.383854	D	0.93099	0.7803	L	0.60012	1.86	0.47659	D	0.999484	D	0.64830	0.994	P	0.60473	0.875	D	0.92467	0.5982	10	0.72032	D	0.01	-30.8343	18.6422	0.91399	0.0:1.0:0.0:0.0	.	7	P02100	HBE_HUMAN	K	7	ENSP00000369586:E7K;ENSP00000292896:E7K;ENSP00000380104:E7K	ENSP00000292896:E7K	E	-	1	0	HBE1	5247678	0.403000	0.25319	0.998000	0.56505	0.804000	0.45430	1.917000	0.39996	2.756000	0.94617	0.585000	0.79938	GAG		PASS	0.527	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		7	46	7	46	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905882	5905882	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:5905882G>T	ENST00000316987.2	+	1	382	c.360G>T	c.(358-360)atG>atT	p.M120I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M120I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGGTCATGGCTTATGACC	0.458																																						uc010qzs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(358-360)ATG>ATT		olfactory receptor, family 52, subfamily E,							122.0	107.0	112.0					11																	5905882		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905882G>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.360G>T	11.37:g.5905882G>T	ENSP00000321426:p.Met120Ile					TRIM5_uc001mbq.1_Intron	p.M120I	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	360	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	120			Helical; Name=3; (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.360G>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666202	0.67814	.	.	ENSG00000180974	ENST00000316987	T	0.01126	5.3	5.06	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.09992	0.0245	H	0.98646	4.29	0.41646	D	0.9891	B	0.31968	0.349	P	0.49012	0.598	T	0.00002	-1.2656	10	0.87932	D	0	.	10.3137	0.43723	0.1504:0.0:0.8496:0.0	.	120	Q8NGH9	O52E4_HUMAN	I	120	ENSP00000321426:M120I	ENSP00000321426:M120I	M	+	3	0	OR52E4	5862458	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.210000	0.77924	0.720000	0.32209	0.643000	0.83706	ATG		PASS	0.458	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		37	133	37	133	---	---	---	---
RRP8	23378	broad.mit.edu	37	11	6622567	6622567	+	Silent	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:6622567T>A	ENST00000254605.6	-	3	846	c.729A>T	c.(727-729)gcA>gcT	p.A243A	RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000537806.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000420936.2_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	243					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.A243A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCAGCCGCTGTGCCATGCGGG	0.622																																						uc001med.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(727-729)GCA>GCT		ribosomal RNA processing 8, methyltransferase,							29.0	29.0	29.0					11																	6622567		2201	4296	6497	SO:0001819	synonymous_variant	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622567T>A	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.729A>T	11.37:g.6622567T>A						ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	p.A243A	NM_015324	NP_056139	O43159	RRP8_HUMAN			3	808	-			243					Q7KZ78|Q9BVM6	Silent	SNP	ENST00000254605.6	37	c.729A>T	CCDS31411.1																																																																																				PASS	0.622	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		5	26	5	26	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10514974	10514974	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:10514974G>C	ENST00000396554.3	+	7	1386	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	AMPD3_ENST00000444303.2_Missense_Mutation_p.E181Q	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	340					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.E349Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ATACCAGACGGAGCCTGACAG	0.607																																						uc001mio.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1018-1020)GAG>CAG		adenosine monophosphate deaminase 3 isoform 1B							103.0	104.0	104.0					11																	10514974		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10514974G>C	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1045G>C	11.37:g.10514974G>C	ENSP00000379802:p.Glu349Gln					AMPD3_uc010rbz.1_Missense_Mutation_p.E181Q|AMPD3_uc001min.1_Missense_Mutation_p.E349Q|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.E347Q|AMPD3_uc009yfy.2_Missense_Mutation_p.E340Q	p.E340Q	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	7	1353	+			340					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1018G>C	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128901	0.94473	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.44	5.44	0.79542	Adenosine/AMP deaminase (1);	0.095820	0.64402	D	0.000001	D	0.82774	0.5110	L	0.45581	1.43	0.58432	D	0.999999	P;B;P	0.46912	0.886;0.197;0.886	P;B;P	0.45881	0.496;0.079;0.496	T	0.82354	-0.0499	10	0.39692	T	0.17	-23.9216	19.2582	0.93955	0.0:0.0:1.0:0.0	.	347;340;349	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	Q	181;349;340;347;340	ENSP00000396000:E181Q;ENSP00000379802:E349Q;ENSP00000379801:E340Q;ENSP00000436987:E347Q;ENSP00000431648:E340Q	ENSP00000379801:E340Q	E	+	1	0	AMPD3	10471550	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.785000	0.75089	2.549000	0.85964	0.561000	0.74099	GAG		PASS	0.607	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		27	115	27	115	---	---	---	---
MYOD1	4654	broad.mit.edu	37	11	17741680	17741680	+	Silent	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:17741680C>A	ENST00000250003.3	+	1	566	c.351C>A	c.(349-351)cgC>cgA	p.R117R		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	117	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)	p.R117R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCACCATGCGCGAGCGGCGCC	0.662																																						uc001mni.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(349-351)CGC>CGA		myogenic differentiation 1							25.0	16.0	19.0					11																	17741680		2191	4286	6477	SO:0001819	synonymous_variant	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741680C>A	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.351C>A	11.37:g.17741680C>A							p.R117R	NM_002478	NP_002469	P15172	MYOD1_HUMAN			1	571	+			117			Basic motif.		O75321	Silent	SNP	ENST00000250003.3	37	c.351C>A	CCDS7826.1																																																																																				PASS	0.662	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		7	14	7	14	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21592335	21592335	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:21592335C>G	ENST00000357134.5	+	18	2158	c.2006C>G	c.(2005-2007)aCa>aGa	p.T669R	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.T612R|NELL1_ENST00000532434.1_Missense_Mutation_p.T622R|NELL1_ENST00000298925.5_Missense_Mutation_p.T697R	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	669					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.T669R(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGCCGACGGACAGCTTGTGAT	0.428																																						uc001mqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2005-2007)ACA>AGA		nel-like 1 isoform 1 precursor							137.0	124.0	128.0					11																	21592335		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592335C>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2006C>G	11.37:g.21592335C>G	ENSP00000349654:p.Thr669Arg					NELL1_uc001mqf.2_Missense_Mutation_p.T622R|NELL1_uc009yid.2_Missense_Mutation_p.T697R|NELL1_uc010rdo.1_Missense_Mutation_p.T612R|NELL1_uc010rdp.1_Missense_Mutation_p.T382R|NELL1_uc001mqh.2_Missense_Mutation_p.T214R	p.T669R	NM_006157	NP_006148	Q92832	NELL1_HUMAN			18	2159	+			669			VWFC 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2006C>G	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744172	0.69418	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.79033	-1.23;-1.2;-1.13;-0.11	6.16	6.16	0.99307	.	0.060812	0.64402	D	0.000003	T	0.66934	0.2840	N	0.13235	0.315	0.53688	D	0.999974	B;B;B;B;B	0.22851	0.058;0.034;0.076;0.016;0.034	B;B;B;B;B	0.21917	0.037;0.016;0.024;0.029;0.016	T	0.59247	-0.7490	10	0.27785	T	0.31	-14.2033	20.8598	0.99761	0.0:1.0:0.0:0.0	.	612;697;214;622;669	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	R	697;669;612;622	ENSP00000298925:T697R;ENSP00000349654:T669R;ENSP00000317837:T612R;ENSP00000437170:T622R	ENSP00000298925:T697R	T	+	2	0	NELL1	21548911	0.987000	0.35691	1.000000	0.80357	0.967000	0.64934	1.700000	0.37815	2.937000	0.99478	0.650000	0.86243	ACA		PASS	0.428	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		26	130	26	130	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26677983	26677983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:26677983C>A	ENST00000256737.3	+	26	3570	c.2718C>A	c.(2716-2718)taC>taA	p.Y906*	ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y760*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y890*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y890*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	906					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.Y906*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTTTACAATACTGGCATATCC	0.378																																						uc001mqt.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2716-2718)TAC>TAA		transmembrane protein 16C							166.0	170.0	168.0					11																	26677983		2203	4299	6502	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26677983C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2718C>A	11.37:g.26677983C>A	ENSP00000256737:p.Tyr906*					ANO3_uc010rdr.1_Nonsense_Mutation_p.Y890*|ANO3_uc010rds.1_Nonsense_Mutation_p.Y745*|ANO3_uc010rdt.1_Nonsense_Mutation_p.Y760*	p.Y906*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			26	2863	+			906			Extracellular (Potential).		B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.2718C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	39	7.823260	0.98510	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.44	4.53	0.55603	.	0.048658	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4806	0.55839	0.0:0.8592:0.0:0.1408	.	.	.	.	X	890;890;906;808;760	.	ENSP00000256737:Y906X	Y	+	3	2	ANO3	26634559	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	1.754000	0.38369	1.286000	0.44565	0.650000	0.86243	TAC		PASS	0.378	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		38	179	38	179	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31329246	31329246	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:31329246G>A	ENST00000452803.1	-	4	575	c.374C>T	c.(373-375)tCt>tTt	p.S125F	DCDC1_ENST00000597505.1_Missense_Mutation_p.S125F|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	125					intracellular signal transduction (GO:0035556)			p.S125F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TATAGAACAAGAATTGTTTTT	0.393																																						uc001msv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(373-375)TCT>TTT		doublecortin domain containing 1							251.0	233.0	239.0					11																	31329246		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31329246G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.374C>T	11.37:g.31329246G>A	ENSP00000389792:p.Ser125Phe					DCDC1_uc001msu.1_5'UTR	p.S125F	NM_181807	NP_861523	P59894	DCDC1_HUMAN			4	576	-	Lung SC(675;0.225)		125					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.374C>T	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495180	0.44352	.	.	ENSG00000188682	ENST00000452803	T	0.33438	1.41	5.9	5.9	0.94986	.	0.115266	0.39407	N	0.001362	T	0.19886	0.0478	L	0.29908	0.895	0.32373	N	0.555642	B	0.31318	0.319	B	0.26416	0.069	T	0.18524	-1.0334	10	0.39692	T	0.17	.	7.7309	0.28786	0.1894:0.0:0.8106:0.0	.	125	P59894	DCDC1_HUMAN	F	125	ENSP00000389792:S125F	ENSP00000343496:S125F	S	-	2	0	DCDC1	31285822	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.217000	0.51184	2.788000	0.95919	0.650000	0.86243	TCT		PASS	0.393	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		54	343	54	343	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49168478	49168478	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:49168478T>C	ENST00000256999.2	-	19	2343	c.2083A>G	c.(2083-2085)Agc>Ggc	p.S695G	FOLH1_ENST00000340334.7_Missense_Mutation_p.S680G|FOLH1_ENST00000356696.3_Missense_Mutation_p.S664G|FOLH1_ENST00000343844.4_Missense_Mutation_p.S387G|FOLH1_ENST00000533034.1_Missense_Mutation_p.S649G	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	695					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.S695G(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)	TTGTGGCTGCTTGGAGCATAG	0.438																																						uc001ngy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2083-2085)AGC>GGC		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						100.0	98.0	99.0					11																	49168478		2200	4279	6479	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49168478T>C	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.2083A>G	11.37:g.49168478T>C	ENSP00000256999:p.Ser695Gly					FOLH1_uc001ngx.2_Silent_p.Q94Q|FOLH1_uc001ngz.2_Missense_Mutation_p.S664G|FOLH1_uc009yly.2_Missense_Mutation_p.S680G|FOLH1_uc009ylz.2_Missense_Mutation_p.S649G|FOLH1_uc009yma.2_Missense_Mutation_p.S387G	p.S695G	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			19	2344	-			695			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.2083A>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.764846	0.49574	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	3.26	3.26	0.37387	Transferrin receptor-like, dimerisation domain (3);	0.000000	0.64402	D	0.000002	T	0.39226	0.1070	M	0.64170	1.965	0.80722	D	1	P;D;P;B	0.57899	0.891;0.981;0.772;0.1	P;P;P;B	0.58928	0.72;0.848;0.584;0.067	T	0.15838	-1.0423	10	0.44086	T	0.13	.	9.8099	0.40817	0.0:0.0:0.0:1.0	.	649;680;664;695	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	G	695;664;680;387;649	ENSP00000256999:S695G;ENSP00000349129:S664G;ENSP00000344131:S680G;ENSP00000344086:S387G;ENSP00000431463:S649G	ENSP00000256999:S695G	S	-	1	0	FOLH1	49125054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.862000	0.75484	1.481000	0.48307	0.496000	0.49642	AGC		PASS	0.438	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		73	126	73	126	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49178328	49178328	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:49178328C>G	ENST00000256999.2	-	15	1824	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q	FOLH1_ENST00000340334.7_Missense_Mutation_p.E507Q|FOLH1_ENST00000356696.3_Missense_Mutation_p.E522Q|FOLH1_ENST00000343844.4_Missense_Mutation_p.E214Q|FOLH1_ENST00000533034.1_Missense_Mutation_p.E507Q	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	522	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.E522Q(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)	AAGAACACCTCAAAATCATTT	0.318																																						uc001ngy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1564-1566)GAG>CAG		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						59.0	63.0	61.0					11																	49178328		2197	4273	6470	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49178328C>G	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.1564G>C	11.37:g.49178328C>G	ENSP00000256999:p.Glu522Gln					FOLH1_uc001ngx.2_5'Flank|FOLH1_uc001ngz.2_Missense_Mutation_p.E522Q|FOLH1_uc009yly.2_Missense_Mutation_p.E507Q|FOLH1_uc009ylz.2_Missense_Mutation_p.E507Q|FOLH1_uc009yma.2_Missense_Mutation_p.E214Q	p.E522Q	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			15	1825	-			522			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1564G>C	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715315	0.68844	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	3.78	3.78	0.43462	.	0.000000	0.56097	D	0.000023	T	0.57725	0.2073	M	0.62154	1.92	0.80722	D	1	D;D;P;D	0.89917	0.999;1.0;0.942;0.98	D;D;P;P	0.75484	0.972;0.986;0.708;0.762	T	0.54118	-0.8341	10	0.25106	T	0.35	.	13.4691	0.61271	0.0:1.0:0.0:0.0	.	507;507;522;522	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	Q	522;522;507;214;507;525	ENSP00000256999:E522Q;ENSP00000349129:E522Q;ENSP00000344131:E507Q;ENSP00000344086:E214Q;ENSP00000431463:E507Q	ENSP00000256999:E522Q	E	-	1	0	FOLH1	49134904	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.446000	0.73460	2.120000	0.65058	0.411000	0.27672	GAG		PASS	0.318	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		33	184	33	184	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55110699	55110699	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:55110699C>G	ENST00000314721.2	+	1	73	c.23C>G	c.(22-24)aCa>aGa	p.T8R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T8R(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AGCAATGTTACAGAATTTGTC	0.373																																						uc010rie.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(22-24)ACA>AGA		olfactory receptor, family 4, subfamily A,							50.0	44.0	46.0					11																	55110699		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110699C>G	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.23C>G	11.37:g.55110699C>G	ENSP00000325128:p.Thr8Arg						p.T8R	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	23	+			8			Extracellular (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.23C>G	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	11.95	1.791809	0.31685	.	.	ENSG00000181961	ENST00000314721	T	0.02177	4.41	2.41	2.41	0.29592	.	.	.	.	.	T	0.11324	0.0276	M	0.83603	2.65	0.35219	D	0.775854	D	0.89917	1.0	D	0.71184	0.972	T	0.11251	-1.0595	9	0.87932	D	0	.	10.4813	0.44695	0.0:1.0:0.0:0.0	.	8	Q8NH70	O4A16_HUMAN	R	8	ENSP00000325128:T8R	ENSP00000325128:T8R	T	+	2	0	OR4A16	54867275	0.001000	0.12720	0.958000	0.39756	0.072000	0.16883	0.703000	0.25646	1.353000	0.45828	0.185000	0.17295	ACA		PASS	0.373	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		12	80	12	80	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55111057	55111057	+	Silent	SNP	G	G	C	rs76791457	byFrequency	TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:55111057G>C	ENST00000314721.2	+	1	431	c.381G>C	c.(379-381)ccG>ccC	p.P127P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P127P(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCTCTAAGCCGCTGCACTATT	0.468																																						uc010rie.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(379-381)CCG>CCC		olfactory receptor, family 4, subfamily A,							182.0	166.0	171.0					11																	55111057		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111057G>C	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.381G>C	11.37:g.55111057G>C							p.P127P	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	381	+			127			Cytoplasmic (Potential).		Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.381G>C	CCDS31499.1																																																																																				PASS	0.468	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		52	291	52	291	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861587	55861587	+	Silent	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:55861587C>A	ENST00000302124.2	+	1	835	c.804C>A	c.(802-804)acC>acA	p.T268T		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T268T(2)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CATCGCTGACCCAGGCGCAGG	0.458																																						uc010rix.1																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(802-804)ACC>ACA		olfactory receptor, family 8, subfamily I,							97.0	94.0	95.0					11																	55861587		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861587C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.804C>A	11.37:g.55861587C>A							p.T268T	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	804	+	Esophageal squamous(21;0.00693)		268			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.804C>A	CCDS31517.1																																																																																				PASS	0.458	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		23	154	23	154	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56057843	56057843	+	Silent	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:56057843T>C	ENST00000313022.2	-	1	723	c.696A>G	c.(694-696)ggA>ggG	p.G232G		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G232G(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CTTTCTGCTTTCCTGAAGTGG	0.378																																						uc010rje.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(694-696)GGA>GGG		olfactory receptor, family 8, subfamily H,							120.0	112.0	115.0					11																	56057843		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057843T>C	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.696A>G	11.37:g.56057843T>C							p.G232G	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	696	-	Esophageal squamous(21;0.00448)		232			Cytoplasmic (Potential).		B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.696A>G	CCDS31526.1																																																																																				PASS	0.378	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		23	171	23	171	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57069961	57069961	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:57069961G>A	ENST00000532437.1	-	6	4966	c.4655C>T	c.(4654-4656)tCc>tTc	p.S1552F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1552F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1552	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.S1552F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGACTGGGGGATCTGGCAGG	0.632																																						uc001njr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(4654-4656)TCC>TTC		tankyrase 1-binding protein 1							32.0	36.0	35.0					11																	57069961		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57069961G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4655C>T	11.37:g.57069961G>A	ENSP00000437271:p.Ser1552Phe					TNKS1BP1_uc001njp.2_Missense_Mutation_p.S124F|TNKS1BP1_uc001njq.2_Missense_Mutation_p.S124F|TNKS1BP1_uc001njs.2_Missense_Mutation_p.S1552F	p.S1552F	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			6	4967	-		all_epithelial(135;0.21)	1552			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4655C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373695	0.61624	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33216	1.42;1.42	4.68	3.76	0.43208	.	1.775810	0.02549	N	0.095483	T	0.34542	0.0901	L	0.46157	1.445	0.09310	N	1	P;P	0.39624	0.681;0.545	B;B	0.38755	0.281;0.206	T	0.37079	-0.9721	10	0.66056	D	0.02	-2.9816	10.4439	0.44481	0.0:0.26:0.74:0.0	.	1552;133	Q9C0C2;Q86TK2	TB182_HUMAN;.	F	1552	ENSP00000350990:S1552F;ENSP00000437271:S1552F	ENSP00000350990:S1552F	S	-	2	0	TNKS1BP1	56826537	0.007000	0.16637	0.331000	0.25455	0.546000	0.35178	1.787000	0.38704	1.081000	0.41110	0.561000	0.74099	TCC		PASS	0.632	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		10	39	10	39	---	---	---	---
TUT1	64852	broad.mit.edu	37	11	62348921	62348921	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:62348921C>T	ENST00000476907.1	-	3	1217	c.526G>A	c.(526-528)Gag>Aag	p.E176K	MIR3654_ENST00000496634.2_Missense_Mutation_p.E176K|TUT1_ENST00000308436.7_Missense_Mutation_p.E214K			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	176					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.E176K(1)|p.E214K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCTGCCGCTCGGCCTCGGAC	0.607																																						uc001nto.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(640-642)GAG>AAG		terminal uridylyl transferase 1, U6							43.0	40.0	41.0					11																	62348921		2202	4299	6501	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62348921C>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.526G>A	11.37:g.62348921C>T	ENSP00000419607:p.Glu176Lys						p.E214K	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			3	678	-			176					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.640G>A		.	.	.	.	.	.	.	.	.	.	C	28.1	4.888050	0.91814	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000494385	T;T;T	0.51574	0.7;0.7;0.7	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.67397	2.05	0.38999	D	0.959315	D	0.89917	1.0	D	0.74674	0.984	T	0.70850	-0.4760	10	0.59425	D	0.04	-11.3976	16.681	0.85291	0.0:1.0:0.0:0.0	.	214	F5H0R1	.	K	214;176;90	ENSP00000308000:E214K;ENSP00000419607:E176K;ENSP00000420739:E90K	ENSP00000441670:E176K	E	-	1	0	TUT1	62105497	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.209000	0.65208	2.516000	0.84829	0.555000	0.69702	GAG		PASS	0.607	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		4	58	4	58	---	---	---	---
SLC22A6	9356	broad.mit.edu	37	11	62747414	62747414	+	Silent	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:62747414G>T	ENST00000377871.3	-	7	1310	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Silent_p.A348A|SLC22A6_ENST00000360421.4_Silent_p.A348A|SLC22A6_ENST00000458333.2_Silent_p.A348A	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	348					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A348A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CAAAGCTAGTGGCAAACCTAG	0.512																																						uc001nwk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1042-1044)GCC>GCA		solute carrier family 22 member 6 isoform a							48.0	45.0	46.0					11																	62747414		2201	4298	6499	SO:0001819	synonymous_variant	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62747414G>T	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1044C>A	11.37:g.62747414G>T						SLC22A6_uc001nwl.2_Silent_p.A348A|SLC22A6_uc001nwj.2_Silent_p.A348A|SLC22A6_uc001nwm.2_Silent_p.A348A	p.A348A	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			7	1351	-			348			Helical; (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	c.1044C>A	CCDS31591.1																																																																																				PASS	0.512	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		11	72	11	72	---	---	---	---
NDUFS8	4728	broad.mit.edu	37	11	67800460	67800460	+	Silent	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:67800460G>T	ENST00000313468.5	+	4	287	c.180G>T	c.(178-180)ctG>ctT	p.L60L	RP5-901A4.1_ENST00000532296.1_RNA|MIR4691_ENST00000583764.1_RNA|NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	60					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L60L(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)	8						GCACCCTGCTGTGGACTGAGC	0.657																																					Colon(116;1205 2770 20054)	uc001onc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(178-180)CTG>CTT		NADH dehydrogenase ubiquinone Fe-S 8 precursor	NADH(DB00157)						85.0	78.0	80.0					11																	67800460		2200	4294	6494	SO:0001819	synonymous_variant	4728				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67800460G>T	U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.180G>T	11.37:g.67800460G>T						NDUFS8_uc010rpz.1_Silent_p.L60L|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Silent_p.L60L	p.L60L	NM_002496	NP_002487	O00217	NDUS8_HUMAN			4	287	+			60					B2RB86|Q0VDA8	Silent	SNP	ENST00000313468.5	37	c.180G>T	CCDS8176.1																																																																																				PASS	0.657	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		12	89	12	89	---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72316271	72316271	+	Splice_Site	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:72316271C>T	ENST00000334456.5	-	4	480		c.e4-1		PDE2A_ENST00000540345.1_Splice_Site|PDE2A_ENST00000540380.1_Splice_Site|PDE2A_ENST00000376450.3_Splice_Site|PDE2A_ENST00000444035.2_Splice_Site|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000544570.1_Splice_Site	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	AGACAGTTTCCTAGGACAGAA	0.597																																						uc010rrc.1																			1	Unknown(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.e4-1		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						58.0	49.0	52.0					11																	72316271		2200	4293	6493	SO:0001630	splice_region_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72316271C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.235-1G>A	11.37:g.72316271C>T						PDE2A_uc001oso.2_Splice_Site_p.E58_splice|PDE2A_uc010rra.1_Splice_Site_p.E72_splice|PDE2A_uc001osn.2_Splice_Site_p.E72_splice|PDE2A_uc010rrb.1_Splice_Site_p.E70_splice|PDE2A_uc010rrd.1_Intron	p.E79_splice	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		4	478	-								B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Splice_Site	SNP	ENST00000334456.5	37	c.235_splice	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859783	0.71834	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000540345;ENST00000538749;ENST00000542969	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6799	0.69009	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE2A	71993919	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.649000	0.61433	2.537000	0.85549	0.561000	0.74099	.		PASS	0.597	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599	Intron	13	54	13	54	---	---	---	---
PRKRIR	5612	broad.mit.edu	37	11	76062339	76062339	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:76062339T>A	ENST00000260045.3	-	5	1960	c.1855A>T	c.(1855-1857)Acg>Tcg	p.T619S	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	619					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T619S(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TCCTCCGACGTATTGAATTTG	0.418																																						uc001oxh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1855-1857)ACG>TCG		protein-kinase, interferon-inducible double							158.0	142.0	147.0					11																	76062339		2200	4292	6492	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062339T>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1855A>T	11.37:g.76062339T>A	ENSP00000260045:p.Thr619Ser					PRKRIR_uc010rrz.1_Missense_Mutation_p.T444S	p.T619S	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1855	-			619					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1855A>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.367062	0.41902	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.21031	2.03;2.03	5.33	5.33	0.75918	Ribonuclease H-like (1);	0.084767	0.85682	D	0.000000	T	0.23410	0.0566	M	0.64997	1.995	0.58432	D	0.999991	B	0.24675	0.109	B	0.21546	0.035	T	0.04930	-1.0917	10	0.15952	T	0.53	.	15.7426	0.77914	0.0:0.0:0.0:1.0	.	619	O43422	P52K_HUMAN	S	444;619	ENSP00000436249:T444S;ENSP00000260045:T619S	ENSP00000260045:T619S	T	-	1	0	PRKRIR	75739987	1.000000	0.71417	0.866000	0.34008	0.912000	0.54170	3.600000	0.54052	2.191000	0.70037	0.524000	0.50904	ACG		PASS	0.418	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		46	293	46	293	---	---	---	---
AMOTL1	154810	broad.mit.edu	37	11	94554932	94554932	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:94554932G>C	ENST00000433060.2	+	4	1499	c.1358G>C	c.(1357-1359)cGg>cCg	p.R453P	AMOTL1_ENST00000317829.8_Missense_Mutation_p.R403P|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	453					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.R453P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GAGGAGAACCGGGTGCTTCAC	0.572																																						uc001pfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1357-1359)CGG>CCG		angiomotin like 1							92.0	96.0	95.0					11																	94554932		1973	4167	6140	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554932G>C	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1358G>C	11.37:g.94554932G>C	ENSP00000387739:p.Arg453Pro					AMOTL1_uc001pfc.2_Missense_Mutation_p.R403P	p.R453P	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			4	1528	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	453			Potential.		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.1358G>C	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158230	0.57368	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.21361	2.01;2.01	5.92	5.02	0.67125	.	0.253327	0.33732	N	0.004601	T	0.27313	0.0670	L	0.27053	0.805	0.80722	D	1	D;P	0.52996	0.957;0.657	P;B	0.60286	0.872;0.425	T	0.02639	-1.1130	10	0.49607	T	0.09	-25.3127	9.6623	0.39962	0.1963:0.0:0.8037:0.0	.	403;453	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	P	403;459;453	ENSP00000320968:R403P;ENSP00000387739:R453P	ENSP00000320968:R403P	R	+	2	0	AMOTL1	94194580	0.980000	0.34600	0.943000	0.38184	0.997000	0.91878	3.084000	0.50143	1.525000	0.49052	0.561000	0.74099	CGG		PASS	0.572	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		4	110	4	110	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94704613	94704613	+	5'Flank	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:94704613C>A	ENST00000335080.5	+	0	0				CWC15_ENST00000279839.6_Missense_Mutation_p.R57L|CWC15_ENST00000545018.1_5'UTR|KDM4D_ENST00000536741.1_5'Flank	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGAAGTCACGGTTACGAAC	0.453																																						uc001pfd.3																			0					0						c.(169-171)CGT>CTT		CWC15 homolog							57.0	53.0	54.0					11																	94704613		1848	4096	5944	SO:0001631	upstream_gene_variant	51503				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding	g.chr11:94704613C>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94704613C>A	Exception_encountered					CWC15_uc009ywl.1_Missense_Mutation_p.R57L|KDM4D_uc001pfe.2_5'Flank	p.R57L	NM_016403	NP_057487	Q9P013	CWC15_HUMAN			3	293	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	57			Potential.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.170G>T	CCDS8302.1																																																																																				PASS	0.453	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		5	32	5	32	---	---	---	---
ZPR1	8882	broad.mit.edu	37	11	116649706	116649706	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:116649706C>T	ENST00000227322.3	-	14	1374	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		439					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)	p.E439K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCTAGCTCCTCATTTTGGTCA	0.562																																						uc001ppp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1315-1317)GAG>AAG		zinc finger protein 259							146.0	114.0	125.0					11																	116649706		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116649706C>T																												ENST00000227322.3:c.1315G>A	11.37:g.116649706C>T	ENSP00000227322:p.Glu439Lys					ZNF259_uc009yzd.2_Missense_Mutation_p.E410K|ZNF259_uc001ppq.2_Missense_Mutation_p.E369K	p.E439K	NM_003904	NP_003895	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	14	1348	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	439					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.1315G>A	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.707054|5.707054	0.96821|0.96821	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000444935	T|.	0.56275|.	0.47|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Zinc finger, ZPR1-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87450|0.87450	0.6180|0.6180	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;P|.	0.69078|.	0.997;0.831|.	P;P|.	0.56612|.	0.802;0.482|.	D|D	0.90871|0.90871	0.4746|0.4746	10|5	0.87932|.	D|.	0|.	-23.4813|-23.4813	18.9974|18.9974	0.92818|0.92818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	388;439|.	B4DVT8;O75312|.	.;ZPR1_HUMAN|.	K|I	439|409	ENSP00000227322:E439K|.	ENSP00000227322:E439K|.	E|M	-|-	1|3	0|0	ZNF259|ZNF259	116154916|116154916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.395000|7.395000	0.79876|0.79876	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	GAG|ATG		PASS	0.562	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			15	111	15	111	---	---	---	---
C1QTNF5	114902	broad.mit.edu	37	11	119216246	119216246	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr11:119216246C>A	ENST00000445041.2	-	0	684				MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.Q175H|MFRP_ENST00000530681.1_Missense_Mutation_p.Q175H|MFRP_ENST00000449574.2_Missense_Mutation_p.Q175H|MFRP_ENST00000555262.1_Missense_Mutation_p.Q175H	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5							collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)		p.Q175H(1)		endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGTGGCCACCTGGATATGCC	0.582																																						uc001pwj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)CAG>CAT		membrane frizzled-related protein							65.0	62.0	63.0					11																	119216246		2199	4295	6494			83552					collagen		g.chr11:119216246C>A	AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000445041.2:c.-2112G>T	11.37:g.119216246C>A						MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.Q175H	p.Q175H	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	5	685	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Missense_Mutation	SNP	ENST00000445041.2	37	c.525G>T	CCDS8420.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912562	0.52439	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.19250	2.16;2.16;2.16	4.0	1.04	0.20106	CUB (5);	0.429531	0.24139	N	0.041195	T	0.27559	0.0677	L	0.34521	1.04	0.40764	D	0.983031	D;D	0.71674	0.998;0.982	D;P	0.66196	0.942;0.831	T	0.02214	-1.1194	10	0.52906	T	0.07	-7.6353	7.8616	0.29514	0.0:0.6664:0.0:0.3336	.	175;175	B4DHN8;Q9BY79	.;MFRP_HUMAN	H	175	ENSP00000450509:Q175H;ENSP00000391664:Q175H;ENSP00000353291:Q175H	ENSP00000353291:Q175H	Q	-	3	2	MFRP	118721456	1.000000	0.71417	0.999000	0.59377	0.795000	0.44927	1.449000	0.35123	0.117000	0.18138	0.555000	0.69702	CAG		PASS	0.582	C1QTNF5-201	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding		NM_015645		12	91	12	91	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	863029	863029	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:863029C>G	ENST00000315939.6	+	1	941	c.298C>G	c.(298-300)Ctt>Gtt	p.L100V	WNK1_ENST00000447667.2_Missense_Mutation_p.L100V|WNK1_ENST00000535572.1_Missense_Mutation_p.L100V|WNK1_ENST00000537687.1_Missense_Mutation_p.L100V|WNK1_ENST00000530271.2_Missense_Mutation_p.L100V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	100					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.L100V(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CGGCCTTCCTCTTTCCCTGCC	0.682																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(298-300)CTT>GTT		WNK lysine deficient protein kinase 1							25.0	29.0	27.0					12																	863029		2202	4300	6502	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:863029C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.298C>G	12.37:g.863029C>G	ENSP00000313059:p.Leu100Val					WNK1_uc001qin.2_Missense_Mutation_p.L100V|WNK1_uc001qip.3_Missense_Mutation_p.L100V	p.L100V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		1	805	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		100					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.298C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.666397	0.00105	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.70516	-0.42;-0.39;-0.38;-0.49;-0.41	4.42	2.59	0.31030	.	0.157535	0.29707	N	0.011415	T	0.55940	0.1952	L	0.47716	1.5	0.22240	N	0.999264	P;P;B	0.40476	0.718;0.596;0.0	B;B;B	0.32762	0.152;0.073;0.001	T	0.47560	-0.9108	10	0.40728	T	0.16	-7.6844	8.3907	0.32526	0.0:0.6257:0.2942:0.08	.	100;100;100	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	V	100	ENSP00000441972:L100V;ENSP00000313059:L100V;ENSP00000444465:L100V;ENSP00000392542:L100V;ENSP00000433548:L100V	ENSP00000313059:L100V	L	+	1	0	WNK1	733290	0.001000	0.12720	0.006000	0.13384	0.009000	0.06853	0.589000	0.23939	0.496000	0.27904	-0.264000	0.10439	CTT		PASS	0.682	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		9	32	9	32	---	---	---	---
ART4	420	broad.mit.edu	37	12	14993526	14993526	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:14993526C>T	ENST00000228936.4	-	2	1087	c.706G>A	c.(706-708)Gta>Ata	p.V236I	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	236					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)	p.V236I(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AAGTACTGTACAGGTGCACCC	0.468																																						uc001rcl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(706-708)GTA>ATA		ADP-ribosyltransferase 4 precursor							113.0	112.0	112.0					12																	14993526		2203	4300	6503	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993526C>T	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.706G>A	12.37:g.14993526C>T	ENSP00000228936:p.Val236Ile					ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.V236I	p.V236I	NM_021071	NP_066549	Q93070	NAR4_HUMAN			2	1072	-			236					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.706G>A	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	C	0.342	-0.950165	0.02285	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.02863	4.13;4.13	4.35	2.28	0.28536	.	0.308810	0.34906	N	0.003581	T	0.01870	0.0059	L	0.28556	0.865	0.09310	N	0.999999	P;B	0.36768	0.569;0.236	B;B	0.35770	0.21;0.21	T	0.42310	-0.9459	10	0.10111	T	0.7	-16.177	4.5281	0.11992	0.0:0.6069:0.1797:0.2134	.	236;236	A8K6J7;Q93070	.;NAR4_HUMAN	I	236;219	ENSP00000228936:V236I;ENSP00000405689:V219I	ENSP00000228936:V236I	V	-	1	0	ART4	14884793	0.000000	0.05858	0.894000	0.35097	0.769000	0.43574	-0.457000	0.06745	0.647000	0.30713	0.563000	0.77884	GTA		PASS	0.468	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		19	110	19	110	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21068990	21068990	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:21068990T>C	ENST00000381545.3	+	16	2137	c.1918T>C	c.(1918-1920)Tat>Cat	p.Y640H	SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.Y640H	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	640					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.Y640H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ACTTGTTTTATATATTGTTTT	0.303																																						uc001rek.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1918-1920)TAT>CAT		solute carrier organic anion transporter family,							65.0	67.0	66.0					12																	21068990		2201	4299	6500	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21068990T>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1918T>C	12.37:g.21068990T>C	ENSP00000370956:p.Tyr640His					SLCO1B3_uc001rel.2_Missense_Mutation_p.Y640H|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	p.Y640H	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			15	2044	+	Esophageal squamous(101;0.149)		640			Helical; Name=12; (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1918T>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	2.289	-0.362868	0.05103	.	.	ENSG00000111700	ENST00000261196;ENST00000381545	T;T	0.58652	0.32;0.32	3.6	2.43	0.29744	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.875460	0.02296	N	0.070727	T	0.46870	0.1415	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.17258	-1.0375	10	0.22109	T	0.4	.	5.7479	0.18130	0.0:0.1322:0.0:0.8678	.	640	Q9NPD5	SO1B3_HUMAN	H	640	ENSP00000261196:Y640H;ENSP00000370956:Y640H	ENSP00000261196:Y640H	Y	+	1	0	SLCO1B3	20960257	0.019000	0.18553	0.003000	0.11579	0.006000	0.05464	0.668000	0.25127	0.395000	0.25257	0.445000	0.29226	TAT		PASS	0.303	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		14	75	14	75	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29725064	29725064	+	Silent	SNP	C	C	A	rs568144280		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:29725064C>A	ENST00000539277.1	-	9	1564	c.1506G>T	c.(1504-1506)gcG>gcT	p.A502A	TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000381224.2_Silent_p.A456A|TMTC1_ENST00000551659.1_Silent_p.A564A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Silent_p.A394A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	502						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A394A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGTGGTAGATCGCTTCCTTGT	0.478																																						uc001rjb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1180-1182)GCG>GCT		transmembrane and tetratricopeptide repeat							190.0	152.0	165.0					12																	29725064		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29725064C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1506G>T	12.37:g.29725064C>A						TMTC1_uc001riz.2_Silent_p.A151A|TMTC1_uc001rja.2_Silent_p.A238A|TMTC1_uc001rjc.1_Silent_p.A456A	p.A394A	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			9	1656	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		502			TPR 1.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.1182G>T	CCDS53772.1																																																																																				PASS	0.478	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		12	86	12	86	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43821158	43821158	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:43821158A>T	ENST00000389420.3	-	27	4059	c.4060T>A	c.(4060-4062)Tgt>Agt	p.C1354S	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.C472S|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C1354S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1354	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1354S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCTGGACCACATTGCTGTAAC	0.458																																						uc010skx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(4060-4062)TGT>AGT		a disintegrin-like and metalloprotease with							116.0	91.0	99.0					12																	43821158		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43821158A>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4060T>A	12.37:g.43821158A>T	ENSP00000374071:p.Cys1354Ser					ADAMTS20_uc001rno.1_Missense_Mutation_p.C472S	p.C1354S	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	27	4060	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1354			TSP type-1 9.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4060T>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760816	0.69763	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	D;D;D;D	0.96459	-1.51;-4.02;-4.02;-1.51	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000019	D	0.99064	0.9679	H	0.99697	4.71	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.75020	0.939;0.985	D	0.98776	1.0730	10	0.87932	D	0	.	15.2937	0.73885	1.0:0.0:0.0:0.0	.	1354;472	P59510;E9PBD5	ATS20_HUMAN;.	S	1354;484;472;1354;1354	ENSP00000374071:C1354S;ENSP00000447427:C484S;ENSP00000378911:C472S;ENSP00000448341:C1354S	ENSP00000374068:C1354S	C	-	1	0	ADAMTS20	42107425	1.000000	0.71417	0.997000	0.53966	0.419000	0.31324	8.865000	0.92300	2.156000	0.67533	0.528000	0.53228	TGT		PASS	0.458	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		18	92	18	92	---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48440158	48440158	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:48440158C>G	ENST00000004980.5	-	17	2331	c.1853G>C	c.(1852-1854)aGa>aCa	p.R618T	SENP1_ENST00000448372.1_Missense_Mutation_p.R617T|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Missense_Mutation_p.R618T|SENP1_ENST00000549518.1_Missense_Mutation_p.R618T|SENP1_ENST00000549595.1_Missense_Mutation_p.R617T			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	618					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.R617T(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GTTGATTGGTCTGTCTTTGGT	0.443																																						uc001rqx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|lung(1)	3						c.(1852-1854)AGA>ACA		sentrin/SUMO-specific protease 1							198.0	189.0	192.0					12																	48440158		1960	4150	6110	SO:0001583	missense	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48440158C>G	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1853G>C	12.37:g.48440158C>G	ENSP00000004980:p.Arg618Thr					SENP1_uc001rqw.2_Missense_Mutation_p.R617T|SENP1_uc001rqy.2_Missense_Mutation_p.R419T|SENP1_uc001rqz.2_Missense_Mutation_p.R419T|SENP1_uc009zkx.2_Missense_Mutation_p.R618T	p.R618T	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			17	2299	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	618					A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	c.1853G>C	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799655	0.50208	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.42900	0.96;1.55;0.96;1.55;0.96	5.69	5.69	0.88448	.	0.049081	0.85682	D	0.000000	T	0.32255	0.0823	L	0.31845	0.965	0.80722	D	1	B;B	0.25609	0.13;0.107	B;B	0.31101	0.124;0.076	T	0.15292	-1.0442	10	0.41790	T	0.15	-7.1634	7.842	0.29403	0.0:0.8049:0.0:0.1951	.	618;617	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	T	618;617;618;617;618	ENSP00000004980:R618T;ENSP00000394791:R617T;ENSP00000446681:R618T;ENSP00000450076:R617T;ENSP00000447328:R618T	ENSP00000004980:R618T	R	-	2	0	SENP1	46726425	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.018000	0.57174	2.676000	0.91093	0.563000	0.77884	AGA		PASS	0.443	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		35	178	35	178	---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49231121	49231121	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:49231121C>G	ENST00000308025.3	-	8	888	c.809G>C	c.(808-810)cGg>cCg	p.R270P	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	270					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.R270P(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						AACAAATTTCCGGTCATTGAG	0.512																																						uc001rsm.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(808-810)CGG>CCG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							140.0	134.0	136.0					12																	49231121		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.chr12:49231121C>G	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.809G>C	12.37:g.49231121C>G	ENSP00000310723:p.Arg270Pro						p.R270P	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			8	900	-			270					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.809G>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906244	0.92107	.	.	ENSG00000174243	ENST00000550834;ENST00000308025	T	0.21932	1.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	M	0.76938	2.355	0.80722	D	1	D	0.69078	0.997	P	0.60682	0.878	T	0.45056	-0.9287	10	0.87932	D	0	-8.0814	16.7174	0.85400	0.0:1.0:0.0:0.0	.	270	Q9BUQ8	DDX23_HUMAN	P	114;270	ENSP00000310723:R270P	ENSP00000310723:R270P	R	-	2	0	DDX23	47517388	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.746000	0.85057	2.687000	0.91594	0.462000	0.41574	CGG		PASS	0.512	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		12	130	12	130	---	---	---	---
RHEBL1	121268	broad.mit.edu	37	12	49460814	49460814	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:49460814G>C	ENST00000301068.6	-	3	368	c.129C>G	c.(127-129)taC>taG	p.Y43*		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	43					GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.Y43*(1)		breast(2)|large_intestine(2)|lung(5)	9						CTATCTTGCTGTAAGCTGAAA	0.423																																						uc001rtc.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|breast(1)	2						c.(127-129)TAC>TAG		Ras homolog enriched in brain like 1 precursor							93.0	75.0	81.0					12																	49460814		2203	4300	6503	SO:0001587	stop_gained	121268				positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:49460814G>C	AK098663	CCDS8778.1	12q13.12	2014-05-09				ENSG00000167550			21166	protein-coding gene	gene with protein product						12477932	Standard	NM_144593		Approved	MGC34869, FLJ25797	uc001rtc.1	Q8TAI7	OTTHUMG00000170407	ENST00000301068.6:c.129C>G	12.37:g.49460814G>C	ENSP00000301068:p.Tyr43*					RHEBL1_uc001rtd.1_Nonsense_Mutation_p.Y39*|RHEBL1_uc009zlc.1_Intron	p.Y43*	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN			3	336	-			43			Effector region (By similarity).		Q56VH8	Nonsense_Mutation	SNP	ENST00000301068.6	37	c.129C>G	CCDS8778.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289837	0.95546	.	.	ENSG00000167550	ENST00000301068;ENST00000550675	.	.	.	5.34	5.34	0.76211	.	0.173103	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	16.355	0.83232	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000301068:Y43X	Y	-	3	2	RHEBL1	47747081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.005000	0.49521	2.677000	0.91161	0.655000	0.94253	TAC		PASS	0.423	RHEBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408969.1	NM_144593		21	119	21	119	---	---	---	---
HOXC12	3228	broad.mit.edu	37	12	54348956	54348957	+	Missense_Mutation	DNP	CA	CA	TT			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:54348956_54348957CA>TT	ENST00000243103.3	+	1	339_340	c.243_244CA>TT	c.(241-246)cgCAcg>cgTTcg	p.T82S	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	82					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T82S(2)|p.R81R(1)		large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCTTCGGCCGCACGTGCGAGCT	0.718																																						uc010soq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	upper_aerodigestive_tract(1)	1						c.(241-243)CGC>CGT|c.(244-246)ACG>TCG		homeobox C12																																				SO:0001583	missense	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54348956C>T|g.chr12:54348957A>T	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	Exception_encountered	12.37:g.54348956_54348957delinsTT	ENSP00000243103:p.Thr82Ser						p.R81R|p.T82S	NM_173860	NP_776272	P31275	HXC12_HUMAN			1	243|244	+			81|82					Q9BXJ6	Silent|Missense_Mutation	SNP	ENST00000243103.3	37	c.243C>T|c.244A>T	CCDS8866.1																																																																																				PASS	0.718	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		3	9	3	9	---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715190	55715190	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:55715190C>A	ENST00000379668.2	+	1	845	c.807C>A	c.(805-807)agC>agA	p.S269R		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S269R(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTCCTTGAGCAAGGGAGTGG	0.423																																						uc010spi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(805-807)AGC>AGA		olfactory receptor, family 6, subfamily C,							142.0	134.0	137.0					12																	55715190		2203	4300	6503	SO:0001583	missense	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55715190C>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.807C>A	12.37:g.55715190C>A	ENSP00000368990:p.Ser269Arg						p.S269R	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	807	+			269			Extracellular (Potential).		B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	c.807C>A	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	c	16.91	3.253621	0.59212	.	.	ENSG00000205330	ENST00000379668	T	0.00099	8.73	5.34	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.250022	0.35585	N	0.003108	T	0.00210	0.0006	L	0.35249	1.045	0.28912	N	0.892643	B	0.30741	0.293	P	0.45343	0.477	T	0.08452	-1.0721	10	0.87932	D	0	.	10.6374	0.45573	0.0:0.7868:0.0:0.2132	.	269	Q96RD1	OR6C1_HUMAN	R	269	ENSP00000368990:S269R	ENSP00000368990:S269R	S	+	3	2	OR6C1	54001457	0.003000	0.15002	0.996000	0.52242	0.817000	0.46193	0.064000	0.14437	0.823000	0.34589	0.655000	0.94253	AGC		PASS	0.423	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		26	230	26	230	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56426419	56426419	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:56426419G>C	ENST00000262032.5	+	10	1157	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	IKZF4_ENST00000431367.2_Missense_Mutation_p.E162Q|IKZF4_ENST00000547791.1_Missense_Mutation_p.E219Q|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.E264Q			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	264					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E264Q(1)|p.E223Q(1)		NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAGTACCCTGGAGGAGCACAA	0.547																																						uc001sjb.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(790-792)GAG>CAG		zinc finger protein, subfamily 1A, 4							73.0	75.0	74.0					12																	56426419		2093	4226	6319	SO:0001583	missense	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56426419G>C	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.790G>C	12.37:g.56426419G>C	ENSP00000262032:p.Glu264Gln					IKZF4_uc010sqa.1_Missense_Mutation_p.E217Q|IKZF4_uc001sjc.1_Missense_Mutation_p.E264Q|IKZF4_uc001sjd.1_Missense_Mutation_p.E162Q|IKZF4_uc009zoi.1_Missense_Mutation_p.E219Q|IKZF4_uc001sje.1_Missense_Mutation_p.E223Q	p.E264Q	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		7	949	+			264			C2H2-type 4.		Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	c.790G>C	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208763	0.95069	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000061	T	0.47002	0.1422	N	0.03967	-0.31	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.999;0.994;0.998;0.996	T	0.56619	-0.7949	10	0.33940	T	0.23	-8.5792	17.9029	0.88910	0.0:0.0:1.0:0.0	.	162;219;223;264	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	Q	264;162;264;219	ENSP00000262032:E264Q;ENSP00000412101:E162Q;ENSP00000448419:E264Q;ENSP00000450020:E219Q	ENSP00000262032:E264Q	E	+	1	0	IKZF4	54712686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.768000	0.95171	0.561000	0.74099	GAG		PASS	0.547	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		16	54	16	54	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57573625	57573625	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:57573625G>A	ENST00000243077.3	+	30	5493	c.5027G>A	c.(5026-5028)aGc>aAc	p.S1676N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1676					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.S1676N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTCTGGACAAGCTATGACACC	0.582																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(5026-5028)AGC>AAC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						128.0	129.0	129.0					12																	57573625		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57573625G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5027G>A	12.37:g.57573625G>A	ENSP00000243077:p.Ser1676Asn						p.S1676N	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	30	5493	+			1676			Extracellular (Potential).|LDL-receptor class B 14.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.5027G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914870	0.72983	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.57	4.57	0.56435	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	N	0.16368	0.405	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	D	0.87606	0.2500	10	0.20046	T	0.44	.	16.2887	0.82737	0.0:0.0:1.0:0.0	.	1676	Q07954	LRP1_HUMAN	N	1676	ENSP00000243077:S1676N	ENSP00000243077:S1676N	S	+	2	0	LRP1	55859892	1.000000	0.71417	0.968000	0.41197	0.982000	0.71751	9.648000	0.98483	2.383000	0.81215	0.655000	0.94253	AGC		PASS	0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		39	197	39	197	---	---	---	---
IL22	50616	broad.mit.edu	37	12	68646350	68646350	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:68646350C>A	ENST00000538666.1	-	4	400	c.330G>T	c.(328-330)agG>agT	p.R110S	IL22_ENST00000328087.4_Missense_Mutation_p.R110S			Q9GZX6	IL22_HUMAN	interleukin 22	110					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)	p.R110S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		AAGGCTGGAACCTATCAGATT	0.527																																						uc001sty.1																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)AGG>AGT		interleukin 22 precursor							132.0	106.0	115.0					12																	68646350		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68646350C>A	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.330G>T	12.37:g.68646350C>A	ENSP00000442424:p.Arg110Ser					IL22_uc010stb.1_Missense_Mutation_p.R110S	p.R110S	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	3	383	-		Myeloproliferative disorder(1001;0.0255)	110						Missense_Mutation	SNP	ENST00000538666.1	37	c.330G>T	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	c	12.94	2.089833	0.36855	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.49139	0.79;0.79	4.98	-5.15	0.02866	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.669254	0.14713	N	0.302827	T	0.27313	0.0670	L	0.35414	1.06	0.19300	N	0.999971	P	0.41188	0.741	B	0.35607	0.206	T	0.20907	-1.0261	9	.	.	.	-6.5753	9.7808	0.40647	0.0:0.5662:0.2502:0.1836	.	110	Q9GZX6	IL22_HUMAN	S	110	ENSP00000442424:R110S;ENSP00000329384:R110S	.	R	-	3	2	IL22	66932617	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.459000	0.02370	-0.810000	0.04375	0.558000	0.71614	AGG		PASS	0.527	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		16	95	16	95	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78516094	78516094	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:78516094C>A	ENST00000397909.2	+	16	4297	c.4124C>A	c.(4123-4125)tCc>tAc	p.S1375Y	NAV3_ENST00000228327.6_Missense_Mutation_p.S1375Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S1375Y|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1375	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S1375Y(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCTCTGAGTCCATTGACCTC	0.572										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4123-4125)TCC>TAC		neuron navigator 3							125.0	116.0	119.0					12																	78516094		2023	4192	6215	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78516094C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4124C>A	12.37:g.78516094C>A	ENSP00000381007:p.Ser1375Tyr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S1375Y|NAV3_uc010sub.1_Missense_Mutation_p.S875Y|NAV3_uc009zsf.2_Intron	p.S1375Y	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	4297	+			1375			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4124C>A		.	.	.	.	.	.	.	.	.	.	C	19.99	3.929345	0.73327	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000378640;ENST00000550788	T;T;T;T	0.51325	0.71;0.76;0.73;1.55	5.96	5.96	0.96718	.	0.000000	0.40064	U	0.001198	T	0.72366	0.3451	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.99;0.998;0.952	T	0.73717	-0.3895	10	0.87932	D	0	-2.2181	20.4082	0.99013	0.0:1.0:0.0:0.0	.	1375;1375;1375	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	Y	1375;1375;1375;10;18	ENSP00000446132:S1375Y;ENSP00000381007:S1375Y;ENSP00000228327:S1375Y;ENSP00000448303:S18Y	ENSP00000228327:S1375Y	S	+	2	0	NAV3	77040225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.874000	0.69652	2.814000	0.96858	0.655000	0.94253	TCC		PASS	0.572	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		22	175	22	175	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81777827	81777827	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:81777827G>C	ENST00000549396.1	-	9	1119	c.959C>G	c.(958-960)aCc>aGc	p.T320S	PPFIA2_ENST00000549325.1_Missense_Mutation_p.T302S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T246S|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T320S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T302S|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T167S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T221S|PPFIA2_ENST00000550584.2_Missense_Mutation_p.T320S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T320S	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	320	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.T320S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTGATACTTGGTGTTCATTTC	0.423																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(958-960)ACC>AGC		PTPRF interacting protein alpha 2							141.0	136.0	138.0					12																	81777827		1923	4131	6054	SO:0001583	missense	8499							g.chr12:81777827G>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.959C>G	12.37:g.81777827G>C	ENSP00000450337:p.Thr320Ser					PPFIA2_uc010sue.1_Missense_Mutation_p.T220S|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.T320S	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			9	1120	-			246					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.959C>G	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.206|3.206	-0.162732|-0.162732	0.06502|0.06502	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000548790|ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.|T;T;T;T;T;T;T	.|0.77750	.|1.34;1.34;1.34;-1.12;1.34;1.34;1.34	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.108729	.|0.64402	.|D	.|0.000009	T|T	0.55497|0.55497	0.1924|0.1924	N|N	0.04132|0.04132	-0.27|-0.27	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.55891|0.55891	-0.8069|-0.8069	5|10	.|0.06236	.|T	.|0.91	-19.2109|-19.2109	15.9859|15.9859	0.80151|0.80151	0.0:0.1711:0.8289:0.0|0.0:0.1711:0.8289:0.0	.|.	.|220;320	.|B7Z4H8;O75334	.|.;LIPA2_HUMAN	A|S	138|320;302;246;331;302;320;221;320	.|ENSP00000450337:T320S;ENSP00000450298:T302S;ENSP00000385093:T246S;ENSP00000327416:T302S;ENSP00000449338:T320S;ENSP00000388373:T221S;ENSP00000447868:T320S	.|ENSP00000327416:T302S	P|T	-|-	1|2	0|0	PPFIA2|PPFIA2	80301958|80301958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.339000|2.339000	0.43965|0.43965	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	CCA|ACC		PASS	0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			9	66	9	66	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104106206	104106206	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:104106206G>A	ENST00000388887.2	+	41	4600	c.4396G>A	c.(4396-4398)Ggg>Agg	p.G1466R		NM_017564.9	NP_060034.9			stabilin 2									p.G1466R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAAGGAAACGGGACCATCTG	0.512																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(4396-4398)GGG>AGG		stabilin 2 precursor							131.0	118.0	122.0					12																	104106206		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104106206G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4396G>A	12.37:g.104106206G>A	ENSP00000373539:p.Gly1466Arg					STAB2_uc009zug.2_RNA	p.G1466R	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			41	4582	+			1466			Extracellular (Potential).|EGF-like 11.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4396G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886275	0.72410	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.03607	3.87	5.96	5.96	0.96718	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.252893	0.38959	N	0.001511	T	0.21631	0.0521	M	0.91818	3.245	0.51767	D	0.999934	D	0.58620	0.983	P	0.54856	0.762	T	0.01786	-1.1274	10	0.87932	D	0	.	20.4047	0.99008	0.0:0.0:1.0:0.0	.	1466	Q8WWQ8	STAB2_HUMAN	R	1466;153	ENSP00000373539:G1466R	ENSP00000258495:G153R	G	+	1	0	STAB2	102630336	1.000000	0.71417	0.671000	0.29857	0.228000	0.25075	7.881000	0.87252	2.828000	0.97474	0.655000	0.94253	GGG		PASS	0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			22	121	22	121	---	---	---	---
KIAA1033	23325	broad.mit.edu	37	12	105543402	105543402	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:105543402A>T	ENST00000332180.5	+	25	2611	c.2524A>T	c.(2524-2526)Acc>Tcc	p.T842S		NM_015275.1	NP_056090.1			KIAA1033									p.T842S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGTTAATTTCACCTACCAGTT	0.224																																						uc001tld.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(2524-2526)ACC>TCC		hypothetical protein LOC23325							32.0	32.0	32.0					12																	105543402		1768	4019	5787	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105543402A>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2524A>T	12.37:g.105543402A>T	ENSP00000328062:p.Thr842Ser					KIAA1033_uc010swr.1_Missense_Mutation_p.T843S|KIAA1033_uc010sws.1_Missense_Mutation_p.T654S	p.T842S	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			25	2611	+			842						Missense_Mutation	SNP	ENST00000332180.5	37	c.2524A>T	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.707684	0.89018	.	.	ENSG00000136051	ENST00000332180	T	0.47177	0.85	5.67	5.67	0.87782	.	0.046438	0.85682	D	0.000000	T	0.62171	0.2406	M	0.73962	2.25	0.58432	D	0.999998	D;D	0.57899	0.981;0.981	P;P	0.54270	0.747;0.747	T	0.67428	-0.5673	10	0.72032	D	0.01	.	14.4879	0.67629	1.0:0.0:0.0:0.0	.	843;842	B7ZKT9;Q2M389	.;WASH7_HUMAN	S	842	ENSP00000328062:T842S	ENSP00000328062:T842S	T	+	1	0	KIAA1033	104067532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.152000	0.67230	0.455000	0.32223	ACC		PASS	0.224	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		8	84	8	84	---	---	---	---
ALDH2	217	broad.mit.edu	37	12	112229892	112229892	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:112229892G>A	ENST00000261733.2	+	8	884	c.823G>A	c.(823-825)Ggg>Agg	p.G275R	ALDH2_ENST00000416293.3_Missense_Mutation_p.G228R	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	275					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.G275R(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	GGTTGCTGCTGGGAGCAGCAA	0.542			T	HMGA2	leiomyoma																																	uc001tst.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(823-825)GGG>AGG		mitochondrial aldehyde dehydrogenase 2	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						42.0	48.0	46.0					12																	112229892		2203	4300	6503	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity	g.chr12:112229892G>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.823G>A	12.37:g.112229892G>A	ENSP00000261733:p.Gly275Arg					ALDH2_uc010syi.1_Missense_Mutation_p.G228R|ALDH2_uc009zvy.2_Missense_Mutation_p.G199R	p.G275R	NM_000690	NP_000681	P05091	ALDH2_HUMAN			8	1264	+			275					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.823G>A	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447761	0.63178	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.16457	2.34;2.34	5.14	5.14	0.70334	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.091772	0.85682	D	0.000000	T	0.34395	0.0896	L	0.46947	1.48	0.58432	D	0.999996	P;D;P	0.58268	0.766;0.982;0.887	P;P;P	0.60609	0.877;0.716;0.838	T	0.05435	-1.0885	10	0.87932	D	0	.	18.601	0.91247	0.0:0.0:1.0:0.0	.	228;199;275	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	R	228;275;199;135	ENSP00000403349:G228R;ENSP00000261733:G275R	ENSP00000261733:G275R	G	+	1	0	ALDH2	110714275	1.000000	0.71417	0.928000	0.36995	0.183000	0.23260	7.473000	0.81007	2.393000	0.81446	0.462000	0.41574	GGG		PASS	0.542	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		12	77	12	77	---	---	---	---
TMEM120B	144404	broad.mit.edu	37	12	122181597	122181597	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:122181597C>T	ENST00000449592.2	+	2	233	c.132C>T	c.(130-132)agC>agT	p.S44S		NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	44						integral component of membrane (GO:0016021)		p.S44S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CGCTGTGTAGCAGTTCCATCA	0.592																																						uc001ubc.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(130-132)AGC>AGT		transmembrane protein 120B							65.0	69.0	68.0					12																	122181597		1984	4178	6162	SO:0001819	synonymous_variant	144404					integral to membrane		g.chr12:122181597C>T	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.132C>T	12.37:g.122181597C>T						TMEM120B_uc009zxh.2_Silent_p.S44S	p.S44S	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	2	276	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		44			Potential.		A0PK01|B3KX33	Silent	SNP	ENST00000449592.2	37	c.132C>T	CCDS41852.1																																																																																				PASS	0.592	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		14	103	14	103	---	---	---	---
HCAR3	8843	broad.mit.edu	37	12	123200969	123200969	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:123200969T>A	ENST00000528880.2	-	1	470	c.316A>T	c.(316-318)Atg>Ttg	p.M106L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	106					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.M106L(3)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	ATGGCAAACATGAAGAGCACC	0.552																																						uc001ucy.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(316-318)ATG>TTG		G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)						57.0	60.0	59.0					12																	123200969		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200969T>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.316A>T	12.37:g.123200969T>A	ENSP00000436714:p.Met106Leu					GPR81_uc001ucw.1_Intron	p.M106L	NM_006018	NP_006009	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	471	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		106			Helical; Name=3; (Potential).		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.316A>T	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	T	7.086	0.571267	0.13623	.	.	ENSG00000255398	ENST00000528880	T	0.29655	1.56	3.27	3.27	0.37495	.	.	.	.	.	T	0.23572	0.0570	N	0.25060	0.705	0.27506	N	0.951848	B	0.31125	0.309	B	0.42882	0.401	T	0.27434	-1.0074	9	0.02654	T	1	.	9.8809	0.41233	0.0:0.0:0.0:1.0	.	106	E9PI97	.	L	106	ENSP00000436714:M106L	ENSP00000436714:M106L	M	-	1	0	HCAR3	121766922	0.835000	0.29415	0.998000	0.56505	0.064000	0.16182	-0.084000	0.11268	1.246000	0.43901	0.155000	0.16302	ATG		PASS	0.552	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		5	41	5	41	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130840128	130840128	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:130840128C>A	ENST00000245255.3	+	12	1592	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	440					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.D440E(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)		AGCTTCGAGACTGGGGTTTGA	0.388																																						uc001uik.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1318-1320)GAC>GAA		piwi-like 1							207.0	216.0	213.0					12																	130840128		2203	4300	6503	SO:0001583	missense	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.chr12:130840128C>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.1320C>A	12.37:g.130840128C>A	ENSP00000245255:p.Asp440Glu					PIWIL1_uc001uij.1_Missense_Mutation_p.D440E	p.D440E	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)	12	1410	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		440					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1320C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	4.596	0.110704	0.08780	.	.	ENSG00000125207	ENST00000245255	T	0.05199	3.48	5.48	5.48	0.80851	Ribonuclease H-like (1);	0.235562	0.50627	D	0.000119	T	0.05640	0.0148	L	0.40543	1.245	0.36904	D	0.890565	B;B	0.17465	0.009;0.022	B;B	0.19666	0.004;0.026	T	0.12372	-1.0550	10	0.02654	T	1	-7.321	11.8155	0.52207	0.0:0.9202:0.0:0.0797	.	440;440	Q96J94;Q96J94-2	PIWL1_HUMAN;.	E	440	ENSP00000245255:D440E	ENSP00000245255:D440E	D	+	3	2	PIWIL1	129406081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.379000	0.34340	2.577000	0.86979	0.650000	0.86243	GAC		PASS	0.388	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			35	287	35	287	---	---	---	---
STX2	2054	broad.mit.edu	37	12	131311740	131311740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr12:131311740G>A	ENST00000392373.2	-	2	197	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	STX2_ENST00000261653.6_Nonsense_Mutation_p.Q35*	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	35					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)	p.Q35*(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GCTCTTACCTGATGGAAGAAA	0.458																																						uc001uio.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(103-105)CAG>TAG		syntaxin 2 isoform 2							136.0	126.0	129.0					12																	131311740		2203	4300	6503	SO:0001587	stop_gained	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131311740G>A	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.103C>T	12.37:g.131311740G>A	ENSP00000376178:p.Gln35*					STX2_uc001uip.2_Nonsense_Mutation_p.Q35*|STX2_uc010tbj.1_Nonsense_Mutation_p.Q35*	p.Q35*	NM_194356	NP_919337	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	2	270	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		35			Potential.|Cytoplasmic (Potential).		Q86VW8	Nonsense_Mutation	SNP	ENST00000392373.2	37	c.103C>T	CCDS9270.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488978	0.84962	.	.	ENSG00000111450	ENST00000261653;ENST00000392373	.	.	.	4.52	4.52	0.55395	.	0.118551	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-21.2707	14.7675	0.69651	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000261653:Q35X	Q	-	1	0	STX2	129877693	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	5.943000	0.70211	2.073000	0.62155	0.492000	0.49549	CAG		PASS	0.458	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356		10	124	10	124	---	---	---	---
ELF1	1997	broad.mit.edu	37	13	41524010	41524010	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr13:41524010T>A	ENST00000239882.3	-	5	775	c.461A>T	c.(460-462)cAg>cTg	p.Q154L	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q130L	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	154					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q154L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTGCACCTGCTGTGTTTCCAT	0.448																																						uc001uxs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(460-462)CAG>CTG		E74-like factor 1 (ets domain transcription							179.0	162.0	168.0					13																	41524010		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41524010T>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.461A>T	13.37:g.41524010T>A	ENSP00000239882:p.Gln154Leu					ELF1_uc010tfc.1_Missense_Mutation_p.Q130L|ELF1_uc010acd.2_Missense_Mutation_p.Q47L	p.Q154L	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	5	834	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	154					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.461A>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.011833	0.54468	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.20463	2.07;2.08	5.84	5.84	0.93424	.	0.215506	0.39407	N	0.001362	T	0.16938	0.0407	N	0.22421	0.69	0.39005	D	0.959439	B;B	0.26258	0.072;0.145	B;B	0.25884	0.042;0.064	T	0.06881	-1.0802	10	0.33940	T	0.23	.	16.2233	0.82274	0.0:0.0:0.0:1.0	.	130;154	E9PDQ9;P32519	.;ELF1_HUMAN	L	130;154	ENSP00000405580:Q130L;ENSP00000239882:Q154L	ENSP00000239882:Q154L	Q	-	2	0	ELF1	40422010	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.958000	0.49145	2.243000	0.73865	0.482000	0.46254	CAG		PASS	0.448	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		38	212	38	212	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454819	84454819	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr13:84454819G>C	ENST00000377084.2	-	1	1709	c.824C>G	c.(823-825)cCt>cGt	p.P275R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	275					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.P275R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTCTTGGGCAGGGGGCGCCGG	0.552																																						uc001vlk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(823-825)CCT>CGT		slit and trk like 1 protein precursor							61.0	64.0	63.0					13																	84454819		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454819G>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.824C>G	13.37:g.84454819G>C	ENSP00000366288:p.Pro275Arg						p.P275R	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1710	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	275			Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.824C>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992347	0.54041	.	.	ENSG00000178235	ENST00000377084	T	0.50277	0.75	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.34521	1.04	0.80722	D	1	D	0.61080	0.989	P	0.57152	0.814	T	0.41466	-0.9507	10	0.27785	T	0.31	-6.2047	16.915	0.86149	0.0:0.0:1.0:0.0	.	275	Q96PX8	SLIK1_HUMAN	R	275	ENSP00000366288:P275R	ENSP00000366288:P275R	P	-	2	0	SLITRK1	83352820	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.860000	0.86993	2.572000	0.86782	0.555000	0.69702	CCT		PASS	0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		18	73	18	73	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20482746	20482746	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr14:20482746C>A	ENST00000305045.2	-	1	606	c.607G>T	c.(607-609)Gac>Tac	p.D203Y		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D203Y(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AACCCACTGTCTGAGATCATA	0.512																																						uc010tky.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(607-609)GAC>TAC		olfactory receptor, family 4, subfamily K,							80.0	76.0	77.0					14																	20482746		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482746C>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.607G>T	14.37:g.20482746C>A	ENSP00000305011:p.Asp203Tyr						p.D203Y	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	607	-	all_cancers(95;0.00108)		203			Helical; Name=5; (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.607G>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	10.81	1.454668	0.26161	.	.	ENSG00000169484	ENST00000305045	T	0.00058	8.79	4.04	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.467171	0.17610	N	0.168137	T	0.00210	0.0006	L	0.49640	1.575	0.09310	N	1	P	0.48911	0.917	P	0.55667	0.781	T	0.44817	-0.9303	10	0.87932	D	0	.	3.618	0.08085	0.0:0.5043:0.1935:0.3022	.	203	Q8NGD5	OR4KE_HUMAN	Y	203	ENSP00000305011:D203Y	ENSP00000305011:D203Y	D	-	1	0	OR4K14	19552586	.	.	1.000000	0.80357	0.367000	0.29736	.	.	0.915000	0.36847	0.505000	0.49811	GAC		PASS	0.512	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			9	54	9	54	---	---	---	---
OR10G3	26533	broad.mit.edu	37	14	22038006	22038006	+	Silent	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr14:22038006A>G	ENST00000303532.1	-	1	869	c.870T>C	c.(868-870)acT>acC	p.T290T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T290T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGTTCCGCAGAGTGTAGATAA	0.552																																						uc010tmb.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(868-870)ACT>ACC		olfactory receptor, family 10, subfamily G,							61.0	64.0	63.0					14																	22038006		2203	4300	6503	SO:0001819	synonymous_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038006A>G		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.870T>C	14.37:g.22038006A>G							p.T290T	NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	870	-	all_cancers(95;0.000987)		290			Helical; Name=7; (Potential).		Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	c.870T>C	CCDS32046.1																																																																																				PASS	0.552	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			23	108	23	108	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23562722	23562722	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr14:23562722G>C	ENST00000262710.1	-	2	671	c.344C>G	c.(343-345)tCa>tGa	p.S115*	C14orf119_ENST00000319074.4_5'Flank|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.S57*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.S115*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.S115*|C14orf119_ENST00000554203.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	115					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S115*(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATGGGGTGTTGAGTGTTTCTG	0.438																																						uc001wit.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(343-345)TCA>TGA		apoptotic chromatin condensation inducer 1							155.0	138.0	144.0					14																	23562722		2203	4300	6503	SO:0001587	stop_gained	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23562722G>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.344C>G	14.37:g.23562722G>C	ENSP00000262710:p.Ser115*					ACIN1_uc010akg.2_Nonsense_Mutation_p.S115*|ACIN1_uc010tnj.1_Nonsense_Mutation_p.S115*|C14orf119_uc001wiu.2_5'Flank	p.S115*	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	2	672	-	all_cancers(95;1.36e-05)		115					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Nonsense_Mutation	SNP	ENST00000262710.1	37	c.344C>G	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	40	8.504524	0.98841	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	.	.	.	5.13	5.13	0.70059	.	0.000000	0.30639	N	0.009196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.9195	17.3407	0.87294	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000262710:S115X	S	-	2	0	ACIN1	22632562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.335000	0.90031	2.398000	0.81561	0.555000	0.69702	TCA		PASS	0.438	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		16	125	16	125	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256636	69256636	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr14:69256636C>A	ENST00000439696.2	-	2	932	c.631G>T	c.(631-633)Gct>Tct	p.A211S	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.A211S|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	211					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A211S(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		gcggtggcagcggcACTGGGA	0.692											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(631-633)GCT>TCT		butyrate response factor 1							34.0	42.0	39.0					14																	69256636		2193	4279	6472	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256636C>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.631G>T	14.37:g.69256636C>A	ENSP00000388402:p.Ala211Ser		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Missense_Mutation_p.A211S	p.A211S	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	761	-			211					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.631G>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	C	7.361	0.624845	0.14193	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.29917	1.55;1.55	3.55	1.68	0.24146	.	0.000000	0.36066	U	0.002809	T	0.10380	0.0254	N	0.03608	-0.345	0.80722	D	1	B	0.16396	0.017	B	0.08055	0.003	T	0.16188	-1.0411	10	0.09084	T	0.74	5.318	7.514	0.27590	0.0:0.7387:0.1675:0.0938	.	211	Q07352	TISB_HUMAN	S	211;211;194	ENSP00000388402:A211S;ENSP00000337386:A211S	ENSP00000337386:A211S	A	-	1	0	ZFP36L1	68326389	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.548000	0.53670	0.469000	0.27268	0.585000	0.79938	GCT		PASS	0.692	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			14	102	14	102	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088661	86088661	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr14:86088661C>T	ENST00000330753.4	+	2	1570	c.803C>T	c.(802-804)cCt>cTt	p.P268L	FLRT2_ENST00000554746.1_Missense_Mutation_p.P268L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	268					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.P268L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AACCACATTCCTTTGACAGCC	0.473																																						uc001xvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(802-804)CCT>CTT		fibronectin leucine rich transmembrane protein 2							135.0	133.0	134.0					14																	86088661		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088661C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.803C>T	14.37:g.86088661C>T	ENSP00000332879:p.Pro268Leu					FLRT2_uc010atd.2_Missense_Mutation_p.P268L	p.P268L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1570	+			268			Extracellular (Potential).|LRR 9.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.803C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663771	0.67700	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.59906	0.23;0.23	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	M	0.66506	2.035	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.74494	-0.3647	10	0.56958	D	0.05	-14.8659	20.4043	0.99006	0.0:1.0:0.0:0.0	.	268	O43155	FLRT2_HUMAN	L	268	ENSP00000332879:P268L;ENSP00000451050:P268L	ENSP00000332879:P268L	P	+	2	0	FLRT2	85158414	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	7.817000	0.86213	2.823000	0.97156	0.650000	0.86243	CCT		PASS	0.473	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			68	256	68	256	---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91792395	91792395	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr14:91792395C>T	ENST00000389857.6	-	11	1142	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	352					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.L352L(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TATCTTCTCTCAGCTCCTGGT	0.458																																						uc010aty.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1054-1056)CTG>CTA		DVL-binding protein DAPLE							37.0	36.0	36.0					14																	91792395		1929	4136	6065	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91792395C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1056G>A	14.37:g.91792395C>T							p.L352L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			11	1155	-		all_cancers(154;0.0468)	352			Potential.		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.1056G>A	CCDS45151.1																																																																																				PASS	0.458	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		6	20	6	20	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94088420	94088420	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr14:94088420C>T	ENST00000393151.2	+	30	4841	c.4841C>T	c.(4840-4842)tCa>tTa	p.S1614L	UNC79_ENST00000256339.4_Missense_Mutation_p.S1437L|UNC79_ENST00000553484.1_Missense_Mutation_p.S1636L|UNC79_ENST00000555664.1_Missense_Mutation_p.S1614L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1614					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1636L(1)|p.S1437L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCTCAGATTCAACCTCGGGG	0.463																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(4375-4377)TCA>TTA		hypothetical protein LOC57578							74.0	77.0	76.0					14																	94088420		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088420C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4841C>T	14.37:g.94088420C>T	ENSP00000376858:p.Ser1614Leu					KIAA1409_uc001ybs.1_Missense_Mutation_p.S1437L	p.S1459L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4459	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1614					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4376C>T		.	.	.	.	.	.	.	.	.	.	C	14.95	2.687541	0.48097	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.21543	2.03;2.0;2.04;2.03	5.55	5.55	0.83447	.	0.060844	0.64402	D	0.000002	T	0.18299	0.0439	L	0.27053	0.805	0.46336	D	0.998995	P	0.38078	0.617	B	0.33960	0.173	T	0.02646	-1.1129	10	0.66056	D	0.02	-14.2934	19.8592	0.96777	0.0:1.0:0.0:0.0	.	1636	C9JQL1	.	L	1437;1614;1636;1614;1636	ENSP00000256339:S1437L;ENSP00000450868:S1614L;ENSP00000451360:S1636L;ENSP00000376858:S1614L	ENSP00000256339:S1437L	S	+	2	0	KIAA1409	93158173	1.000000	0.71417	0.978000	0.43139	0.947000	0.59692	5.960000	0.70348	2.779000	0.95612	0.491000	0.48974	TCA		PASS	0.463	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		27	120	27	120	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28419668	28419668	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:28419668C>G	ENST00000261609.7	-	65	10038	c.9930G>C	c.(9928-9930)aaG>aaC	p.K3310N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.K3310N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCGTGTGATCTTCTGGCCTT	0.602																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(9928-9930)AAG>AAC		hect domain and RLD 2							109.0	73.0	85.0					15																	28419668		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28419668C>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9930G>C	15.37:g.28419668C>G	ENSP00000261609:p.Lys3310Asn						p.K3310N	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	65	10036	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3310			RCC1 12.			Missense_Mutation	SNP	ENST00000261609.7	37	c.9930G>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879442	0.51801	.	.	ENSG00000128731	ENST00000261609	D	0.85411	-1.98	5.72	2.07	0.26955	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.101675	0.64402	N	0.000004	T	0.77711	0.4171	N	0.11106	0.095	0.50632	D	0.99988	D	0.57899	0.981	P	0.56163	0.793	T	0.71978	-0.4429	10	0.23302	T	0.38	.	9.5076	0.39056	0.0:0.6297:0.0:0.3703	.	3310	O95714	HERC2_HUMAN	N	3310	ENSP00000261609:K3310N	ENSP00000261609:K3310N	K	-	3	2	HERC2	26093263	0.997000	0.39634	1.000000	0.80357	0.483000	0.33249	0.475000	0.22164	0.653000	0.30826	0.591000	0.81541	AAG		PASS	0.602	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		12	68	12	68	---	---	---	---
DLL4	54567	broad.mit.edu	37	15	41228522	41228522	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:41228522G>T	ENST00000249749.5	+	9	1613	c.1337G>T	c.(1336-1338)cGt>cTt	p.R446L		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	446	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.R446L(1)		breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GACTGTGCCCGTAACCCTTGC	0.642																																						uc001zng.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1336-1338)CGT>CTT		delta-like 4 protein precursor							32.0	36.0	35.0					15																	41228522		2170	4256	6426	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41228522G>T	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1337G>T	15.37:g.41228522G>T	ENSP00000249749:p.Arg446Leu						p.R446L	NM_019074	NP_061947	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	1657	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	446			EGF-like 7.|Extracellular (Potential).		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1337G>T	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611522	0.46631	.	.	ENSG00000128917	ENST00000249749	D	0.87491	-2.26	5.95	5.04	0.67666	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.256266	0.45867	D	0.000325	T	0.76870	0.4048	N	0.03268	-0.37	0.42518	D	0.992992	P	0.48503	0.911	P	0.48063	0.565	T	0.79999	-0.1566	10	0.45353	T	0.12	.	11.0824	0.48068	0.1403:0.0:0.8597:0.0	.	446	Q9NR61	DLL4_HUMAN	L	446	ENSP00000249749:R446L	ENSP00000249749:R446L	R	+	2	0	DLL4	39015814	1.000000	0.71417	0.998000	0.56505	0.078000	0.17371	2.903000	0.48711	1.527000	0.49086	0.655000	0.94253	CGT		PASS	0.642	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			5	17	5	17	---	---	---	---
CATSPER2	117155	broad.mit.edu	37	15	43922915	43922915	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:43922915T>G	ENST00000321596.5	-	13	1776	c.1577A>C	c.(1576-1578)aAc>aCc	p.N526T	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000381761.1_Missense_Mutation_p.N530T|CATSPER2_ENST00000396879.1_Missense_Mutation_p.N524T|CATSPER2_ENST00000354127.4_Missense_Mutation_p.N524T			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	526					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.N524T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTCTTCCAAGTTCATCAGTGC	0.383																																						uc001zsh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1576-1578)AAC>ACC		sperm-associated cation channel 2 isoform 2							27.0	28.0	27.0					15																	43922915		2185	4272	6457	SO:0001583	missense	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43922915T>G	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1577A>C	15.37:g.43922915T>G	ENSP00000321463:p.Asn526Thr					STRC_uc010udz.1_Intron|CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.N524T|CATSPER2_uc001zsj.2_Missense_Mutation_p.N524T	p.N526T	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	13	1792	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	526			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	c.1577A>C	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.944030	0.34283	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	3.64	-0.504	0.11997	.	0.947991	0.08674	N	0.910507	D	0.93226	0.7842	L	0.51422	1.61	0.80722	D	1	P;P	0.42296	0.775;0.666	B;B	0.39660	0.306;0.162	D	0.86947	0.2083	10	0.72032	D	0.01	.	6.3116	0.21169	0.0:0.3847:0.0:0.6153	.	530;526	F8W9H2;Q96P56	.;CTSR2_HUMAN	T	524;526;530;526;524	ENSP00000380088:N524T;ENSP00000371180:N530T;ENSP00000321463:N526T;ENSP00000339137:N524T	ENSP00000299989:N526T	N	-	2	0	CATSPER2	41710207	0.998000	0.40836	0.997000	0.53966	0.907000	0.53573	0.146000	0.16180	-0.080000	0.12685	0.524000	0.50904	AAC		PASS	0.383	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		13	64	13	64	---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52356574	52356574	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:52356574G>A	ENST00000261845.5	+	6	2350	c.1543G>A	c.(1543-1545)Gct>Act	p.A515T	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	515					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.A515T(1)		breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ACAGCAACTGGCTGGAAAAGA	0.393																																						uc002abp.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(1543-1545)GCT>ACT		mitogen-activated protein kinase 6							36.0	39.0	38.0					15																	52356574		2193	4288	6481	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52356574G>A	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1543G>A	15.37:g.52356574G>A	ENSP00000261845:p.Ala515Thr						p.A515T	NM_002748	NP_002739	Q16659	MK06_HUMAN		all cancers(107;0.0028)	6	2337	+			515					B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.1543G>A	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	G	8.038	0.763292	0.15914	.	.	ENSG00000069956	ENST00000261845	T	0.43688	0.94	5.27	4.36	0.52297	.	0.344198	0.33895	N	0.004457	T	0.18257	0.0438	N	0.02011	-0.69	0.30127	N	0.805144	B	0.15141	0.012	B	0.14023	0.01	T	0.09487	-1.0672	10	0.20046	T	0.44	-9.8096	13.1764	0.59629	0.077:0.0:0.923:0.0	.	515	Q16659	MK06_HUMAN	T	515	ENSP00000261845:A515T	ENSP00000261845:A515T	A	+	1	0	MAPK6	50143866	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.563000	0.60823	1.291000	0.44653	0.543000	0.68304	GCT		PASS	0.393	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		3	39	3	39	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54305124	54305124	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:54305124C>A	ENST00000260323.11	+	1	24	c.24C>A	c.(22-24)agC>agA	p.S8R	UNC13C_ENST00000545554.1_Missense_Mutation_p.S8R|UNC13C_ENST00000537900.1_Missense_Mutation_p.S8R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	8					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.S8R(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTCAAGAGCTTGATTTTAC	0.358																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(22-24)AGC>AGA		unc-13 homolog C							64.0	63.0	64.0					15																	54305124		1822	4085	5907	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305124C>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.24C>A	15.37:g.54305124C>A	ENSP00000260323:p.Ser8Arg						p.S8R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	24	+			8					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.24C>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777586	0.49786	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80123	-1.34;-1.34;-1.34	4.97	4.06	0.47325	.	.	.	.	.	T	0.70245	0.3202	L	0.27053	0.805	0.30721	N	0.748191	B	0.30068	0.267	B	0.27380	0.079	T	0.70432	-0.4873	9	0.72032	D	0.01	.	12.1901	0.54266	0.0:0.9176:0.0:0.0824	.	8	Q8NB66	UN13C_HUMAN	R	8	ENSP00000260323:S8R;ENSP00000438156:S8R;ENSP00000442569:S8R	ENSP00000260323:S8R	S	+	3	2	UNC13C	52092416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.457000	0.35212	1.083000	0.41159	0.655000	0.94253	AGC		PASS	0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		10	56	10	56	---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58302913	58302913	+	Missense_Mutation	SNP	C	C	T	rs572439325		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:58302913C>T	ENST00000249750.4	-	4	1194	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.V122I|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.V143I|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.V114I|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.V47I	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	143					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.V143I(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GTTTTGATGACGCCCTGCAAA	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18764	0.0		0.0	False		,,,				2504	0.0					uc002aex.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(1)	1						c.(427-429)GTC>ATC		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						105.0	96.0	99.0					15																	58302913		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58302913C>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.427G>A	15.37:g.58302913C>T	ENSP00000249750:p.Val143Ile					ALDH1A2_uc002aey.2_Missense_Mutation_p.V143I|ALDH1A2_uc010ugv.1_Missense_Mutation_p.V122I|ALDH1A2_uc010ugw.1_Missense_Mutation_p.V114I|ALDH1A2_uc002aew.2_Missense_Mutation_p.V47I	p.V143I	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	4	485	-			143					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.427G>A	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882508	0.51908	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.76709	-1.04;2.36;-1.04	5.0	5.0	0.66597	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.173986	0.51477	D	0.000089	T	0.71937	0.3399	L	0.37697	1.125	0.39933	D	0.974315	B;B;B;B	0.12630	0.006;0.005;0.0;0.001	B;B;B;B	0.10450	0.005;0.003;0.001;0.002	T	0.68618	-0.5361	10	0.51188	T	0.08	.	18.851	0.92230	0.0:1.0:0.0:0.0	.	114;122;143;143	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	I	143;47;114;143;122	ENSP00000249750:V143I;ENSP00000309623:V143I;ENSP00000438296:V122I	ENSP00000249750:V143I	V	-	1	0	ALDH1A2	56090205	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	4.362000	0.59467	2.756000	0.94617	0.655000	0.94253	GTC		PASS	0.433	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			23	88	23	88	---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59516905	59516905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:59516905C>A	ENST00000288235.4	-	8	1159	c.760G>T	c.(760-762)Gag>Tag	p.E254*	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	254	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.E254*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TCCTGAAACTCCCGCCTGTCG	0.522																																						uc002aga.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(3)	3						c.(760-762)GAG>TAG		myosin IE							89.0	75.0	80.0					15																	59516905		2190	4290	6480	SO:0001587	stop_gained	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59516905C>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.760G>T	15.37:g.59516905C>A	ENSP00000288235:p.Glu254*						p.E254*	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	8	1132	-			254			Myosin head-like.		Q14778	Nonsense_Mutation	SNP	ENST00000288235.4	37	c.760G>T	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	36	5.783014	0.96937	.	.	ENSG00000157483	ENST00000288235	.	.	.	5.22	5.22	0.72569	.	0.141962	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1402	0.93444	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000288235:E254X	E	-	1	0	MYO1E	57304197	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.818000	0.86416	2.599000	0.87857	0.655000	0.94253	GAG		PASS	0.522	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		13	48	13	48	---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238497	69238497	+	Silent	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:69238497A>T	ENST00000310673.3	+	2	778	c.624A>T	c.(622-624)atA>atT	p.I208I	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	208					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.I208I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AAACTGCGATAGAAAAACCCG	0.403																																						uc002arn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(622-624)ATA>ATT		sperm equatorial segment protein 1 precursor							77.0	79.0	79.0					15																	69238497		2200	4298	6498	SO:0001819	synonymous_variant	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238497A>T	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.624A>T	15.37:g.69238497A>T						NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.I208I	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	752	+			208					Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	c.624A>T	CCDS10230.1																																																																																				PASS	0.403	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		44	167	44	167	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73616009	73616009	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:73616009G>C	ENST00000261917.3	-	8	3418	c.2425C>G	c.(2425-2427)Ccc>Gcc	p.P809A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	809					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P809A(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GATCCTGGGGGAGGGCGGAAG	0.692																																						uc002avp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)	6						c.(2425-2427)CCC>GCC		hyperpolarization activated cyclic							22.0	27.0	25.0					15																	73616009		2195	4296	6491	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616009G>C	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2425C>G	15.37:g.73616009G>C	ENSP00000261917:p.Pro809Ala						p.P809A	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3419	-			809			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2425C>G	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290169	0.40494	.	.	ENSG00000138622	ENST00000261917	T	0.78595	-1.19	3.46	3.46	0.39613	.	.	.	.	.	D	0.82318	0.5011	M	0.62723	1.935	0.54753	D	0.999988	D	0.61080	0.989	P	0.54856	0.762	D	0.85256	0.1047	9	0.66056	D	0.02	.	15.125	0.72475	0.0:0.0:1.0:0.0	.	809	Q9Y3Q4	HCN4_HUMAN	A	809	ENSP00000261917:P809A	ENSP00000261917:P809A	P	-	1	0	HCN4	71403062	1.000000	0.71417	0.778000	0.31720	0.856000	0.48823	3.037000	0.49775	1.761000	0.52028	0.313000	0.20887	CCC		PASS	0.692	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		10	24	10	24	---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75982045	75982045	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:75982045G>C	ENST00000308508.5	-	3	1453	c.1361C>G	c.(1360-1362)cCc>cGc	p.P454R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	454	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.P454R(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTCCAGCGTGGGCTGCACATG	0.642																																						uc002baw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1360-1362)CCC>CGC		chondroitin sulfate proteoglycan 4 precursor							55.0	54.0	55.0					15																	75982045		2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982045G>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1361C>G	15.37:g.75982045G>C	ENSP00000312506:p.Pro454Arg						p.P454R	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	1454	-			454			Extracellular (Potential).|CSPG 1.|Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1361C>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	18.12	3.551968	0.65311	.	.	ENSG00000173546	ENST00000308508	T	0.19532	2.14	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000004	T	0.45418	0.1341	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.32693	-0.9897	10	0.52906	T	0.07	.	17.856	0.88762	0.0:0.0:1.0:0.0	.	454	Q6UVK1	CSPG4_HUMAN	R	454	ENSP00000312506:P454R	ENSP00000312506:P454R	P	-	2	0	CSPG4	73769100	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.685000	0.84117	2.463000	0.83235	0.555000	0.69702	CCC		PASS	0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		12	95	12	95	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91027569	91027569	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr15:91027569C>T	ENST00000268182.5	+	30	4030	c.3906C>T	c.(3904-3906)atC>atT	p.I1302I	IQGAP1_ENST00000560738.1_Silent_p.I730I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1302	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.I1302I(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGGTGAAATCATCAACACCC	0.373																																						uc002bpl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(3904-3906)ATC>ATT		IQ motif containing GTPase activating protein 1							104.0	98.0	100.0					15																	91027569		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91027569C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3906C>T	15.37:g.91027569C>T							p.I1302I	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		30	4007	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1302			C2.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.3906C>T	CCDS10362.1																																																																																				PASS	0.373	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		22	143	22	143	---	---	---	---
CLUAP1	23059	broad.mit.edu	37	16	3576429	3576429	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:3576429C>T	ENST00000576634.1	+	9	1017	c.873C>T	c.(871-873)ctC>ctT	p.L291L	CLUAP1_ENST00000572600.1_Silent_p.L125L|CLUAP1_ENST00000445795.2_Silent_p.L50L|CLUAP1_ENST00000571025.1_Silent_p.L291L|CLUAP1_ENST00000417763.2_Silent_p.L125L|CLUAP1_ENST00000341633.5_Silent_p.L291L	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	291					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.L291L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AAAACACTCTCTGCCTGATAC	0.478																																						uc002cvk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(871-873)CTC>CTT		clusterin associated protein 1 isoform 1							57.0	56.0	56.0					16																	3576429		2197	4300	6497	SO:0001819	synonymous_variant	23059					nucleus	protein binding	g.chr16:3576429C>T	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.873C>T	16.37:g.3576429C>T						CLUAP1_uc002cvj.1_Silent_p.L291L|CLUAP1_uc002cvl.1_Silent_p.L291L|CLUAP1_uc002cvm.1_Silent_p.L125L	p.L291L	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN			9	978	+			291			Potential.		O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	c.873C>T	CCDS32381.1																																																																																				PASS	0.478	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		4	29	4	29	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11272305	11272305	+	Missense_Mutation	SNP	G	G	T	rs74163628		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:11272305G>T	ENST00000409790.1	+	24	3150	c.2920G>T	c.(2920-2922)Gtg>Ttg	p.V974L	CLEC16A_ENST00000381822.2_Missense_Mutation_p.V61L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)|p.V974L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGCGCAGCCGTGGAGACAGC	0.617																																						uc002dao.2																			2	Substitution - Missense(1)|Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2920-2922)GTG>TTG		C-type lectin domain family 16, member A							69.0	86.0	80.0					16																	11272305		2170	4253	6423	SO:0001583	missense	23274							g.chr16:11272305G>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2920G>T	16.37:g.11272305G>T	ENSP00000387122:p.Val974Leu					CLEC16A_uc002dap.2_Missense_Mutation_p.V61L	p.V974L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			24	3150	+			974						Missense_Mutation	SNP	ENST00000409790.1	37	c.2920G>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	0.472	-0.883820	0.02530	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.42131	0.98	4.49	1.32	0.21799	.	0.896444	0.09590	N	0.781681	T	0.27524	0.0676	N	0.19112	0.55	0.09310	N	1	P;B	0.48230	0.907;0.001	B;B	0.43728	0.429;0.002	T	0.10405	-1.0631	10	0.35671	T	0.21	-0.8256	5.2004	0.15260	0.1972:0.3583:0.4445:0.0	.	61;974	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	L	974;974;61	ENSP00000387122:V974L	ENSP00000371244:V61L	V	+	1	0	CLEC16A	11179806	0.000000	0.05858	0.025000	0.17156	0.375000	0.29983	-0.156000	0.10100	0.091000	0.17302	-0.910000	0.02820	GTG		PASS	0.617	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		9	39	9	39	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15797886	15797886	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:15797886G>C	ENST00000300036.5	-	41	5990	c.5881C>G	c.(5881-5883)Cga>Gga	p.R1961G	MYH11_ENST00000452625.2_3'UTR|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000573908.1_5'UTR|MYH11_ENST00000396324.3_Missense_Mutation_p.R1968G|MYH11_ENST00000576790.2_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1961	C-terminal.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.R1968G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTGCGTCTCGAGTGTCCGTT	0.448			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(5881-5883)CGA>GGA		smooth muscle myosin heavy chain 11 isoform							227.0	220.0	222.0					16																	15797886		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15797886G>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5881C>G	16.37:g.15797886G>C	ENSP00000300036:p.Arg1961Gly					MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Missense_Mutation_p.R1968G|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	p.R1961G	NM_002474	NP_002465	P35749	MYH11_HUMAN			41	5988	-			1961			Carboxyl-terminal.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5881C>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779252	0.31502	.	.	ENSG00000133392	ENST00000300036;ENST00000396324	D;D	0.85861	-2.04;-2.04	5.43	3.28	0.37604	.	0.073991	0.56097	D	0.000033	T	0.72350	0.3449	N	0.14661	0.345	0.23838	N	0.996702	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.66180	-0.5988	10	0.87932	D	0	.	10.275	0.43504	0.0:0.0:0.5046:0.4954	.	1961;1968	P35749;Q3MNF1	MYH11_HUMAN;.	G	1961;1968	ENSP00000300036:R1961G;ENSP00000379616:R1968G	ENSP00000300036:R1961G	R	-	1	2	MYH11	15705387	0.825000	0.29262	0.035000	0.18076	0.636000	0.38137	2.535000	0.45685	1.241000	0.43820	0.561000	0.74099	CGA		PASS	0.448	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		51	177	51	177	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30736362	30736362	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:30736362C>G	ENST00000262518.4	+	25	6002	c.5617C>G	c.(5617-5619)Cga>Gga	p.R1873G	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1811G|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1715G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1873	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R1873G(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCCCGGCCTCGACGCCAGCC	0.582																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5617-5619)CGA>GGA		Snf2-related CBP activator protein							65.0	77.0	73.0					16																	30736362		2197	4299	6496	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736362C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5617C>G	16.37:g.30736362C>G	ENSP00000262518:p.Arg1873Gly					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R1668G|SRCAP_uc010bzz.1_Missense_Mutation_p.R1443G	p.R1873G	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	6002	+			1873			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.5617C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868329	0.32977	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92299	-2.98;-2.99;-3.01	5.91	4.95	0.65309	.	0.000000	0.42821	D	0.000649	D	0.92315	0.7562	N	0.19112	0.55	0.33390	D	0.575972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	D	0.94630	0.7821	10	0.52906	T	0.07	-6.8586	14.4349	0.67274	0.148:0.852:0.0:0.0	.	1715;1811;1873	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	G	1873;1811;1715	ENSP00000262518:R1873G;ENSP00000378499:R1811G;ENSP00000343042:R1715G	ENSP00000262518:R1873G	R	+	1	2	SRCAP	30643863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.393000	0.34497	1.481000	0.48307	0.655000	0.94253	CGA		PASS	0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		20	118	20	118	---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31485212	31485212	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:31485212C>T	ENST00000394863.3	+	4	369	c.239C>T	c.(238-240)tCc>tTc	p.S80F	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.S63F|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.S63F|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.S63F	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	80	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S80F(1)|p.S63F(1)		lung(8)|upper_aerodigestive_tract(1)	9						CCTCCATTCTCCTCTTCCAGC	0.597																																						uc002ecd.1																			2	Substitution - Missense(2)		lung(2)		0						c.(238-240)TCC>TTC		transforming growth factor beta 1 induced							55.0	63.0	60.0					16																	31485212		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485212C>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.239C>T	16.37:g.31485212C>T	ENSP00000378332:p.Ser80Phe					TGFB1I1_uc002ece.1_Missense_Mutation_p.S63F|TGFB1I1_uc010caq.1_5'UTR	p.S80F	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN			4	265	+			80			Transcription activation (By similarity).|Interaction with PTK2B.		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.239C>T	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009637	0.54361	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.09723	2.95;2.95;2.95	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	L	0.50333	1.59	0.45477	D	0.998444	D	0.71674	0.998	D	0.71184	0.972	T	0.00460	-1.1726	10	0.28530	T	0.3	.	15.8333	0.78778	0.0:1.0:0.0:0.0	.	80	O43294	TGFI1_HUMAN	F	80;63;63	ENSP00000378332:S80F;ENSP00000355117:S63F;ENSP00000378327:S63F	ENSP00000355117:S63F	S	+	2	0	TGFB1I1	31392713	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.887000	0.56197	2.579000	0.87056	0.561000	0.74099	TCC		PASS	0.597	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			9	144	9	144	---	---	---	---
C16orf78	123970	broad.mit.edu	37	16	49433113	49433113	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:49433113A>T	ENST00000299191.3	+	5	839	c.722A>T	c.(721-723)gAt>gTt	p.D241V		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	241						nucleus (GO:0005634)		p.D241V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						ATGAATGTGGATATCCACCCC	0.488																																						uc002efr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(721-723)GAT>GTT		hypothetical protein LOC123970							147.0	119.0	129.0					16																	49433113		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49433113A>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.722A>T	16.37:g.49433113A>T	ENSP00000299191:p.Asp241Val						p.D241V	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			5	765	+			241						Missense_Mutation	SNP	ENST00000299191.3	37	c.722A>T	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763788	0.69878	.	.	ENSG00000166152	ENST00000299191	T	0.61392	0.11	5.26	5.26	0.73747	.	0.000000	0.47852	D	0.000216	T	0.70876	0.3274	M	0.63428	1.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.71283	-0.4639	9	.	.	.	-47.9648	11.5652	0.50800	1.0:0.0:0.0:0.0	.	241	Q8WTQ4	CP078_HUMAN	V	241	ENSP00000299191:D241V	.	D	+	2	0	C16orf78	47990614	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.564000	0.60830	1.979000	0.57680	0.459000	0.35465	GAT		PASS	0.488	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		23	105	23	105	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745449	50745449	+	Missense_Mutation	SNP	C	C	T	rs545580252		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:50745449C>T	ENST00000300589.2	+	4	1732	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	543	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.R543C(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTTCGGGGCCGCCTCCCCAC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18223	0.0		0.0	False		,,,				2504	0.0					uc002egm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1627-1629)CGC>TGC		nucleotide-binding oligomerization domain							34.0	38.0	37.0					16																	50745449		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745449C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1627C>T	16.37:g.50745449C>T	ENSP00000300589:p.Arg543Cys					NOD2_uc010cbk.1_Missense_Mutation_p.R516C|NOD2_uc002egl.1_Missense_Mutation_p.R321C|NOD2_uc010cbl.1_Missense_Mutation_p.R321C|NOD2_uc010cbm.1_Missense_Mutation_p.R321C|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.R543C	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1732	+		all_cancers(37;0.0156)	543			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1627C>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	3.011	-0.203994	0.06180	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70164	-0.46	5.12	-2.2	0.06994	.	0.186973	0.33144	N	0.005229	T	0.49423	0.1556	L	0.46885	1.475	0.09310	N	1	B;B;B	0.23128	0.011;0.08;0.05	B;B;B	0.14578	0.002;0.011;0.005	T	0.33954	-0.9848	10	0.38643	T	0.18	.	6.0091	0.19565	0.3541:0.4079:0.0:0.238	.	327;516;543	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	C	516;543	ENSP00000300589:R543C	ENSP00000300589:R543C	R	+	1	0	NOD2	49302950	0.000000	0.05858	0.141000	0.22245	0.008000	0.06430	0.010000	0.13242	-0.031000	0.13781	-0.410000	0.06199	CGC		PASS	0.617	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		4	85	4	85	---	---	---	---
CMTM3	123920	broad.mit.edu	37	16	66642254	66642254	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:66642254G>A	ENST00000424011.2	+	3	716	c.190G>A	c.(190-192)Gca>Aca	p.A64T	CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000564060.1_Missense_Mutation_p.A64T|CMTM3_ENST00000460097.1_5'UTR|CMTM3_ENST00000565666.1_5'UTR|CMTM3_ENST00000562707.1_Missense_Mutation_p.A64T|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000361909.4_Missense_Mutation_p.A64T|CMTM3_ENST00000567572.1_Missense_Mutation_p.A64T|CMTM3_ENST00000568477.1_5'UTR|CMTM3_ENST00000565003.1_5'UTR|CMTM3_ENST00000566121.1_5'UTR			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	64	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|positive regulation of B cell receptor signaling pathway (GO:0050861)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)		p.A64T(1)		central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		GGCGTCCTCAGCATCTGCCTT	0.527											OREG0023859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002epu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(190-192)GCA>ACA		chemokine-like factor superfamily 3							179.0	158.0	165.0					16																	66642254		2201	4300	6501	SO:0001583	missense	123920				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66642254G>A	AK056324	CCDS10815.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140931	ENSG00000140931			19174	protein-coding gene	gene with protein product		607886	"""chemokine-like factor superfamily 3"""	CKLFSF3		15087455	Standard	NM_144601		Approved	FLJ31762, BNAS2	uc002epv.3	Q96MX0	OTTHUMG00000137503	ENST00000424011.2:c.190G>A	16.37:g.66642254G>A	ENSP00000400482:p.Ala64Thr		OREG0023859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1093	CMTM3_uc002epv.2_Missense_Mutation_p.A64T|CMTM3_uc002epw.2_Missense_Mutation_p.A64T|CMTM3_uc002epx.2_Missense_Mutation_p.A64T|CMTM3_uc002epy.2_RNA	p.A64T	NM_001048251	NP_001041716	Q96MX0	CKLF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)	3	449	+		Ovarian(137;0.0563)	64			MARVEL.|Helical; (Potential).		A6NCL9|Q8IUU8|Q8IWQ6|Q8IYE2|Q8IZ39|Q8IZ59	Missense_Mutation	SNP	ENST00000424011.2	37	c.190G>A	CCDS10815.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516104	0.64634	.	.	ENSG00000140931	ENST00000424011;ENST00000361909	T;T	0.25912	1.77;1.77	4.67	4.67	0.58626	Marvel (1);MARVEL-like domain (1);	0.410909	0.26824	N	0.022304	T	0.42607	0.1210	L	0.46741	1.465	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.07809	-1.0753	10	0.22706	T	0.39	-1.5643	16.303	0.82832	0.0:0.0:1.0:0.0	.	64	Q96MX0	CKLF3_HUMAN	T	64	ENSP00000400482:A64T;ENSP00000354579:A64T	ENSP00000354579:A64T	A	+	1	0	CMTM3	65199755	1.000000	0.71417	0.821000	0.32701	0.775000	0.43874	7.398000	0.79919	2.440000	0.82611	0.555000	0.69702	GCA		PASS	0.527	CMTM3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268814.2	NM_144601		30	166	30	166	---	---	---	---
CDH16	1014	broad.mit.edu	37	16	66944338	66944338	+	Silent	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:66944338G>T	ENST00000299752.4	-	15	2185	c.1992C>A	c.(1990-1992)gcC>gcA	p.A664A	CDH16_ENST00000565796.1_Intron|CDH16_ENST00000570262.1_Silent_p.A584A|CDH16_ENST00000394055.3_Splice_Site_p.A642A|CDH16_ENST00000568632.1_Silent_p.A567A	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.A664A(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAAGAGTCAGGGCTGGGGCAG	0.632																																						uc002eql.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1990-1992)GCC>GCA		cadherin 16 precursor							87.0	95.0	92.0					16																	66944338		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66944338G>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1992C>A	16.37:g.66944338G>T						CDH16_uc010cdy.2_Silent_p.A642A|CDH16_uc002eqm.2_Silent_p.A567A	p.A664A	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	15	2065	-		Ovarian(137;0.0563)	664			Extracellular (Potential).|Cadherin 6.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.1992C>A	CCDS10823.1																																																																																				PASS	0.632	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		31	93	31	93	---	---	---	---
ZDHHC1	29800	broad.mit.edu	37	16	67432782	67432782	+	Missense_Mutation	SNP	T	T	A	rs545412296		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:67432782T>A	ENST00000348579.2	-	6	937	c.596A>T	c.(595-597)tAt>tTt	p.Y199F	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	199					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Y199F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CACGAAGACATATGTGGCCAC	0.592																																						uc010vjm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)TAT>TTT		zinc finger, DHHC-type containing 1							86.0	78.0	80.0					16																	67432782		2198	4300	6498	SO:0001583	missense	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67432782T>A	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.596A>T	16.37:g.67432782T>A	ENSP00000340299:p.Tyr199Phe						p.Y199F	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	6	900	-		Ovarian(137;0.223)	199			Helical; (Potential).		O15461	Missense_Mutation	SNP	ENST00000348579.2	37	c.596A>T	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799905	0.70567	.	.	ENSG00000159714	ENST00000348579	T	0.24151	1.87	4.81	4.81	0.61882	.	1.782360	0.02672	N	0.108659	T	0.50973	0.1647	L	0.50847	1.595	0.40763	D	0.983022	D	0.76494	0.999	D	0.85130	0.997	T	0.01553	-1.1326	10	0.39692	T	0.17	.	13.53	0.61617	0.0:0.0:0.0:1.0	.	199	Q8WTX9	ZDHC1_HUMAN	F	199	ENSP00000340299:Y199F	ENSP00000340299:Y199F	Y	-	2	0	ZDHHC1	65990283	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.900000	0.69853	1.808000	0.52836	0.408000	0.27601	TAT		PASS	0.592	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		9	23	9	23	---	---	---	---
ADAT1	23536	broad.mit.edu	37	16	75646552	75646552	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:75646552C>A	ENST00000307921.3	-	7	777	c.632G>T	c.(631-633)gGa>gTa	p.G211V		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	211	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.G211V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GTGAGCTGCTCCGTTGGTGAC	0.522																																						uc002feo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(631-633)GGA>GTA		adenosine deaminase, tRNA-specific 1							187.0	179.0	182.0					16																	75646552		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75646552C>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.632G>T	16.37:g.75646552C>A	ENSP00000310015:p.Gly211Val					ADAT1_uc002fep.1_Missense_Mutation_p.G62V	p.G211V	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN			7	734	-			211			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.632G>T	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137529	0.37728	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	T	0.14640	2.49	5.75	3.47	0.39725	Adenosine deaminase/editase (3);	4.993250	0.00166	N	0.000000	T	0.19366	0.0465	L	0.60455	1.87	0.09310	N	0.999992	P	0.46784	0.884	P	0.44860	0.462	T	0.14392	-1.0474	10	0.22706	T	0.39	-11.4795	5.7665	0.18229	0.0:0.6198:0.1606:0.2195	.	211	Q9BUB4	ADAT1_HUMAN	V	211;182	ENSP00000310015:G211V	ENSP00000310015:G211V	G	-	2	0	ADAT1	74204053	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.319000	0.08039	1.438000	0.47492	0.655000	0.94253	GGA		PASS	0.522	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		28	154	28	154	---	---	---	---
WWOX	51741	broad.mit.edu	37	16	79245607	79245607	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:79245607G>A	ENST00000566780.1	+	9	1525	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	WWOX_ENST00000406884.2_Missense_Mutation_p.E207K|RP11-679B19.2_ENST00000569677.1_lincRNA|WWOX_ENST00000539474.2_Silent_p.Q196Q|WWOX_ENST00000402655.2_Missense_Mutation_p.R171K	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	387	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)	p.R228K(1)|p.E387K(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GCCCTCACCAGAAGCTCAGAG	0.622																																						uc002ffk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1159-1161)GAA>AAA		WW domain-containing oxidoreductase isoform 1							60.0	63.0	62.0					16																	79245607		2000	4173	6173	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:79245607G>A	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1159G>A	16.37:g.79245607G>A	ENSP00000457230:p.Glu387Lys					WWOX_uc010vnk.1_Missense_Mutation_p.E274K|WWOX_uc002ffl.2_Missense_Mutation_p.E207K|WWOX_uc010che.2_Missense_Mutation_p.R171K	p.E387K	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	9	1284	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	387			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.1159G>A	CCDS42196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.059|4.059	0.008794|0.008794	0.07912|0.07912	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000408984;ENST00000406884|ENST00000402655;ENST00000299644	T|T	0.65916|0.37411	-0.18|1.2	5.67|5.67	3.68|3.68	0.42216|0.42216	NAD(P)-binding domain (1);|.	2508.520000|.	0.00166|.	N|.	0.000000|.	T|T	0.23451|0.23451	0.0567|0.0567	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	B;B|P	0.19583|0.34724	0.0;0.037|0.465	B;B|B	0.20767|0.28011	0.002;0.031|0.085	T|T	0.03739|0.03739	-1.1008|-1.1008	9|9	.|0.49607	.|T	.|0.09	.|.	11.0665|11.0665	0.47979|0.47979	0.0663:0.2412:0.6925:0.0|0.0663:0.2412:0.6925:0.0	.|.	207;387|171	Q9NZC7-5;Q9NZC7|Q9NZC7-6	.;WWOX_HUMAN|.	K|K	387;207|171;228	ENSP00000384495:E207K|ENSP00000384238:R171K	.|ENSP00000299644:R228K	E|R	+|+	1|2	0|0	WWOX|WWOX	77803108|77803108	0.998000|0.998000	0.40836|0.40836	0.009000|0.009000	0.14445|0.14445	0.087000|0.087000	0.18053|0.18053	2.957000|2.957000	0.49137|0.49137	0.717000|0.717000	0.32145|0.32145	0.563000|0.563000	0.77884|0.77884	GAA|AGA		PASS	0.622	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			23	82	23	82	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81190635	81190635	+	RNA	SNP	G	G	A	rs532290320	byFrequency	TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr16:81190635G>A	ENST00000525539.1	-	0	3953				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.F1318F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGTGCTTCCGAAGAAAGTGA	0.577													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17534	0.001		0.0	False		,,,				2504	0.0					uc002fgh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3952-3954)TTC>TTT		polycystin 1-like 2 isoform a							41.0	44.0	43.0					16																	81190635		2145	4242	6387			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81190635G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190635G>A						PKD1L2_uc002fgg.1_RNA	p.F1318F	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			24	3954	-			1318			GPS.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.3954C>T																																																																																					PASS	0.577	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			5	14	5	14	---	---	---	---
RP11-64J4.2	0	broad.mit.edu	37	17	3214573	3214573	+	RNA	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:3214573C>T	ENST00000573491.1	-	0	359																		p.C323C(1)									GTTCCCTATGCTGCCTGCAGT	0.572																																						uc002fvi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(967-969)TGC>TGT		RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;							139.0	118.0	125.0					17																	3214573		2203	4300	6503			390756							g.chr17:3214573C>T																													17.37:g.3214573C>T							p.C323C	NR_024128						1	1035	+									Silent	SNP	ENST00000573491.1	37	c.969C>T																																																																																					PASS	0.572	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			26	94	26	94	---	---	---	---
DVL2	1856	broad.mit.edu	37	17	7130726	7130726	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:7130726G>A	ENST00000005340.5	-	12	1642	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Silent_p.L448L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	454	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)	p.L454L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCCATACCCAGAAAGGCATTA	0.597																																						uc002gez.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)	2						c.(1360-1362)CTG>TTG		dishevelled 2							66.0	71.0	69.0					17																	7130726		2203	4300	6503	SO:0001819	synonymous_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7130726G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1360C>T	17.37:g.7130726G>A						DVL2_uc010vtr.1_Silent_p.L448L	p.L454L	NM_004422	NP_004413	O14641	DVL2_HUMAN			12	1642	-			454			DEP.		D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	c.1360C>T	CCDS11091.1																																																																																				PASS	0.597	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		17	69	17	69	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_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		11	36	11	36	---	---	---	---
C17orf59	54785	broad.mit.edu	37	17	8093017	8093017	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:8093017C>T	ENST00000389017.4	-	1	547	c.442G>A	c.(442-444)Gag>Aag	p.E148K	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	148								p.E148K(1)|p.E14K(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6						GCGGCCGCCTCCTCGTCGTTG	0.731																																						uc010vut.1																			2	Substitution - Missense(2)		lung(2)		0						c.(442-444)GAG>AAG		hypothetical protein LOC54785							13.0	16.0	15.0					17																	8093017		2082	4103	6185	SO:0001583	missense	54785							g.chr17:8093017C>T	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.442G>A	17.37:g.8093017C>T	ENSP00000373669:p.Glu148Lys						p.E148K	NM_017622	NP_060092	Q96GS4	CQ059_HUMAN			1	548	-			148					Q53HS4|Q9NXW8	Missense_Mutation	SNP	ENST00000389017.4	37	c.442G>A	CCDS11133.2	.	.	.	.	.	.	.	.	.	.	C	9.344	1.063817	0.20067	.	.	ENSG00000196544	ENST00000389017	.	.	.	2.49	2.49	0.30216	.	0.613475	0.13812	N	0.361049	T	0.19685	0.0473	L	0.27053	0.805	0.09310	N	1	B	0.31893	0.345	B	0.16722	0.016	T	0.10636	-1.0621	9	0.16896	T	0.51	-3.0791	8.9758	0.35935	0.0:1.0:0.0:0.0	.	148	Q96GS4	CQ059_HUMAN	K	148	.	ENSP00000373669:E148K	E	-	1	0	C17orf59	8033742	0.083000	0.21467	0.045000	0.18777	0.518000	0.34316	1.107000	0.31110	1.319000	0.45190	0.561000	0.74099	GAG		PASS	0.731	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622		3	27	3	27	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10354133	10354133	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:10354133C>G	ENST00000255381.2	-	29	4055	c.3945G>C	c.(3943-3945)caG>caC	p.Q1315H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1315					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.Q1315H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATTCTTCAATCTGTTGTGTAA	0.403																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3943-3945)CAG>CAC		myosin, heavy polypeptide 4, skeletal muscle							173.0	157.0	162.0					17																	10354133		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10354133C>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3945G>C	17.37:g.10354133C>G	ENSP00000255381:p.Gln1315His					uc002gml.1_Intron	p.Q1315H	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			29	4056	-			1315			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.3945G>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136464	0.56936	.	.	ENSG00000141048	ENST00000255381	D	0.83335	-1.71	5.71	1.5	0.22942	Myosin tail (1);	0.000000	0.35585	U	0.003106	D	0.90752	0.7097	M	0.93328	3.405	0.41414	D	0.987752	D	0.69078	0.997	D	0.69479	0.964	D	0.88586	0.3140	10	0.72032	D	0.01	.	6.0165	0.19605	0.1268:0.5327:0.0:0.3405	.	1315	Q9Y623	MYH4_HUMAN	H	1315	ENSP00000255381:Q1315H	ENSP00000255381:Q1315H	Q	-	3	2	MYH4	10294858	0.996000	0.38824	1.000000	0.80357	0.944000	0.59088	0.433000	0.21477	0.447000	0.26695	-0.140000	0.14226	CAG		PASS	0.403	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		30	167	30	167	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10404771	10404771	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:10404771A>C	ENST00000226207.5	-	27	3488	c.3394T>G	c.(3394-3396)Tcc>Gcc	p.S1132A	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1132					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1132A(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGGCCCGGGAGGCCCGCTCT	0.567																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3394-3396)TCC>GCC		myosin, heavy chain 1, skeletal muscle, adult							39.0	44.0	42.0					17																	10404771		2203	4295	6498	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404771A>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3394T>G	17.37:g.10404771A>C	ENSP00000226207:p.Ser1132Ala					uc002gml.1_Intron	p.S1132A	NM_005963	NP_005954	P12882	MYH1_HUMAN			27	3488	-			1132			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3394T>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	A	6.060	0.379437	0.11466	.	.	ENSG00000109061	ENST00000226207	T	0.71934	-0.61	5.3	5.3	0.74995	Myosin tail (1);	0.000000	0.42964	U	0.000628	T	0.26376	0.0644	N	0.00077	-2.24	0.44241	D	0.99708	B	0.02656	0.0	B	0.04013	0.001	T	0.51585	-0.8687	10	0.02654	T	1	.	11.5408	0.50665	0.8506:0.1494:0.0:0.0	.	1132	P12882	MYH1_HUMAN	A	1132	ENSP00000226207:S1132A	ENSP00000226207:S1132A	S	-	1	0	MYH1	10345496	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.092000	0.50207	2.135000	0.66039	0.528000	0.53228	TCC		PASS	0.567	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		13	100	13	100	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26967595	26967595	+	Silent	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:26967595G>C	ENST00000528896.2	-	8	947	c.873C>G	c.(871-873)tcC>tcG	p.S291S	KIAA0100_ENST00000389003.3_Silent_p.S148S|KIAA0100_ENST00000544884.1_Silent_p.S148S	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	291						extracellular region (GO:0005576)		p.S291S(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GACTATTCATGGACAATACCA	0.478																																						uc002hbu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(871-873)TCC>TCG		hypothetical protein LOC9703 precursor							184.0	162.0	169.0					17																	26967595		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26967595G>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.873C>G	17.37:g.26967595G>C						KIAA0100_uc002hbv.2_Silent_p.S291S|KIAA0100_uc010crr.1_Silent_p.S148S	p.S291S	NM_014680	NP_055495	Q14667	K0100_HUMAN			8	972	-	Lung NSC(42;0.00431)		291					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.873C>G	CCDS32595.1																																																																																				PASS	0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		20	104	20	104	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29509539	29509539	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:29509539G>C	ENST00000358273.4	+	8	1127	c.744G>C	c.(742-744)aaG>aaC	p.K248N	NF1_ENST00000356175.3_Missense_Mutation_p.K248N|NF1_ENST00000431387.4_Missense_Mutation_p.K248N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	248					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.K248N(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGCAGAAAAGCTATTTGACT	0.358			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)		soft_tissue(7)|autonomic_ganglia(3)|lung(2)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(742-744)AAG>AAC		neurofibromin isoform 1							87.0	75.0	79.0					17																	29509539		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29509539G>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.744G>C	17.37:g.29509539G>C	ENSP00000351015:p.Lys248Asn	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Missense_Mutation_p.K248N|NF1_uc002hgf.1_Missense_Mutation_p.K248N|NF1_uc002hgh.2_Missense_Mutation_p.K248N|NF1_uc010csn.1_Missense_Mutation_p.K108N	p.K248N	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	8	1077	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	248					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.744G>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417234	0.42918	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	T;T;T	0.81330	-1.48;-1.48;-1.48	5.13	0.556	0.17253	.	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	L	0.54323	1.7	0.80722	D	1	B;B;B;P;P	0.41131	0.411;0.447;0.144;0.739;0.739	B;B;B;P;B	0.45232	0.146;0.21;0.048;0.474;0.267	T	0.72276	-0.4341	10	0.32370	T	0.25	.	12.3787	0.55295	0.1897:0.0:0.8103:0.0	.	248;248;248;248;248	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	N	248	ENSP00000412921:K248N;ENSP00000351015:K248N;ENSP00000348498:K248N	ENSP00000348498:K248N	K	+	3	2	NF1	26533665	1.000000	0.71417	0.917000	0.36280	0.951000	0.60555	0.959000	0.29240	0.068000	0.16574	0.561000	0.74099	AAG		PASS	0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	69	4	69	---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30533963	30533963	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:30533963A>C	ENST00000333942.6	+	17	1690	c.1451A>C	c.(1450-1452)gAa>gCa	p.E484A	RHOT1_ENST00000358365.3_Missense_Mutation_p.E484A|RHOT1_ENST00000545287.2_Missense_Mutation_p.E484A|RHOT1_ENST00000581094.1_Missense_Mutation_p.E484A|RHOT1_ENST00000394692.2_Missense_Mutation_p.E484A|RHOT1_ENST00000583994.1_Missense_Mutation_p.E357A|RHOT1_ENST00000354266.3_Missense_Mutation_p.E463A	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	484	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E484A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTTCTAACTGAAGCTGAAATC	0.318																																						uc002hgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1450-1452)GAA>GCA		ras homolog gene family, member T1 isoform 3							143.0	129.0	134.0					17																	30533963		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30533963A>C	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1451A>C	17.37:g.30533963A>C	ENSP00000334724:p.Glu484Ala					RHOT1_uc002hgw.2_Missense_Mutation_p.E484A|RHOT1_uc002hgy.2_Missense_Mutation_p.E484A|RHOT1_uc002hha.2_Missense_Mutation_p.E357A|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.E357A|RHOT1_uc010wby.1_Missense_Mutation_p.E484A|RHOT1_uc002hhb.2_Missense_Mutation_p.E463A|RHOT1_uc002hgv.2_Missense_Mutation_p.E484A	p.E484A	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN			17	1690	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	484			Miro 2.|Mitochondrial intermembrane (Potential).		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.1451A>C	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018694	0.35606	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T;T	0.67865	-0.19;-0.29;-0.19;-0.19	5.66	5.66	0.87406	Mitochondrial Rho-like (1);MIRO (1);	0.307812	0.39834	N	0.001242	T	0.52240	0.1722	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.47774	-0.9091	10	0.12103	T	0.63	-12.9997	11.8387	0.52342	0.8539:0.1461:0.0:0.0	.	484;484;484;484	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	A	484	ENSP00000351132:E484A;ENSP00000346215:E484A;ENSP00000378184:E484A;ENSP00000334724:E484A	ENSP00000334724:E484A	E	+	2	0	RHOT1	27558076	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.012000	0.64017	2.155000	0.67459	0.377000	0.23210	GAA		PASS	0.318	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		26	112	26	112	---	---	---	---
KRT9	3857	broad.mit.edu	37	17	39726126	39726126	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:39726126C>G	ENST00000246662.4	-	3	932	c.867G>C	c.(865-867)aaG>aaC	p.K289N	KRT9_ENST00000588431.1_Missense_Mutation_p.K56N	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	289	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.K289N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TATGATTCTTCTTGAGGGCCA	0.537																																						uc002hxe.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(865-867)AAG>AAC		keratin 9							100.0	101.0	101.0					17																	39726126		2200	4295	6495	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39726126C>G		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.867G>C	17.37:g.39726126C>G	ENSP00000246662:p.Lys289Asn					JUP_uc010wfs.1_Intron	p.K289N	NM_000226	NP_000217	P35527	K1C9_HUMAN			3	933	-		Breast(137;0.000307)	289			Rod.|Coil 1B.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.867G>C	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911369	0.52439	.	.	ENSG00000171403	ENST00000246662	D	0.93547	-3.24	4.86	2.84	0.33178	Filament (1);	0.249082	0.20923	N	0.083245	D	0.95940	0.8678	M	0.86805	2.84	0.29942	N	0.821017	D	0.58268	0.982	P	0.59825	0.864	D	0.92785	0.6243	10	0.87932	D	0	.	11.0067	0.47637	0.0:0.8453:0.0:0.1547	.	289	P35527	K1C9_HUMAN	N	289	ENSP00000246662:K289N	ENSP00000246662:K289N	K	-	3	2	KRT9	36979652	1.000000	0.71417	0.925000	0.36789	0.365000	0.29674	1.620000	0.36976	0.452000	0.26830	0.491000	0.48974	AAG		PASS	0.537	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		49	212	49	212	---	---	---	---
G6PC	2538	broad.mit.edu	37	17	41052951	41052951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:41052951C>T	ENST00000253801.2	+	1	137	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	G6PC_ENST00000585489.1_Nonsense_Mutation_p.Q20*|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000592383.1_Nonsense_Mutation_p.Q20*	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	20			Q -> R (in GSD1A). {ECO:0000269|PubMed:10612834, ECO:0000269|PubMed:12373566}.		carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.Q20*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACATTACCTCCAGGTGAATTA	0.502																																						uc002icb.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(58-60)CAG>TAG		glucose-6-phosphatase, catalytic subunit							123.0	97.0	106.0					17																	41052951		2203	4300	6503	SO:0001587	stop_gained	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41052951C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.58C>T	17.37:g.41052951C>T	ENSP00000253801:p.Gln20*					LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Nonsense_Mutation_p.Q22*	p.Q20*	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	137	+		Breast(137;0.000143)	20		Q -> R (in GSD1A).	Lumenal (Potential).		A1L4C0|B4E1C3|K7EL82	Nonsense_Mutation	SNP	ENST00000253801.2	37	c.58C>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	37	6.189933	0.97362	.	.	ENSG00000131482	ENST00000253801	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.078	0.93171	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000253801:Q20X	Q	+	1	0	G6PC	38306477	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.247000	0.78257	2.740000	0.93945	0.650000	0.86243	CAG		PASS	0.502	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		23	109	23	109	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901872	51901872	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:51901872C>T	ENST00000268919.4	+	1	1634	c.1478C>T	c.(1477-1479)cCa>cTa	p.P493L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	493	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P493L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTCACACCCCATTCAGAGCC	0.527																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1477-1479)CCA>CTA		kinesin family member 2B							50.0	47.0	48.0					17																	51901872		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901872C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1478C>T	17.37:g.51901872C>T	ENSP00000268919:p.Pro493Leu					uc010wna.1_RNA	p.P493L	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1634	+			493					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1478C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216171	0.79352	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.36878	1.23	5.73	5.73	0.89815	Kinesin, motor domain (4);	0.000000	0.44688	D	0.000438	T	0.76652	0.4017	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85764	0.1351	10	0.87932	D	0	.	16.9872	0.86342	0.0:1.0:0.0:0.0	.	493	Q8N4N8	KIF2B_HUMAN	L	493;381	ENSP00000268919:P493L	ENSP00000268919:P493L	P	+	2	0	KIF2B	49256871	1.000000	0.71417	0.973000	0.42090	0.837000	0.47467	4.911000	0.63328	2.854000	0.98071	0.655000	0.94253	CCA		PASS	0.527	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		12	58	12	58	---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72245212	72245212	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr17:72245212C>T	ENST00000269346.4	+	7	941	c.867C>T	c.(865-867)atC>atT	p.I289I	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000441391.2_5'UTR|TTYH2_ENST00000529107.1_Silent_p.I268I	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	289						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.I289I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						AGGGCCAGATCAGCACAGGTA	0.572																																						uc002jkc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(865-867)ATC>ATT		tweety 2 isoform 1							154.0	119.0	131.0					17																	72245212		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72245212C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.867C>T	17.37:g.72245212C>T						TTYH2_uc010wqw.1_Silent_p.I268I|TTYH2_uc002jkd.2_5'UTR	p.I289I	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			7	898	+			289			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.867C>T	CCDS32717.1																																																																																				PASS	0.572	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			16	53	16	53	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5423483	5423483	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr18:5423483C>A	ENST00000341928.2	-	11	1573	c.1233G>T	c.(1231-1233)agG>agT	p.R411S	EPB41L3_ENST00000342933.3_Missense_Mutation_p.R411S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R411S|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R411S|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R411S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	411	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R411S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCGCTTGTGTCCTGCCACTAT	0.458																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1231-1233)AGG>AGT		erythrocyte membrane protein band 4.1-like 3							122.0	96.0	105.0					18																	5423483		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5423483C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1233G>T	18.37:g.5423483C>A	ENSP00000343158:p.Arg411Ser					EPB41L3_uc010wzh.1_Missense_Mutation_p.R411S|EPB41L3_uc002kmu.1_Missense_Mutation_p.R411S|EPB41L3_uc010dkq.1_Missense_Mutation_p.R302S|EPB41L3_uc010dkr.2_5'UTR	p.R411S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			11	1319	-			411			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1233G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661234	0.67700	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	6.08	-4.6	0.03390	FERM adjacent (FA) (1);	0.038946	0.85682	D	0.000000	D	0.98305	0.9438	H	0.94847	3.59	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.998;0.996;0.998	D	0.97490	1.0053	10	0.72032	D	0.01	.	18.2003	0.89836	0.0:0.7035:0.0:0.2965	.	411;302;411;411	F5GX05;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	S	411;302;411;302;411;411	ENSP00000343158:R411S;ENSP00000441174:R411S;ENSP00000341138:R411S;ENSP00000382981:R411S	ENSP00000343158:R411S	R	-	3	2	EPB41L3	5413483	0.939000	0.31865	0.953000	0.39169	0.601000	0.36947	0.023000	0.13533	-0.700000	0.05070	-0.218000	0.12543	AGG		PASS	0.458	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		8	60	8	60	---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9254883	9254883	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr18:9254883A>T	ENST00000262126.4	+	9	1858	c.1618A>T	c.(1618-1620)Act>Tct	p.T540S	ANKRD12_ENST00000400020.3_Missense_Mutation_p.T517S|ANKRD12_ENST00000383440.2_Missense_Mutation_p.T517S	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	540						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T540S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCATATTTCCACTGGTAAATC	0.348																																						uc002knv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1618-1620)ACT>TCT		ankyrin repeat domain 12 isoform 1							51.0	50.0	50.0					18																	9254883		2203	4295	6498	SO:0001583	missense	23253					nucleus		g.chr18:9254883A>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1618A>T	18.37:g.9254883A>T	ENSP00000262126:p.Thr540Ser					ANKRD12_uc002knw.2_Missense_Mutation_p.T517S|ANKRD12_uc002knx.2_Missense_Mutation_p.T517S|ANKRD12_uc010dkx.1_Missense_Mutation_p.T247S	p.T540S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	1875	+			540					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.1618A>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	5.611	0.297545	0.10622	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92048	-2.96;-2.96	5.86	3.52	0.40303	.	0.329098	0.34200	N	0.004174	T	0.81833	0.4906	L	0.34521	1.04	0.24811	N	0.992644	B;B;B	0.12013	0.005;0.003;0.002	B;B;B	0.12156	0.007;0.004;0.002	T	0.63580	-0.6605	10	0.05620	T	0.96	-26.3537	3.5216	0.07744	0.5436:0.1954:0.261:0.0	.	167;517;540	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	S	517;540;247	ENSP00000372932:T517S;ENSP00000262126:T540S	ENSP00000262126:T540S	T	+	1	0	ANKRD12	9244883	0.994000	0.37717	0.916000	0.36221	0.881000	0.50899	1.810000	0.38932	1.053000	0.40415	0.477000	0.44152	ACT		PASS	0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		7	84	7	84	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13113642	13113642	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr18:13113642G>C	ENST00000325971.8	+	39	6910	c.5317G>C	c.(5317-5319)Gaa>Caa	p.E1773Q	CEP192_ENST00000430049.2_Missense_Mutation_p.E1894Q|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.E2369Q			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1773					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.E1773Q(1)|p.E2369Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGGGATGTTGAATGTCACCC	0.398																																						uc010xac.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(7105-7107)GAA>CAA		centrosomal protein 192kDa							103.0	101.0	101.0					18																	13113642		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13113642G>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5317G>C	18.37:g.13113642G>C	ENSP00000317156:p.Glu1773Gln					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.E1894Q|CEP192_uc002kru.2_Intron|CEP192_uc002krv.2_Missense_Mutation_p.E791Q|CEP192_uc002krw.2_Missense_Mutation_p.E518Q|CEP192_uc002krx.2_Missense_Mutation_p.E373Q|CEP192_uc002kry.2_Intron	p.E2369Q	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			41	7185	+			2369					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.7105G>C		.	.	.	.	.	.	.	.	.	.	G	25.2	4.615353	0.87359	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.08546	3.09;3.08;3.09	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	L	0.61387	1.9	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.87578	0.998;0.926;0.998;0.998	T	0.00712	-1.1598	10	0.87932	D	0	-19.8209	18.7346	0.91749	0.0:0.0:1.0:0.0	.	1894;2369;373;971	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	Q	2369;1773;1773;1894;373	ENSP00000427550:E2369Q;ENSP00000317156:E1773Q;ENSP00000389190:E1894Q	ENSP00000317156:E1773Q	E	+	1	0	CEP192	13103642	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.820000	0.86633	2.509000	0.84616	0.462000	0.41574	GAA		PASS	0.398	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		26	148	26	148	---	---	---	---
GAREM	64762	broad.mit.edu	37	18	29867683	29867683	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr18:29867683G>A	ENST00000269209.6	-	4	880	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Missense_Mutation_p.L293F			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	293	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.L293F(1)									TGCATGGGGAGGATCTTGTTG	0.547																																						uc002kxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(877-879)CTC>TTC		family with sequence similarity 59, member A							135.0	112.0	120.0					18																	29867683		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29867683G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.877C>T	18.37:g.29867683G>A	ENSP00000269209:p.Leu293Phe					FAM59A_uc002kxk.1_Missense_Mutation_p.L293F	p.L293F	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			4	933	-			293			CABIT.		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.877C>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367032	0.41902	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.14144	2.53;2.53	5.65	4.72	0.59763	.	0.239544	0.41712	D	0.000822	T	0.12178	0.0296	N	0.22421	0.69	0.39792	D	0.972449	P;P	0.47841	0.901;0.565	P;B	0.47299	0.543;0.317	T	0.01071	-1.1461	10	0.52906	T	0.07	-27.325	8.9327	0.35680	0.0:0.1186:0.604:0.2773	.	293;293	Q9H706;Q9H706-3	FA59A_HUMAN;.	F	293	ENSP00000382165:L293F;ENSP00000269209:L293F	ENSP00000269209:L293F	L	-	1	0	FAM59A	28121681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.799000	0.47892	2.821000	0.97095	0.561000	0.74099	CTC		PASS	0.547	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		25	109	25	109	---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39637940	39637940	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr18:39637940G>T	ENST00000262039.4	+	22	2443	c.2357G>T	c.(2356-2358)gGa>gTa	p.G786V	PIK3C3_ENST00000588156.1_Missense_Mutation_p.G10V|PIK3C3_ENST00000593098.1_Missense_Mutation_p.G271V|PIK3C3_ENST00000398870.3_Missense_Mutation_p.G723V	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	786	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.G786V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATGGTAGAAGGAATGGGGGGC	0.473										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(1)|breast(1)	10						c.(2356-2358)GGA>GTA		catalytic phosphatidylinositol 3-kinase 3							79.0	76.0	77.0					18																	39637940		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39637940G>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2357G>T	18.37:g.39637940G>T	ENSP00000262039:p.Gly786Val	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.G723V|PIK3C3_uc002laq.2_Missense_Mutation_p.G271V	p.G786V	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			22	2415	+			786			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.2357G>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983164	0.74474	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.79554	-1.28;-1.28	5.21	5.21	0.72293	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.098987	0.64402	D	0.000002	T	0.73799	0.3633	N	0.16833	0.445	0.80722	D	1	B;B	0.25772	0.134;0.03	B;B	0.37833	0.259;0.091	T	0.68062	-0.5508	9	.	.	.	.	18.3664	0.90392	0.0:0.0:1.0:0.0	.	723;786	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	V	786;723	ENSP00000262039:G786V;ENSP00000381845:G723V	.	G	+	2	0	PIK3C3	37891938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.393000	0.97256	2.422000	0.82143	0.555000	0.69702	GGA		PASS	0.473	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		13	72	13	72	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54423947	54423947	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr18:54423947C>T	ENST00000254442.3	+	15	2334	c.2123C>T	c.(2122-2124)tCt>tTt	p.S708F	WDR7_ENST00000357574.3_Missense_Mutation_p.S708F|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	708					hematopoietic progenitor cell differentiation (GO:0002244)			p.S708F(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAAGAAGCCTCTAGGCCGAAT	0.428																																						uc002lgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2122-2124)TCT>TTT		rabconnectin-3 beta isoform 1							77.0	80.0	79.0					18																	54423947		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54423947C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2123C>T	18.37:g.54423947C>T	ENSP00000254442:p.Ser708Phe					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S708F	p.S708F	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2334	+			708					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.2123C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973127	0.74246	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.68479	-0.33;-0.32	5.96	5.96	0.96718	.	0.117676	0.64402	D	0.000010	T	0.70395	0.3219	N	0.19112	0.55	0.52501	D	0.999954	D;P	0.60575	0.988;0.94	P;P	0.60012	0.867;0.564	T	0.72717	-0.4209	10	0.59425	D	0.04	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	708;708	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	F	708	ENSP00000254442:S708F;ENSP00000350187:S708F	ENSP00000254442:S708F	S	+	2	0	WDR7	52574945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.053000	0.71089	2.826000	0.97356	0.655000	0.94253	TCT		PASS	0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			18	140	18	140	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56247398	56247398	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr18:56247398C>T	ENST00000361673.3	-	4	823	c.610G>A	c.(610-612)Gat>Aat	p.D204N	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	204						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D204N(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACTTGGATCATAAGCCTCT	0.398																																						uc002lhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(610-612)GAT>AAT		heart alpha-kinase							161.0	169.0	166.0					18																	56247398		2172	4275	6447	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247398C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.610G>A	18.37:g.56247398C>T	ENSP00000354991:p.Asp204Asn						p.D204N	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	824	-			204					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.610G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548379	0.45383	.	.	ENSG00000198796	ENST00000361673	T	0.44482	0.92	5.64	2.29	0.28610	.	.	.	.	.	T	0.23289	0.0563	L	0.34521	1.04	0.09310	N	1	B	0.24043	0.096	B	0.18263	0.021	T	0.30001	-0.9993	9	0.02654	T	1	-5.8132	5.2278	0.15404	0.0:0.4186:0.0:0.5814	.	204	Q86TB3	ALPK2_HUMAN	N	204	ENSP00000354991:D204N	ENSP00000354991:D204N	D	-	1	0	ALPK2	54398378	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	0.099000	0.15210	0.641000	0.30601	0.563000	0.77884	GAT		PASS	0.398	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		13	347	13	347	---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5243974	5243974	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:5243974G>A	ENST00000587303.1	-	10	1607	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V	PTPRS_ENST00000353284.2_Missense_Mutation_p.A490V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A499V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A503V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A490V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A490V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A490V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A504V|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	503	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A503V(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGAGGTGAAGGCGAGCACCCG	0.706																																						uc002mbv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(1507-1509)GCC>GTC		protein tyrosine phosphatase, receptor type,							57.0	45.0	49.0					19																	5243974		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5243974G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1508C>T	19.37:g.5243974G>A	ENSP00000467537:p.Ala503Val					PTPRS_uc002mbu.1_Missense_Mutation_p.A490V|PTPRS_uc010xin.1_Missense_Mutation_p.A490V|PTPRS_uc002mbw.2_Missense_Mutation_p.A490V|PTPRS_uc002mbx.2_Missense_Mutation_p.A494V|PTPRS_uc002mby.2_Missense_Mutation_p.A490V	p.A503V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1742	-			503			Extracellular (Potential).|Fibronectin type-III 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1508C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863583	0.91511	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	3.51	3.51	0.40186	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000004	D	0.89015	0.6595	M	0.93550	3.43	0.80722	D	1	P;P;P;D;D;P	0.89917	0.697;0.915;0.72;1.0;1.0;0.65	P;P;B;D;D;B	0.87578	0.462;0.584;0.365;0.998;0.997;0.34	D	0.92037	0.5638	10	0.62326	D	0.03	.	15.2379	0.73447	0.0:0.0:1.0:0.0	.	503;490;494;490;503;516	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	516;504;503;503;503;499;490;503;494;490	ENSP00000361489:A504V;ENSP00000349932:A503V;ENSP00000262963:A499V;ENSP00000269907:A490V;ENSP00000327313:A490V	ENSP00000262963:A499V	A	-	2	0	PTPRS	5194974	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.470000	0.97683	1.821000	0.53095	0.462000	0.41574	GCC		PASS	0.706	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			8	21	8	21	---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5785396	5785396	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:5785396G>C	ENST00000309061.7	-	12	1974	c.1878C>G	c.(1876-1878)atC>atG	p.I626M	DUS3L_ENST00000320699.8_Missense_Mutation_p.I384M|PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_Missense_Mutation_p.I48M	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	626							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.I626M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CCAGGCACCTGATGCGGATCC	0.672																																						uc002mdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1876-1878)ATC>ATG		dihydrouridine synthase 3-like isoform 1							16.0	19.0	18.0					19																	5785396		2192	4294	6486	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5785396G>C		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1878C>G	19.37:g.5785396G>C	ENSP00000311977:p.Ile626Met					PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.I384M|DUS3L_uc010duk.2_Missense_Mutation_p.I291M	p.I626M	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			12	1975	-			626					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1878C>G	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023010	0.54683	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.32272	1.69;1.46	4.34	2.18	0.27775	.	0.133337	0.52532	D	0.000064	T	0.53530	0.1802	M	0.93808	3.46	0.41510	D	0.98833	P;D	0.62365	0.824;0.991	P;P	0.60949	0.702;0.881	T	0.55315	-0.8160	10	0.72032	D	0.01	-15.668	3.3817	0.07257	0.2194:0.0:0.5768:0.2038	.	384;626	Q96G46-3;Q96G46	.;DUS3L_HUMAN	M	626;384	ENSP00000311977:I626M;ENSP00000315558:I384M	ENSP00000311977:I626M	I	-	3	3	DUS3L	5736396	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	0.973000	0.29422	0.825000	0.34637	0.555000	0.69702	ATC		PASS	0.672	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		4	10	4	10	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9006672	9006672	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:9006672G>C	ENST00000397910.4	-	44	39779	c.39576C>G	c.(39574-39576)ttC>ttG	p.F13192L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13194	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.F13192L(1)|p.F344L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCGTGATGTTGAACTTCCTGG	0.532																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39574-39576)TTC>TTG		mucin 16							255.0	210.0	224.0					19																	9006672		2000	4153	6153	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006672G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39576C>G	19.37:g.9006672G>C	ENSP00000381008:p.Phe13192Leu					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.F9L|MUC16_uc010xki.1_Intron	p.F13192L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			44	39780	-			13194			SEA 8.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39576C>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.86|16.86	3.239729|3.239729	0.58995|0.58995	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000441155|ENST00000542240	T|.	0.53423|.	0.62|.	2.99|2.99	2.99|2.99	0.34606|0.34606	SEA (1);|.	.|.	.|.	.|.	.|.	T|.	0.69504|.	0.3118|.	M|M	0.83384|0.83384	2.64|2.64	.|.	.|.	.|.	D;B|.	0.69078|.	0.997;0.452|.	D;P|.	0.74348|.	0.983;0.68|.	T|.	0.78226|.	-0.2286|.	8|.	0.87932|.	D|.	0|.	-21.2975|-21.2975	9.6715|9.6715	0.40015|0.40015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	20837;13192|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	L|X	13192;323|32	ENSP00000381008:F13192L|.	ENSP00000381008:F13192L|.	F|S	-|-	3|2	2|0	MUC16|MUC16	8867672|8867672	1.000000|1.000000	0.71417|0.71417	0.753000|0.753000	0.31225|0.31225	0.011000|0.011000	0.07611|0.07611	4.384000|4.384000	0.59607|0.59607	1.957000|1.957000	0.56846|0.56846	0.557000|0.557000	0.71058|0.71058	TTC|TCA		PASS	0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	175	35	175	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9033667	9033667	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:9033667G>A	ENST00000397910.4	-	9	36473	c.36270C>T	c.(36268-36270)gaC>gaT	p.D12090D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12092	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D12090D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGCCGCATGTCCTCCTCGT	0.587																																						uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36268-36270)GAC>GAT		mucin 16							132.0	131.0	131.0					19																	9033667		2125	4225	6350	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9033667G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36270C>T	19.37:g.9033667G>A							p.D12090D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			9	36474	-			12092			SEA 1.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.36270C>T	CCDS54212.1																																																																																				PASS	0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	63	14	63	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9083649	9083649	+	Silent	SNP	G	G	T	rs370245414		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:9083649G>T	ENST00000397910.4	-	1	8369	c.8166C>A	c.(8164-8166)ctC>ctA	p.L2722L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2722	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L2722L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAAGGATGGAGTGGACTTT	0.468																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8164-8166)CTC>CTA		mucin 16		G		0,3884		0,0,1942	141.0	134.0	136.0		8166	0.2	0.1	19		136	1,8257		0,1,4128	no	coding-synonymous	MUC16	NM_024690.2		0,1,6070	TT,TG,GG		0.0121,0.0,0.0082		2722/14508	9083649	1,12141	1942	4129	6071	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083649G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8166C>A	19.37:g.9083649G>T							p.L2722L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8370	-			2722			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.8166C>A	CCDS54212.1																																																																																				PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	121	20	121	---	---	---	---
ZNF443	10224	broad.mit.edu	37	19	12541212	12541212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:12541212G>A	ENST00000301547.5	-	4	1971	c.1774C>T	c.(1774-1776)Caa>Taa	p.Q592*	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	592					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q592*(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TTACCACATTGTGGACATTCA	0.408																																						uc002mtu.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1774-1776)CAA>TAA		zinc finger protein 443							121.0	121.0	121.0					19																	12541212		2203	4300	6503	SO:0001587	stop_gained	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541212G>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1774C>T	19.37:g.12541212G>A	ENSP00000301547:p.Gln592*						p.Q592*	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	1972	-			592			C2H2-type 17.			Nonsense_Mutation	SNP	ENST00000301547.5	37	c.1774C>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572462	0.65765	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	.	.	.	1.26	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.49213	D	0.999765	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.4274	0.16433	0.0:0.591:0.2397:0.1693	.	.	.	.	X	592;564	.	ENSP00000301547:Q592X	Q	-	1	0	ZNF443	12402212	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.840000	0.04363	-0.539000	0.06273	0.461000	0.40582	CAA		PASS	0.408	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		39	175	39	175	---	---	---	---
OR7A10	390892	broad.mit.edu	37	19	14952021	14952021	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:14952021G>A	ENST00000248058.1	-	1	668	c.669C>T	c.(667-669)tcC>tcT	p.S223S		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S223S(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CACGTATGGAGGAAACTATCT	0.458																																						uc002mzx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(667-669)TCC>TCT		olfactory receptor, family 7, subfamily A,							73.0	66.0	68.0					19																	14952021		2203	4300	6503	SO:0001819	synonymous_variant	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952021G>A		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.669C>T	19.37:g.14952021G>A							p.S223S	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			1	669	-	Ovarian(108;0.203)		223			Cytoplasmic (Potential).		Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	c.669C>T	CCDS32936.1																																																																																				PASS	0.458	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		9	81	9	81	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37644315	37644315	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:37644315T>A	ENST00000356958.4	-	5	744	c.486A>T	c.(484-486)gaA>gaT	p.E162D	ZNF585A_ENST00000292841.5_Missense_Mutation_p.E107D|ZNF585A_ENST00000355533.2_Missense_Mutation_p.E107D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E107D|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E107D(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTCCCACATTCAATGCATA	0.373																																						uc002ofo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(484-486)GAA>GAT		zinc finger protein 585A							124.0	121.0	122.0					19																	37644315		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644315T>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.486A>T	19.37:g.37644315T>A	ENSP00000349440:p.Glu162Asp					ZNF585A_uc002ofm.1_Missense_Mutation_p.E107D|ZNF585A_uc002ofn.1_Missense_Mutation_p.E107D	p.E162D	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	717	-			162			C2H2-type 1.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.486A>T		.	.	.	.	.	.	.	.	.	.	T	7.893	0.732708	0.15507	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	3.08	0.601	0.17529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.207341	0.24098	N	0.041569	T	0.22513	0.0543	L	0.49455	1.56	0.23459	N	0.997636	B	0.02656	0.0	B	0.06405	0.002	T	0.15178	-1.0446	10	0.45353	T	0.12	.	5.1468	0.14989	0.0:0.118:0.3847:0.4973	.	162	Q6P3V2	Z585A_HUMAN	D	162;107;107;107	ENSP00000349440:E162D;ENSP00000292841:E107D;ENSP00000375998:E107D;ENSP00000347724:E107D	ENSP00000292841:E107D	E	-	3	2	ZNF585A	42336155	0.000000	0.05858	0.994000	0.49952	0.086000	0.17979	-4.502000	0.00224	0.388000	0.25054	0.459000	0.35465	GAA		PASS	0.373	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		34	249	34	249	---	---	---	---
ZNF383	163087	broad.mit.edu	37	19	37733871	37733871	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:37733871C>G	ENST00000589413.1	+	8	1316	c.733C>G	c.(733-735)Cag>Gag	p.Q245E	ZNF383_ENST00000590503.1_Missense_Mutation_p.Q245E|ZNF383_ENST00000352998.3_Missense_Mutation_p.Q245E			Q8NA42	ZN383_HUMAN	zinc finger protein 383	245					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.Q245E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCAACATCAGAGAATCCA	0.408																																						uc002oft.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(733-735)CAG>GAG		zinc finger protein 383							66.0	65.0	65.0					19																	37733871		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733871C>G	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.733C>G	19.37:g.37733871C>G	ENSP00000464871:p.Gln245Glu					ZNF383_uc002ofs.1_Missense_Mutation_p.Q180E|ZNF383_uc002ofu.1_Missense_Mutation_p.Q245E	p.Q245E	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1313	+			245			C2H2-type 3.		Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.733C>G	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358030	0.24598	.	.	ENSG00000188283	ENST00000352998	T	0.35605	1.3	3.92	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30338	N	0.009854	T	0.28234	0.0697	L	0.37697	1.125	0.20703	N	0.999869	P	0.41624	0.757	B	0.37198	0.243	T	0.24440	-1.0160	10	0.49607	T	0.09	.	13.8156	0.63290	0.0:1.0:0.0:0.0	.	245	Q8NA42	ZN383_HUMAN	E	245	ENSP00000340132:Q245E	ENSP00000340132:Q245E	Q	+	1	0	ZNF383	42425711	0.964000	0.33143	1.000000	0.80357	0.991000	0.79684	1.535000	0.36061	2.163000	0.67991	0.563000	0.77884	CAG		PASS	0.408	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		27	101	27	101	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38985056	38985056	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:38985056C>A	ENST00000359596.3	+	39	6339	c.6339C>A	c.(6337-6339)agC>agA	p.S2113R	RYR1_ENST00000355481.4_Missense_Mutation_p.S2113R|RYR1_ENST00000360985.3_Missense_Mutation_p.S2113R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2113	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.S2113R(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCGTGCAGAGCCCCGAGCTGG	0.662																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(6337-6339)AGC>AGA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						39.0	35.0	37.0					19																	38985056		2202	4300	6502	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38985056C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6339C>A	19.37:g.38985056C>A	ENSP00000352608:p.Ser2113Arg					RYR1_uc002oiu.2_Missense_Mutation_p.S2113R|RYR1_uc002oiv.1_5'Flank	p.S2113R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		39	6469	+	all_cancers(60;7.91e-06)		2113			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6339C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811341	0.50527	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96940	-4.18;-4.18;-4.18	4.57	3.5	0.40072	.	0.064498	0.64402	U	0.000016	D	0.94647	0.8274	M	0.70275	2.135	0.41148	D	0.986002	B;B	0.34015	0.435;0.309	B;B	0.36186	0.219;0.109	D	0.94352	0.7580	10	0.87932	D	0	.	8.9021	0.35501	0.0:0.8071:0.0:0.1929	.	2113;2113	P21817-2;P21817	.;RYR1_HUMAN	R	2113	ENSP00000352608:S2113R;ENSP00000347667:S2113R;ENSP00000354254:S2113R	ENSP00000347667:S2113R	S	+	3	2	RYR1	43676896	0.998000	0.40836	1.000000	0.80357	0.870000	0.49936	0.656000	0.24948	2.358000	0.79984	0.313000	0.20887	AGC		PASS	0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			13	56	13	56	---	---	---	---
NFKBIB	4793	broad.mit.edu	37	19	39398189	39398189	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:39398189C>G	ENST00000313582.5	+	5	893	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A	NFKBIB_ENST00000572515.1_Missense_Mutation_p.P287A|NFKBIB_ENST00000392079.3_Missense_Mutation_p.P255A	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	287					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|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)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.P287A(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCGGCCCAACCCCATCCTCGC	0.701																																					Pancreas(165;1492 2005 6979 7739 34483)	uc002ojw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|kidney(1)	2						c.(859-861)CCC>GCC		nuclear factor of kappa light polypeptide gene							24.0	25.0	24.0					19																	39398189		2193	4290	6483	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39398189C>G	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.859C>G	19.37:g.39398189C>G	ENSP00000312988:p.Pro287Ala					NFKBIB_uc002ojx.2_Missense_Mutation_p.P255A|NFKBIB_uc002ojy.2_Missense_Mutation_p.P287A	p.P287A	NM_002503	NP_002494	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	917	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		287			ANK 6.		A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.859C>G	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	C	2.550	-0.304343	0.05495	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.63255	-0.03;-0.03	4.9	1.41	0.22369	Ankyrin repeat-containing domain (4);	0.269957	0.26792	N	0.022464	T	0.42765	0.1217	N	0.11673	0.155	0.09310	N	0.999991	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.11329	0.006;0.006;0.006	T	0.39418	-0.9615	10	0.54805	T	0.06	-9.5199	14.4946	0.67678	0.0:0.3976:0.6024:0.0	.	310;255;287	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	A	310;287;255	ENSP00000312988:P287A;ENSP00000375929:P255A	ENSP00000312988:P287A	P	+	1	0	NFKBIB	44090029	0.101000	0.21875	0.426000	0.26672	0.877000	0.50540	0.472000	0.22116	0.220000	0.20860	0.591000	0.81541	CCC		PASS	0.701	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		12	48	12	48	---	---	---	---
QPCTL	54814	broad.mit.edu	37	19	46205165	46205165	+	Silent	SNP	C	C	G	rs140632651		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:46205165C>G	ENST00000012049.5	+	6	1217	c.996C>G	c.(994-996)ctC>ctG	p.L332L	QPCTL_ENST00000366382.4_Silent_p.L238L	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	332					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.L332L(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TCCCCTTCCTCCGCAGAGGTA	0.597																																						uc010xxr.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(994-996)CTC>CTG		glutaminyl-peptide cyclotransferase-like isoform							52.0	47.0	49.0					19																	46205165		2203	4300	6503	SO:0001819	synonymous_variant	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46205165C>G	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.996C>G	19.37:g.46205165C>G						QPCTL_uc010ekn.2_Silent_p.L238L	p.L332L	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	6	1217	+		Ovarian(192;0.051)|all_neural(266;0.112)	332					Q53HE4|Q96F74	Silent	SNP	ENST00000012049.5	37	c.996C>G	CCDS12672.1																																																																																				PASS	0.597	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		10	64	10	64	---	---	---	---
QPCTL	54814	broad.mit.edu	37	19	46206205	46206205	+	Silent	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:46206205C>G	ENST00000012049.5	+	7	1268	c.1047C>G	c.(1045-1047)gtC>gtG	p.V349V	QPCTL_ENST00000366382.4_Silent_p.V255V	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	349					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.V349V(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TCCCTGCTGTCTGGCACACCC	0.602																																						uc010xxr.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1045-1047)GTC>GTG		glutaminyl-peptide cyclotransferase-like isoform							178.0	157.0	164.0					19																	46206205		2203	4300	6503	SO:0001819	synonymous_variant	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46206205C>G	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.1047C>G	19.37:g.46206205C>G						QPCTL_uc010ekn.2_Silent_p.V255V	p.V349V	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	7	1268	+		Ovarian(192;0.051)|all_neural(266;0.112)	349					Q53HE4|Q96F74	Silent	SNP	ENST00000012049.5	37	c.1047C>G	CCDS12672.1																																																																																				PASS	0.602	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		39	200	39	200	---	---	---	---
IRF2BP1	26145	broad.mit.edu	37	19	46388288	46388288	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:46388288C>A	ENST00000302165.3	-	1	1088	c.745G>T	c.(745-747)Gat>Tat	p.D249Y		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)	p.D249Y(1)		cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		AGCCCGTGATCCTTCTTGAAG	0.632																																						uc002pds.1																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)GAT>TAT		interferon regulatory factor 2 binding protein							78.0	66.0	70.0					19																	46388288		2203	4300	6503	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388288C>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.745G>T	19.37:g.46388288C>A	ENSP00000307265:p.Asp249Tyr						p.D249Y	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1089	-		all_neural(266;0.113)|Ovarian(192;0.127)	249					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.745G>T	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016653	0.75161	.	.	ENSG00000170604	ENST00000302165	T	0.19669	2.13	4.3	4.3	0.51218	.	0.078542	0.48286	U	0.000193	T	0.37892	0.1020	L	0.46157	1.445	0.58432	D	0.999998	D	0.89917	1.0	D	0.68192	0.956	T	0.19582	-1.0301	10	0.87932	D	0	.	14.2851	0.66240	0.0:1.0:0.0:0.0	.	249	Q8IU81	I2BP1_HUMAN	Y	249	ENSP00000307265:D249Y	ENSP00000307265:D249Y	D	-	1	0	IRF2BP1	51080128	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.486000	0.66856	2.202000	0.70862	0.462000	0.41574	GAT		PASS	0.632	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		23	93	23	93	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50097967	50097967	+	Silent	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:50097967A>T	ENST00000418929.2	+	4	387	c.375A>T	c.(373-375)ccA>ccT	p.P125P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)	p.P125P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGCACACGCCAGGCCCCACGG	0.652																																						uc002poo.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(373-375)CCA>CCT		proline rich 12							26.0	31.0	29.0					19																	50097967		2046	4182	6228	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50097967A>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.375A>T	19.37:g.50097967A>T							p.P125P	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	375	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	539			Pro-rich.		E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.375A>T	CCDS46143.1																																																																																				PASS	0.652	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		7	21	7	21	---	---	---	---
KCNC3	3748	broad.mit.edu	37	19	50827098	50827098	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:50827098G>C	ENST00000477616.1	-	2	1406	c.1112C>G	c.(1111-1113)cCa>cGa	p.P371R	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.P371R	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	371					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.P371R(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CACCTTGTCTGGGCAGAAGGT	0.582																																					Melanoma(91;1496 2324 50908)	uc002pru.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1111-1113)CCA>CGA		Shaw-related voltage-gated potassium channel							164.0	141.0	148.0					19																	50827098		2203	4300	6503	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50827098G>C	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1112C>G	19.37:g.50827098G>C	ENSP00000434241:p.Pro371Arg					KCNC3_uc002prt.1_Missense_Mutation_p.P7R	p.P371R	NM_004977	NP_004968	Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	2	1407	-		all_neural(266;0.057)|Ovarian(192;0.208)	371			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000477616.1	37	c.1112C>G	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	g	18.83	3.707230	0.68615	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.97232	-4.3;-4.3	2.86	2.86	0.33363	Ion transport (1);	0.000000	0.64402	U	0.000002	D	0.97368	0.9139	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97540	1.0085	10	0.87932	D	0	.	12.9172	0.58213	0.0:0.0:1.0:0.0	.	371;371	Q14003;E7ETH1	KCNC3_HUMAN;.	R	371;371;185	ENSP00000366158:P371R;ENSP00000434241:P371R	ENSP00000366158:P371R	P	-	2	0	KCNC3	55518910	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.464000	0.97655	1.615000	0.50252	0.486000	0.48141	CCA		PASS	0.582	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		13	77	13	77	---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52395145	52395145	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:52395145C>G	ENST00000354957.3	-	5	528	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.E82Q	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	82					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E82Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCAGCTTTCTCAATTTCTAAG	0.413																																						uc002pxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(244-246)GAG>CAG		zinc finger protein 649							79.0	76.0	77.0					19																	52395145		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52395145C>G	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.244G>C	19.37:g.52395145C>G	ENSP00000347043:p.Glu82Gln					ZNF577_uc010ydf.1_5'Flank	p.E82Q	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	512	-		all_neural(266;0.0602)	82					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.244G>C	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	2.630	-0.286543	0.05605	.	.	ENSG00000198093	ENST00000354957	T	0.06449	3.3	2.49	-4.99	0.03010	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	P	0.35011	0.48	B	0.27887	0.084	T	0.44345	-0.9334	9	0.23891	T	0.37	.	5.1624	0.15068	0.1661:0.201:0.0:0.6329	.	82	Q9BS31	ZN649_HUMAN	Q	82	ENSP00000347043:E82Q	ENSP00000347043:E82Q	E	-	1	0	ZNF649	57086957	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	-3.732000	0.00380	-1.383000	0.02106	0.404000	0.27445	GAG		PASS	0.413	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		17	112	17	112	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52627196	52627196	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:52627196T>C	ENST00000600228.1	-	3	380	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	ZNF616_ENST00000330123.5_Missense_Mutation_p.Y40C|ZNF616_ENST00000596290.1_Missense_Mutation_p.Y40C|ZNF616_ENST00000597013.1_Missense_Mutation_p.Y40C	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	40	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.Y40C(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CAGGTTCCTATAGTTCTCCAA	0.433																																						uc002pym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)TAT>TGT		zinc finger protein 616							111.0	110.0	110.0					19																	52627196		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52627196T>C	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.119A>G	19.37:g.52627196T>C	ENSP00000471000:p.Tyr40Cys					ZNF616_uc002pyn.2_RNA	p.Y40C	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	3	402	-			40			KRAB.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.119A>G	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.253767	0.22965	.	.	ENSG00000204611	ENST00000330123	T	0.02525	4.26	1.33	-1.15	0.09709	Krueppel-associated box (4);	.	.	.	.	T	0.10423	0.0255	M	0.84683	2.71	0.22468	N	0.999077	D	0.62365	0.991	P	0.62813	0.907	T	0.14309	-1.0477	9	0.87932	D	0	.	2.1532	0.03805	0.2649:0.3746:0.0:0.3606	.	40	Q08AN1	ZN616_HUMAN	C	40	ENSP00000328722:Y40C	ENSP00000328722:Y40C	Y	-	2	0	ZNF616	57319008	0.002000	0.14202	0.350000	0.25708	0.801000	0.45260	-0.258000	0.08733	-0.481000	0.06792	0.260000	0.18958	TAT		PASS	0.433	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		24	127	24	127	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53269954	53269954	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:53269954T>A	ENST00000338230.3	-	3	1322	c.1055A>T	c.(1054-1056)cAc>cTc	p.H352L		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	352					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.H352L(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CTCTCCAGTGTGAATTCTTTT	0.398																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1054-1056)CAC>CTC		zinc finger protein 600							100.0	99.0	99.0					19																	53269954		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269954T>A	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1055A>T	19.37:g.53269954T>A	ENSP00000344791:p.His352Leu						p.H352L	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1341	-			352			C2H2-type 7.		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.1055A>T	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	13.51	2.257798	0.39896	.	.	ENSG00000189190	ENST00000338230	T	0.67345	-0.26	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84506	0.5487	H	0.96633	3.855	0.34134	D	0.665616	D	0.55172	0.97	D	0.66351	0.943	D	0.87069	0.2158	9	0.87932	D	0	.	8.0251	0.30431	0.0:0.0:0.0:1.0	.	352	Q6ZNG1	ZN600_HUMAN	L	352	ENSP00000344791:H352L	ENSP00000344791:H352L	H	-	2	0	ZNF600	57961766	1.000000	0.71417	0.488000	0.27440	0.288000	0.27193	6.244000	0.72391	0.734000	0.32515	0.254000	0.18369	CAC		PASS	0.398	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		34	200	34	200	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53669219	53669219	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:53669219C>T	ENST00000600412.1	-	2	444	c.329G>A	c.(328-330)gGa>gAa	p.G110E	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.G175E			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	110					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.G110E(1)|p.G175E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATAATGTTTTCCTCGATTATT	0.383																																						uc010eqm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(523-525)GGA>GAA		zinc finger protein 665							126.0	136.0	133.0					19																	53669219		2153	4282	6435	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669219C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.329G>A	19.37:g.53669219C>T	ENSP00000469154:p.Gly110Glu						p.G175E	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	624	-			110					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.524G>A		.	.	.	.	.	.	.	.	.	.	C	0.005	-2.236078	0.00277	.	.	ENSG00000197497	ENST00000396424	T	0.07114	3.22	1.45	-2.9	0.05648	.	.	.	.	.	T	0.01222	0.0040	N	0.00185	-1.9	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40979	-0.9534	9	0.02654	T	1	.	2.4943	0.04618	0.3857:0.2006:0.0:0.4136	.	175	Q9H7R5-2	.	E	175	ENSP00000379702:G175E	ENSP00000379702:G175E	G	-	2	0	ZNF665	58361031	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.187000	0.09656	-0.688000	0.05155	-0.300000	0.09419	GGA		PASS	0.383	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		42	242	42	242	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54782843	54782843	+	Missense_Mutation	SNP	C	C	T	rs373672504		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:54782843C>T	ENST00000391749.4	-	6	1050	c.779G>A	c.(778-780)gGg>gAg	p.G260E	LILRB2_ENST00000391748.1_Missense_Mutation_p.G260E|LILRB2_ENST00000391746.1_Missense_Mutation_p.G260E|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Missense_Mutation_p.G144E|LILRB2_ENST00000314446.5_Missense_Mutation_p.G260E	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	260	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.G260E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCACGTTCCCCCTCCTTGTA	0.652																																						uc002qfb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(778-780)GGG>GAG		leukocyte immunoglobulin-like receptor,							90.0	90.0	90.0					19																	54782843		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782843C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.779G>A	19.37:g.54782843C>T	ENSP00000375629:p.Gly260Glu					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.G260E|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.G260E|LILRB2_uc010yet.1_Missense_Mutation_p.G144E|LILRB2_uc010yeu.1_RNA	p.G260E	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1045	-	Ovarian(34;0.19)		260			Extracellular (Potential).|Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.779G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032429	0.35893	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.01172	5.23;5.23;5.23;5.23;5.23	2.6	-1.08	0.09936	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.503717	0.16712	N	0.202612	T	0.04363	0.0120	M	0.86097	2.795	0.09310	N	1	P;P;D	0.60575	0.954;0.954;0.988	P;P;D	0.67548	0.904;0.904;0.952	T	0.26292	-1.0107	10	0.52906	T	0.07	.	2.7475	0.05271	0.0:0.4222:0.2549:0.3229	.	260;277;260	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	E	260;260;260;260;144	ENSP00000375628:G260E;ENSP00000319960:G260E;ENSP00000375629:G260E;ENSP00000375626:G260E;ENSP00000410117:G144E	ENSP00000319960:G260E	G	-	2	0	LILRB2	59474655	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.376000	0.07465	-0.015000	0.14150	0.449000	0.29647	GGG		PASS	0.652	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			24	94	24	94	---	---	---	---
KIR2DL3	3804	broad.mit.edu	37	19	55253692	55253692	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:55253692G>A	ENST00000342376.3	+	3	368	c.337G>A	c.(337-339)Gct>Act	p.A113T	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A113T	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	113					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.A113T(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCAGTTGTCAGCTCCCAGTGA	0.532																																						uc002qgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(337-339)GCT>ACT		killer cell immunoglobulin-like receptor, two							28.0	26.0	26.0					19																	55253692		1792	3633	5425	SO:0001583	missense	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55253692G>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.337G>A	19.37:g.55253692G>A	ENSP00000342215:p.Ala113Thr					KIR2DL3_uc002qgx.2_Missense_Mutation_p.A113T|KIR2DL3_uc002qgy.2_Missense_Mutation_p.A113T|KIR2DL3_uc010erw.1_Missense_Mutation_p.A113T|KIR2DL1_uc002qgz.1_Missense_Mutation_p.A23T|KIR2DL3_uc002qha.1_RNA	p.A113T	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	355	+			113			Extracellular (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.337G>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	g	9.082	0.999655	0.19121	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.00792	5.69;5.69	1.6	0.45	0.16624	Immunoglobulin-like fold (2);	.	.	.	.	T	0.01254	0.0041	M	0.73430	2.235	0.09310	N	1	B;P;B;B;B	0.34462	0.046;0.454;0.126;0.389;0.389	B;B;B;B;B	0.33254	0.016;0.031;0.16;0.05;0.05	T	0.39502	-0.9611	9	0.87932	D	0	.	5.7308	0.18038	0.0:0.3427:0.6573:0.0	.	113;113;113;113;113	E3NZD7;P43627;P43628-2;P43628;E3NZD8	.;KI2L2_HUMAN;.;KI2L3_HUMAN;.	T	113	ENSP00000342215:A113T;ENSP00000415758:A113T	ENSP00000342215:A113T	A	+	1	0	KIR2DL3	59945504	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	-0.171000	0.09883	0.224000	0.20940	0.184000	0.17185	GCT		PASS	0.532	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			39	377	39	377	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56223865	56223865	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:56223865G>C	ENST00000332836.2	-	7	2620	c.2593C>G	c.(2593-2595)Cat>Gat	p.H865D	CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	865						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.H865D(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATTTCATTATGCCCAAGTTTC	0.458																																						uc002qly.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|breast(1)	7						c.(2593-2595)CAT>GAT		NLR family, pyrin domain containing 9							100.0	94.0	96.0					19																	56223865		2199	4293	6492	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56223865G>C	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2593C>G	19.37:g.56223865G>C	ENSP00000331857:p.His865Asp						p.H865D	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	7	2621	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	865			LRR 5.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.2593C>G	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	1.076	-0.668518	0.03403	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.40225	1.04	4.0	-8.0	0.01126	.	.	.	.	.	T	0.20129	0.0484	N	0.16166	0.38	0.09310	N	1	B	0.22211	0.066	B	0.32393	0.145	T	0.31052	-0.9957	9	0.36615	T	0.2	.	2.4172	0.04439	0.2093:0.3249:0.3343:0.1315	.	865	Q7RTR0	NALP9_HUMAN	D	865	ENSP00000331857:H865D	ENSP00000331857:H865D	H	-	1	0	NLRP9	60915677	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.944000	0.00681	-2.131000	0.00815	-1.160000	0.01791	CAT		PASS	0.458	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		11	94	11	94	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56487670	56487670	+	Splice_Site	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:56487670G>C	ENST00000291971.3	+	8	2947		c.e8+1		NLRP8_ENST00000590542.1_Splice_Site	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8						neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.?(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGATCCTGGAGTAAGTGGCCC	0.453																																						uc002qmh.2																			1	Unknown(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.e8+1		NLR family, pyrin domain containing 8							114.0	111.0	112.0					19																	56487670		2203	4300	6503	SO:0001630	splice_region_variant	126205					cytoplasm	ATP binding	g.chr19:56487670G>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2876+1G>C	19.37:g.56487670G>C						NLRP8_uc010etg.2_Splice_Site_p.E940_splice	p.E959_splice	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	8	2947	+		Colorectal(82;0.000147)|Ovarian(87;0.17)						Q7RTR4	Splice_Site	SNP	ENST00000291971.3	37	c.2876_splice	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281281	0.23392	.	.	ENSG00000179709	ENST00000291971	.	.	.	2.67	2.67	0.31697	.	.	.	.	.	.	.	.	.	.	.	0.40315	D	0.978767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9897	0.36017	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP8	61179482	0.998000	0.40836	0.042000	0.18584	0.231000	0.25187	5.320000	0.65841	1.827000	0.53221	0.514000	0.50259	.		PASS	0.453	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	Intron	14	81	14	81	---	---	---	---
ZNF471	57573	broad.mit.edu	37	19	57036767	57036767	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr19:57036767C>T	ENST00000308031.5	+	5	1464	c.1331C>T	c.(1330-1332)gCa>gTa	p.A444V	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	444					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.A444V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGCCATCATGCATCACTCACT	0.418																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1330-1332)GCA>GTA		zinc finger protein 471							96.0	94.0	94.0					19																	57036767		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036767C>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1331C>T	19.37:g.57036767C>T	ENSP00000309161:p.Ala444Val						p.A444V	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1464	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	444			C2H2-type 9.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1331C>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	7.314	0.615532	0.14129	.	.	ENSG00000196263	ENST00000308031	T	0.08008	3.14	3.66	-0.474	0.12108	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	P	0.37663	0.604	B	0.17722	0.019	T	0.38200	-0.9672	9	0.54805	T	0.06	.	0.6038	0.00749	0.2887:0.3603:0.1549:0.1961	.	444	Q9BX82	ZN471_HUMAN	V	444	ENSP00000309161:A444V	ENSP00000309161:A444V	A	+	2	0	ZNF471	61728579	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-1.255000	0.02872	-0.297000	0.08934	-0.502000	0.04539	GCA		PASS	0.418	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		8	160	8	160	---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2638797	2638797	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:2638797G>C	ENST00000329276.5	+	12	2158	c.1642G>C	c.(1642-1644)Gag>Cag	p.E548Q	IDH3B_ENST00000488299.1_5'Flank|SNORD86_ENST00000391196.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORD56_ENST00000413522.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD57_ENST00000448188.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	548	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.E548Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TAATGACCCTGAGGAGGCAGG	0.537																																						uc002wgh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1642-1644)GAG>CAG		nucleolar protein 5A							23.0	24.0	24.0					20																	2638797		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2638797G>C	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1642G>C	20.37:g.2638797G>C	ENSP00000370589:p.Glu548Gln					NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.E382Q|NOP56_uc002wgm.1_3'UTR	p.E548Q	NM_006392	NP_006383	O00567	NOP56_HUMAN			12	1695	+			548			Lys-rich.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.1642G>C	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043815	0.36085	.	.	ENSG00000101361	ENST00000329276	T	0.40225	1.04	5.71	4.74	0.60224	.	0.472859	0.23526	N	0.047233	T	0.29684	0.0741	N	0.19112	0.55	0.27833	N	0.941395	B	0.02656	0.0	B	0.06405	0.002	T	0.23297	-1.0192	10	0.59425	D	0.04	-5.1885	12.5779	0.56373	0.0:0.1669:0.8331:0.0	.	548	O00567	NOP56_HUMAN	Q	548	ENSP00000370589:E548Q	ENSP00000370589:E548Q	E	+	1	0	NOP56	2586797	0.997000	0.39634	0.771000	0.31576	0.022000	0.10575	3.239000	0.51360	1.383000	0.46405	0.644000	0.83932	GAG		PASS	0.537	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		9	22	9	22	---	---	---	---
SLC4A11	83959	broad.mit.edu	37	20	3218260	3218260	+	Silent	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:3218260A>G	ENST00000380056.3	-	1	113	c.66T>C	c.(64-66)gcT>gcC	p.A22A	SLC4A11_ENST00000380059.3_Intron|SLC4A11_ENST00000539553.2_Intron	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	22					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.A22A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AAAGGTCACCAGCCCCATGGA	0.592																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(64-66)GCT>GCC		solute carrier family 4 member 11							214.0	172.0	186.0					20																	3218260		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3218260A>G	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.66T>C	20.37:g.3218260A>G						SLC4A11_uc010zqe.1_Intron|SLC4A11_uc002wih.2_Intron|SLC4A11_uc010zqf.1_Intron	p.A22A	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			1	114	-			22			Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.66T>C	CCDS13052.1																																																																																				PASS	0.592	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			37	177	37	177	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10639146	10639146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:10639146C>A	ENST00000254958.5	-	4	1179	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	JAG1_ENST00000423891.2_Nonsense_Mutation_p.E63*	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	222	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.E222*(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATCCAGCCTTCCATGCAAGTT	0.498									Alagille Syndrome																													uc002wnw.2																			2	Substitution - Nonsense(2)		lung(2)	lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(664-666)GAA>TAA		jagged 1 precursor							119.0	115.0	116.0					20																	10639146		2203	4300	6503	SO:0001587	stop_gained	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10639146C>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.664G>T	20.37:g.10639146C>A	ENSP00000254958:p.Glu222*						p.E222*	NM_000214	NP_000205	P78504	JAG1_HUMAN			4	1180	-			222			Extracellular (Potential).|DSL.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Nonsense_Mutation	SNP	ENST00000254958.5	37	c.664G>T	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	41	8.972518	0.99021	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.5701	0.95409	0.0:1.0:0.0:0.0	.	.	.	.	X	222;63	.	ENSP00000254958:E222X	E	-	1	0	JAG1	10587146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.629000	0.89072	0.563000	0.77884	GAA		PASS	0.498	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		48	184	48	184	---	---	---	---
DZANK1	55184	broad.mit.edu	37	20	18379240	18379240	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:18379240G>C	ENST00000358866.6	-	13	1485	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	DZANK1_ENST00000329494.5_Missense_Mutation_p.S490C|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000357236.4_Missense_Mutation_p.S374C|DZANK1_ENST00000262547.5_Missense_Mutation_p.S488C			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	488							zinc ion binding (GO:0008270)	p.S488C(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GAGGTGAGCAGAGATGTGATC	0.478																																						uc010zsa.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1519-1521)TCT>TGT		hypothetical protein LOC55184							159.0	156.0	157.0					20																	18379240		1947	4145	6092	SO:0001583	missense	55184					intracellular	zinc ion binding	g.chr20:18379240G>C	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1463C>G	20.37:g.18379240G>C	ENSP00000351734:p.Ser488Cys					C20orf12_uc010zrz.1_Missense_Mutation_p.S26C|C20orf12_uc002wqp.3_Missense_Mutation_p.S198C|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.S374C|C20orf12_uc002wqq.3_Missense_Mutation_p.S488C	p.S507C	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			14	1729	-		Myeloproliferative disorder(85;0.0122)	315					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.1520C>G	CCDS46582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.506|5.506	0.278292|0.278292	0.10403|0.10403	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000358866|ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	.|T;T;T;T	.|0.59906	.|0.38;0.23;0.93;0.35	5.39|5.39	3.32|3.32	0.38043|0.38043	.|.	.|0.090297	.|0.85682	.|D	.|0.000000	T|T	0.34571|0.34571	0.0902|0.0902	N|N	0.26130|0.26130	0.795|0.795	0.30731|0.30731	N|N	0.747171|0.747171	.|B;B;B;B	.|0.16802	.|0.019;0.012;0.003;0.001	.|B;B;B;B	.|0.11329	.|0.005;0.006;0.003;0.001	T|T	0.28554|0.28554	-1.0040|-1.0040	5|10	.|0.02654	.|T	.|1	-14.9202|-14.9202	7.9859|7.9859	0.30212|0.30212	0.0929:0.3409:0.5662:0.0|0.0929:0.3409:0.5662:0.0	.|.	.|507;374;488;273	.|B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.|.;.;DZAN1_HUMAN;.	V|C	287|321;488;490;320;273;374	.|ENSP00000366857:S321C;ENSP00000262547:S488C;ENSP00000328866:S490C;ENSP00000349774:S374C	.|ENSP00000262547:S488C	L|S	-|-	1|2	2|0	C20orf12|C20orf12	18327240|18327240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.466000|3.466000	0.53071|0.53071	2.679000|2.679000	0.91253|0.91253	0.655000|0.655000	0.94253|0.94253	CTG|TCT		PASS	0.478	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		46	185	46	185	---	---	---	---
BPIFB6	128859	broad.mit.edu	37	20	31622639	31622639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:31622639G>T	ENST00000349552.1	+	4	373	c.373G>T	c.(373-375)Gag>Tag	p.E125*		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	125						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.E125*(1)									TCTGCGGGATGAGGAGACAGG	0.592																																						uc010zuc.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(373-375)GAG>TAG		bactericidal/permeability-increasing							92.0	68.0	76.0					20																	31622639		2203	4300	6503	SO:0001587	stop_gained	128859					extracellular region	lipid binding	g.chr20:31622639G>T	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.373G>T	20.37:g.31622639G>T	ENSP00000344929:p.Glu125*					BPIL3_uc010zud.1_Nonsense_Mutation_p.E64*	p.E125*	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			4	373	+			125						Nonsense_Mutation	SNP	ENST00000349552.1	37	c.373G>T	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975238	0.53720	.	.	ENSG00000167104	ENST00000349552	.	.	.	4.21	2.14	0.27477	.	0.275182	0.25875	N	0.027740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-17.6442	5.1318	0.14915	0.118:0.2168:0.6651:0.0	.	.	.	.	X	125	.	ENSP00000344929:E125X	E	+	1	0	BPIFB6	31086300	0.947000	0.32204	0.996000	0.52242	0.356000	0.29392	1.382000	0.34374	0.840000	0.34995	0.511000	0.50034	GAG		PASS	0.592	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		20	114	20	114	---	---	---	---
BPIFA1	51297	broad.mit.edu	37	20	31825567	31825567	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:31825567C>A	ENST00000354297.4	+	2	121	c.50C>A	c.(49-51)aCc>aAc	p.T17N	BPIFA1_ENST00000375422.2_Missense_Mutation_p.T17N|BPIFA1_ENST00000375413.4_Missense_Mutation_p.T17N	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	17					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.T17N(1)									TTAGCCCAGACCATGGCCCAG	0.562																																						uc002wyv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)ACC>AAC		palate, lung and nasal epithelium associated							84.0	81.0	82.0					20																	31825567		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825567C>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.50C>A	20.37:g.31825567C>A	ENSP00000346251:p.Thr17Asn					PLUNC_uc002wyt.3_Missense_Mutation_p.T17N|PLUNC_uc002wyu.3_Missense_Mutation_p.T17N	p.T17N	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			2	120	+			17					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.50C>A	CCDS13217.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.74|12.74	2.029572|2.029572	0.35797|0.35797	.|.	.|.	ENSG00000198183|ENSG00000198183	ENST00000544328|ENST00000375422;ENST00000354297;ENST00000375413	.|T;T;T	.|0.14144	.|2.53;2.53;2.53	5.14|5.14	1.92|1.92	0.25849|0.25849	.|.	.|0.741491	.|0.12755	.|N	.|0.441865	.|T	.|0.14356	.|0.0347	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|B	.|0.26512	.|0.151	.|B	.|0.26416	.|0.069	.|T	.|0.17806	.|-1.0357	.|10	.|0.41790	.|T	.|0.15	.|-4.6276	7.0239|7.0239	0.24930|0.24930	0.0:0.557:0.3505:0.0925|0.0:0.557:0.3505:0.0925	.|.	.|17	.|Q9NP55	.|BPIA1_HUMAN	.|N	-1|17	.|ENSP00000364571:T17N;ENSP00000346251:T17N;ENSP00000364562:T17N	.|ENSP00000346251:T17N	.|T	+|+	.|2	.|0	BPIFA1|BPIFA1	31289228|31289228	0.124000|0.124000	0.22315|0.22315	0.005000|0.005000	0.12908|0.12908	0.113000|0.113000	0.19764|0.19764	0.362000|0.362000	0.20284|0.20284	0.846000|0.846000	0.35142|0.35142	-0.123000|-0.123000	0.14984|0.14984	.|ACC		PASS	0.562	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		14	107	14	107	---	---	---	---
LBP	3929	broad.mit.edu	37	20	36975032	36975032	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:36975032G>C	ENST00000217407.2	+	1	274	c.113G>C	c.(112-114)gGa>gCa	p.G38A		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	38					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.G38A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACCGACAAGGGACTGCAGTAT	0.622																																						uc002xic.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(112-114)GGA>GCA		lipopolysaccharide-binding protein precursor							59.0	54.0	55.0					20																	36975032		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36975032G>C		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.113G>C	20.37:g.36975032G>C	ENSP00000217407:p.Gly38Ala						p.G38A	NM_004139	NP_004130	P18428	LBP_HUMAN			1	148	+		Myeloproliferative disorder(115;0.00878)	38					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.113G>C	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276389	0.40294	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.04317	3.65	4.53	4.53	0.55603	Lipid-binding serum glycoprotein, conserved site (1);Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.085657	0.48286	D	0.000184	T	0.24236	0.0587	M	0.88450	2.955	0.37023	D	0.896328	D	0.89917	1.0	D	0.91635	0.999	T	0.13575	-1.0504	10	0.36615	T	0.2	-26.6383	13.475	0.61303	0.0:0.0:1.0:0.0	.	38	P18428	LBP_HUMAN	A	38	ENSP00000217407:G38A	ENSP00000217407:G38A	G	+	2	0	LBP	36408446	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.610000	0.61155	2.444000	0.82710	0.561000	0.74099	GGA		PASS	0.622	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		8	60	8	60	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40730766	40730766	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:40730766C>G	ENST00000373187.1	-	26	3711	c.3712G>C	c.(3712-3714)Gat>Cat	p.D1238H	PTPRT_ENST00000373198.4_Missense_Mutation_p.D1257H|PTPRT_ENST00000373201.1_Missense_Mutation_p.D1228H|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1247H|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1248H|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1241H|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1237H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1238	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.D1260H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGGCTTACATCCATCAGTGCT	0.557																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(3712-3714)GAT>CAT		protein tyrosine phosphatase, receptor type, T							68.0	67.0	68.0					20																	40730766		2081	4233	6314	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40730766C>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3712G>C	20.37:g.40730766C>G	ENSP00000362283:p.Asp1238His					PTPRT_uc010ggj.2_Missense_Mutation_p.D1257H|PTPRT_uc010ggi.2_Missense_Mutation_p.D441H	p.D1238H	NM_007050	NP_008981	O14522	PTPRT_HUMAN			26	3896	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1238			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3712G>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858812	0.91433	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55560	-0.8122	10	0.87932	D	0	.	19.354	0.94404	0.0:1.0:0.0:0.0	.	1260;1238	O14522-1;O14522	.;PTPRT_HUMAN	H	1237;1238;1241;1247;1260;1248;1228	ENSP00000362286:D1237H;ENSP00000362283:D1238H;ENSP00000362289:D1241H;ENSP00000348408:D1247H;ENSP00000362294:D1260H;ENSP00000362280:D1248H;ENSP00000362297:D1228H	ENSP00000348408:D1247H	D	-	1	0	PTPRT	40164180	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.818000	0.86416	2.588000	0.87417	0.650000	0.86243	GAT		PASS	0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			11	88	11	88	---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56735872	56735872	+	Silent	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:56735872G>C	ENST00000371168.3	+	4	469	c.408G>C	c.(406-408)gtG>gtC	p.V136V		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	136								p.V136V(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGCAGGGCGTGCACTGAATCC	0.607																																						uc002xyv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(406-408)GTG>GTC		hypothetical protein LOC128602							53.0	43.0	46.0					20																	56735872		2203	4300	6503	SO:0001819	synonymous_variant	128602							g.chr20:56735872G>C	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.408G>C	20.37:g.56735872G>C							p.V136V	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		4	446	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		136						Silent	SNP	ENST00000371168.3	37	c.408G>C	CCDS13465.1																																																																																				PASS	0.607	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		8	45	8	45	---	---	---	---
C20orf166-AS1	253868	broad.mit.edu	37	20	61143530	61143530	+	RNA	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr20:61143530G>T	ENST00000475015.1	-	0	808				C20orf166-AS1_ENST00000412495.1_RNA|C20orf166-AS1_ENST00000436101.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1									p.P106P(1)									TGGCCCTGCCGGGGCGTGTGT	0.647																																						uc002ycz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(316-318)CCC>CCA		hypothetical protein LOC253868							37.0	36.0	37.0					20																	61143530		2203	4299	6502			253868							g.chr20:61143530G>T	AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143530G>T						C20orf200_uc002ycy.2_RNA	p.P106P	NM_152757	NP_689970			BRCA - Breast invasive adenocarcinoma(19;7.17e-06)		3	809	-	Breast(26;2.05e-08)							Q52LN1	Silent	SNP	ENST00000475015.1	37	c.318C>A																																																																																					PASS	0.647	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263		16	46	16	46	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22881368	22881368	+	Silent	SNP	T	T	A	rs267606086		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr21:22881368T>A	ENST00000400546.1	+	16	2523	c.2274T>A	c.(2272-2274)gcT>gcA	p.A758A	NCAM2_ENST00000284894.7_Silent_p.A616A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	758					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A758A(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGGAAAAGCTGCATACCTGT	0.453																																						uc002yld.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2272-2274)GCT>GCA		neural cell adhesion molecule 2 precursor							82.0	79.0	80.0					21																	22881368		1948	4145	6093	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22881368T>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2274T>A	21.37:g.22881368T>A						NCAM2_uc011acb.1_Silent_p.A616A	p.A758A	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	16	2523	+		Lung NSC(9;0.195)	758			Cytoplasmic (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.2274T>A	CCDS42910.1																																																																																				PASS	0.453	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		13	87	13	87	---	---	---	---
HLCS	3141	broad.mit.edu	37	21	38309503	38309503	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr21:38309503G>C	ENST00000399120.1	-	5	1472	c.242C>G	c.(241-243)tCt>tGt	p.S81C	HLCS_ENST00000336648.4_Missense_Mutation_p.S81C	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	81					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.S81C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTCACTCCCAGAGGCACTGCC	0.547																																						uc010gnb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(241-243)TCT>TGT		holocarboxylase synthetase	Biotin(DB00121)						83.0	72.0	76.0					21																	38309503		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38309503G>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.242C>G	21.37:g.38309503G>C	ENSP00000382071:p.Ser81Cys					HLCS_uc002yvs.2_Missense_Mutation_p.S81C|HLCS_uc010gnc.1_Missense_Mutation_p.S228C	p.S81C	NM_000411	NP_000402	P50747	BPL1_HUMAN			4	1443	-		Myeloproliferative disorder(46;0.0422)	81					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.242C>G	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335353	0.60853	.	.	ENSG00000159267	ENST00000399120;ENST00000336648;ENST00000448340;ENST00000419461	D;D	0.98264	-4.83;-4.83	5.42	3.56	0.40772	.	1.004370	0.08007	N	0.989713	D	0.97263	0.9105	L	0.46157	1.445	0.09310	N	1	D;D	0.63880	0.993;0.985	P;P	0.49999	0.628;0.533	D	0.91420	0.5158	10	0.72032	D	0.01	.	8.8147	0.34989	0.0:0.1645:0.6645:0.1709	.	81;81	B2RAH1;P50747	.;BPL1_HUMAN	C	81	ENSP00000382071:S81C;ENSP00000338387:S81C	ENSP00000338387:S81C	S	-	2	0	HLCS	37231373	0.000000	0.05858	0.001000	0.08648	0.997000	0.91878	0.438000	0.21559	0.624000	0.30286	0.655000	0.94253	TCT		PASS	0.547	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			10	110	10	110	---	---	---	---
RGL4	266747	broad.mit.edu	37	22	24034931	24034931	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:24034931T>C	ENST00000290691.5	+	3	1619	c.449T>C	c.(448-450)cTg>cCg	p.L150P	AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.L14P|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	150	Pro-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L150P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTGGCGGACCTGGGGCCTGCT	0.627																																						uc002zxn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)CTG>CCG		ral guanine nucleotide dissociation							38.0	43.0	41.0					22																	24034931		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034931T>C		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.449T>C	22.37:g.24034931T>C	ENSP00000290691:p.Leu150Pro					LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.L150P|RGL4_uc002zxp.1_Missense_Mutation_p.L14P|RGL4_uc002zxq.2_Missense_Mutation_p.L14P	p.L150P	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			3	1619	+			150			Pro-rich.		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.449T>C	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	t	9.947	1.218961	0.22373	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.45276	1.25;0.9;0.9	1.79	-3.58	0.04597	.	4.260460	0.01951	N	0.042635	T	0.45617	0.1351	L	0.29908	0.895	0.09310	N	1	B;B;D;D	0.76494	0.002;0.002;0.998;0.999	B;B;D;D	0.68765	0.001;0.001;0.928;0.96	T	0.41502	-0.9505	10	0.33141	T	0.24	.	3.7429	0.08537	0.2191:0.4998:0.0:0.2811	.	14;14;150;150	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	P	14;150;150;150	ENSP00000383951:L14P;ENSP00000290691:L150P;ENSP00000402142:L150P	ENSP00000290691:L150P	L	+	2	0	RGL4	22364931	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.677000	0.05215	-1.211000	0.02624	0.172000	0.16884	CTG		PASS	0.627	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		19	95	19	95	---	---	---	---
ASPHD2	57168	broad.mit.edu	37	22	26829924	26829924	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:26829924C>T	ENST00000215906.5	+	2	781	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	115					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R89C(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TGAGTGCGTGCGCTGCACCCA	0.642																																						uc003acg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(343-345)CGC>TGC		aspartate beta-hydroxylase domain containing 2							56.0	47.0	50.0					22																	26829924		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26829924C>T	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.343C>T	22.37:g.26829924C>T	ENSP00000215906:p.Arg115Cys						p.R115C	NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN			2	740	+			115			Lumenal (Potential).		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.343C>T	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431397	0.83776	.	.	ENSG00000128203	ENST00000215906	T	0.51574	0.7	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67389	-0.5683	10	0.87932	D	0	-38.4441	16.4208	0.83758	0.0:1.0:0.0:0.0	.	115	Q6ICH7	ASPH2_HUMAN	C	115	ENSP00000215906:R115C	ENSP00000215906:R115C	R	+	1	0	ASPHD2	25159924	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.934000	0.75880	2.334000	0.79466	0.563000	0.77884	CGC		PASS	0.642	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		8	44	8	44	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29884889	29884889	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:29884889C>T	ENST00000310624.6	+	4	1293	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	420	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.F420F(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAATTCCTTTCTCGCTTCCAG	0.453																																						uc003afo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1258-1260)TTC>TTT		neurofilament, heavy polypeptide 200kDa							82.0	85.0	84.0					22																	29884889		2203	4300	6503	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29884889C>T		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1260C>T	22.37:g.29884889C>T						NEFH_uc003afp.2_5'Flank	p.F420F	NM_021076	NP_066554	P12036	NFH_HUMAN			4	1331	+			420			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.1260C>T	CCDS13858.1																																																																																				PASS	0.453	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		31	134	31	134	---	---	---	---
LIMK2	3985	broad.mit.edu	37	22	31661978	31661978	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:31661978G>C	ENST00000331728.4	+	8	1015	c.901G>C	c.(901-903)Gag>Cag	p.E301Q	LIMK2_ENST00000340552.4_Missense_Mutation_p.E280Q|LIMK2_ENST00000333611.4_Missense_Mutation_p.E280Q|LIMK2_ENST00000444929.2_Missense_Mutation_p.E55Q|LIMK2_ENST00000406516.1_Missense_Mutation_p.E223Q	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	301					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.E301Q(1)|p.E280Q(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTCCCCAAAGGAGCCCCTGCT	0.567																																						uc003akh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(901-903)GAG>CAG		LIM domain kinase 2 isoform 2a							79.0	80.0	79.0					22																	31661978		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31661978G>C	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.901G>C	22.37:g.31661978G>C	ENSP00000332687:p.Glu301Gln					LIMK2_uc003akg.2_Missense_Mutation_p.E218Q|LIMK2_uc003aki.2_Missense_Mutation_p.E55Q|LIMK2_uc003akj.2_Missense_Mutation_p.E280Q|LIMK2_uc003akk.2_Missense_Mutation_p.E280Q|LIMK2_uc011aln.1_Missense_Mutation_p.E218Q	p.E301Q	NM_005569	NP_005560	P53671	LIMK2_HUMAN			8	1046	+			301					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.901G>C	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469076	0.63625	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T;T	0.74421	-0.84;-0.82;-0.69;-0.74;-0.82	5.15	5.15	0.70609	.	0.048909	0.85682	D	0.000000	T	0.74275	0.3695	L	0.60455	1.87	0.43750	D	0.996255	P;P;P;P;D	0.53151	0.713;0.804;0.596;0.59;0.958	P;B;B;B;B	0.46339	0.513;0.315;0.142;0.315;0.419	T	0.71437	-0.4593	10	0.18710	T	0.47	-26.6408	17.9904	0.89166	0.0:0.0:1.0:0.0	.	333;280;55;301;223	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	Q	223;55;301;333;280;280	ENSP00000384602:E223Q;ENSP00000409522:E55Q;ENSP00000332687:E301Q;ENSP00000330470:E280Q;ENSP00000339916:E280Q	ENSP00000332687:E301Q	E	+	1	0	LIMK2	29991978	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.286000	0.72665	2.562000	0.86427	0.467000	0.42956	GAG		PASS	0.567	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		13	95	13	95	---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35799254	35799254	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:35799254G>A	ENST00000216122.4	+	3	376	c.222G>A	c.(220-222)atG>atA	p.M74I	MCM5_ENST00000382011.5_Missense_Mutation_p.M74I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	74					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.M74I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGGTGGAGATGGAGGATCTGG	0.587																																						uc003anu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)ATG>ATA		minichromosome maintenance complex component 5							101.0	99.0	99.0					22																	35799254		2203	4300	6503	SO:0001583	missense	4174				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|DNA binding|helicase activity|protein binding	g.chr22:35799254G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.222G>A	22.37:g.35799254G>A	ENSP00000216122:p.Met74Ile					MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.M74I	p.M74I	NM_006739	NP_006730	P33992	MCM5_HUMAN			3	316	+			74					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.222G>A	CCDS13915.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.051031|3.051031	0.55218|0.55218	.|.	.|.	ENSG00000100297|ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905|ENST00000444582	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Nucleic acid-binding, OB-fold-like (1);|.	0.086212|.	0.85682|.	D|.	0.000000|.	T|.	0.46054|.	0.1373|.	N|N	0.10664|0.10664	0.02|0.02	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.06405|.	0.002;0.002|.	T|.	0.42982|.	-0.9419|.	10|.	0.10902|0.20519	T|T	0.67|0.43	-28.7041|-28.7041	18.2891|18.2891	0.90123|0.90123	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	74;74|.	B1AHB1;P33992|.	.;MCM5_HUMAN|.	I|X	74;74;106|18	ENSP00000216122:M74I;ENSP00000371441:M74I;ENSP00000393977:M106I|.	ENSP00000216122:M74I|ENSP00000397217:W18X	M|W	+|+	3|2	0|0	MCM5|MCM5	34129254|34129254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.683000|7.683000	0.84093|0.84093	2.312000|2.312000	0.78011|0.78011	0.561000|0.561000	0.74099|0.74099	ATG|TGG		PASS	0.587	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			9	84	9	84	---	---	---	---
ACO2	50	broad.mit.edu	37	22	41918985	41918985	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:41918985C>A	ENST00000216254.4	+	10	1312	c.1290C>A	c.(1288-1290)gaC>gaA	p.D430E	ACO2_ENST00000396512.3_Missense_Mutation_p.D455E	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	430					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.D430E(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TTGAGCGGGACGGCTATGTGA	0.642																																						uc003bac.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(1288-1290)GAC>GAA		aconitase 2, mitochondrial precursor							109.0	93.0	98.0					22																	41918985		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41918985C>A	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1290C>A	22.37:g.41918985C>A	ENSP00000216254:p.Asp430Glu					ACO2_uc003bad.2_Missense_Mutation_p.D455E	p.D430E	NM_001098	NP_001089	Q99798	ACON_HUMAN			10	1312	+			430					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.1290C>A	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440440	0.83993	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.40476	1.03;1.03	5.93	-8.97	0.00758	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	M	0.81341	2.54	0.54753	D	0.999982	D;D	0.65815	0.995;0.971	D;D	0.70716	0.97;0.95	T	0.75869	-0.3165	10	0.87932	D	0	.	16.7923	0.85592	0.0:0.3314:0.0:0.6686	.	455;430	A2A274;Q99798	.;ACON_HUMAN	E	151;411;430;455	ENSP00000216254:D430E;ENSP00000379769:D455E	ENSP00000216254:D430E	D	+	3	2	ACO2	40248931	0.000000	0.05858	0.768000	0.31515	0.791000	0.44710	-3.720000	0.00384	-1.422000	0.02004	-0.768000	0.03414	GAC		PASS	0.642	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		3	120	3	120	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42522959	42522959	+	Silent	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:42522959C>T	ENST00000360608.5	-	8	1323	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.L403L|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000359033.4_Silent_p.L352L	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	403					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.L352L(1)|p.L403L(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCTCATCCTTCAGCACCGATG	0.602																																						uc003bce.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|skin(1)	2						c.(1207-1209)CTG>CTA		cytochrome P450, family 2, subfamily D,							37.0	30.0	33.0					22																	42522959		2193	4290	6483	SO:0001819	synonymous_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42522959C>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1209G>A	22.37:g.42522959C>T						uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Silent_p.L97L|CYP2D6_uc003bcf.2_Silent_p.L352L	p.L403L	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			8	1299	-			403					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	c.1209G>A	CCDS46721.1																																																																																				PASS	0.602	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			9	12	9	12	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42523955	42523955	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:42523955C>T	ENST00000360608.5	-	6	988	c.874G>A	c.(874-876)Gat>Aat	p.D292N	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.D292N|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.D241N	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	292					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.D292N(1)|p.D241N(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGGTTCTCATCATTGAAGCTG	0.597																																						uc003bce.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2						c.(874-876)GAT>AAT		cytochrome P450, family 2, subfamily D,							91.0	79.0	83.0					22																	42523955		2196	4298	6494	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523955C>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.874G>A	22.37:g.42523955C>T	ENSP00000353820:p.Asp292Asn					uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Missense_Mutation_p.D241N	p.D292N	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			6	964	-			292					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.874G>A	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685919	0.29962	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.71222	-0.55;-0.55;-0.55	4.45	3.42	0.39159	.	1.003230	0.08027	N	0.992919	T	0.70245	0.3202	M	0.76002	2.32	0.29699	N	0.840309	B;B	0.10296	0.003;0.001	B;B	0.23419	0.046;0.012	T	0.61367	-0.7077	9	.	.	.	.	7.7968	0.29152	0.1588:0.751:0.0:0.0902	.	241;292	Q6NXU8;Q6NWU0	.;.	N	292;292;238;241;241	ENSP00000353820:D292N;ENSP00000374620:D292N;ENSP00000351927:D241N	.	D	-	1	0	CYP2D6	40853899	0.000000	0.05858	0.669000	0.29828	0.077000	0.17291	-0.149000	0.10204	0.977000	0.38444	0.555000	0.69702	GAT		PASS	0.597	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			14	96	14	96	---	---	---	---
KIAA1644	85352	broad.mit.edu	37	22	44696781	44696781	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:44696781G>A	ENST00000381176.4	-	2	177	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	15						integral component of membrane (GO:0016021)		p.L15L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GCAATGAGAAGAGGACGGCGA	0.597																																						uc003bet.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(43-45)CTC>CTT		hypothetical protein LOC85352 precursor							67.0	71.0	70.0					22																	44696781		2022	4191	6213	SO:0001819	synonymous_variant	85352					integral to membrane		g.chr22:44696781G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.45C>T	22.37:g.44696781G>A							p.L15L	NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN			2	178	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	15					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Silent	SNP	ENST00000381176.4	37	c.45C>T	CCDS43025.1																																																																																				PASS	0.597	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		7	50	7	50	---	---	---	---
BRD1	23774	broad.mit.edu	37	22	50217446	50217446	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:50217446T>A	ENST00000216267.8	-	1	1006	c.520A>T	c.(520-522)Aag>Tag	p.K174*	BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Nonsense_Mutation_p.K174*|BRD1_ENST00000457780.2_Nonsense_Mutation_p.K174*|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404034.1_Nonsense_Mutation_p.K174*|BRD1_ENST00000342989.5_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	174					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.K174*(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGTCGCCCTTGCGCTTCTCA	0.582																																						uc003biv.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(520-522)AAG>TAG		bromodomain containing protein 1							89.0	68.0	75.0					22																	50217446		2203	4300	6503	SO:0001587	stop_gained	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217446T>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.520A>T	22.37:g.50217446T>A	ENSP00000216267:p.Lys174*					BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Nonsense_Mutation_p.K174*|BRD1_uc011arh.1_Nonsense_Mutation_p.K174*|BRD1_uc003biu.3_Nonsense_Mutation_p.K174*	p.K174*	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1007	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	174					A6ZJA4	Nonsense_Mutation	SNP	ENST00000216267.8	37	c.520A>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	T	33	5.201428	0.94997	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	.	.	.	4.72	3.65	0.41850	.	0.150023	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2476	0.49006	0.0:0.0:0.1537:0.8463	.	.	.	.	X	174	.	.	K	-	1	0	BRD1	48603450	0.794000	0.28838	0.917000	0.36280	0.911000	0.54048	2.233000	0.43027	0.622000	0.30249	0.372000	0.22366	AAG		PASS	0.582	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		6	64	6	64	---	---	---	---
CPT1B	1375	broad.mit.edu	37	22	51009322	51009322	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chr22:51009322C>T	ENST00000360719.2	-	16	2163	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	CPT1B_ENST00000434492.2_Missense_Mutation_p.E471K|CPT1B_ENST00000440709.1_Missense_Mutation_p.E595K|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.E676K|CPT1B_ENST00000312108.7_Missense_Mutation_p.E676K|CPT1B_ENST00000457250.1_Missense_Mutation_p.E642K|CPT1B_ENST00000395650.2_Missense_Mutation_p.E676K	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	676					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.E676K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGCTGACCTCAGCAAGGAAA	0.577																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2026-2028)GAG>AAG		carnitine palmitoyltransferase 1B isoform a							131.0	109.0	116.0					22																	51009322		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009322C>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2026G>A	22.37:g.51009322C>T	ENSP00000353945:p.Glu676Lys					CPT1B_uc003bml.2_Missense_Mutation_p.E676K|CPT1B_uc003bmm.2_Missense_Mutation_p.E676K|CPT1B_uc003bmo.2_Missense_Mutation_p.E676K|CPT1B_uc011asa.1_Missense_Mutation_p.E642K|CPT1B_uc003bmn.2_Missense_Mutation_p.E676K|CPT1B_uc011asb.1_Missense_Mutation_p.E595K|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.E471K|uc003bmr.1_5'Flank	p.E676K	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	15	2188	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	676			Cytoplasmic (Potential).		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.2026G>A	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056275	0.36277	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.74	4.7	0.59300	.	0.160714	0.56097	D	0.000032	D	0.85279	0.5660	L	0.45285	1.41	0.43503	D	0.995756	B;B;B;B	0.27732	0.028;0.012;0.053;0.187	B;B;B;B	0.31245	0.019;0.052;0.086;0.126	T	0.82456	-0.0448	10	0.38643	T	0.18	-34.16	13.9677	0.64218	0.0:0.8116:0.1884:0.0	.	595;642;471;676	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	K	676;676;676;642;595;471;676	ENSP00000385486:E676K;ENSP00000312189:E676K;ENSP00000353945:E676K;ENSP00000409342:E642K;ENSP00000414713:E595K;ENSP00000410966:E471K;ENSP00000379011:E676K	ENSP00000312189:E676K	E	-	1	0	CPT1B	49356188	0.560000	0.26570	1.000000	0.80357	0.622000	0.37654	0.853000	0.27777	2.715000	0.92844	0.655000	0.94253	GAG		PASS	0.577	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		29	225	29	225	---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10109498	10109498	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:10109498G>T	ENST00000380861.4	+	23	3627	c.3236G>T	c.(3235-3237)aGg>aTg	p.R1079M	WWC3_ENST00000454666.1_Missense_Mutation_p.R1079M	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1079					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.R1079M(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTCTTCACAAGGCCAAGGATC	0.463																																						uc004csx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3235-3237)AGG>ATG		WWC family member 3							147.0	108.0	121.0					X																	10109498		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10109498G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3236G>T	X.37:g.10109498G>T	ENSP00000370242:p.Arg1079Met					WWC3_uc010nds.2_Missense_Mutation_p.R743M|WWC3_uc010ndt.2_RNA	p.R1079M	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			23	3434	+			1079					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.3236G>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224295	0.79576	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.57752	0.38;0.38	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.81497	2.545	0.80722	D	1	D	0.53312	0.959	P	0.58210	0.835	T	0.73222	-0.4051	9	.	.	.	-19.6253	19.1798	0.93619	0.0:0.0:1.0:0.0	.	1079	Q9ULE0	WWC3_HUMAN	M	1079;1079;574	ENSP00000370242:R1079M;ENSP00000399584:R1079M	.	R	+	2	0	WWC3	10069498	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.335000	0.96500	2.480000	0.83734	0.529000	0.55759	AGG		PASS	0.463	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		9	101	9	101	---	---	---	---
ASB11	140456	broad.mit.edu	37	X	15311321	15311321	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:15311321G>T	ENST00000480796.1	-	4	541	c.491C>A	c.(490-492)gCc>gAc	p.A164D	ASB11_ENST00000537676.1_Missense_Mutation_p.A143D|ASB11_ENST00000344384.4_Missense_Mutation_p.A143D|ASB11_ENST00000380470.3_Missense_Mutation_p.A147D			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	164					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A164D(1)|p.A143D(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GATGGGCGAGGCCAGGTGCAC	0.542																																						uc004cwp.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|skin(1)	3						c.(490-492)GCC>GAC		ankyrin repeat and SOCS box-containing protein							183.0	145.0	158.0					X																	15311321		2203	4300	6503	SO:0001583	missense	140456				intracellular signal transduction			g.chrX:15311321G>T	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.491C>A	X.37:g.15311321G>T	ENSP00000417914:p.Ala164Asp					ASB11_uc004cwo.1_Missense_Mutation_p.A143D|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.A147D	p.A164D	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN			4	491	-	Hepatocellular(33;0.183)		164			ANK 4.		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.491C>A	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	g	10.20	1.285098	0.23392	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.16	4.28	0.50868	Ankyrin repeat-containing domain (3);	0.178728	0.39615	N	0.001303	T	0.43344	0.1243	N	0.11892	0.195	0.38489	D	0.947918	D;D;D	0.71674	0.998;0.992;0.997	D;P;P	0.77004	0.989;0.862;0.862	T	0.38156	-0.9674	10	0.14656	T	0.56	-0.536	7.8535	0.29468	0.0875:0.1597:0.7528:0.0	.	147;164;143	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	D	143;147;143;164	ENSP00000445465:A143D;ENSP00000369837:A147D;ENSP00000343408:A143D;ENSP00000417914:A164D	ENSP00000343408:A143D	A	-	2	0	ASB11	15221242	1.000000	0.71417	0.526000	0.27913	0.019000	0.09904	4.752000	0.62176	1.045000	0.40225	0.597000	0.82753	GCC		PASS	0.542	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			24	284	24	284	---	---	---	---
TMEM27	57393	broad.mit.edu	37	X	15657880	15657880	+	Splice_Site	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:15657880C>G	ENST00000380342.3	-	5	573		c.e5-1			NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27						positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)	p.?(1)		endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					CTTGTTCATTCTAAAATGCAA	0.313																																						uc004cxc.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e5-1		transmembrane protein 27 precursor							93.0	96.0	95.0					X																	15657880		2203	4300	6503	SO:0001630	splice_region_variant	57393				proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity	g.chrX:15657880C>G	AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"""collectrin"""	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.318-1G>C	X.37:g.15657880C>G							p.R106_splice	NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN			5	574	-	Hepatocellular(33;0.183)							B2R9M1|Q6UW07	Splice_Site	SNP	ENST00000380342.3	37	c.318_splice	CCDS14170.1	.	.	.	.	.	.	.	.	.	.	c	16.32	3.090516	0.55968	.	.	ENSG00000147003	ENST00000380342	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.625	0.88091	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM27	15567801	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	5.470000	0.66756	2.520000	0.84964	0.591000	0.81541	.		PASS	0.313	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665	Intron	16	215	16	215	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18283874	18283874	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:18283874G>T	ENST00000251900.4	-	8	938	c.779C>A	c.(778-780)gCa>gAa	p.A260E	SCML2_ENST00000398048.3_5'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	260					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A260E(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ATGCTGGCTTGCTTCGGAAGG	0.368																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GCA>GAA		sex comb on midleg-like 2							113.0	103.0	106.0					X																	18283874		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18283874G>T	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.779C>A	X.37:g.18283874G>T	ENSP00000251900:p.Ala260Glu					SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.A260E|SCML2_uc011miz.1_Missense_Mutation_p.A194E|SCML2_uc010nfc.2_5'UTR	p.A260E	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			8	936	-	Hepatocellular(33;0.183)		260					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.779C>A	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	0.105	-1.146893	0.01714	.	.	ENSG00000102098	ENST00000251900;ENST00000442000	T	0.17854	2.25	5.65	-2.19	0.07015	.	1.250100	0.05247	N	0.513231	T	0.13457	0.0326	L	0.57536	1.79	0.24320	N	0.995048	B;B	0.20671	0.047;0.029	B;B	0.15484	0.013;0.009	T	0.32851	-0.9891	10	0.21540	T	0.41	.	0.4135	0.00445	0.3699:0.1412:0.1553:0.3336	.	228;260	B4DZR9;Q9UQR0	.;SCML2_HUMAN	E	260;228	ENSP00000251900:A260E	ENSP00000251900:A260E	A	-	2	0	SCML2	18193795	0.457000	0.25752	0.000000	0.03702	0.197000	0.23852	0.848000	0.27710	-0.455000	0.07054	0.468000	0.43344	GCA		PASS	0.368	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		24	177	24	177	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18919706	18919706	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:18919706G>C	ENST00000379942.4	-	27	3589	c.2924C>G	c.(2923-2925)tCc>tGc	p.S975C		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	975					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.S975C(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGATGTGGAGGAGTGGATAGG	0.557																																						uc004cyv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2923-2925)TCC>TGC		phosphorylase kinase, alpha 2 (liver)							142.0	123.0	129.0					X																	18919706		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18919706G>C		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2924C>G	X.37:g.18919706G>C	ENSP00000369274:p.Ser975Cys					PHKA2_uc004cyu.3_Missense_Mutation_p.S273C|PHKA2_uc010nfe.1_Missense_Mutation_p.S25C|PHKA2_uc010nff.1_Intron	p.S975C	NM_000292	NP_000283	P46019	KPB2_HUMAN			27	3354	-	Hepatocellular(33;0.183)		975					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2924C>G	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143501	0.94603	.	.	ENSG00000044446	ENST00000379942	D	0.91631	-2.88	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.94739	0.8302	M	0.64260	1.97	0.80722	D	1	D	0.67145	0.996	P	0.57776	0.827	D	0.94677	0.7862	10	0.66056	D	0.02	-19.2547	19.5104	0.95139	0.0:0.0:1.0:0.0	.	975	P46019	KPB2_HUMAN	C	975	ENSP00000369274:S975C	ENSP00000369274:S975C	S	-	2	0	PHKA2	18829627	1.000000	0.71417	0.938000	0.37757	0.957000	0.61999	6.073000	0.71245	2.562000	0.86427	0.600000	0.82982	TCC		PASS	0.557	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		11	61	11	61	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19021157	19021157	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:19021157G>A	ENST00000379869.3	-	24	2200	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	GPR64_ENST00000357991.3_Silent_p.F676F|GPR64_ENST00000379878.3_Silent_p.F663F|GPR64_ENST00000354791.3_Silent_p.F663F|GPR64_ENST00000357544.3_Silent_p.F649F|GPR64_ENST00000379876.1_Silent_p.F655F|GPR64_ENST00000356606.4_Silent_p.F665F|GPR64_ENST00000379873.2_Silent_p.F679F|GPR64_ENST00000340581.3_Silent_p.F560F|GPR64_ENST00000360279.4_Silent_p.F657F	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	679					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.F676F(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGTCCAGGAGGAAGACCAGGT	0.463																																						uc004cyx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2035-2037)TTC>TTT		G protein-coupled receptor 64 isoform 1							90.0	84.0	86.0					X																	19021157		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19021157G>A	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2037C>T	X.37:g.19021157G>A						GPR64_uc004cyy.2_Silent_p.F676F|GPR64_uc004cyz.2_Silent_p.F665F|GPR64_uc004czb.2_Silent_p.F679F|GPR64_uc004czc.2_Silent_p.F663F|GPR64_uc004czd.2_Silent_p.F655F|GPR64_uc004cze.2_Silent_p.F649F|GPR64_uc004czf.2_Silent_p.F641F|GPR64_uc004cza.2_Silent_p.F657F|GPR64_uc004cyw.2_Silent_p.F663F|GPR64_uc010nfj.2_Silent_p.F560F	p.F679F	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			24	2201	-	Hepatocellular(33;0.183)		679			Helical; Name=2; (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.2037C>T	CCDS43923.1																																																																																				PASS	0.463	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			14	136	14	136	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23018387	23018387	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:23018387A>G	ENST00000327968.5	+	1	301	c.213A>G	c.(211-213)atA>atG	p.I71M	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	71	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.I71M(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GATCAAAAATAAAAGATCTAC	0.398																																						uc004daj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(211-213)ATA>ATG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							67.0	70.0	69.0					X																	23018387		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23018387A>G	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.213A>G	X.37:g.23018387A>G	ENSP00000368667:p.Ile71Met						p.I71M	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	301	+			71			KH.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.213A>G	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198077	0.38806	.	.	ENSG00000184735	ENST00000327968	T	0.56275	0.47	4.26	1.96	0.26148	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	U	0.000000	T	0.75591	0.3870	H	0.94345	3.525	0.09310	N	1	D	0.71674	0.998	D	0.74348	0.983	T	0.67102	-0.5755	10	0.87932	D	0	-0.4521	8.5224	0.33285	0.3989:0.6011:0.0:0.0	.	71	Q86TM3	DDX53_HUMAN	M	71	ENSP00000368667:I71M	ENSP00000368667:I71M	I	+	3	3	DDX53	22928308	0.082000	0.21442	0.010000	0.14722	0.006000	0.05464	-0.185000	0.09684	0.171000	0.19730	0.483000	0.47432	ATA		PASS	0.398	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		9	129	9	129	---	---	---	---
SUPT20HL1	100130302	broad.mit.edu	37	X	24380969	24380970	+	IGR	DNP	GG	GG	CT			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:24380969_24380970GG>CT								AC004552.1 (13946 upstream) : PDK3 (102367 downstream)														p.R138T(2)|p.R138S(1)									TACTCACCTAGGGCGGGAAAAA	0.421																																						uc011mjx.1																			3	Substitution - Missense(3)		lung(3)	kidney(1)	1						c.(91-93)AGG>ACG|c.(91-93)AGG>AGT		hypothetical protein LOC100130302																																				SO:0001628	intergenic_variant	100130302							g.chrX:24380969G>C|g.chrX:24380970G>T																													X.37:g.24380969_24380970delinsCT							p.R31T|p.R31S	NM_001136234	NP_001129706					1	92|93	+									Missense_Mutation	SNP		37	c.92G>C|c.93G>T																																																																																				0	PASS	0.421									13|12	167|164	12	164	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148947	34148947	+	Silent	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:34148947G>C	ENST00000346193.3	-	1	1500	c.1449C>G	c.(1447-1449)ccC>ccG	p.P483P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	483								p.P483P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACGTGTCTTGGGATGTTCCG	0.617																																						uc004ddg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1447-1449)CCC>CCG		hypothetical protein LOC158724							48.0	54.0	52.0					X																	34148947		2187	4275	6462	SO:0001819	synonymous_variant	158724							g.chrX:34148947G>C	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1449C>G	X.37:g.34148947G>C							p.P483P	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1482	-			483					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1449C>G	CCDS43926.1																																																																																				PASS	0.617	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		18	95	18	95	---	---	---	---
CXorf36	79742	broad.mit.edu	37	X	45013207	45013207	+	Silent	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:45013207C>A	ENST00000398000.2	-	4	983	c.909G>T	c.(907-909)ggG>ggT	p.G303G	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	303						extracellular region (GO:0005576)		p.G303G(1)		endometrium(1)|large_intestine(2)|lung(4)	7						TGAACAGATGCCCGTTGTTAA	0.537																																						uc004dgg.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(907-909)GGG>GGT		hypothetical protein LOC79742 isoform 1							72.0	58.0	62.0					X																	45013207		1568	3582	5150	SO:0001819	synonymous_variant	79742					extracellular region		g.chrX:45013207C>A	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.909G>T	X.37:g.45013207C>A							p.G303G	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN			4	984	-			303					A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	ENST00000398000.2	37	c.909G>T	CCDS48096.1																																																																																				PASS	0.537	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		7	80	7	80	---	---	---	---
ZNF81	347344	broad.mit.edu	37	X	47775612	47775612	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:47775612G>C	ENST00000376954.1	+	6	1935	c.1567G>C	c.(1567-1569)Gaa>Caa	p.E523Q	ZNF81_ENST00000338637.7_Missense_Mutation_p.E523Q			P51508	ZNF81_HUMAN	zinc finger protein 81	523					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.E523Q(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCATACTGGAGAAAAGTCTTA	0.418																																						uc010nhy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1567-1569)GAA>CAA		zinc finger protein 81							54.0	54.0	54.0					X																	47775612		2141	4265	6406	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775612G>C	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1567G>C	X.37:g.47775612G>C	ENSP00000366153:p.Glu523Gln						p.E523Q	NM_007137	NP_009068	P51508	ZNF81_HUMAN			6	1935	+		all_lung(315;0.0973)	523					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1567G>C	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897479	0.72639	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.25912	1.77;1.77	4.32	4.32	0.51571	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41097	D	0.000959	T	0.44201	0.1282	L	0.52011	1.625	0.34773	D	0.733969	D	0.89917	1.0	D	0.85130	0.997	T	0.56986	-0.7888	10	0.66056	D	0.02	.	13.723	0.62740	0.0:0.0:1.0:0.0	.	523	P51508	ZNF81_HUMAN	Q	523	ENSP00000366153:E523Q;ENSP00000341151:E523Q	ENSP00000341151:E523Q	E	+	1	0	ZNF81	47660556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.129000	0.94430	2.408000	0.81797	0.544000	0.68410	GAA		PASS	0.418	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		15	121	15	121	---	---	---	---
GPKOW	27238	broad.mit.edu	37	X	48973958	48973958	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:48973958T>C	ENST00000156109.5	-	5	851	c.773A>G	c.(772-774)tAt>tGt	p.Y258C		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	258	KOW 1.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.Y258C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TACCTTCCCATAGAGGCCTCG	0.527																																						uc004dmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(772-774)TAT>TGT		G patch domain and KOW motifs							48.0	47.0	47.0					X																	48973958		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48973958T>C	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.773A>G	X.37:g.48973958T>C	ENSP00000156109:p.Tyr258Cys						p.Y258C	NM_015698	NP_056513	Q92917	GPKOW_HUMAN			5	780	-			258			KOW 1.		Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.773A>G	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.182775	0.57800	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.88	3.72	0.42706	KOW (2);	0.056844	0.64402	D	0.000001	T	0.70219	0.3199	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.69888	-0.5023	9	0.59425	D	0.04	-3.1101	8.9677	0.35887	0.0:0.0907:0.0:0.9093	.	258	Q92917	GPKOW_HUMAN	C	258	.	ENSP00000156109:Y258C	Y	-	2	0	GPKOW	48860902	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	5.648000	0.67930	0.796000	0.33947	-0.323000	0.08544	TAT		PASS	0.527	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		11	101	11	101	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49066420	49066420	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:49066420C>A	ENST00000376265.2	-	40	4765	c.4704G>T	c.(4702-4704)gaG>gaT	p.E1568D	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1503D|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1557D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1568					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.E1568D(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)	GGGGGATGACCTCATCTAGCA	0.592																																						uc004dnb.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(4702-4704)GAG>GAT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						91.0	70.0	77.0					X																	49066420		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:49066420C>A	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.4704G>T	X.37:g.49066420C>A	ENSP00000365441:p.Glu1568Asp					CACNA1F_uc010nip.2_Missense_Mutation_p.E1557D	p.E1568D	NM_005183	NP_005174	O60840	CAC1F_HUMAN			40	4766	-			1568			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.4704G>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991115	0.74703	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96522	-4.04;-3.96;-3.96	5.19	-0.536	0.11876	.	0.208186	0.48767	N	0.000178	D	0.94689	0.8287	L	0.52573	1.65	0.44345	D	0.997236	P;D	0.61697	0.935;0.99	P;P	0.50708	0.648;0.519	D	0.91249	0.5028	10	0.66056	D	0.02	.	10.0199	0.42037	0.0:0.5892:0.0:0.4108	.	1557;1568	F5CIQ9;O60840	.;CAC1F_HUMAN	D	1503;1557;1568	ENSP00000365427:E1503D;ENSP00000321618:E1557D;ENSP00000365441:E1568D	ENSP00000321618:E1557D	E	-	3	2	CACNA1F	48953364	0.191000	0.23288	0.972000	0.41901	0.998000	0.95712	-0.352000	0.07701	-0.692000	0.05128	0.600000	0.82982	GAG		PASS	0.592	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		8	97	8	97	---	---	---	---
CCDC22	28952	broad.mit.edu	37	X	49105371	49105371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:49105371G>T	ENST00000376227.3	+	13	1695	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	509								p.E509*(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GAAGCAGAAGGAAGAGATCAC	0.607																																						uc004dnd.1																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(1525-1527)GAA>TAA		coiled-coil domain containing 22							56.0	34.0	41.0					X																	49105371		2201	4300	6501	SO:0001587	stop_gained	28952							g.chrX:49105371G>T	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1525G>T	X.37:g.49105371G>T	ENSP00000365401:p.Glu509*					CCDC22_uc004dnc.1_RNA	p.E509*	NM_014008	NP_054727	O60826	CCD22_HUMAN			13	1681	+			509			Potential.		A8K7G1	Nonsense_Mutation	SNP	ENST00000376227.3	37	c.1525G>T	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	G	40	7.962665	0.98583	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-11.7953	17.1252	0.86712	0.0:0.0:1.0:0.0	.	.	.	.	X	509	.	ENSP00000365401:E509X	E	+	1	0	CCDC22	48992315	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	9.088000	0.94132	2.309000	0.77851	0.292000	0.19580	GAA		PASS	0.607	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		5	39	5	39	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350966	50350966	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:50350966G>C	ENST00000289292.7	-	6	3459	c.3176C>G	c.(3175-3177)tCa>tGa	p.S1059*	SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.S943*|SHROOM4_ENST00000376020.2_Nonsense_Mutation_p.S1059*			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1059					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.S1059*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GTGACTCTCTGAGAAGGCACG	0.557																																						uc004dpe.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(3175-3177)TCA>TGA		shroom family member 4							44.0	41.0	42.0					X																	50350966		2203	4300	6503	SO:0001587	stop_gained	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350966G>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3176C>G	X.37:g.50350966G>C	ENSP00000289292:p.Ser1059*					SHROOM4_uc004dpd.3_RNA	p.S1059*	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			6	3202	-	Ovarian(276;0.236)		1059					A7E2X9|D6RFW0|Q96LA0	Nonsense_Mutation	SNP	ENST00000289292.7	37	c.3176C>G	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	42	9.246951	0.99113	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	.	.	.	5.65	5.65	0.86999	.	0.088273	0.47093	D	0.000244	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9719	0.80027	0.0:0.0:1.0:0.0	.	.	.	.	X	1059;1059;943	.	ENSP00000289292:S1059X	S	-	2	0	SHROOM4	50367706	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.934000	0.75880	2.372000	0.80975	0.513000	0.50165	TCA		PASS	0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		10	87	10	87	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50377427	50377427	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:50377427C>G	ENST00000289292.7	-	4	1929	c.1646G>C	c.(1645-1647)gGc>gCc	p.G549A	SHROOM4_ENST00000460112.3_Missense_Mutation_p.G433A|SHROOM4_ENST00000376020.2_Missense_Mutation_p.G549A			Q9ULL8	SHRM4_HUMAN	shroom family member 4	549					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.G549A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGCCTCTGTGCCACTAGCTGC	0.602																																						uc004dpe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1645-1647)GGC>GCC		shroom family member 4							35.0	28.0	30.0					X																	50377427		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377427C>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1646G>C	X.37:g.50377427C>G	ENSP00000289292:p.Gly549Ala					SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.G433A	p.G549A	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	1672	-	Ovarian(276;0.236)		549					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1646G>C	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.746381	0.00669	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.14144	2.96;2.96;2.53	5.23	2.44	0.29823	.	1.411100	0.03571	N	0.228540	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.32903	-0.9889	10	0.09590	T	0.72	.	7.0848	0.25252	0.0:0.6612:0.1598:0.1791	.	549	Q9ULL8	SHRM4_HUMAN	A	549;549;433	ENSP00000289292:G549A;ENSP00000365188:G549A;ENSP00000421450:G433A	ENSP00000289292:G549A	G	-	2	0	SHROOM4	50394167	0.000000	0.05858	0.010000	0.14722	0.038000	0.13279	0.406000	0.21032	0.642000	0.30620	0.600000	0.82982	GGC		PASS	0.602	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		8	35	8	35	---	---	---	---
BMP15	9210	broad.mit.edu	37	X	50659053	50659053	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:50659053T>G	ENST00000252677.3	+	2	625	c.625T>G	c.(625-627)Tgt>Ggt	p.C209G		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	209					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.C209G(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCGTTTTATGTGTCAGCAGCA	0.428																																						uc011mnw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(625-627)TGT>GGT		bone morphogenetic protein 15 precursor							147.0	117.0	127.0					X																	50659053		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659053T>G	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.625T>G	X.37:g.50659053T>G	ENSP00000252677:p.Cys209Gly						p.C209G	NM_005448	NP_005439	O95972	BMP15_HUMAN			2	625	+	Ovarian(276;0.236)		209					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.625T>G	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	t	8.053	0.766427	0.15983	.	.	ENSG00000130385	ENST00000252677	D	0.82255	-1.59	5.52	5.52	0.82312	.	0.042390	0.85682	D	0.000000	T	0.77356	0.4118	M	0.68952	2.095	0.51482	D	0.999928	P	0.36599	0.56	B	0.28638	0.092	T	0.74699	-0.3577	10	0.17369	T	0.5	.	12.4817	0.55847	0.0:0.0:0.0:1.0	.	209	O95972	BMP15_HUMAN	G	209	ENSP00000252677:C209G	ENSP00000252677:C209G	C	+	1	0	BMP15	50675793	0.978000	0.34361	0.996000	0.52242	0.024000	0.10985	1.303000	0.33470	1.854000	0.53819	0.451000	0.29950	TGT		PASS	0.428	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		19	172	19	172	---	---	---	---
SPANXN5	494197	broad.mit.edu	37	X	52825663	52825663	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:52825663C>G	ENST00000375511.3	-	2	836	c.84G>C	c.(82-84)gaG>gaC	p.E28D		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	28								p.E28D(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TGTTTGGTGTCTCCTGCATCT	0.408																																						uc004drc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)GAG>GAC		SPANX family, member N5							132.0	114.0	120.0					X																	52825663		2203	4300	6503	SO:0001583	missense	494197							g.chrX:52825663C>G		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.84G>C	X.37:g.52825663C>G	ENSP00000364661:p.Glu28Asp						p.E28D	NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN			2	84	-	Ovarian(276;0.236)		28						Missense_Mutation	SNP	ENST00000375511.3	37	c.84G>C	CCDS35295.1	.	.	.	.	.	.	.	.	.	.	c	11.37	1.618666	0.28801	.	.	ENSG00000204363	ENST00000375511	T	0.15139	2.45	0.199	0.199	0.15175	.	.	.	.	.	T	0.27765	0.0683	.	.	.	0.09310	N	1	D	0.61080	0.989	P	0.57911	0.829	T	0.10132	-1.0643	7	0.72032	D	0.01	.	.	.	.	.	28	Q5MJ07	SPXN5_HUMAN	D	28	ENSP00000364661:E28D	ENSP00000364661:E28D	E	-	3	2	SPANXN5	52842388	0.096000	0.21769	0.068000	0.19968	0.068000	0.16541	0.192000	0.17096	0.282000	0.22254	0.287000	0.19450	GAG		PASS	0.408	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		16	145	16	145	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53616585	53616585	+	Silent	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:53616585C>A	ENST00000342160.3	-	35	4840	c.4383G>T	c.(4381-4383)gtG>gtT	p.V1461V	HUWE1_ENST00000262854.6_Silent_p.V1461V|HUWE1_ENST00000218328.8_Silent_p.V1461V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1461					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.V1461V(1)|p.V1324V(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						TCAGGTCACACACACGGTATA	0.473																																						uc004dsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(4381-4383)GTG>GTT		HECT, UBA and WWE domain containing 1							229.0	175.0	193.0					X																	53616585		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:53616585C>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.4383G>T	X.37:g.53616585C>A						HUWE1_uc004dsn.2_Silent_p.V286V	p.V1461V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			36	4785	-			1461					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.4383G>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	8.852	0.944806	0.18356	.	.	ENSG00000086758	ENST00000427052	T	0.54071	0.59	5.93	-1.2	0.09554	.	0.232687	0.36815	N	0.002400	T	0.41419	0.1158	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17258	-1.0375	7	0.33940	T	0.23	.	1.1178	0.01718	0.3324:0.3309:0.1071:0.2296	.	.	.	.	L	495	ENSP00000401253:V495L	ENSP00000401253:V495L	V	-	1	0	HUWE1	53633310	0.003000	0.15002	0.956000	0.39512	0.971000	0.66376	-1.563000	0.02154	-0.802000	0.04421	-0.380000	0.06706	GTG		PASS	0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		18	165	18	165	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54578751	54578751	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:54578751C>T	ENST00000336470.4	+	13	1347	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L	GNL3L_ENST00000360845.2_Missense_Mutation_p.P403L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	403					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.P403L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TATATACCACCACCAGCCACT	0.502																																						uc004dth.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1207-1209)CCA>CTA		guanine nucleotide binding protein-like 3							181.0	140.0	154.0					X																	54578751		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578751C>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1208C>T	X.37:g.54578751C>T	ENSP00000338573:p.Pro403Leu					GNL3L_uc004dti.2_RNA	p.P403L	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			13	1347	+			403						Missense_Mutation	SNP	ENST00000336470.4	37	c.1208C>T	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638354	0.47153	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.45276	0.9;0.9	3.58	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74740	-0.3563	10	0.87932	D	0	-11.6356	12.1483	0.54036	0.0:1.0:0.0:0.0	.	403	Q9NVN8	GNL3L_HUMAN	L	403	ENSP00000338573:P403L;ENSP00000354091:P403L	ENSP00000338573:P403L	P	+	2	0	GNL3L	54595476	1.000000	0.71417	0.864000	0.33941	0.066000	0.16364	6.847000	0.75404	1.730000	0.51580	0.544000	0.68410	CCA		PASS	0.502	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		12	126	12	126	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54776515	54776515	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:54776515C>A	ENST00000218436.6	-	13	3784	c.3755G>T	c.(3754-3756)cGa>cTa	p.R1252L		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1252					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1252P(1)|p.R1252L(1)									TGTCACCAGTCGGATGTCTGC	0.592																																						uc004dtj.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(3754-3756)CGA>CTA		inter-alpha (globulin) inhibitor H5-like							70.0	46.0	54.0					X																	54776515		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54776515C>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3755G>T	X.37:g.54776515C>A	ENSP00000218436:p.Arg1252Leu						p.R1252L	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			13	3785	-			1252					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3755G>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927542	0.34002	.	.	ENSG00000102313	ENST00000218436	T	0.12039	2.72	3.58	-3.08	0.05347	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	2.578920	0.02912	N	0.136892	T	0.09949	0.0244	L	0.36672	1.1	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.29971	-0.9994	10	0.13470	T	0.59	.	5.6092	0.17396	0.1621:0.1789:0.0:0.659	.	1252	Q6UXX5	ITH5L_HUMAN	L	1252	ENSP00000218436:R1252L	ENSP00000218436:R1252L	R	-	2	0	ITIH5L	54793240	0.000000	0.05858	0.018000	0.16275	0.697000	0.40408	-1.684000	0.01932	-0.354000	0.08212	0.284000	0.19432	CGA		PASS	0.592	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		9	50	9	50	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54783527	54783527	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:54783527G>A	ENST00000218436.6	-	8	3009	c.2980C>T	c.(2980-2982)Cct>Tct	p.P994S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	994	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P994S(1)									ATGGCCTCAGGGAGGATGCTA	0.542																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2980-2982)CCT>TCT		inter-alpha (globulin) inhibitor H5-like							95.0	79.0	85.0					X																	54783527		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783527G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2980C>T	X.37:g.54783527G>A	ENSP00000218436:p.Pro994Ser						p.P994S	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	3010	-			994			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2980C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	5.631	0.301098	0.10678	.	.	ENSG00000102313	ENST00000218436	T	0.02525	4.26	4.34	0.377	0.16198	.	0.980679	0.08240	U	0.976295	T	0.02455	0.0075	N	0.19112	0.55	0.21105	N	0.99978	B	0.24963	0.115	B	0.19666	0.026	T	0.46470	-0.9189	10	0.59425	D	0.04	.	8.1895	0.31359	0.4701:0.0:0.5299:0.0	.	994	Q6UXX5	ITH5L_HUMAN	S	994	ENSP00000218436:P994S	ENSP00000218436:P994S	P	-	1	0	ITIH5L	54800252	0.164000	0.22935	0.780000	0.31762	0.446000	0.32137	0.243000	0.18106	0.158000	0.19367	-0.199000	0.12753	CCT		PASS	0.542	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		5	62	5	62	---	---	---	---
PFKFB1	5207	broad.mit.edu	37	X	54975540	54975540	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:54975540C>G	ENST00000375006.3	-	9	1031	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E256Q	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	321	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.E321Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCCACTGCTCATAGGGGACA	0.567																																						uc004dty.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(961-963)GAG>CAG		6-phosphofructo-2-kinase/fructose-2,							138.0	97.0	111.0					X																	54975540		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54975540C>G		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.961G>C	X.37:g.54975540C>G	ENSP00000364145:p.Glu321Gln					PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.E256Q	p.E321Q	NM_002625	NP_002616	P16118	F261_HUMAN			9	1032	-			321			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.961G>C	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412864	0.83340	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	T;T	0.71934	-0.61;-0.61	4.28	4.28	0.50868	Histidine phosphatase superfamily, clade-1 (2);	0.049060	0.85682	D	0.000000	T	0.78444	0.4284	L	0.56124	1.755	0.80722	D	1	P;D	0.57571	0.808;0.98	P;P	0.61132	0.518;0.884	T	0.80190	-0.1485	10	0.52906	T	0.07	-11.7734	15.4132	0.74943	0.0:1.0:0.0:0.0	.	256;321	B4DUN5;P16118	.;F261_HUMAN	Q	321;256	ENSP00000364145:E321Q;ENSP00000444074:E256Q	ENSP00000364145:E321Q	E	-	1	0	PFKFB1	54992265	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.569000	0.82380	2.080000	0.62538	0.431000	0.28591	GAG		PASS	0.567	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			14	123	14	123	---	---	---	---
APEX2	27301	broad.mit.edu	37	X	55028721	55028722	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:55028721_55028722GG>TT	ENST00000374987.3	+	3	345_346	c.279_280GG>TT	c.(277-282)gtGGct>gtTTct	p.A94S	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	94					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)	p.A94S(2)|p.V93V(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CTACCCCAGTGGCTGCTGAAGA	0.55								Other BER factors																														uc004dtz.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(1)	1						c.(277-279)GTG>GTT|c.(280-282)GCT>TCT	Other_BER_factors	apurinic/apyrimidinic endonuclease 2																																				SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55028721G>T|g.chrX:55028722G>T	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	Exception_encountered	X.37:g.55028721_55028722delinsTT	ENSP00000364126:p.Ala94Ser					APEX2_uc011mom.1_Intron	p.V93V|p.A94S	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			3	355|356	+			93|94					Q9Y5X7	Silent|Missense_Mutation	SNP	ENST00000374987.3	37	c.279G>T|c.280G>T	CCDS14365.1																																																																																				PASS	0.550	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			10	29|31	10	29	---	---	---	---
AMER1	139285	broad.mit.edu	37	X	63412770	63412770	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:63412770C>A	ENST00000330258.3	-	2	669	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	AMER1_ENST00000374869.3_Missense_Mutation_p.A133S|AMER1_ENST00000403336.1_Missense_Mutation_p.A133S	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	133					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.A133S(2)									GCCCCATGGGCACTCTGAGAG	0.542																																						uc004dvo.2																			69	Whole gene deletion(67)|Substitution - Missense(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(397-399)GCC>TCC		family with sequence similarity 123B							57.0	51.0	53.0					X																	63412770		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412770C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.397G>T	X.37:g.63412770C>A	ENSP00000329117:p.Ala133Ser						p.A133S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	670	-			133					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.397G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	3.281	-0.147107	0.06627	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.18810	2.19;2.19;2.19	4.59	-0.575	0.11734	.	1.280660	0.04966	N	0.463022	T	0.19886	0.0478	L	0.46157	1.445	0.09310	N	1	B	0.24317	0.101	B	0.31946	0.138	T	0.38735	-0.9647	10	0.07482	T	0.82	2.2065	9.4733	0.38856	0.0:0.4426:0.0:0.5574	.	133	Q5JTC6	F123B_HUMAN	S	133	ENSP00000364003:A133S;ENSP00000329117:A133S;ENSP00000384722:A133S	ENSP00000329117:A133S	A	-	1	0	FAM123B	63329495	0.633000	0.27181	0.001000	0.08648	0.548000	0.35241	1.226000	0.32563	-0.268000	0.09312	-0.192000	0.12808	GCC		PASS	0.542	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		13	101	13	101	---	---	---	---
ASB12	142689	broad.mit.edu	37	X	63445504	63445504	+	5'Flank	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:63445504C>G	ENST00000396130.2	-	0	0				MTMR8_ENST00000453546.1_Missense_Mutation_p.K384N|ASB12_ENST00000362002.2_Missense_Mutation_p.K9N			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.K384N(2)|p.K9N(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TGAGGTTCATCTTGGCTAATT	0.493																																						uc011mou.1																			6	Substitution - Missense(4)|Whole gene deletion(2)		large_intestine(3)|lung(2)|ovary(1)	ovary(2)|breast(2)	4						c.(1150-1152)AAG>AAC		myotubularin related protein 8							41.0	32.0	35.0					X																	63445504		2203	4298	6501	SO:0001631	upstream_gene_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445504C>G	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705		X.37:g.63445504C>G	Exception_encountered					ASB12_uc004dvp.1_Splice_Site_p.M1_splice|ASB12_uc004dvq.1_Missense_Mutation_p.K9N|ASB12_uc004dvr.1_Missense_Mutation_p.K9N	p.K384N	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1220	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1152G>C		.	.	.	.	.	.	.	.	.	.	C	9.464	1.093860	0.20471	.	.	ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000361287;ENST00000453546	T;T	0.76839	-0.0;-1.05	4.36	0.196	0.15159	.	0.221056	0.45606	N	0.000351	T	0.57621	0.2066	N	0.22421	0.69	0.26857	N	0.968042	B	0.10296	0.003	B	0.10450	0.005	T	0.39683	-0.9602	10	0.32370	T	0.25	.	5.0044	0.14280	0.0:0.2973:0.1789:0.5237	.	384	B4DQL0	.	N	9;9;384	ENSP00000355195:K9N;ENSP00000394003:K384N	ENSP00000354626:K9N	K	-	3	2	ASB12;MTMR8	63362229	0.996000	0.38824	0.962000	0.40283	0.870000	0.49936	0.222000	0.17699	-0.214000	0.10078	0.529000	0.55759	AAG		PASS	0.493	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	18	3	18	---	---	---	---
FOXO4	4303	broad.mit.edu	37	X	70320607	70320607	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:70320607C>G	ENST00000374259.3	+	2	859	c.527C>G	c.(526-528)tCt>tGt	p.S176C	FOXO4_ENST00000466874.1_3'UTR|FOXO4_ENST00000341558.3_Missense_Mutation_p.S121C	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	176					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S176C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GGCAAAAGCTCTTGGTGGATG	0.632											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dys.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|prostate(1)	3						c.(526-528)TCT>TGT		forkhead box O4							37.0	37.0	37.0					X																	70320607		2088	4210	6298	SO:0001583	missense	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70320607C>G		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.527C>G	X.37:g.70320607C>G	ENSP00000363377:p.Ser176Cys		OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	FOXO4_uc010nkz.2_Missense_Mutation_p.S176C|FOXO4_uc004dyt.1_Missense_Mutation_p.S121C	p.S176C	NM_005938	NP_005929	P98177	FOXO4_HUMAN			2	880	+	Renal(35;0.156)		176			Fork-head.		B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	c.527C>G	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	c	19.27	3.794930	0.70452	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95918	-3.85;-3.85	5.13	5.13	0.70059	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.97983	1.0350	10	0.72032	D	0.01	-10.9871	16.5963	0.84797	0.0:1.0:0.0:0.0	.	176;121;176	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	C	176;121	ENSP00000363377:S176C;ENSP00000342209:S121C	ENSP00000342209:S121C	S	+	2	0	FOXO4	70237332	1.000000	0.71417	0.989000	0.46669	0.793000	0.44817	7.252000	0.78309	2.382000	0.81193	0.590000	0.80494	TCT		PASS	0.632	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		7	33	7	33	---	---	---	---
PIN4	5303	broad.mit.edu	37	X	71416654	71416654	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:71416654A>G	ENST00000373669.2	+	3	244	c.212A>G	c.(211-213)gAa>gGa	p.E71G	RN7SL388P_ENST00000498736.2_RNA|PIN4_ENST00000218432.5_Missense_Mutation_p.E71G|PIN4_ENST00000423432.2_Missense_Mutation_p.E71G	NM_006223.3	NP_006214.2	Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	46	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				protein folding (GO:0006457)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome (GO:0030684)|spindle (GO:0005819)	bent DNA binding (GO:0003681)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.E71G(1)		large_intestine(1)|lung(2)	3	Renal(35;0.156)					ATTCTATGTGAAAAACATGGC	0.408																																						uc004eam.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GAA>GGA		protein (peptidyl-prolyl cis/trans isomerase)							76.0	70.0	72.0					X																	71416654		2203	4300	6503	SO:0001583	missense	5303				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity	g.chrX:71416654A>G	AB009690	CCDS14417.1, CCDS55447.1	Xq13.1	2008-02-05	2006-01-12		ENSG00000102309	ENSG00000102309			8992	protein-coding gene	gene with protein product		300252	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)"""			16522211, 17875217	Standard	NM_006223		Approved	PAR14, PAR17, EPVH	uc004eam.3	Q9Y237	OTTHUMG00000021811	ENST00000373669.2:c.212A>G	X.37:g.71416654A>G	ENSP00000362773:p.Glu71Gly					PIN4_uc004eao.1_Missense_Mutation_p.E71G	p.E71G	NM_006223	NP_006214	Q9Y237	PIN4_HUMAN			3	247	+	Renal(35;0.156)		46			PpiC.		A8E0G6|B3KXM0|F5H1P5|Q0D2H3|Q3MHV0|Q52M21|Q5HYW6|Q6IRW4	Missense_Mutation	SNP	ENST00000373669.2	37	c.212A>G	CCDS14417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.57|19.57	3.852991|3.852991	0.71719|0.71719	.|.	.|.	ENSG00000102309|ENSG00000102309	ENST00000218432;ENST00000423432;ENST00000373669;ENST00000496835|ENST00000446576	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69735|0.69735	0.3144|0.3144	M|M	0.65320|0.65320	2|2	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.87578|.	0.998;0.985|.	T|T	0.69394|0.69394	-0.5157|-0.5157	9|5	0.87932|.	D|.	0|.	-32.0534|-32.0534	12.6948|12.6948	0.56997|0.56997	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	71;71|.	F5H1P5;Q9Y237-2|.	.;.|.	G|E	71;71;71;53|76	.|.	ENSP00000218432:E71G|.	E|K	+|+	2|1	0|0	PIN4|PIN4	71333379|71333379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.558000|0.558000	0.35554|0.35554	8.509000|8.509000	0.90529|0.90529	1.905000|1.905000	0.55150|0.55150	0.486000|0.486000	0.48141|0.48141	GAA|AAA		PASS	0.408	PIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057175.2	NM_006223		19	122	19	122	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73046929	73046929	+	lincRNA	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:73046929G>T	ENST00000604411.1	+	0	34890				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TATACTTTGGGCCTTCTATCC	0.468																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							151.0	142.0	145.0					X																	73046929		876	1991	2867			9383							g.chrX:73046929G>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046929G>T						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.34890G>T																																																																																					PASS	0.468	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		41	239	41	239	---	---	---	---
SLC16A2	6567	broad.mit.edu	37	X	73744338	73744338	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:73744338C>A	ENST00000587091.1	+	3	897	c.720C>A	c.(718-720)agC>agA	p.S240R	SLC16A2_ENST00000276033.5_Missense_Mutation_p.S314R	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	240					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)	p.S314R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTGGGAGTAGCATTTTCTCCA	0.537																																						uc004ebt.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(940-942)AGC>AGA		solute carrier family 16, member 2	Pyruvic acid(DB00119)						137.0	90.0	106.0					X																	73744338		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73744338C>A		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.720C>A	X.37:g.73744338C>A	ENSP00000465734:p.Ser240Arg					SLC16A2_uc010nlr.1_5'UTR	p.S314R	NM_006517	NP_006508	P36021	MOT8_HUMAN			3	1108	+			240			Helical; (Potential).		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.942C>A	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026437	0.75390	.	.	ENSG00000147100	ENST00000276033	T	0.37915	1.17	5.75	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);	0.232961	0.53938	D	0.000047	T	0.60261	0.2255	M	0.79614	2.46	0.48040	D	0.999571	D	0.65815	0.995	D	0.71656	0.974	T	0.64989	-0.6277	10	0.72032	D	0.01	.	13.8418	0.63444	0.0:0.925:0.0:0.075	.	240	P36021	MOT8_HUMAN	R	314	ENSP00000276033:S314R	ENSP00000276033:S314R	S	+	3	2	SLC16A2	73661063	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.777000	0.55364	1.191000	0.43056	0.597000	0.82753	AGC		PASS	0.537	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			8	70	8	70	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75650413	75650413	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:75650413G>T	ENST00000361470.2	+	1	2368	c.2090G>T	c.(2089-2091)aGa>aTa	p.R697I		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	697						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.R697I(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GATGCTGCCAGAGCCTTTGCT	0.473																																						uc004ecm.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(2089-2091)AGA>ATA		melanoma antigen family E, 1							40.0	32.0	35.0					X																	75650413		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650413G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2090G>T	X.37:g.75650413G>T	ENSP00000354912:p.Arg697Ile						p.R697I	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	2297	+			697					Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2090G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	7.999	0.754884	0.15846	.	.	ENSG00000198934	ENST00000361470	T	0.04156	3.69	2.35	2.35	0.29111	.	.	.	.	.	T	0.18173	0.0436	M	0.81942	2.565	0.09310	N	0.999998	D	0.65815	0.995	D	0.69142	0.962	T	0.02471	-1.1154	9	0.87932	D	0	.	7.3782	0.26841	0.0:0.0:1.0:0.0	.	697	Q9HCI5	MAGE1_HUMAN	I	697	ENSP00000354912:R697I	ENSP00000354912:R697I	R	+	2	0	MAGEE1	75566817	0.018000	0.18449	0.035000	0.18076	0.013000	0.08279	0.550000	0.23345	1.437000	0.47472	0.600000	0.82982	AGA		PASS	0.473	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		6	33	6	33	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76920166	76920166	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:76920166C>A	ENST00000373344.5	-	11	4125	c.3911G>T	c.(3910-3912)gGa>gTa	p.G1304V	ATRX_ENST00000395603.3_Missense_Mutation_p.G1266V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1304	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G1304V(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTTTGTTTTCCAGTTCTTTT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3910-3912)GGA>GTA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						209.0	188.0	195.0					X																	76920166		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920166C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3911G>T	X.37:g.76920166C>A	ENSP00000362441:p.Gly1304Val					ATRX_uc004ecq.3_Missense_Mutation_p.G1266V|ATRX_uc004eco.3_Missense_Mutation_p.G1089V|ATRX_uc004ecr.2_Missense_Mutation_p.G1236V	p.G1304V	NM_000489	NP_000480	P46100	ATRX_HUMAN			11	4143	-			1304					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3911G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	6.256	0.415437	0.11870	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92149	-2.98;-2.98	4.89	2.99	0.34606	.	0.301734	0.26828	U	0.022291	D	0.88220	0.6378	L	0.54323	1.7	0.80722	D	1	B;B;B	0.18610	0.029;0.001;0.001	B;B;B	0.14578	0.011;0.004;0.001	D	0.83499	0.0074	10	0.36615	T	0.2	-5.3767	10.2549	0.43392	0.0:0.6264:0.2915:0.0821	.	1236;1266;1304	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	V	1304;1266;1231	ENSP00000362441:G1304V;ENSP00000378967:G1266V	ENSP00000362441:G1304V	G	-	2	0	ATRX	76806822	0.097000	0.21791	0.998000	0.56505	0.797000	0.45037	-0.037000	0.12164	0.962000	0.38057	0.600000	0.82982	GGA		PASS	0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		26	243	26	243	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938172	76938172	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:76938172C>A	ENST00000373344.5	-	9	2790	c.2576G>T	c.(2575-2577)gGa>gTa	p.G859V	ATRX_ENST00000395603.3_Missense_Mutation_p.G821V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	859					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G859V(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTATCCATTCCTTTTTTGCT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2575-2577)GGA>GTA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						263.0	276.0	271.0					X																	76938172		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938172C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2576G>T	X.37:g.76938172C>A	ENSP00000362441:p.Gly859Val					ATRX_uc004ecq.3_Missense_Mutation_p.G821V|ATRX_uc004eco.3_Missense_Mutation_p.G644V|ATRX_uc004ecr.2_Missense_Mutation_p.G791V|ATRX_uc010nlx.1_Missense_Mutation_p.G830V|ATRX_uc010nly.1_Missense_Mutation_p.G804V	p.G859V	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2808	-			859					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2576G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.405906	0.01155	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91843	-2.91;-2.92	5.73	0.618	0.17624	.	0.602885	0.17311	N	0.178893	T	0.81522	0.4840	L	0.28115	0.83	0.42839	D	0.994048	B;B;B;B	0.14805	0.001;0.011;0.003;0.001	B;B;B;B	0.12156	0.002;0.007;0.005;0.002	T	0.63382	-0.6650	10	0.19147	T	0.46	-0.3517	2.3819	0.04357	0.3928:0.3499:0.111:0.1463	.	859;791;821;859	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	V	859;821;786	ENSP00000362441:G859V;ENSP00000378967:G821V	ENSP00000362441:G859V	G	-	2	0	ATRX	76824828	0.297000	0.24408	0.002000	0.10522	0.526000	0.34562	0.464000	0.21988	-0.341000	0.08376	-0.475000	0.04921	GGA		PASS	0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		82	758	82	758	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938658	76938658	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:76938658T>C	ENST00000373344.5	-	9	2304	c.2090A>G	c.(2089-2091)aAa>aGa	p.K697R	ATRX_ENST00000395603.3_Missense_Mutation_p.K659R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	697					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K697R(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTATCCTTTTTTCTCACTGG	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2089-2091)AAA>AGA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						150.0	148.0	149.0					X																	76938658		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938658T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2090A>G	X.37:g.76938658T>C	ENSP00000362441:p.Lys697Arg					ATRX_uc004ecq.3_Missense_Mutation_p.K659R|ATRX_uc004eco.3_Missense_Mutation_p.K482R|ATRX_uc004ecr.2_Missense_Mutation_p.K629R|ATRX_uc010nlx.1_Missense_Mutation_p.K668R|ATRX_uc010nly.1_Missense_Mutation_p.K642R	p.K697R	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2322	-			697					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2090A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.787252	0.31593	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.94576	-3.46;-3.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.96367	0.8815	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.998;0.997	D;D;D;D	0.80764	0.98;0.969;0.994;0.98	D	0.96729	0.9538	10	0.66056	D	0.02	-16.3776	14.9938	0.71415	0.0:0.0:0.0:1.0	.	697;629;659;697	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	R	697;659;624	ENSP00000362441:K697R;ENSP00000378967:K659R	ENSP00000362441:K697R	K	-	2	0	ATRX	76825314	1.000000	0.71417	0.997000	0.53966	0.824000	0.46624	4.603000	0.61105	1.923000	0.55706	0.417000	0.27973	AAA		PASS	0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		36	507	36	507	---	---	---	---
ZCCHC5	203430	broad.mit.edu	37	X	77912921	77912921	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:77912921A>C	ENST00000321110.1	-	2	1292	c.997T>G	c.(997-999)Tgc>Ggc	p.C333G		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	333							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.C333G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCCCCTTGGCAGAGTTGATGG	0.468																																						uc004edc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(997-999)TGC>GGC		zinc finger, CCHC domain containing 5							73.0	61.0	65.0					X																	77912921		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912921A>C	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.997T>G	X.37:g.77912921A>C	ENSP00000316794:p.Cys333Gly						p.C333G	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1293	-			333					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.997T>G	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	A	1.093	-0.663563	0.03428	.	.	ENSG00000179300	ENST00000321110	T	0.16597	2.33	3.2	2.05	0.26809	.	0.339883	0.19666	U	0.108875	T	0.16085	0.0387	N	0.22421	0.69	0.20196	N	0.999921	D	0.64830	0.994	P	0.56960	0.81	T	0.08269	-1.0730	10	0.31617	T	0.26	.	4.0396	0.09745	0.8243:0.0:0.1757:0.0	.	333	Q8N8U3	ZCHC5_HUMAN	G	333	ENSP00000316794:C333G	ENSP00000316794:C333G	C	-	1	0	ZCCHC5	77799577	0.971000	0.33674	0.551000	0.28230	0.041000	0.13682	1.141000	0.31528	0.465000	0.27167	0.412000	0.27726	TGC		PASS	0.468	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		9	76	9	76	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83128432	83128432	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:83128432C>G	ENST00000329312.4	+	4	753	c.716C>G	c.(715-717)tCa>tGa	p.S239*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	239					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S238*(1)|p.S239*(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAGATTTGCTCAGAAAATAGT	0.333																																						uc004eei.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(1)	5						c.(715-717)TCA>TGA		cylicin, basic protein of sperm head							35.0	32.0	33.0					X																	83128432		2194	4289	6483	SO:0001587	stop_gained	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128432C>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.716C>G	X.37:g.83128432C>G	ENSP00000331556:p.Ser239*					CYLC1_uc004eeh.1_Nonsense_Mutation_p.S238*	p.S239*	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	737	+			239					A0AVQ8|Q5JQQ9	Nonsense_Mutation	SNP	ENST00000329312.4	37	c.716C>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	15.52	2.859041	0.51376	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	.	.	.	4.13	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.5989	3.5577	0.07870	0.0:0.532:0.2177:0.2503	.	.	.	.	X	239	.	ENSP00000331556:S239X	S	+	2	0	CYLC1	83015088	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.028000	0.12350	0.133000	0.18654	0.513000	0.50165	TCA		PASS	0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		17	61	17	61	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85906092	85906092	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:85906092A>G	ENST00000373125.4	+	4	694	c.694A>G	c.(694-696)Atg>Gtg	p.M232V	DACH2_ENST00000373131.1_Missense_Mutation_p.M219V|DACH2_ENST00000510272.1_Missense_Mutation_p.M13V|DACH2_ENST00000508860.1_Missense_Mutation_p.M65V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	232					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M232V(1)|p.M219V(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGAAGCTTATGGCTATGAA	0.388																																						uc004eew.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(694-696)ATG>GTG		dachshund 2 isoform a							91.0	72.0	79.0					X																	85906092		2203	4299	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85906092A>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.694A>G	X.37:g.85906092A>G	ENSP00000362217:p.Met232Val					DACH2_uc004eex.2_Missense_Mutation_p.M219V|DACH2_uc010nmq.2_Missense_Mutation_p.M98V|DACH2_uc011mra.1_Missense_Mutation_p.M65V|DACH2_uc010nmr.2_Missense_Mutation_p.M13V	p.M232V	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			4	864	+			232					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.694A>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004381	0.35320	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.83163	-1.69;-1.69	4.45	4.45	0.53987	.	0.067137	0.64402	D	0.000012	T	0.76765	0.4033	L	0.53249	1.67	0.46356	D	0.999002	B;B;B	0.31318	0.319;0.24;0.073	B;B;B	0.29176	0.045;0.099;0.017	T	0.71600	-0.4544	10	0.13108	T	0.6	.	13.0694	0.59053	1.0:0.0:0.0:0.0	.	98;219;232	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	232;219;232;65;13;65	ENSP00000362223:M219V;ENSP00000362217:M232V	ENSP00000345134:M232V	M	+	1	0	DACH2	85792748	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	3.809000	0.55606	1.452000	0.47756	0.417000	0.27973	ATG		PASS	0.388	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		7	39	7	39	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177476	89177476	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:89177476A>T	ENST00000561129.2	+	1	522	c.392A>T	c.(391-393)cAt>cTt	p.H131L	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.H131L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H131L(1)|p.H131I(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						AAAGATGCCCATGCCACCCAC	0.567																																						uc004efe.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(391-393)CAT>CTT		TGFB-induced factor homeobox 2-like, X-linked							42.0	41.0	41.0					X																	89177476		2203	4296	6499	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177476A>T	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.392A>T	X.37:g.89177476A>T	ENSP00000453704:p.His131Leu						p.H131L	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	441	+			131					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.392A>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	A	9.281	1.048187	0.19827	.	.	ENSG00000153779	ENST00000283891	T	0.64260	-0.09	2.81	0.33	0.15929	.	.	.	.	.	T	0.50343	0.1610	L	0.54323	1.7	0.09310	N	1	B	0.24675	0.109	B	0.20767	0.031	T	0.35425	-0.9789	8	.	.	.	-16.6554	5.5774	0.17231	0.5398:0.0:0.4602:0.0	.	131	Q8IUE1	TF2LX_HUMAN	L	131	ENSP00000355119:H131L	.	H	+	2	0	TGIF2LX	89064132	0.268000	0.24133	0.000000	0.03702	0.002000	0.02628	2.652000	0.46682	-0.015000	0.14150	0.417000	0.27973	CAT		PASS	0.567	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		13	113	13	113	---	---	---	---
ARMCX3	51566	broad.mit.edu	37	X	100880489	100880489	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:100880489A>T	ENST00000341189.4	+	5	1386	c.520A>T	c.(520-522)Act>Tct	p.T174S	ARMCX3_ENST00000471229.2_Missense_Mutation_p.T174S|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_Missense_Mutation_p.T174S	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	174					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)		p.T174S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GATTCTCAATACTCGGGATCC	0.393																																						uc004ehz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(520-522)ACT>TCT		armadillo repeat containing, X-linked 3							90.0	90.0	90.0					X																	100880489		2203	4300	6503	SO:0001583	missense	51566					integral to membrane	binding	g.chrX:100880489A>T	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.520A>T	X.37:g.100880489A>T	ENSP00000340672:p.Thr174Ser					ARMCX3_uc004eia.1_Missense_Mutation_p.T174S|ARMCX3_uc004eib.1_Missense_Mutation_p.T174S|ARMCX3_uc004eic.1_Missense_Mutation_p.T174S	p.T174S	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN			5	1053	+			174			ARM 2.		Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	ENST00000341189.4	37	c.520A>T	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	A	2.555	-0.303156	0.05495	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.40476	1.03;1.03	4.29	3.14	0.36123	Armadillo-like helical (1);Armadillo-type fold (1);	0.089585	0.85682	D	0.000000	T	0.26521	0.0648	L	0.28192	0.835	0.24878	N	0.992241	B	0.20988	0.05	B	0.28385	0.089	T	0.15752	-1.0426	9	.	.	.	-21.4094	5.5087	0.16868	0.876:0.0:0.124:0.0	.	174	Q9UH62	ARMX3_HUMAN	S	174	ENSP00000340672:T174S;ENSP00000439032:T174S	.	T	+	1	0	ARMCX3	100767145	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	0.963000	0.29293	0.799000	0.34018	0.430000	0.28490	ACT		PASS	0.393	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		26	256	26	256	---	---	---	---
ZMAT1	84460	broad.mit.edu	37	X	101138538	101138538	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:101138538C>G	ENST00000372782.3	-	7	1908	c.1861G>C	c.(1861-1863)Gtt>Ctt	p.V621L	ZMAT1_ENST00000540921.1_Missense_Mutation_p.V621L|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.V450L	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	621						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V621L(1)|p.V450L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTTTCTTCAACAGATTTCTTT	0.358																																						uc004eim.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1348-1350)GTT>CTT		zinc finger, matrin type 1 isoform 3							103.0	91.0	95.0					X																	101138538		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138538C>G	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1861G>C	X.37:g.101138538C>G	ENSP00000361868:p.Val621Leu					ZMAT1_uc011mrl.1_Missense_Mutation_p.V621L|ZMAT1_uc004ein.2_Missense_Mutation_p.V450L|ZMAT1_uc011mrm.1_Missense_Mutation_p.V450L	p.V450L	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4846	-			450					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1348G>C	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	8.612	0.889271	0.17540	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.26810	2.29;2.29;1.71	4.27	3.41	0.39046	.	0.812302	0.10332	N	0.687446	T	0.24928	0.0605	L	0.51422	1.61	0.09310	N	1	B	0.22346	0.068	B	0.20577	0.03	T	0.17776	-1.0358	10	0.49607	T	0.09	-0.2662	9.2255	0.37405	0.0:0.8897:0.0:0.1103	.	621	Q5H9K5	ZMAT1_HUMAN	L	621;621;450	ENSP00000361868:V621L;ENSP00000437529:V621L;ENSP00000413044:V450L	ENSP00000361868:V621L	V	-	1	0	ZMAT1	101025194	0.001000	0.12720	0.375000	0.26029	0.897000	0.52465	1.244000	0.32778	1.137000	0.42214	0.600000	0.82982	GTT		PASS	0.358	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			25	178	25	178	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694590	109694590	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:109694590G>C	ENST00000465301.2	+	3	991	c.745G>C	c.(745-747)Gct>Cct	p.A249P	RGAG1_ENST00000540313.1_Missense_Mutation_p.A249P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	249								p.A249P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCTAATGACTGCTCTAGCCTC	0.488																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(745-747)GCT>CCT		retrotransposon gag domain containing 1							118.0	107.0	111.0					X																	109694590		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694590G>C	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.745G>C	X.37:g.109694590G>C	ENSP00000419786:p.Ala249Pro					RGAG1_uc011msr.1_Missense_Mutation_p.A249P	p.A249P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	991	+			249					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.745G>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102902	0.56183	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.60672	0.17;0.17	4.02	4.02	0.46733	.	0.000000	0.36034	N	0.002824	T	0.57315	0.2045	N	0.19112	0.55	0.31319	N	0.686224	D	0.89917	1.0	D	0.91635	0.999	T	0.57359	-0.7825	9	.	.	.	-9.8772	8.8091	0.34956	0.0:0.2251:0.7749:0.0	.	249	Q8NET4	RGAG1_HUMAN	P	249	ENSP00000419786:A249P;ENSP00000441452:A249P	.	A	+	1	0	RGAG1	109581246	0.999000	0.42202	0.987000	0.45799	0.892000	0.51952	5.114000	0.64648	2.238000	0.73509	0.600000	0.82982	GCT		PASS	0.488	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		19	151	19	151	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111025199	111025199	+	Missense_Mutation	SNP	G	G	T	rs373542762		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:111025199G>T	ENST00000262839.2	-	8	2982	c.2064C>A	c.(2062-2064)gaC>gaA	p.D688E		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	688					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.D688E(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCGTCTACCGTCAGGGTCTC	0.438																																						uc004epl.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(2062-2064)GAC>GAA		transient receptor potential cation channel,							124.0	119.0	121.0					X																	111025199		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111025199G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2064C>A	X.37:g.111025199G>T	ENSP00000262839:p.Asp688Glu					TRPC5_uc004epm.1_Missense_Mutation_p.D688E	p.D688E	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			8	2983	-			688			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2064C>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	4.080	0.012740	0.07912	.	.	ENSG00000072315	ENST00000262839	D	0.82081	-1.57	5.72	-2.28	0.06826	.	0.177737	0.48286	D	0.000199	T	0.50205	0.1602	N	0.04203	-0.255	0.37187	D	0.903744	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49428	-0.8941	10	0.02654	T	1	-4.7085	2.5018	0.04635	0.1893:0.1297:0.4289:0.2521	.	689;688	Q59G51;Q9UL62	.;TRPC5_HUMAN	E	688	ENSP00000262839:D688E	ENSP00000262839:D688E	D	-	3	2	TRPC5	110911855	0.942000	0.31987	0.999000	0.59377	0.903000	0.53119	0.147000	0.16202	0.005000	0.14708	-0.364000	0.07487	GAC		PASS	0.438	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		45	218	45	218	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111195319	111195319	+	Silent	SNP	G	G	C	rs139867130		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:111195319G>C	ENST00000262839.2	-	2	1248	c.330C>G	c.(328-330)ggC>ggG	p.G110G		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	110					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.G110G(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTCCACAGCGCCCACCACTT	0.547																																						uc004epl.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)	1						c.(328-330)GGC>GGG		transient receptor potential cation channel,							124.0	113.0	117.0					X																	111195319		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195319G>C	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.330C>G	X.37:g.111195319G>C						TRPC5_uc004epm.1_Silent_p.G110G	p.G110G	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			2	1249	-			110			ANK 3.|Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.330C>G	CCDS14561.1																																																																																				PASS	0.547	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		44	196	44	196	---	---	---	---
KLHL13	90293	broad.mit.edu	37	X	117033294	117033294	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:117033294C>A	ENST00000262820.3	-	7	2454	c.1545G>T	c.(1543-1545)tgG>tgT	p.W515C	KLHL13_ENST00000541812.1_Missense_Mutation_p.W499C|KLHL13_ENST00000371876.1_Missense_Mutation_p.W464C|KLHL13_ENST00000469946.1_Missense_Mutation_p.W464C|KLHL13_ENST00000371878.1_Missense_Mutation_p.W464C|KLHL13_ENST00000540167.1_Missense_Mutation_p.W499C|KLHL13_ENST00000545703.1_Missense_Mutation_p.W473C|KLHL13_ENST00000539496.1_Missense_Mutation_p.W518C|KLHL13_ENST00000371882.1_Missense_Mutation_p.W464C	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	515					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.W515C(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTTCTGGATCCATTTGTCAG	0.413																																						uc004eql.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(1543-1545)TGG>TGT		kelch-like 13							207.0	198.0	201.0					X																	117033294		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033294C>A	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1545G>T	X.37:g.117033294C>A	ENSP00000262820:p.Trp515Cys					KLHL13_uc004eqk.2_Missense_Mutation_p.W464C|KLHL13_uc011mtn.1_Missense_Mutation_p.W355C|KLHL13_uc011mto.1_Missense_Mutation_p.W509C|KLHL13_uc011mtp.1_Missense_Mutation_p.W517C|KLHL13_uc004eqm.2_Missense_Mutation_p.W464C|KLHL13_uc011mtq.1_Missense_Mutation_p.W499C	p.W515C	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN			7	1607	-			515			Kelch 4.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1545G>T	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361918	0.61403	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	D;D;D;D;D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	5.03	5.03	0.67393	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.98466	4.24	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.97110	0.991;1.0;0.991;0.997	D	0.99387	1.0924	10	0.87932	D	0	.	17.4428	0.87569	0.0:1.0:0.0:0.0	.	499;518;509;515	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	C	464;464;464;464;499;499;518;515;473;464	ENSP00000360949:W464C;ENSP00000360943:W464C;ENSP00000360945:W464C;ENSP00000412640:W464C;ENSP00000444450:W499C;ENSP00000441029:W499C;ENSP00000443191:W518C;ENSP00000262820:W515C;ENSP00000440707:W473C;ENSP00000419803:W464C	ENSP00000262820:W515C	W	-	3	0	KLHL13	116917322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.302000	0.77476	0.600000	0.82982	TGG		PASS	0.413	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		107	542	107	542	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117815708	117815708	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:117815708G>T	ENST00000276202.7	+	51	5977	c.5914G>T	c.(5914-5916)Gct>Tct	p.A1972S	DOCK11_ENST00000276204.6_Missense_Mutation_p.A1972S	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1972	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1972S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGACAGCCAAGCTAGCAAGTA	0.363																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(5914-5916)GCT>TCT		dedicator of cytokinesis 11							154.0	144.0	148.0					X																	117815708		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117815708G>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5914G>T	X.37:g.117815708G>T	ENSP00000276202:p.Ala1972Ser					DOCK11_uc004eqq.2_Missense_Mutation_p.A1751S	p.A1972S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			51	5977	+			1972			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5914G>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884917	0.33255	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.17054	2.3;2.3	5.61	4.7	0.59300	.	0.467007	0.22009	N	0.065887	T	0.09905	0.0243	N	0.14661	0.345	0.25350	N	0.988872	B;B	0.09022	0.002;0.002	B;B	0.18263	0.021;0.021	T	0.26224	-1.0109	10	0.12766	T	0.61	-6.8062	12.1746	0.54178	0.0:0.0:0.7452:0.2548	.	1972;1972	A6NIW2;Q5JSL3	.;DOC11_HUMAN	S	1972	ENSP00000276204:A1972S;ENSP00000276202:A1972S	ENSP00000276202:A1972S	A	+	1	0	DOCK11	117699736	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.941000	0.40233	2.337000	0.79520	0.600000	0.82982	GCT		PASS	0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		19	195	19	195	---	---	---	---
ATP1B4	23439	broad.mit.edu	37	X	119500453	119500453	+	Missense_Mutation	SNP	C	C	A	rs147823363	byFrequency	TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:119500453C>A	ENST00000218008.3	+	2	194	c.137C>A	c.(136-138)aCg>aAg	p.T46K	ATP1B4_ENST00000361319.3_Missense_Mutation_p.T46K|ATP1B4_ENST00000539306.1_Missense_Mutation_p.T46K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	46	Glu-rich.				monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.T46K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GCTCGGGTGACGGTGGTGCCC	0.527																																						uc004esr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(136-138)ACG>AAG		ATPase, (Na+)/K+ transporting, beta 4							93.0	86.0	88.0					X																	119500453		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119500453C>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.137C>A	X.37:g.119500453C>A	ENSP00000218008:p.Thr46Lys					ATP1B4_uc004esq.2_Missense_Mutation_p.T46K|ATP1B4_uc011mtx.1_Missense_Mutation_p.T46K|ATP1B4_uc011mty.1_Missense_Mutation_p.T46K	p.T46K	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			2	221	+			46			Glu-rich.|Nuclear (Potential).		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.137C>A	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	C	2.918	-0.223895	0.06061	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.06608	3.28;3.28;3.28	5.51	1.09	0.20402	.	0.360375	0.31601	N	0.007374	T	0.01976	0.0062	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.09377	0.001;0.002;0.002;0.004	T	0.41556	-0.9502	10	0.06625	T	0.88	-12.2609	0.3241	0.00308	0.2003:0.2523:0.174:0.3734	.	46;46;46;46	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	K	46	ENSP00000218008:T46K;ENSP00000355346:T46K;ENSP00000443334:T46K	ENSP00000218008:T46K	T	+	2	0	ATP1B4	119384481	0.987000	0.35691	0.120000	0.21714	0.172000	0.22775	0.174000	0.16743	0.274000	0.22072	-0.376000	0.06991	ACG		PASS	0.527	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		9	102	9	102	---	---	---	---
PHF6	84295	broad.mit.edu	37	X	133549058	133549058	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:133549058G>T	ENST00000332070.3	+	8	944	c.742G>T	c.(742-744)Ggc>Tgc	p.G248C	PHF6_ENST00000416404.2_Missense_Mutation_p.G214C|PHF6_ENST00000370803.3_Missense_Mutation_p.G248C|PHF6_ENST00000370799.1_Missense_Mutation_p.G249C|PHF6_ENST00000394292.1_Missense_Mutation_p.G249C|PHF6_ENST00000370800.4_Missense_Mutation_p.G249C	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	248	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.G248C(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					GTTTTCTTCTGGCACAGTCCA	0.328			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	uc004exj.2				Rec	yes		X	Xq26.3	84295		PHD finger protein 6			L					2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(742-744)GGC>TGC		PHD finger protein 6 isoform 1							40.0	40.0	40.0					X																	133549058		2202	4296	6498	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133549058G>T	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.742G>T	X.37:g.133549058G>T	ENSP00000329097:p.Gly248Cys					PHF6_uc004exk.2_Missense_Mutation_p.G248C|PHF6_uc011mvk.1_Missense_Mutation_p.G214C|PHF6_uc004exh.2_Missense_Mutation_p.G249C|PHF6_uc010nrr.2_Missense_Mutation_p.G248C|PHF6_uc004exi.2_Missense_Mutation_p.G249C	p.G248C	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN			8	944	+	Acute lymphoblastic leukemia(192;0.000127)		248					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.742G>T	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471484	0.84533	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	T;T;T;T;T;D	0.92699	-0.62;-0.62;-0.62;-0.62;-0.62;-3.09	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.95683	0.8596	M	0.69823	2.125	0.80722	D	1	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	0.95854	0.8877	10	0.62326	D	0.03	-8.0455	17.4048	0.87470	0.0:0.0:1.0:0.0	.	214;248;248;249;249	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	C	248;248;249;249;214;249	ENSP00000359839:G248C;ENSP00000329097:G248C;ENSP00000377831:G249C;ENSP00000359835:G249C;ENSP00000394480:G214C;ENSP00000359836:G249C	ENSP00000329097:G248C	G	+	1	0	PHF6	133376724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.410000	0.81850	0.594000	0.82650	GGC		PASS	0.328	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		13	96	13	96	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134991916	134991916	+	Silent	SNP	G	G	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:134991916G>A	ENST00000370709.3	+	13	1701	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	SAGE1_ENST00000537770.1_Silent_p.P191P|SAGE1_ENST00000535938.1_Silent_p.P567P|SAGE1_ENST00000324447.3_Silent_p.P567P			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	567						nucleus (GO:0005634)		p.P567P(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTGGTATTCCGGCCATGAGTA	0.418													g|||	1	0.000264901	0.0	0.0	3775	,	,		16403	0.0		0.0	False		,,,				2504	0.001					uc004ezh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1699-1701)CCG>CCA		sarcoma antigen 1							147.0	126.0	133.0					X																	134991916		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134991916G>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1701G>A	X.37:g.134991916G>A						SAGE1_uc010nry.1_Silent_p.P536P|SAGE1_uc011mvv.1_Silent_p.P191P	p.P567P	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			14	1868	+	Acute lymphoblastic leukemia(192;0.000127)		567					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.1701G>A	CCDS14652.1																																																																																				PASS	0.418	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		31	267	31	267	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135430018	135430018	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:135430018G>T	ENST00000394143.1	+	6	4444	c.4153G>T	c.(4153-4155)Gcc>Tcc	p.A1385S	GPR112_ENST00000287534.4_Missense_Mutation_p.A1322S|GPR112_ENST00000412101.1_Missense_Mutation_p.A1180S|GPR112_ENST00000370652.1_Missense_Mutation_p.A1385S|GPR112_ENST00000394141.1_Missense_Mutation_p.A1180S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1385					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A1385S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGCACGAGTGCCCTTCCAGC	0.448																																						uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(4153-4155)GCC>TCC		G-protein coupled receptor 112							175.0	164.0	168.0					X																	135430018		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430018G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4153G>T	X.37:g.135430018G>T	ENSP00000377699:p.Ala1385Ser					GPR112_uc010nsb.1_Missense_Mutation_p.A1180S|GPR112_uc010nsc.1_Missense_Mutation_p.A1152S	p.A1385S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	4444	+	Acute lymphoblastic leukemia(192;0.000127)		1385			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4153G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	4.567	0.105349	0.08731	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.33438	1.45;1.45;1.41;1.54;1.41	2.93	1.06	0.20224	.	.	.	.	.	T	0.20618	0.0496	L	0.32530	0.975	0.09310	N	1	P;P;B	0.36909	0.573;0.573;0.437	B;B;B	0.35278	0.199;0.199;0.098	T	0.14559	-1.0468	9	0.72032	D	0.01	.	5.4477	0.16546	0.3154:0.0:0.6846:0.0	.	1322;1180;1385	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	1385;1385;1180;1322;1180	ENSP00000377699:A1385S;ENSP00000359686:A1385S;ENSP00000416526:A1180S;ENSP00000287534:A1322S;ENSP00000377697:A1180S	ENSP00000287534:A1322S	A	+	1	0	GPR112	135257684	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	0.018000	0.13422	0.013000	0.14918	0.519000	0.50382	GCC		PASS	0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			33	345	33	345	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038712	139038712	+	Silent	SNP	T	T	C			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:139038712T>C	ENST00000370540.1	-	3	452	c.429A>G	c.(427-429)ctA>ctG	p.L143L		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	143	Ser-rich.					integral component of membrane (GO:0016021)		p.L143L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ATGGCTTTTGTAGACTTGAGG	0.413																																						uc004fbb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)CTA>CTG		hypothetical protein LOC347487 precursor							295.0	251.0	266.0					X																	139038712		2203	4300	6503	SO:0001819	synonymous_variant	347487					integral to membrane		g.chrX:139038712T>C		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.429A>G	X.37:g.139038712T>C							p.L143L	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	451	-			143			Ser-rich.|Cytoplasmic (Potential).			Silent	SNP	ENST00000370540.1	37	c.429A>G	CCDS35411.1																																																																																				PASS	0.413	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		62	544	62	544	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994934	140994934	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:140994934C>G	ENST00000285879.4	+	4	2030	c.1744C>G	c.(1744-1746)Cag>Gag	p.Q582E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	582								p.Q582E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTTTCCTCAGAGCCCTCA	0.592										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1744-1746)CAG>GAG		melanoma antigen family C, 1							236.0	254.0	248.0					X																	140994934		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994934C>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1744C>G	X.37:g.140994934C>G	ENSP00000285879:p.Gln582Glu	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.Q582E	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2030	+	Acute lymphoblastic leukemia(192;6.56e-05)		582					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1744C>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	10.51	1.369988	0.24771	.	.	ENSG00000155495	ENST00000285879	T	0.02050	4.48	0.92	-1.84	0.07809	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	P	0.34587	0.458	P	0.48654	0.585	T	0.50524	-0.8818	9	0.30078	T	0.28	.	2.222	0.03974	0.3222:0.3523:0.3254:0.0	.	582	O60732	MAGC1_HUMAN	E	582	ENSP00000285879:Q582E	ENSP00000285879:Q582E	Q	+	1	0	MAGEC1	140822600	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	0.697000	0.25556	0.179000	0.19938	0.181000	0.17075	CAG		PASS	0.592	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		160	738	160	738	---	---	---	---
TMEM185A	84548	broad.mit.edu	37	X	148685689	148685690	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:148685689_148685690GG>TT	ENST00000316916.8	-	4	774_775	c.470_471CC>AA	c.(469-471)gCC>gAA	p.A157E	TMEM185A_ENST00000507237.1_Missense_Mutation_p.A157E|TMEM185A_ENST00000536359.1_Missense_Mutation_p.A98E	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	157						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.A157E(1)|p.A157D(1)|p.A157A(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAGTCTTAAGGCAATGAATAT	0.292																																						uc011mxq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(469-471)GCC>GCA|c.(469-471)GCC>GAC		transmembrane protein 185A																																				SO:0001583	missense	84548					integral to membrane		g.chrX:148685689G>T|g.chrX:148685690G>T	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.470_471delinsTT	X.37:g.148685689_148685690delinsTT	ENSP00000359449:p.Ala157Glu					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Silent_p.A98A|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Silent_p.A74A|HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.A98D|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.A74D	p.A157A|p.A157D	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN			5	782|781	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		157			Helical; (Potential).		B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Silent|Missense_Mutation	SNP	ENST00000316916.8	37	c.471C>A|c.470C>A	CCDS14689.1																																																																																				PASS	0.292	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		5	96	5	96	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150909321	150909321	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:150909321C>A	ENST00000329903.4	+	4	463	c.430C>A	c.(430-432)Cta>Ata	p.L144I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	144					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L144I(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTGCTGGCTATTTGTCAT	0.552																																						uc004fey.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(430-432)CTA>ATA		cyclic nucleotide gated channel alpha 2							210.0	180.0	190.0					X																	150909321		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150909321C>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.430C>A	X.37:g.150909321C>A	ENSP00000328478:p.Leu144Ile						p.L144I	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			5	654	+	Acute lymphoblastic leukemia(192;6.56e-05)		144			Helical; Name=H1; (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.430C>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545761	0.65198	.	.	ENSG00000183862	ENST00000329903	D	0.97505	-4.41	5.44	3.64	0.41730	.	0.000000	0.64402	D	0.000001	D	0.97914	0.9314	M	0.82823	2.61	0.41008	D	0.984989	D	0.69078	0.997	D	0.78314	0.991	D	0.97127	0.9815	10	0.87932	D	0	.	6.645	0.22931	0.0:0.6921:0.0:0.3079	.	144	Q16280	CNGA2_HUMAN	I	144	ENSP00000328478:L144I	ENSP00000328478:L144I	L	+	1	2	CNGA2	150659977	1.000000	0.71417	0.949000	0.38748	0.945000	0.59286	1.844000	0.39269	0.466000	0.27193	0.544000	0.68410	CTA		PASS	0.552	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		35	304	35	304	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092696	151092696	+	Missense_Mutation	SNP	A	A	G	rs199657597		TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:151092696A>G	ENST00000360243.2	+	3	827	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	MAGEA4_ENST00000393920.1_Missense_Mutation_p.Y187C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.Y187C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.Y187C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.Y187C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.Y187C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.Y187C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	187	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Y187C(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTTTCCTATGATGGCCTG	0.542																																						uc004fez.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(559-561)TAT>TGT		melanoma antigen family A, 4		A	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	0,3835		0,0,1632,571	97.0	99.0	98.0		560,560,560,560	1.1	0.0	X		98	1,6727		0,1,2427,1872	no	missense,missense,missense,missense	MAGEA4	NM_001011548.1,NM_001011549.1,NM_001011550.1,NM_002362.4	194,194,194,194	0,1,4059,2443	GG,GA,AA,A		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	187/318,187/318,187/318,187/318	151092696	1,10562	2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092696A>G		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.560A>G	X.37:g.151092696A>G	ENSP00000353379:p.Tyr187Cys					MAGEA4_uc004ffa.2_Missense_Mutation_p.Y187C|MAGEA4_uc004ffb.2_Missense_Mutation_p.Y187C|MAGEA4_uc004ffc.2_Missense_Mutation_p.Y187C|MAGEA4_uc004ffd.2_Missense_Mutation_p.Y187C	p.Y187C	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	716	+	Acute lymphoblastic leukemia(192;6.56e-05)		187			MAGE.		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.560A>G	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359513	0.24598	0.0	1.49E-4	ENSG00000147381	ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51;3.51;3.51;3.51;3.51;3.51;3.51;3.51;3.51;3.51	2.37	1.15	0.20763	.	0.847525	0.10717	N	0.642147	T	0.10337	0.0253	L	0.41079	1.255	0.09310	N	1	D	0.62365	0.991	P	0.57776	0.827	T	0.27640	-1.0068	9	.	.	.	.	3.4497	0.07494	0.7588:0.0:0.2412:0.0	.	187	P43358	MAGA4_HUMAN	C	187	ENSP00000276344:Y187C;ENSP00000391904:Y187C;ENSP00000377498:Y187C;ENSP00000394149:Y187C;ENSP00000359362:Y187C;ENSP00000402624:Y187C;ENSP00000377497:Y187C;ENSP00000359365:Y187C;ENSP00000394073:Y187C;ENSP00000400900:Y187C;ENSP00000402186:Y187C;ENSP00000359360:Y187C;ENSP00000353379:Y187C;ENSP00000390096:Y187C	.	Y	+	2	0	MAGEA4	150843352	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	0.114000	0.15520	0.221000	0.20879	0.242000	0.17961	TAT		PASS	0.542	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		36	181	36	181	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151817747	151817747	+	Silent	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:151817747G>T	ENST00000370306.2	+	5	581	c.561G>T	c.(559-561)ctG>ctT	p.L187L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	187					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.L187L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|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)	CCCTGGATCTGCATAAATTCC	0.502																																						uc004ffp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(559-561)CTG>CTT		gamma-aminobutyric acid (GABA) receptor, theta							191.0	147.0	162.0					X																	151817747		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151817747G>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.561G>T	X.37:g.151817747G>T							p.L187L	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			5	581	+	Acute lymphoblastic leukemia(192;6.56e-05)		187			Extracellular (Potential).		A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.561G>T	CCDS14707.1																																																																																				PASS	0.502	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		16	215	16	215	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152087623	152087623	+	Silent	SNP	G	G	T			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:152087623G>T	ENST00000370268.4	+	7	565	c.528G>T	c.(526-528)cgG>cgT	p.R176R	ZNF185_ENST00000324823.6_Silent_p.R41R|ZNF185_ENST00000535861.1_Silent_p.R176R|ZNF185_ENST00000370270.2_Silent_p.R176R|ZNF185_ENST00000539731.1_Silent_p.R176R|ZNF185_ENST00000318504.7_Silent_p.R176R|ZNF185_ENST00000318529.8_Silent_p.R41R|ZNF185_ENST00000449285.2_Silent_p.R176R			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	176						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.R36R(1)|p.R176R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AACAGAAACGGAGGTAATGGA	0.552																																						uc010ntv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(526-528)CGG>CGT		zinc finger protein 185							52.0	51.0	51.0					X																	152087623		2005	4135	6140	SO:0001819	synonymous_variant	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087623G>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.528G>T	X.37:g.152087623G>T						ZNF185_uc011myg.1_Silent_p.R176R|ZNF185_uc011myh.1_Silent_p.R176R|ZNF185_uc011myi.1_Silent_p.R176R|ZNF185_uc011myj.1_Silent_p.R176R|ZNF185_uc011myk.1_Silent_p.R176R|ZNF185_uc004fgw.3_Silent_p.R41R|ZNF185_uc004fgu.2_5'UTR|ZNF185_uc004fgv.2_5'Flank	p.R176R	NM_007150	NP_009081	O15231	ZN185_HUMAN			7	565	+	Acute lymphoblastic leukemia(192;6.56e-05)		176					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Silent	SNP	ENST00000370268.4	37	c.528G>T	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	G	9.639	1.138352	0.21123	.	.	ENSG00000147394	ENST00000426821	.	.	.	4.83	1.97	0.26223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.5807	4.8702	0.13629	0.2088:0.1731:0.6181:0.0	.	.	.	.	X	27	.	.	E	+	1	0	ZNF185	151838279	1.000000	0.71417	0.999000	0.59377	0.436000	0.31835	0.766000	0.26560	0.151000	0.19162	0.529000	0.55759	GAG		PASS	0.552	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		4	30	4	30	---	---	---	---
DNASE1L1	1774	broad.mit.edu	37	X	153631282	153631283	+	Splice_Site	DNP	CC	CC	AA			TCGA-60-2720-01A-01D-1522-08	TCGA-60-2720-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b435ddf-a496-40a2-82e8-6b10391aae5d	9ac07c1e-f5e7-48e8-a58b-3e2ac5c68324	g.chrX:153631282_153631283CC>AA	ENST00000393638.1	-	7	1060_1061	c.774_775GG>TT	c.(772-777)gaGGcc>gaTTcc	p.258_259EA>DS	DNASE1L1_ENST00000369809.1_Splice_Site_p.258_259EA>DS|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	258					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)	p.?(2)|p.E258D(1)		lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCCCTTCACCTCCTCCTCGG	0.678																																						uc004fks.1																			3	Unknown(2)|Substitution - Missense(1)		lung(3)		0						c.e7+1|c.(772-774)GAG>GAT		deoxyribonuclease I-like 1 precursor																																				SO:0001630	splice_region_variant	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153631282C>A|g.chrX:153631283C>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.774_775delinsAA	X.37:g.153631282_153631283delinsAA						RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Splice_Site_p.E258_splice|DNASE1L1_uc004fku.1_Splice_Site_p.E258_splice|DNASE1L1_uc004fkv.1_Splice_Site_p.E258_splice|DNASE1L1_uc004fkw.1_Splice_Site_p.E258_splice|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Missense_Mutation_p.E258D|DNASE1L1_uc004fku.1_Missense_Mutation_p.E258D|DNASE1L1_uc004fkv.1_Missense_Mutation_p.E258D|DNASE1L1_uc004fkw.1_Missense_Mutation_p.E258D	p.E258_splice|p.E258D	NM_006730	NP_006721	P49184	DNSL1_HUMAN			7	965	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		|258					D3DWW7|Q5HY41	Splice_Site|Missense_Mutation	SNP	ENST00000393638.1	37	c.774_splice|c.774G>T	CCDS14747.1																																																																																				PASS	0.678	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2		Missense_Mutation	9	87	9	87	---	---	---	---
