#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
MEGF6	1953	broad.mit.edu	37	1	3512012	3512012	+	Splice_Site	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:3512012C>A	ENST00000356575.4	-	3	493		c.e3-1			NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.?(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTAGACGGTTCTAGAAAGAAA	0.617																																					Ovarian(73;978 3658)	uc001akl.2																			1	Unknown(1)		lung(1)	large_intestine(1)	1						c.e3-1		EGF-like-domain, multiple 3 precursor							34.0	40.0	38.0					1																	3512012		2033	4186	6219	SO:0001630	splice_region_variant	1953					extracellular region	calcium ion binding	g.chr1:3512012C>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.267-1G>T	1.37:g.3512012C>A							p.R89_splice	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	3	494	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)						Q4AC86|Q5VV39	Splice_Site	SNP	ENST00000356575.4	37	c.267_splice	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.523386	0.27299	.	.	ENSG00000162591	ENST00000356575	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9836	0.53133	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEGF6	3501872	1.000000	0.71417	0.868000	0.34077	0.056000	0.15407	4.845000	0.62853	2.091000	0.63221	0.486000	0.48141	.		PASS	0.617	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	Intron	19	55	19	55	---	---	---	---
ACOT7	11332	broad.mit.edu	37	1	6387379	6387379	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:6387379A>G	ENST00000377855.2	-	5	781	c.635T>C	c.(634-636)gTc>gCc	p.V212A	ACOT7_ENST00000608083.1_Missense_Mutation_p.V170A|ACOT7_ENST00000361521.4_Missense_Mutation_p.V202A|ACOT7_ENST00000377845.3_Missense_Mutation_p.V182A|ACOT7_ENST00000545482.1_Missense_Mutation_p.V97A|ACOT7_ENST00000377842.3_Missense_Mutation_p.V161A|ACOT7_ENST00000541130.1_Missense_Mutation_p.V182A	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	212					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)	p.V202A(3)|p.V161A(2)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GACTGGCTGGACGATGTCCCC	0.652																																					GBM(74;673 1226 4974 11850 13190)	uc001ams.2																			5	Substitution - Missense(5)		lung(2)|kidney(2)|prostate(1)		0						c.(634-636)GTC>GCC		acyl-CoA thioesterase 7 isoform hBACHb							106.0	78.0	87.0					1																	6387379		2203	4300	6503	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6387379A>G	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.635T>C	1.37:g.6387379A>G	ENSP00000367086:p.Val212Ala					ACOT7_uc010nzq.1_Missense_Mutation_p.V97A|ACOT7_uc001amt.2_Missense_Mutation_p.V202A|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.V161A|ACOT7_uc001amr.2_Missense_Mutation_p.V182A	p.V212A	NM_181864	NP_863654	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	5	792	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	212					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.635T>C	CCDS65.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118323	0.56505	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482;ENST00000541130	T;T;T;T;T;T	0.43688	1.46;1.49;1.52;1.5;1.54;0.94	5.28	5.28	0.74379	.	0.428985	0.24664	N	0.036618	T	0.30355	0.0762	L	0.29908	0.895	0.34348	D	0.689552	B;B;B;B	0.21606	0.053;0.005;0.058;0.034	B;B;B;B	0.18561	0.014;0.008;0.022;0.022	T	0.34675	-0.9819	10	0.13108	T	0.6	.	14.0493	0.64725	1.0:0.0:0.0:0.0	.	202;212;182;161	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	A	212;182;161;202;97;182	ENSP00000367086:V212A;ENSP00000367076:V182A;ENSP00000367073:V161A;ENSP00000354615:V202A;ENSP00000439218:V97A;ENSP00000441872:V182A	ENSP00000354615:V202A	V	-	2	0	ACOT7	6309966	0.938000	0.31826	0.938000	0.37757	0.848000	0.48234	5.719000	0.68462	1.988000	0.58038	0.528000	0.53228	GTC		PASS	0.652	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		4	26	4	26	---	---	---	---
RERE	473	broad.mit.edu	37	1	8684379	8684379	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:8684379T>A	ENST00000337907.3	-	4	1020	c.386A>T	c.(385-387)gAc>gTc	p.D129V	RERE_ENST00000400908.2_Missense_Mutation_p.D129V|RERE_ENST00000400907.2_Missense_Mutation_p.D129V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	129	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D129V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGTTTGAAGTCTTGAATGCT	0.383																																						uc001ape.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(385-387)GAC>GTC		atrophin-1 like protein isoform a							174.0	165.0	168.0					1																	8684379		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8684379T>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.386A>T	1.37:g.8684379T>A	ENSP00000338629:p.Asp129Val					RERE_uc001apf.2_Missense_Mutation_p.D129V|RERE_uc001aph.1_Missense_Mutation_p.D129V	p.D129V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	4	1196	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	129			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.386A>T	CCDS95.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.12|17.12	3.308235|3.308235	0.60305|0.60305	.|.	.|.	ENSG00000142599|ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908|ENST00000514428	D;D;D|.	0.85955|.	-2.05;-2.05;-2.05|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Bromo adjacent homology (BAH) domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.52581|0.52581	0.1743|0.1743	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.49495|0.49495	-0.8934|-0.8934	9|5	0.87932|.	D|.	0|.	-24.7115|-24.7115	15.3794|15.3794	0.74641|0.74641	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	129|.	Q9P2R6|.	RERE_HUMAN|.	V|S	129|21	ENSP00000338629:D129V;ENSP00000383699:D129V;ENSP00000383700:D129V|.	ENSP00000338629:D129V|.	D|T	-|-	2|1	0|0	RERE|RERE	8606966|8606966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.337000|7.337000	0.79256|0.79256	2.284000|2.284000	0.76573|0.76573	0.528000|0.528000	0.53228|0.53228	GAC|ACT		PASS	0.383	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			75	168	75	168	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12414036	12414036	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:12414036G>T	ENST00000358136.3	+	47	9567	c.9437G>T	c.(9436-9438)tGt>tTt	p.C3146F	VPS13D_ENST00000356315.4_Missense_Mutation_p.C3121F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.C3146F(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATAGGTTTTGTGTGGCTATA	0.313																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(9436-9438)TGT>TTT		vacuolar protein sorting 13D isoform 1							56.0	54.0	55.0					1																	12414036		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12414036G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9437G>T	1.37:g.12414036G>T	ENSP00000350854:p.Cys3146Phe					VPS13D_uc001atw.2_Missense_Mutation_p.C3121F|VPS13D_uc001atx.2_Missense_Mutation_p.C2333F	p.C3146F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	47	9578	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3145						Missense_Mutation	SNP	ENST00000358136.3	37	c.9437G>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.582484|4.582484	0.86748|0.86748	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.57273|.	0.41;0.41|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72779|0.72779	0.3503|0.3503	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;P|.	0.67145|.	0.996;0.777|.	D;B|.	0.70227|.	0.968;0.385|.	T|T	0.66779|0.66779	-0.5837|-0.5837	10|5	0.39692|.	T|.	0.17|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3121;3145|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	F|L	3121;3146|1968	ENSP00000348666:C3121F;ENSP00000350854:C3146F|.	ENSP00000348666:C3121F|.	C|V	+|+	2|1	0|0	VPS13D|VPS13D	12336623|12336623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.420000|9.420000	0.97426|0.97426	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	TGT|GTG		PASS	0.313	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		30	70	30	70	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	17948358	17948358	+	Splice_Site	SNP	G	G	T	rs555835738		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:17948358G>T	ENST00000361221.3	+	11	1101		c.e11-1		ARHGEF10L_ENST00000375420.3_Splice_Site|ARHGEF10L_ENST00000167825.4_Splice_Site|ARHGEF10L_ENST00000375408.3_Splice_Site|ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000469726.1_Splice_Site|ARHGEF10L_ENST00000434513.1_Splice_Site	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like							cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGCCCGAGCAGGTGGTCCGGA	0.582																																						uc001ban.2																			2	Unknown(2)		lung(2)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.e11-1		Rho guanine nucleotide exchange factor (GEF)							103.0	97.0	99.0					1																	17948358		2203	4300	6503	SO:0001630	splice_region_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17948358G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.943-1G>T	1.37:g.17948358G>T						ARHGEF10L_uc009vpe.1_Splice_Site_p.V276_splice|ARHGEF10L_uc001bao.2_Splice_Site_p.V276_splice|ARHGEF10L_uc001bap.2_Splice_Site_p.V276_splice|ARHGEF10L_uc010ocr.1_Splice_Site_p.V73_splice|ARHGEF10L_uc001baq.2_Splice_Site_p.V81_splice|ARHGEF10L_uc010ocs.1_Splice_Site_p.V93_splice|ARHGEF10L_uc001bar.2_Splice_Site_p.V93_splice	p.V315_splice	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	11	1102	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Splice_Site	SNP	ENST00000361221.3	37	c.943_splice	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949581	0.73787	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0479	0.86509	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF10L	17820945	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.056000	0.93881	2.370000	0.80446	0.561000	0.74099	.		PASS	0.582	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	Intron	41	183	41	183	---	---	---	---
RHBDL2	54933	broad.mit.edu	37	1	39384712	39384712	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:39384712G>A	ENST00000289248.2	-	2	1181	c.173C>T	c.(172-174)tCc>tTc	p.S58F	RHBDL2_ENST00000372985.3_Missense_Mutation_p.S138F|RHBDL2_ENST00000372990.1_Missense_Mutation_p.S58F|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000540558.1_Missense_Mutation_p.S58F|RHBDL2_ENST00000538156.1_Missense_Mutation_p.S125F			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.S58F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TGTTCCTCGGGACTTTTCGGG	0.552																																						uc001ccu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)TCC>TTC		rhomboid protease 2							212.0	197.0	202.0					1																	39384712		2203	4300	6503	SO:0001583	missense	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39384712G>A	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.173C>T	1.37:g.39384712G>A	ENSP00000289248:p.Ser58Phe					RHBDL2_uc010oin.1_Missense_Mutation_p.S58F|RHBDL2_uc010oio.1_Missense_Mutation_p.S138F|RHBDL2_uc001ccv.2_Missense_Mutation_p.S58F	p.S58F	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	401	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	58					B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	ENST00000289248.2	37	c.173C>T	CCDS30680.1	.	.	.	.	.	.	.	.	.	.	G	7.081	0.570323	0.13560	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985;ENST00000540558	T;T;T;T	0.33216	1.47;1.47;1.43;1.42	5.73	-4.2	0.03823	.	2.668420	0.00907	N	0.002431	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19073	0.016;0.033;0.005	B;B;B	0.23018	0.003;0.043;0.001	T	0.10776	-1.0615	10	0.51188	T	0.08	-23.5482	1.2606	0.02001	0.3622:0.1044:0.3242:0.2092	.	138;125;58	B7Z1Y9;B3KUN4;Q9NX52	.;.;RHBL2_HUMAN	F	58;58;125;138;58	ENSP00000362081:S58F;ENSP00000289248:S58F;ENSP00000439227:S125F;ENSP00000362076:S138F	ENSP00000289248:S58F	S	-	2	0	RHBDL2	39157299	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.291000	0.08343	-1.289000	0.02375	-0.304000	0.09214	TCC		PASS	0.552	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1	NM_017821		72	132	72	132	---	---	---	---
HYI	81888	broad.mit.edu	37	1	43915782	43915782	+	IGR	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:43915782G>A	ENST00000372425.4	-	0	1115				SZT2_ENST00000372442.1_Silent_p.L2466L|SZT2_ENST00000562955.1_Silent_p.L3308L|SZT2-AS1_ENST00000396885.2_RNA			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)	p.L2466L(2)|p.L3308L(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGTTGTGCTGAATCAGAAGT	0.542																																						uc001cjk.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(7396-7398)CTG>CTA		hypothetical protein LOC23334							275.0	219.0	238.0					1																	43915782		2203	4300	6503	SO:0001628	intergenic_variant	23334					peroxisome		g.chr1:43915782G>A		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43915782G>A						KIAA0467_uc001cjl.1_Silent_p.L454L	p.L2466L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			56	7860	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	3365					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Silent	SNP	ENST00000372425.4	37	c.7398G>A	CCDS53309.1																																																																																				PASS	0.542	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		6	120	6	120	---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52828404	52828404	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:52828404C>G	ENST00000371586.2	-	3	222	c.84G>C	c.(82-84)atG>atC	p.M28I	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'Flank|CC2D1B_ENST00000284376.3_Missense_Mutation_p.M28I	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	28						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.M28I(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCAAACTCCATAAAGAGCC	0.572																																						uc001ctq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(82-84)ATG>ATC		coiled-coil and C2 domain containing 1B							120.0	121.0	121.0					1																	52828404		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52828404C>G	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.84G>C	1.37:g.52828404C>G	ENSP00000360642:p.Met28Ile					CC2D1B_uc001cts.2_5'Flank	p.M28I	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			3	222	-			28					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.84G>C	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397196	0.42512	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371575	T;T	0.20069	2.1;2.1	4.85	3.89	0.44902	.	0.151867	0.42172	D	0.000759	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09250	-1.0683	10	0.56958	D	0.05	-8.6238	6.1202	0.20150	0.1869:0.718:0.0:0.0951	.	28	Q5T0F9	C2D1B_HUMAN	I	28	ENSP00000360642:M28I;ENSP00000284376:M28I	ENSP00000284376:M28I	M	-	3	0	CC2D1B	52600992	0.956000	0.32656	1.000000	0.80357	0.921000	0.55340	-0.043000	0.12043	2.505000	0.84491	0.655000	0.94253	ATG		PASS	0.572	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		52	172	52	172	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57480937	57480937	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:57480937G>A	ENST00000371231.1	-	13	1196	c.1162C>T	c.(1162-1164)Cca>Tca	p.P388S	DAB1_ENST00000371234.4_Missense_Mutation_p.P355S|DAB1_ENST00000371236.2_Missense_Mutation_p.P355S|DAB1_ENST00000439789.2_Missense_Mutation_p.P269S|DAB1_ENST00000420954.2_Missense_Mutation_p.P353S|DAB1_ENST00000414851.2_Missense_Mutation_p.P337S|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	388					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.P355S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCCACAGTTGGCCAGGGCTGC	0.652																																						uc001cys.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1063-1065)CCA>TCA		disabled homolog 1							63.0	61.0	62.0					1																	57480937		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480937G>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1162C>T	1.37:g.57480937G>A	ENSP00000360275:p.Pro388Ser					DAB1_uc001cyt.1_Missense_Mutation_p.P353S|DAB1_uc001cyq.1_Missense_Mutation_p.P353S|DAB1_uc001cyr.1_Missense_Mutation_p.P269S|DAB1_uc009vzw.1_Missense_Mutation_p.P337S|DAB1_uc009vzx.1_Missense_Mutation_p.P355S	p.P355S	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1737	-			388					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1063C>T		.	.	.	.	.	.	.	.	.	.	G	15.45	2.836910	0.50951	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.57436	0.5;0.5;0.4;0.52;1.61;0.45	5.54	5.54	0.83059	.	0.098404	0.64402	D	0.000001	T	0.48840	0.1522	L	0.34521	1.04	0.58432	D	0.999999	B;B;P;P;B	0.45715	0.057;0.087;0.51;0.865;0.231	B;B;B;B;B	0.42555	0.068;0.06;0.311;0.391;0.157	T	0.51132	-0.8744	10	0.56958	D	0.05	-25.3785	19.6787	0.95950	0.0:0.0:1.0:0.0	.	337;388;355;269;353	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	S	355;355;355;353;337;269;388	ENSP00000360280:P355S;ENSP00000360278:P355S;ENSP00000395296:P353S;ENSP00000387581:P337S;ENSP00000409328:P269S;ENSP00000360275:P388S	ENSP00000360275:P388S	P	-	1	0	DAB1	57253525	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.729000	0.74775	2.890000	0.99128	0.650000	0.86243	CCA		PASS	0.652	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		47	86	47	86	---	---	---	---
CDC7	8317	broad.mit.edu	37	1	91989991	91989991	+	Nonstop_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:91989991G>T	ENST00000428239.1	+	12	1983	c.1724G>T	c.(1723-1725)tGa>tTa	p.*575L	CDC7_ENST00000234626.6_Nonstop_Mutation_p.*575L|CDC7_ENST00000430031.2_Nonstop_Mutation_p.*547L	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	0					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.*575L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ATGAGCTTGTGATAATGGATC	0.328																																						uc001doe.2																			1	Nonstop extension(1)		lung(1)	stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5						c.(1723-1725)TGA>TTA		cell division cycle 7							76.0	79.0	78.0					1																	91989991		2167	4282	6449	SO:0001578	stop_lost	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91989991G>T	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1724G>T	1.37:g.91989991G>T	ENSP00000393139:p.*575Leuext*1					CDC7_uc001dof.2_Nonstop_Mutation_p.*575L|CDC7_uc010osw.1_Nonstop_Mutation_p.*547L|CDC7_uc009wdc.2_Nonstop_Mutation_p.*575L|CDC7_uc009wdd.2_Nonstop_Mutation_p.*218L	p.*575L	NM_003503	NP_003494	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	12	1889	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	575					D3DT31|O00558|Q5T5U5	Nonstop_Mutation	SNP	ENST00000428239.1	37	c.1724G>T	CCDS734.1	.	.	.	.	.	.	.	.	.	.	G	8.804	0.933545	0.18206	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	.	.	.	6.05	3.09	0.35607	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3136	0.43723	0.2124:0.0:0.7876:0.0	.	.	.	.	L	547;575;575	.	.	X	+	2	2	CDC7	91762579	1.000000	0.71417	0.004000	0.12327	0.222000	0.24845	2.055000	0.41345	0.392000	0.25172	-0.355000	0.07637	TGA		PASS	0.328	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		29	112	29	112	---	---	---	---
WNT2B	7482	broad.mit.edu	37	1	113059863	113059863	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:113059863C>T	ENST00000369684.4	+	4	1287	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	WNT2B_ENST00000369686.5_Missense_Mutation_p.R249C|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000256640.5_Missense_Mutation_p.R176C	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	268					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R268C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGCGGCGACGCTATGATGG	0.607																																						uc001ecb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(802-804)CGC>TGC		wingless-type MMTV integration site family,							64.0	55.0	58.0					1																	113059863		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113059863C>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.802C>T	1.37:g.113059863C>T	ENSP00000358698:p.Arg268Cys					WNT2B_uc001eca.2_Missense_Mutation_p.R249C|WNT2B_uc009wgg.2_Missense_Mutation_p.R176C	p.R268C	NM_024494	NP_078613	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1317	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	268					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.802C>T	CCDS847.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633409	0.87660	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.79033	-1.23;-1.23;-1.23	5.53	5.53	0.82687	.	0.049162	0.85682	D	0.000000	D	0.85261	0.5656	M	0.87269	2.87	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	P;P	0.61658	0.892;0.827	D	0.87713	0.2568	10	0.87932	D	0	.	12.383	0.55317	0.2786:0.7214:0.0:0.0	.	268;249	Q93097;Q93097-2	WNT2B_HUMAN;.	C	176;249;268	ENSP00000256640:R176C;ENSP00000358700:R249C;ENSP00000358698:R268C	ENSP00000256640:R176C	R	+	1	0	WNT2B	112861386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.664000	0.61540	2.599000	0.87857	0.555000	0.69702	CGC		PASS	0.607	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		32	73	32	73	---	---	---	---
GDAP2	54834	broad.mit.edu	37	1	118424471	118424471	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:118424471A>C	ENST00000369443.5	-	12	1525	c.1276T>G	c.(1276-1278)Ttt>Gtt	p.F426V	GDAP2_ENST00000464026.1_5'Flank|GDAP2_ENST00000369442.3_Missense_Mutation_p.F426V	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	426	CRAL-TRIO.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)		p.F426V(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GGATGTACAAAATAAACAGCC	0.313																																						uc001ehf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1276-1278)TTT>GTT		ganglioside induced differentiation associated							90.0	97.0	94.0					1																	118424471		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118424471A>C	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1276T>G	1.37:g.118424471A>C	ENSP00000358451:p.Phe426Val					GDAP2_uc001ehg.2_Missense_Mutation_p.F426V	p.F426V	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	12	1575	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	426			CRAL-TRIO.		Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.1276T>G	CCDS897.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720762	0.48728	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.58652	0.32;0.32	5.06	3.91	0.45181	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.12887	0.27	0.53688	D	0.999971	P;P	0.48503	0.627;0.911	B;P	0.49752	0.295;0.621	T	0.09952	-1.0651	10	0.07990	T	0.79	-11.1066	12.1763	0.54188	0.8567:0.1433:0.0:0.0	.	426;426	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	V	426	ENSP00000358451:F426V;ENSP00000358450:F426V	ENSP00000358450:F426V	F	-	1	0	GDAP2	118225994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.276000	0.72601	0.834000	0.34852	0.528000	0.53228	TTT		PASS	0.313	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		30	67	30	67	---	---	---	---
LCE3A	353142	broad.mit.edu	37	1	152595351	152595351	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:152595351C>A	ENST00000335674.1	-	1	228	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	77					keratinization (GO:0031424)			p.G77W(1)		endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTCCCGCCTTGCTGA	0.557																																						uc010pdt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GGG>TGG		late cornified envelope 3A							48.0	52.0	51.0					1																	152595351		2203	4300	6503	SO:0001583	missense	353142				keratinization			g.chr1:152595351C>A		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.229G>T	1.37:g.152595351C>A	ENSP00000335006:p.Gly77Trp						p.G77W	NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	229	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		77						Missense_Mutation	SNP	ENST00000335674.1	37	c.229G>T	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	C	4.734	0.136452	0.09032	.	.	ENSG00000185962	ENST00000335674	T	0.05513	3.43	3.63	1.7	0.24286	.	.	.	.	.	T	0.08313	0.0207	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.14727	-1.0462	8	0.56958	D	0.05	.	6.3831	0.21546	0.0:0.7624:0.0:0.2376	.	77	Q5TA76	LCE3A_HUMAN	W	77	ENSP00000335006:G77W	ENSP00000335006:G77W	G	-	1	0	LCE3A	150861975	0.003000	0.15002	0.017000	0.16124	0.083000	0.17756	0.251000	0.18257	0.321000	0.23259	-0.182000	0.12963	GGG		PASS	0.557	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431		48	79	48	79	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154033014	154033014	+	Splice_Site	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:154033014A>T	ENST00000368559.3	-	20	2922		c.e20+1		NUP210L_ENST00000271854.3_Splice_Site	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like						Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.?(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCTAGAGCTCACCTCAACAGA	0.423																																						uc001fdw.2																			1	Unknown(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.e20+1		nucleoporin 210kDa-like isoform 1							110.0	101.0	104.0					1																	154033014		1904	4140	6044	SO:0001630	splice_region_variant	91181					integral to membrane		g.chr1:154033014A>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2850+1T>A	1.37:g.154033014A>T						NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Splice_Site_p.E950_splice	p.E950_splice	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		20	2922	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)							E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Splice_Site	SNP	ENST00000368559.3	37	c.2850_splice	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784541	0.70222	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5793	0.56381	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP210L	152299638	1.000000	0.71417	0.985000	0.45067	0.724000	0.41520	6.752000	0.74898	2.161000	0.67846	0.533000	0.62120	.		PASS	0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	Intron	72	137	72	137	---	---	---	---
GBA	2629	broad.mit.edu	37	1	155209779	155209779	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:155209779T>G	ENST00000327247.5	-	4	437	c.205A>C	c.(205-207)Acc>Ccc	p.T69P	GBA_ENST00000536770.1_Intron|GBA_ENST00000427500.3_Missense_Mutation_p.T69P|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000368373.3_Missense_Mutation_p.T69P|GBA_ENST00000428024.3_5'UTR	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	69					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.T69P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GCAGGAAAGGTCGGGGGGTCA	0.602									Gaucher disease type I																													uc001fjh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(205-207)ACC>CCC		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						55.0	45.0	48.0					1																	155209779		2203	4300	6503	SO:0001583	missense	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155209779T>G	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.205A>C	1.37:g.155209779T>G	ENSP00000314508:p.Thr69Pro					RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Missense_Mutation_p.T69P|GBA_uc001fji.2_Missense_Mutation_p.T69P|GBA_uc001fjj.2_Missense_Mutation_p.T69P|GBA_uc001fjk.2_Missense_Mutation_p.T69P|GBA_uc001fjl.2_Missense_Mutation_p.T69P|GBA_uc010pfy.1_5'UTR|GBA_uc009wqk.1_Intron	p.T69P	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	355	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		69					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.205A>C	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	T	5.088	0.201864	0.09652	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536555;ENST00000402928	D;D;D	0.96200	-3.94;-3.94;-3.94	3.46	2.29	0.28610	.	0.255650	0.29916	N	0.010863	D	0.84437	0.5472	L	0.46157	1.445	0.24599	N	0.993784	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.0	T	0.75351	-0.3348	10	0.30078	T	0.28	.	5.5574	0.17123	0.0:0.1345:0.0:0.8655	.	69;69	B7Z5G2;P04062	.;GLCM_HUMAN	P	69;69;69;26;69	ENSP00000402577:T69P;ENSP00000357357:T69P;ENSP00000314508:T69P	ENSP00000314508:T69P	T	-	1	0	GBA	153476403	0.001000	0.12720	0.978000	0.43139	0.281000	0.26958	0.546000	0.23284	0.507000	0.28148	0.383000	0.25322	ACC		PASS	0.602	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		16	32	16	32	---	---	---	---
MEF2D	4209	broad.mit.edu	37	1	156450724	156450724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:156450724C>A	ENST00000348159.4	-	4	778	c.298G>T	c.(298-300)Gag>Tag	p.E100*	MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000464356.2_Intron|MEF2D_ENST00000340875.5_Intron|MEF2D_ENST00000368240.2_Nonsense_Mutation_p.E100*|MEF2D_ENST00000360595.3_Nonsense_Mutation_p.E100*	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	100					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E100*(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGTCGGGCTCGGGGCTGTCG	0.667											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fpc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(298-300)GAG>TAG		myocyte enhancer factor 2D							73.0	83.0	80.0					1																	156450724		2202	4299	6501	SO:0001587	stop_gained	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156450724C>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.298G>T	1.37:g.156450724C>A	ENSP00000271555:p.Glu100*		OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1778	MEF2D_uc001fpb.2_Nonsense_Mutation_p.E100*|MEF2D_uc001fpd.2_Nonsense_Mutation_p.E100*|MEF2D_uc001fpe.1_Nonsense_Mutation_p.E100*|MEF2D_uc009wsa.2_RNA	p.E100*	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			4	688	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		100					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Nonsense_Mutation	SNP	ENST00000348159.4	37	c.298G>T	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	42	9.583541	0.99211	.	.	ENSG00000116604	ENST00000348159;ENST00000368240;ENST00000360595;ENST00000541336	.	.	.	5.08	5.08	0.68730	.	0.094030	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.2741	17.4126	0.87491	0.0:1.0:0.0:0.0	.	.	.	.	X	100	.	ENSP00000271555:E100X	E	-	1	0	MEF2D	154717348	1.000000	0.71417	0.950000	0.38849	0.987000	0.75469	7.445000	0.80570	2.529000	0.85273	0.561000	0.74099	GAG		PASS	0.667	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		48	117	48	117	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171753323	171753323	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:171753323G>T	ENST00000361735.3	+	2	863	c.597G>T	c.(595-597)caG>caT	p.Q199H	METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Missense_Mutation_p.Q113H|METTL13_ENST00000458517.1_Missense_Mutation_p.Q198H	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	199							methyltransferase activity (GO:0008168)	p.Q199H(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGAGCCTCAGTTCTCCTTGC	0.582																																						uc001ghz.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(595-597)CAG>CAT		CGI-01 protein isoform 1							75.0	78.0	77.0					1																	171753323		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171753323G>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.597G>T	1.37:g.171753323G>T	ENSP00000354920:p.Gln199His					METTL13_uc001gia.2_Missense_Mutation_p.Q113H|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.Q198H	p.Q199H	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			2	944	+			199					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.597G>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714404	0.30413	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T	0.44083	2.24;1.52;2.24;0.93	5.18	0.869	0.19096	.	0.441828	0.25506	N	0.030216	T	0.13030	0.0316	N	0.14661	0.345	0.27151	N	0.961409	B;B	0.28026	0.0;0.198	B;B	0.29716	0.003;0.106	T	0.14448	-1.0472	10	0.44086	T	0.13	-22.5161	17.1294	0.86723	0.0:0.4837:0.5162:0.0	.	198;199	B4E2X3;Q8N6R0	.;MTL13_HUMAN	H	198;113;199;116;113	ENSP00000401955:Q198H;ENSP00000355393:Q113H;ENSP00000354920:Q199H;ENSP00000356710:Q116H	ENSP00000341732:Q113H	Q	+	3	2	METTL13	170019946	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	0.967000	0.29344	-0.111000	0.12001	0.655000	0.94253	CAG		PASS	0.582	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		55	102	55	102	---	---	---	---
PTGS2	5743	broad.mit.edu	37	1	186648497	186648497	+	Silent	SNP	G	G	A	rs200215667		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:186648497G>A	ENST00000367468.5	-	2	262	c.126C>T	c.(124-126)tgC>tgT	p.C42C	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	42	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.C42C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GGGTACAATCGCACTTATACT	0.438																																						uc001gsb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(124-126)TGC>TGT		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						132.0	111.0	118.0					1																	186648497		2203	4300	6503	SO:0001819	synonymous_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648497G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.126C>T	1.37:g.186648497G>A						PTGS2_uc009wyo.2_5'UTR	p.C42C	NM_000963	NP_000954	P35354	PGH2_HUMAN			2	263	-			42			EGF-like.		A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	c.126C>T	CCDS1371.1																																																																																				PASS	0.438	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		5	78	5	78	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197316552	197316552	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:197316552C>A	ENST00000367400.3	+	4	1066	c.931C>A	c.(931-933)Cac>Aac	p.H311N	CRB1_ENST00000543483.1_Missense_Mutation_p.H10N|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.H311N|CRB1_ENST00000535699.1_Missense_Mutation_p.H242N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	311	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H311N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAAACCTTGTCACAATAATGC	0.408																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(931-933)CAC>AAC		crumbs homolog 1 precursor							189.0	155.0	167.0					1																	197316552		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197316552C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.931C>A	1.37:g.197316552C>A	ENSP00000356370:p.His311Asn					CRB1_uc010poz.1_Missense_Mutation_p.H242N|CRB1_uc001gty.1_Missense_Mutation_p.H311N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Missense_Mutation_p.H311N|CRB1_uc010ppc.1_RNA	p.H311N	NM_201253	NP_957705	P82279	CRUM1_HUMAN			4	1066	+			311			Extracellular (Potential).|EGF-like 8.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.931C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961394	0.53400	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000543483	D;D;D;D	0.92249	-2.21;-2.21;-2.21;-3.0	5.22	3.29	0.37713	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91068	0.7189	L	0.37897	1.145	0.80722	D	1	D;B;D;D	0.63880	0.983;0.13;0.969;0.993	P;B;P;D	0.65140	0.818;0.228;0.799;0.932	D	0.87355	0.2340	9	0.28530	T	0.3	.	5.9145	0.19048	0.0:0.6522:0.1801:0.1677	.	311;242;311;336	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	N	242;311;311;10	ENSP00000438786:H242N;ENSP00000438091:H311N;ENSP00000356370:H311N;ENSP00000439579:H10N	ENSP00000356370:H311N	H	+	1	0	CRB1	195583175	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.327000	0.33746	1.144000	0.42321	0.585000	0.79938	CAC		PASS	0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		73	138	73	138	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209964185	209964185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:209964185G>A	ENST00000367021.3	-	7	887	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	IRF6_ENST00000542854.1_Nonsense_Mutation_p.Q144*	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	239					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q239*(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GTCATGGTCTGCCCGTACTCC	0.572										HNSCC(57;0.16)																												uc001hhq.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(715-717)CAG>TAG		interferon regulatory factor 6							95.0	86.0	89.0					1																	209964185		2203	4300	6503	SO:0001587	stop_gained	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209964185G>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.715C>T	1.37:g.209964185G>A	ENSP00000355988:p.Gln239*	HNSCC(57;0.16)				IRF6_uc010psm.1_Nonsense_Mutation_p.Q144*|IRF6_uc009xct.1_Nonsense_Mutation_p.Q239*	p.Q239*	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	7	978	-			239					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Nonsense_Mutation	SNP	ENST00000367021.3	37	c.715C>T	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	38	7.088189	0.98055	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	6.17	6.17	0.99709	.	0.293735	0.39544	N	0.001321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	239;144;239	.	.	Q	-	1	0	IRF6	208030808	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.177000	0.65032	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.572	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		80	139	80	139	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212193539	212193539	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:212193539T>C	ENST00000366994.3	-	3	400	c.296A>G	c.(295-297)aAt>aGt	p.N99S	INTS7_ENST00000366992.3_Missense_Mutation_p.N99S|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Intron|INTS7_ENST00000366993.3_Missense_Mutation_p.N99S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	99					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.N99S(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTCATCCACATTTAGAATCTT	0.338																																						uc001hiw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)AAT>AGT		integrator complex subunit 7							76.0	75.0	75.0					1																	212193539		2203	4298	6501	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212193539T>C	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.296A>G	1.37:g.212193539T>C	ENSP00000355961:p.Asn99Ser					INTS7_uc009xdb.1_Missense_Mutation_p.N99S|INTS7_uc001hix.1_5'UTR|INTS7_uc001hiy.1_Missense_Mutation_p.N99S|INTS7_uc010pta.1_Intron	p.N99S	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	3	401	-			99					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.296A>G	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206234	0.79127	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992	T;T;T	0.28895	1.59;1.59;1.59	5.21	5.21	0.72293	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	M	0.62088	1.915	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.70935	0.971;0.971;0.971	T	0.41034	-0.9531	10	0.19147	T	0.46	-29.483	15.1186	0.72423	0.0:0.0:0.0:1.0	.	99;99;99	Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;INT7_HUMAN	S	99	ENSP00000355961:N99S;ENSP00000355960:N99S;ENSP00000355959:N99S	ENSP00000355959:N99S	N	-	2	0	INTS7	210260162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.686000	0.84128	1.970000	0.57323	0.528000	0.53228	AAT		PASS	0.338	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		34	51	34	51	---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213414125	213414125	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:213414125C>T	ENST00000366960.3	+	11	1456	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P424S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P224S|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P139S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	436	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.P436S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGTGAAAAAACCTACACTTGC	0.413																																						uc010ptr.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)	8						c.(1306-1308)CCT>TCT		ribosomal protein S6 kinase, 52kDa, polypeptide							120.0	127.0	125.0					1																	213414125		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414125C>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1306C>T	1.37:g.213414125C>T	ENSP00000355927:p.Pro436Ser					RPS6KC1_uc001hkd.2_Missense_Mutation_p.P424S|RPS6KC1_uc010pts.1_Missense_Mutation_p.P224S|RPS6KC1_uc010ptt.1_Missense_Mutation_p.P224S|RPS6KC1_uc010ptu.1_Missense_Mutation_p.P255S|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.P255S	p.P436S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1465	+			436			Protein kinase 1.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1306C>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.918366	0.00055	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.33438	1.84;1.79;1.79;1.41	5.64	-5.1	0.02911	.	0.604694	0.18885	N	0.128462	T	0.05273	0.0140	N	0.00972	-1.085	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.31558	-0.9939	10	0.02654	T	1	-20.3436	3.1907	0.06616	0.1008:0.3063:0.1042:0.4887	.	224;436;424	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	224;436;424;139	ENSP00000442306:P224S;ENSP00000355927:P436S;ENSP00000355926:P424S;ENSP00000439282:P139S	ENSP00000355926:P424S	P	+	1	0	RPS6KC1	211480748	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	0.059000	0.14322	-0.670000	0.05282	-0.350000	0.07774	CCT		PASS	0.413	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		90	208	90	208	---	---	---	---
OR13G1	441933	broad.mit.edu	37	1	247835882	247835882	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:247835882C>A	ENST00000359688.2	-	1	483	c.462G>T	c.(460-462)tgG>tgT	p.W154C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W154C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGTGCACCCAGGAATTGG	0.473																																						uc001idi.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(460-462)TGG>TGT		olfactory receptor, family 13, subfamily G,							101.0	83.0	89.0					1																	247835882		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835882C>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.462G>T	1.37:g.247835882C>A	ENSP00000352717:p.Trp154Cys						p.W154C	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	462	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		154			Helical; Name=4; (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.462G>T	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	6.066	0.380464	0.11466	.	.	ENSG00000197437	ENST00000359688	T	0.00076	8.76	4.2	-3.4	0.04853	GPCR, rhodopsin-like superfamily (1);	0.717680	0.11787	N	0.529605	T	0.00073	0.0002	N	0.11560	0.145	0.09310	N	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.17319	-1.0373	10	0.66056	D	0.02	-0.0182	4.229	0.10594	0.1275:0.2072:0.5017:0.1636	.	154	Q8NGZ3	O13G1_HUMAN	C	154	ENSP00000352717:W154C	ENSP00000352717:W154C	W	-	3	0	OR13G1	245902505	0.000000	0.05858	0.000000	0.03702	0.886000	0.51366	-0.458000	0.06737	-0.824000	0.04295	0.563000	0.77884	TGG		PASS	0.473	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		32	77	32	77	---	---	---	---
COLEC11	78989	broad.mit.edu	37	2	3652013	3652013	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:3652013C>A	ENST00000349077.4	+	2	186	c.83C>A	c.(82-84)gCt>gAt	p.A28D	COLEC11_ENST00000382062.2_Missense_Mutation_p.A28D|COLEC11_ENST00000402794.1_5'Flank|COLEC11_ENST00000236693.7_5'UTR|COLEC11_ENST00000404205.1_5'Flank|COLEC11_ENST00000487365.1_3'UTR|AC010907.2_ENST00000456450.1_RNA|COLEC11_ENST00000418971.2_Missense_Mutation_p.A42D|COLEC11_ENST00000403096.3_5'Flank|COLEC11_ENST00000402922.1_5'Flank	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	28					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.A42D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCTCAGCCGGCTGGCGATGAC	0.647																																						uc002qya.2																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)GCT>GAT		collectin sub-family member 11 isoform a							146.0	131.0	136.0					2																	3652013		2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3652013C>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.83C>A	2.37:g.3652013C>A	ENSP00000339168:p.Ala28Asp					COLEC11_uc002qxz.2_Translation_Start_Site|COLEC11_uc002qyb.2_Missense_Mutation_p.A28D|COLEC11_uc002qyc.2_Missense_Mutation_p.A28D|COLEC11_uc010ewo.2_Missense_Mutation_p.A28D|COLEC11_uc010ewp.2_5'Flank|COLEC11_uc010ewq.2_5'Flank|COLEC11_uc010ewr.2_5'Flank|COLEC11_uc010ews.2_5'Flank	p.A28D	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	2	231	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		28					A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.83C>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.841002	0.32513	.	.	ENSG00000118004	ENST00000382062;ENST00000349077;ENST00000438814;ENST00000418971	T;D;D;D	0.91996	-0.26;-2.1;-2.95;-2.24	4.83	2.53	0.30540	.	0.536654	0.19824	N	0.105251	T	0.78886	0.4354	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.28470	0.145;0.145;0.178;0.213	B;B;B;B	0.30251	0.048;0.033;0.071;0.113	T	0.64166	-0.6471	10	0.14656	T	0.56	-1.2448	1.9394	0.03343	0.2927:0.44:0.0:0.2673	.	28;28;28;28	Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8	.;.;.;COL11_HUMAN	D	28;28;42;42	ENSP00000371494:A28D;ENSP00000339168:A28D;ENSP00000393167:A42D;ENSP00000411770:A42D	ENSP00000339168:A28D	A	+	2	0	COLEC11	3629888	0.920000	0.31207	0.002000	0.10522	0.001000	0.01503	1.697000	0.37784	1.126000	0.42016	0.655000	0.94253	GCT		PASS	0.647	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		45	130	45	130	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15607790	15607790	+	Silent	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:15607790G>A	ENST00000281513.5	-	18	2041	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NBAS_ENST00000441750.1_Silent_p.S672S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	672					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.S672S(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCATTTACTTGGAAAAGTTCA	0.328																																						uc002rcc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(2014-2016)TCC>TCT		neuroblastoma-amplified protein							95.0	88.0	90.0					2																	15607790		2201	4300	6501	SO:0001819	synonymous_variant	51594							g.chr2:15607790G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2016C>T	2.37:g.15607790G>A						NBAS_uc002rcd.1_RNA	p.S672S	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			18	2042	-			672					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.2016C>T	CCDS1685.1																																																																																				PASS	0.328	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		19	48	19	48	---	---	---	---
PPM1B	5495	broad.mit.edu	37	2	44428979	44428979	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:44428979G>T	ENST00000282412.4	+	2	1053	c.641G>T	c.(640-642)gGc>gTc	p.G214V	PPM1B_ENST00000409895.4_Missense_Mutation_p.G214V|PPM1B_ENST00000409432.3_Missense_Mutation_p.G214V|PPM1B_ENST00000378551.2_Missense_Mutation_p.G214V|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	214					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.G214V(3)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATGGCAAGGGCCCAACAGAA	0.438																																						uc002rtt.2																			3	Substitution - Missense(3)		lung(3)	kidney(1)|skin(1)	2						c.(640-642)GGC>GTC		protein phosphatase 1B isoform 1							132.0	129.0	130.0					2																	44428979		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428979G>T	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.641G>T	2.37:g.44428979G>T	ENSP00000282412:p.Gly214Val					PPM1B_uc002rts.2_Missense_Mutation_p.G214V|PPM1B_uc002rtu.2_Missense_Mutation_p.G214V|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.G214V|PPM1B_uc002rtx.2_Missense_Mutation_p.G214V	p.G214V	NM_002706	NP_002697	O75688	PPM1B_HUMAN			2	1069	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	214					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.641G>T	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354555	0.82243	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04;3.04	5.68	5.68	0.88126	Protein phosphatase 2C-like (5);	0.094170	0.85682	D	0.000000	T	0.38321	0.1036	M	0.89658	3.05	0.80722	D	1	D;D;D;D;D	0.65815	0.994;0.965;0.988;0.994;0.995	D;P;D;D;P	0.68621	0.916;0.693;0.959;0.939;0.845	T	0.38134	-0.9675	10	0.62326	D	0.03	-12.2091	19.8002	0.96504	0.0:0.0:1.0:0.0	.	214;214;214;214;214	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	V	214	ENSP00000390087:G214V;ENSP00000387341:G214V;ENSP00000387287:G214V;ENSP00000282412:G214V;ENSP00000367813:G214V;ENSP00000386982:G214V	ENSP00000282412:G214V	G	+	2	0	PPM1B	44282483	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.674000	0.91012	0.655000	0.94253	GGC		PASS	0.438	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		37	77	37	77	---	---	---	---
TTC7A	57217	broad.mit.edu	37	2	47300936	47300936	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:47300936G>C	ENST00000319190.5	+	20	2819	c.2451G>C	c.(2449-2451)caG>caC	p.Q817H	C2orf61_ENST00000464527.2_Intron|AC073283.7_ENST00000421759.1_RNA|TTC7A_ENST00000409245.1_Missense_Mutation_p.Q783H|RP11-761B3.1_ENST00000422269.1_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.Q841H|TTC7A_ENST00000263737.6_Missense_Mutation_p.Q463H	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	817					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)			p.Q817H(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGGCGTGGCAGGGCCTGGGCG	0.662																																						uc002rvo.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(2449-2451)CAG>CAC		tetratricopeptide repeat domain 7A							61.0	55.0	57.0					2																	47300936		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47300936G>C	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2451G>C	2.37:g.47300936G>C	ENSP00000316699:p.Gln817His					TTC7A_uc002rvm.2_Missense_Mutation_p.Q783H|TTC7A_uc010fbb.2_Missense_Mutation_p.Q841H|TTC7A_uc010fbc.2_Missense_Mutation_p.Q463H|TTC7A_uc002rvp.2_Missense_Mutation_p.Q698H|C2orf61_uc010fbd.2_Intron|TTC7A_uc002rvq.2_Missense_Mutation_p.Q557H|TTC7A_uc002rvr.2_Missense_Mutation_p.Q266H	p.Q817H	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		20	2819	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	817			TPR 9.		Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.2451G>C	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754533	0.31046	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.2	-0.52	0.11935	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.331338	0.34002	N	0.004349	T	0.34948	0.0915	N	0.04636	-0.2	0.80722	D	1	P;B;P;B	0.42941	0.794;0.008;0.693;0.006	B;B;B;B	0.43413	0.419;0.027;0.214;0.016	T	0.08310	-1.0728	10	0.15499	T	0.54	-14.2344	8.786	0.34821	0.1658:0.464:0.3702:0.0	.	841;783;817;783	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	H	783;817;841;463;644	ENSP00000386307:Q783H;ENSP00000316699:Q817H;ENSP00000378320:Q841H;ENSP00000263737:Q463H	ENSP00000263737:Q463H	Q	+	3	2	TTC7A	47154440	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.683000	0.37638	0.188000	0.20168	0.491000	0.48974	CAG		PASS	0.662	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		45	60	45	60	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64779427	64779427	+	Silent	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:64779427G>T	ENST00000422803.1	+	2	1133	c.819G>T	c.(817-819)ctG>ctT	p.L273L	AFTPH_ENST00000238856.4_Silent_p.L273L|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_Silent_p.L273L|AFTPH_ENST00000238855.7_Silent_p.L273L			Q6ULP2	AFTIN_HUMAN	aftiphilin	273					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.L273L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCAATGAACTGAATTCTGTAA	0.348																																						uc002sdc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(817-819)CTG>CTT		aftiphilin protein isoform a							50.0	55.0	53.0					2																	64779427		2203	4300	6503	SO:0001819	synonymous_variant	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779427G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.819G>T	2.37:g.64779427G>T						AFTPH_uc002scz.2_Silent_p.L273L|AFTPH_uc002sda.2_Silent_p.L273L|AFTPH_uc002sdb.2_Silent_p.L273L	p.L273L	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	851	+			273					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	ENST00000422803.1	37	c.819G>T																																																																																					PASS	0.348	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		46	77	46	77	---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97526534	97526535	+	Missense_Mutation	DNP	GT	GT	AA	rs200526785		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:97526534_97526535GT>AA	ENST00000305476.5	-	15	2462_2463	c.2330_2331AC>TT	c.(2329-2331)cAC>cTT	p.H777L	ANKRD39_ENST00000393537.4_5'Flank	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	777					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)	p.H777L(2)|p.H777H(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CACCCCCCAGGTGAAGCCGAGT	0.673																																						uc002sxh.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(2)	2						c.(2329-2331)CAC>CAT|c.(2329-2331)CAC>CTC		semaphorin 4C precursor																																				SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97526534G>A|g.chr2:97526535T>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.2330_2331delinsAA	2.37:g.97526534_97526535delinsAA	ENSP00000306844:p.His777Leu					ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Silent_p.H277H|SEMA4C_uc002sxe.2_Silent_p.H318H|SEMA4C_uc002sxg.3_Silent_p.H830H|ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Missense_Mutation_p.H277L|SEMA4C_uc002sxe.2_Missense_Mutation_p.H318L|SEMA4C_uc002sxg.3_Missense_Mutation_p.H830L	p.H777H|p.H777L	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN			15	2491|2490	-			777			Cytoplasmic (Potential).		Q32MJ3|Q7Z5X0	Silent|Missense_Mutation	SNP	ENST00000305476.5	37	c.2331C>T|c.2330A>T	CCDS2029.1																																																																																				PASS	0.673	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		48|49	145|137	48	137	---	---	---	---
BUB1	699	broad.mit.edu	37	2	111411055	111411055	+	Missense_Mutation	SNP	C	C	A	rs189411019		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:111411055C>A	ENST00000302759.6	-	17	2040	c.1922G>T	c.(1921-1923)tGt>tTt	p.C641F	BUB1_ENST00000409311.1_Missense_Mutation_p.C641F|BUB1_ENST00000535254.1_Missense_Mutation_p.C621F	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	641					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C641F(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GTTTTCCTCACAAGAATCCAA	0.383																																						uc002tgc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(1921-1923)TGT>TTT		budding uninhibited by benzimidazoles 1							172.0	165.0	168.0					2																	111411055		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111411055C>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1922G>T	2.37:g.111411055C>A	ENSP00000302530:p.Cys641Phe					BUB1_uc010yxh.1_Missense_Mutation_p.C621F|BUB1_uc010fkb.2_Missense_Mutation_p.C641F	p.C641F	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	17	2034	-		Ovarian(717;0.0822)	641					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1922G>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	0.602	-0.828608	0.02734	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.31247	2.24;1.5;2.5	6.17	2.4	0.29515	.	0.419784	0.26750	N	0.022682	T	0.20981	0.0505	L	0.53249	1.67	0.09310	N	1	B;B;B	0.22851	0.076;0.001;0.001	B;B;B	0.26770	0.073;0.001;0.001	T	0.28235	-1.0050	10	0.10111	T	0.7	0.143	2.0613	0.03592	0.1391:0.5046:0.1348:0.2216	.	621;641;641	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	F	621;641;641;641	ENSP00000441013:C621F;ENSP00000386701:C641F;ENSP00000302530:C641F	ENSP00000302530:C641F	C	-	2	0	BUB1	111127528	0.001000	0.12720	0.000000	0.03702	0.206000	0.24218	0.204000	0.17335	0.171000	0.19730	0.655000	0.94253	TGT		PASS	0.383	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		40	86	40	86	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116593753	116593753	+	Silent	SNP	A	A	T	rs200764067		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:116593753A>T	ENST00000410059.1	+	22	2451	c.1971A>T	c.(1969-1971)gcA>gcT	p.A657A	DPP10_ENST00000310323.8_Silent_p.A650A|DPP10_ENST00000409163.1_Silent_p.A607A|DPP10_ENST00000393147.2_Silent_p.A661A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	657						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.A657A(1)|p.A650A(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GCTATATTGCATCAATGATCT	0.338																																						uc002tla.1																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1969-1971)GCA>GCT		dipeptidyl peptidase 10 isoform long							77.0	74.0	75.0					2																	116593753		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593753A>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1971A>T	2.37:g.116593753A>T						DPP10_uc002tlb.1_Silent_p.A607A|DPP10_uc002tlc.1_Silent_p.A653A|DPP10_uc002tle.2_Silent_p.A661A|DPP10_uc002tlf.1_Silent_p.A650A	p.A657A	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			22	2428	+			657			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.1971A>T	CCDS46400.1																																																																																				PASS	0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		22	36	22	36	---	---	---	---
RALB	5899	broad.mit.edu	37	2	121043651	121043651	+	Missense_Mutation	SNP	G	G	A	rs139389446		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:121043651G>A	ENST00000272519.5	+	3	586	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	RALB_ENST00000474855.2_Missense_Mutation_p.E128K|RALB_ENST00000404963.3_Missense_Mutation_p.E127K|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.E106K	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	106					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E106K(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AGCAACTGCCGAATTCAGGTA	0.443																																						uc002tmk.2																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(316-318)GAA>AAA		v-ral simian leukemia viral oncogene homolog B		G	LYS/GLU	0,4406		0,0,2203	84.0	81.0	82.0		316	6.1	0.6	2	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	missense	RALB	NM_002881.2	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	106/207	121043651	2,13004	2203	4300	6503	SO:0001583	missense	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121043651G>A		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.316G>A	2.37:g.121043651G>A	ENSP00000272519:p.Glu106Lys					RALB_uc010yys.1_Missense_Mutation_p.E128K|RALB_uc002tml.2_Missense_Mutation_p.E127K|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_Intron	p.E106K	NM_002881	NP_002872	P11234	RALB_HUMAN			3	506	+		Prostate(154;0.122)	106					B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	c.316G>A	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046729	0.93740	0.0	2.33E-4	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383;ENST00000449649	T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	6.08	6.08	0.98989	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	N	0.03253	-0.375	0.80722	D	1	P;D;P	0.55800	0.883;0.973;0.802	P;P;P	0.55087	0.557;0.768;0.645	T	0.72114	-0.4388	10	0.33940	T	0.23	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	128;127;106	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	K	128;128;106;106;127;106;106	ENSP00000402866:E128K;ENSP00000438764:E128K;ENSP00000272519:E106K;ENSP00000414224:E106K;ENSP00000384328:E127K;ENSP00000398162:E106K;ENSP00000407062:E106K	ENSP00000272519:E106K	E	+	1	0	RALB	120760121	1.000000	0.71417	0.551000	0.28230	0.959000	0.62525	9.726000	0.98782	2.894000	0.99253	0.655000	0.94253	GAA		PASS	0.443	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		5	110	5	110	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141055406	141055406	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:141055406G>T	ENST00000389484.3	-	84	13909	c.12938C>A	c.(12937-12939)cCg>cAg	p.P4313Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4313	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.P4313Q(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)		GGTGTATTCCGGCTGGCAGTG	0.468										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12937-12939)CCG>CAG		low density lipoprotein-related protein 1B							167.0	172.0	171.0					2																	141055406		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141055406G>T	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.12938C>A	2.37:g.141055406G>T	ENSP00000374135:p.Pro4313Gln	TSP Lung(27;0.18)					p.P4313Q	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)	84	13910	-		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)	4313			Extracellular (Potential).|EGF-like 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12938C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031007	0.35797	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91686	-2.89	6.08	5.18	0.71444	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.487586	0.20959	N	0.082598	D	0.89037	0.6601	L	0.49513	1.565	0.09310	N	1	B	0.22146	0.065	B	0.20955	0.032	T	0.80571	-0.1323	10	0.44086	T	0.13	.	12.068	0.53598	0.0:0.1309:0.733:0.1361	.	4313	Q9NZR2	LRP1B_HUMAN	Q	4313;4251	ENSP00000374135:P4313Q	ENSP00000374135:P4313Q	P	-	2	0	LRP1B	140771876	0.343000	0.24818	0.007000	0.13788	0.137000	0.21094	3.239000	0.51360	1.525000	0.49052	0.655000	0.94253	CCG		PASS	0.468	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		127	315	127	315	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467190	164467190	+	Silent	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:164467190G>A	ENST00000333129.3	-	3	1466	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	384					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.S384S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCTGTTCAGAGGACATTAGCT	0.458																																						uc002uck.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1150-1152)TCC>TCT		fidgetin							92.0	92.0	92.0					2																	164467190		1995	4178	6173	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467190G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1152C>T	2.37:g.164467190G>A							p.S384S	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1463	-			384					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.1152C>T	CCDS2221.2																																																																																				PASS	0.458	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		41	89	41	89	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170094609	170094609	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:170094609T>C	ENST00000263816.3	-	27	4783	c.4498A>G	c.(4498-4500)Aga>Gga	p.R1500G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1500					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R1500G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACCACTCTTCTGTCCGTTCCA	0.438																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4498-4500)AGA>GGA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						118.0	96.0	104.0					2																	170094609		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170094609T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4498A>G	2.37:g.170094609T>C	ENSP00000263816:p.Arg1500Gly						p.R1500G	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	27	4711	-			1500			LDL-receptor class B 10.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4498A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.427326	0.43122	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.39	1.11	0.20524	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.225948	0.44688	D	0.000436	D	0.86760	0.6010	M	0.80183	2.485	0.58432	D	0.999998	P	0.40144	0.704	B	0.33042	0.157	T	0.80839	-0.1203	10	0.19590	T	0.45	.	9.7841	0.40666	0.0937:0.0:0.2779:0.6284	.	1500	P98164	LRP2_HUMAN	G	1500	ENSP00000263816:R1500G	ENSP00000263816:R1500G	R	-	1	2	LRP2	169802855	0.126000	0.22350	0.287000	0.24848	0.664000	0.39144	-0.141000	0.10327	0.300000	0.22699	0.533000	0.62120	AGA		PASS	0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		32	84	32	84	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801543	185801543	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:185801543G>A	ENST00000302277.6	+	4	2014	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	474							metal ion binding (GO:0046872)	p.D474H(2)|p.D474N(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						TAATAATCTAGATAAAAATAA	0.343																																						uc002uph.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1420-1422)GAT>AAT		zinc finger protein 804A							61.0	65.0	64.0					2																	185801543		2202	4299	6501	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801543G>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.1420G>A	2.37:g.185801543G>A	ENSP00000303252:p.Asp474Asn						p.D474N	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2014	+			474					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1420G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835914	0.32421	.	.	ENSG00000170396	ENST00000302277	T	0.06768	3.26	5.69	2.89	0.33648	.	0.432373	0.21837	N	0.068392	T	0.09992	0.0245	M	0.62723	1.935	0.21861	N	0.999507	B	0.12630	0.006	B	0.08055	0.003	T	0.20706	-1.0267	10	0.66056	D	0.02	-3.8118	8.0701	0.30685	0.0729:0.0:0.6471:0.2801	.	474	Q7Z570	Z804A_HUMAN	N	474	ENSP00000303252:D474N	ENSP00000303252:D474N	D	+	1	0	ZNF804A	185509788	0.983000	0.35010	0.806000	0.32338	0.937000	0.57800	1.862000	0.39448	0.324000	0.23333	0.655000	0.94253	GAT		PASS	0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		59	139	59	139	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185803089	185803089	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:185803089C>A	ENST00000302277.6	+	4	3560	c.2966C>A	c.(2965-2967)aCt>aAt	p.T989N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	989							metal ion binding (GO:0046872)	p.T989N(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						GAGACACCAACTGAGTGGCTG	0.413																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2965-2967)ACT>AAT		zinc finger protein 804A							109.0	102.0	104.0					2																	185803089		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803089C>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.2966C>A	2.37:g.185803089C>A	ENSP00000303252:p.Thr989Asn						p.T989N	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3560	+			989					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2966C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	6.251	0.414514	0.11870	.	.	ENSG00000170396	ENST00000302277	T	0.05786	3.39	5.14	1.89	0.25635	.	0.559254	0.15582	N	0.254866	T	0.05686	0.0149	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.29366	-1.0014	10	0.51188	T	0.08	-1.2861	4.3906	0.11339	0.1294:0.3275:0.4506:0.0925	.	989	Q7Z570	Z804A_HUMAN	N	989	ENSP00000303252:T989N	ENSP00000303252:T989N	T	+	2	0	ZNF804A	185511334	0.000000	0.05858	0.003000	0.11579	0.310000	0.27922	0.214000	0.17541	1.108000	0.41662	0.467000	0.42956	ACT		PASS	0.413	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		59	127	59	127	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212285214	212285214	+	Silent	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:212285214G>A	ENST00000342788.4	-	25	3397	c.3087C>T	c.(3085-3087)aaC>aaT	p.N1029N	ERBB4_ENST00000436443.1_Silent_p.N1029N|ERBB4_ENST00000402597.1_Silent_p.N1019N	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1029					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N1029N(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GAGGTGGGATGTTGAAAGCCT	0.383										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - coding silent(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3085-3087)AAC>AAT		v-erb-a erythroblastic leukemia viral oncogene							99.0	90.0	93.0					2																	212285214		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212285214G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3087C>T	2.37:g.212285214G>A		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.N1029N|ERBB4_uc010zji.1_Silent_p.N1019N|ERBB4_uc010zjj.1_Silent_p.N1019N	p.N1029N	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	25	3185	-		Renal(323;0.06)|Lung NSC(271;0.197)	1029			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.3087C>T	CCDS2394.1																																																																																				PASS	0.383	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		19	71	19	71	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227876905	227876905	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:227876905C>A	ENST00000396625.3	-	45	4532	c.4325G>T	c.(4324-4326)gGa>gTa	p.G1442V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1439V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1442	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G1442V(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCTGGTCCTCCAGGGTAGCC	0.542																																						uc010zlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(4324-4326)GGA>GTA		alpha 4 type IV collagen precursor							59.0	64.0	62.0					2																	227876905		1916	4116	6032	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227876905C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4325G>T	2.37:g.227876905C>A	ENSP00000379866:p.Gly1442Val						p.G1442V	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	44	4979	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1442			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4325G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429729	0.43122	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99637	-6.29;-6.29	5.73	5.73	0.89815	.	.	.	.	.	D	0.99819	0.9920	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96975	0.9711	9	0.87932	D	0	.	19.903	0.96995	0.0:1.0:0.0:0.0	.	1442	P53420	CO4A4_HUMAN	V	1442;1439	ENSP00000379866:G1442V;ENSP00000328553:G1439V	ENSP00000328553:G1439V	G	-	2	0	COL4A4	227585149	1.000000	0.71417	0.641000	0.29422	0.301000	0.27625	6.043000	0.71004	2.697000	0.92050	0.563000	0.77884	GGA		PASS	0.542	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		29	52	29	52	---	---	---	---
CCL20	6364	broad.mit.edu	37	2	228678678	228678678	+	Silent	SNP	A	A	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:228678678A>C	ENST00000358813.4	+	1	109	c.51A>C	c.(49-51)ctA>ctC	p.L17L	CCL20_ENST00000409189.3_Silent_p.L17L			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	17					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.L17L(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)		CAGTGCTGCTACTCCACCTCT	0.468																																						uc002vpl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(49-51)CTA>CTC		chemokine (C-C motif) ligand 20 isoform 1							184.0	170.0	175.0					2																	228678678		2203	4300	6503	SO:0001819	synonymous_variant	6364				cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr2:228678678A>C	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.51A>C	2.37:g.228678678A>C						CCL20_uc002vpm.2_Silent_p.L17L	p.L17L	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)	1	121	+		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)	17					Q53S51|Q99664	Silent	SNP	ENST00000358813.4	37	c.51A>C	CCDS2469.1																																																																																				PASS	0.468	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331641.1	NM_004591		67	158	67	158	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234858695	234858695	+	Missense_Mutation	SNP	C	C	A	rs200208692		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr2:234858695C>A	ENST00000324695.4	+	9	1085	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Missense_Mutation_p.L37M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	349					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L349M(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGAGGATGCCCTGACATCTTC	0.542																																						uc002vvh.2																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1045-1047)CTG>ATG		transient receptor potential cation channel,	Menthol(DB00825)						84.0	78.0	80.0					2																	234858695		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234858695C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1045C>A	2.37:g.234858695C>A	ENSP00000323926:p.Leu349Met					TRPM8_uc010fyj.2_Missense_Mutation_p.L37M	p.L349M	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	9	1085	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	349			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.1045C>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284471	0.23392	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.36520	1.25;1.25	5.43	-0.618	0.11576	.	0.218004	0.31784	N	0.007062	T	0.24084	0.0583	L	0.41710	1.295	0.24242	N	0.995358	B;P	0.38250	0.435;0.624	B;B	0.38803	0.282;0.241	T	0.12993	-1.0526	10	0.33940	T	0.23	-8.2347	5.8045	0.18432	0.0:0.4929:0.2389:0.2682	.	37;349	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	M	349;37	ENSP00000323926:L349M;ENSP00000404423:L37M	ENSP00000323926:L349M	L	+	1	2	TRPM8	234523434	0.004000	0.15560	0.017000	0.16124	0.502000	0.33828	-0.186000	0.09670	-0.458000	0.07023	-1.095000	0.02154	CTG		PASS	0.542	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		22	55	22	55	---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39169890	39169890	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:39169890C>T	ENST00000431162.2	+	13	1746	c.1612C>T	c.(1612-1614)Cat>Tat	p.H538Y	TTC21A_ENST00000440121.1_Missense_Mutation_p.H490Y|TTC21A_ENST00000301819.6_Missense_Mutation_p.H539Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	538								p.H539Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CGTGGATGCCCATCTCCTCAT	0.552																																						uc003cjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1612-1614)CAT>TAT		tetratricopeptide repeat domain 21A isoform 2							94.0	98.0	97.0					3																	39169890		2055	4222	6277	SO:0001583	missense	199223						binding	g.chr3:39169890C>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1612C>T	3.37:g.39169890C>T	ENSP00000398211:p.His538Tyr					TTC21A_uc003cje.2_Missense_Mutation_p.H539Y|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.H490Y	p.H538Y	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	13	1789	+			538					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.1612C>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344955	0.61073	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.50548	1.35;0.74;0.74	4.57	3.69	0.42338	Tetratricopeptide-like helical (1);	0.073793	0.53938	D	0.000042	T	0.52805	0.1757	L	0.52126	1.63	0.44825	D	0.997835	B;D;D	0.76494	0.422;0.999;0.999	B;D;D	0.68483	0.16;0.93;0.958	T	0.52726	-0.8537	10	0.09084	T	0.74	-15.1796	8.0035	0.30310	0.1571:0.7552:0.0:0.0877	.	490;539;538	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	Y	539;521;538;490	ENSP00000301819:H539Y;ENSP00000398211:H538Y;ENSP00000410882:H490Y	ENSP00000301819:H539Y	H	+	1	0	TTC21A	39144894	1.000000	0.71417	0.986000	0.45419	0.798000	0.45092	3.595000	0.54016	1.049000	0.40321	0.655000	0.94253	CAT		PASS	0.552	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		51	46	51	46	---	---	---	---
EIF4E3	317649	broad.mit.edu	37	3	71745664	71745664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:71745664C>A	ENST00000425534.3	-	4	359	c.352G>T	c.(352-354)Gag>Tag	p.E118*	EIF4E3_ENST00000421769.2_Nonsense_Mutation_p.E12*|EIF4E3_ENST00000389826.3_Nonsense_Mutation_p.E12*|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000448225.1_Nonsense_Mutation_p.E12*|EIF4E3_ENST00000295612.3_Nonsense_Mutation_p.E12*	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	118					cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)	p.E118*(1)|p.E12*(1)		large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		GCATTACTCTCCTCTTCCCTG	0.438																																						uc003dov.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(352-354)GAG>TAG		eukaryotic translation initiation factor 4E							167.0	134.0	145.0					3																	71745664		2203	4300	6503	SO:0001587	stop_gained	317649				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr3:71745664C>A	AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"""eukaryotic translation initiation factor 4E member 3"""			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000425534.3:c.352G>T	3.37:g.71745664C>A	ENSP00000393324:p.Glu118*					EIF4E3_uc011bgc.1_Nonsense_Mutation_p.E12*|EIF4E3_uc003dox.2_Nonsense_Mutation_p.E12*|EIF4E3_uc011bgd.1_Nonsense_Mutation_p.E12*|EIF4E3_uc010hoc.2_Nonsense_Mutation_p.E12*	p.E118*	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)	4	360	-		Prostate(10;0.0166)	118					B2R963|Q6NUT1	Nonsense_Mutation	SNP	ENST00000425534.3	37	c.352G>T	CCDS46867.1	.	.	.	.	.	.	.	.	.	.	C	39	7.754063	0.98471	.	.	ENSG00000163412	ENST00000425534;ENST00000448225;ENST00000389826;ENST00000295612;ENST00000421769;ENST00000497838;ENST00000496214;ENST00000469524	.	.	.	5.67	4.8	0.61643	.	0.042910	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-11.4759	14.359	0.66757	0.0:0.929:0.0:0.071	.	.	.	.	X	118;12;12;12;12;12;12;12	.	ENSP00000295612:E12X	E	-	1	0	EIF4E3	71828354	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.426000	0.66476	1.385000	0.46445	0.655000	0.94253	GAG		PASS	0.438	EIF4E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352294.2	NM_173359		63	48	63	48	---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88205447	88205447	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:88205447G>T	ENST00000318887.3	+	3	962	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	218					apoptotic process (GO:0006915)			p.D216Y(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CCCCAACCTAGATTCACATGG	0.433																																						uc003dqw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)GAT>TAT		hypothetical protein LOC285237							135.0	130.0	132.0					3																	88205447		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88205447G>T	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.652G>T	3.37:g.88205447G>T	ENSP00000322469:p.Asp218Tyr						p.D218Y	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	4	963	+		Lung NSC(201;0.17)	218					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.652G>T	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209599	0.58343	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.83	5.83	0.93111	.	0.213775	0.48767	D	0.000166	T	0.68026	0.2956	L	0.56769	1.78	0.80722	D	1	D	0.64830	0.994	P	0.62560	0.904	T	0.70004	-0.4991	9	0.72032	D	0.01	-16.7196	10.3254	0.43790	0.0738:0.1374:0.7888:0.0	.	218	Q5JPI3	CC038_HUMAN	Y	218	.	ENSP00000322469:D218Y	D	+	1	0	C3orf38	88288137	1.000000	0.71417	0.986000	0.45419	0.962000	0.63368	3.341000	0.52151	2.751000	0.94390	0.557000	0.71058	GAT		PASS	0.433	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		79	86	79	86	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89480438	89480438	+	Missense_Mutation	SNP	G	G	T	rs146856660		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:89480438G>T	ENST00000336596.2	+	13	2500	c.2275G>T	c.(2275-2277)Gtg>Ttg	p.V759L	EPHA3_ENST00000494014.1_Missense_Mutation_p.V759L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	759	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.V759L(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAGTAACTTGGTGTGTAAGGT	0.458										TSP Lung(6;0.00050)																												uc003dqy.2																			1	Substitution - Missense(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2275-2277)GTG>TTG		ephrin receptor EphA3 isoform a precursor							166.0	151.0	156.0					3																	89480438		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89480438G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2275G>T	3.37:g.89480438G>T	ENSP00000337451:p.Val759Leu	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.V759L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	13	2500	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	759			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2275G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894805	0.91962	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.62639	0.01;0.01	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	L	0.56199	1.76	0.80722	D	1	D	0.59357	0.985	D	0.68483	0.958	T	0.73167	-0.4068	9	.	.	.	.	19.3726	0.94495	0.0:0.0:1.0:0.0	.	759	P29320	EPHA3_HUMAN	L	759	ENSP00000337451:V759L;ENSP00000419190:V759L	.	V	+	1	0	EPHA3	89563128	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.968000	0.87980	2.648000	0.89879	0.585000	0.79938	GTG		PASS	0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		26	30	26	30	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96706702	96706702	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:96706702C>T	ENST00000389672.5	+	3	1017	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	EPHA6_ENST00000542517.1_Missense_Mutation_p.R233W|EPHA6_ENST00000470610.2_Missense_Mutation_p.R327W	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	233						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R233W(2)|p.R327W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGTTGAAGTACGGGGTTCTTG	0.478																																						uc010how.1																			3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(979-981)CGG>TGG		EPH receptor A6 isoform a							189.0	184.0	186.0					3																	96706702		1956	4165	6121	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706702C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.979C>T	3.37:g.96706702C>T	ENSP00000374323:p.Arg327Trp					EPHA6_uc003drp.1_Missense_Mutation_p.R327W	p.R327W	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	1022	+			232			Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.979C>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.057210|3.057210	0.55325|0.55325	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.76060|.	4.94;-0.99;4.38|.	5.35|5.35	0.844|0.844	0.18943|0.18943	.|.	0.574193|.	0.15137|.	U|.	0.278528|.	T|T	0.81470|0.81470	0.4829|0.4829	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.83060|0.83060	-0.0148|-0.0148	10|5	0.87932|.	D|.	0|.	.|.	14.4357|14.4357	0.67279|0.67279	0.6024:0.3976:0.0:0.0|0.6024:0.3976:0.0:0.0	.|.	327;327|.	B3KS12;E7EU71|.	.;.|.	W|M	327;327;233|271	ENSP00000420598:R327W;ENSP00000374323:R327W;ENSP00000439758:R233W|.	ENSP00000374323:R327W|.	R|T	+|+	1|2	2|0	EPHA6|EPHA6	98189392|98189392	0.994000|0.994000	0.37717|0.37717	0.704000|0.704000	0.30370|0.30370	0.991000|0.991000	0.79684|0.79684	1.860000|1.860000	0.39428|0.39428	-0.152000|-0.152000	0.11156|0.11156	0.650000|0.650000	0.86243|0.86243	CGG|ACG		PASS	0.478	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		89	528	89	528	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100961722	100961722	+	Silent	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:100961722C>A	ENST00000193391.7	-	14	3019	c.2832G>T	c.(2830-2832)acG>acT	p.T944T		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	944	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.T944T(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TCTGGAACCCCGTGAGATTTG	0.408																																						uc003duq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2830-2832)ACG>ACT		interphotoreceptor matrix proteoglycan 2							87.0	83.0	84.0					3																	100961722		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100961722C>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2832G>T	3.37:g.100961722C>A						IMPG2_uc011bhe.1_Silent_p.T807T	p.T944T	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			14	3035	-			944			Extracellular (Potential).|SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.2832G>T	CCDS2940.1																																																																																				PASS	0.408	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			163	114	163	114	---	---	---	---
ABHD10	55347	broad.mit.edu	37	3	111705116	111705116	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:111705116A>T	ENST00000273359.3	+	3	359	c.332A>T	c.(331-333)gAt>gTt	p.D111V	ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.D111V	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	111					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.D111V(1)		large_intestine(2)|lung(7)|skin(1)	10						TCCAGGTTTGATTACTCAGGA	0.343																																						uc003dyk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GAT>GTT		abhydrolase domain containing 10 precursor							87.0	86.0	87.0					3																	111705116		2203	4300	6503	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111705116A>T	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.332A>T	3.37:g.111705116A>T	ENSP00000273359:p.Asp111Val					ABHD10_uc011bhq.1_5'UTR	p.D111V	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			3	413	+			111					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.332A>T	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236187	0.39498	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T;T	0.79141	-0.21;-1.24	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.91744	0.7389	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94145	0.7400	10	0.87932	D	0	-19.5153	14.9111	0.70758	1.0:0.0:0.0:0.0	.	111	Q9NUJ1	ABHDA_HUMAN	V	111	ENSP00000273359:D111V;ENSP00000418973:D111V	ENSP00000273359:D111V	D	+	2	0	ABHD10	113187806	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	8.887000	0.92456	2.151000	0.67156	0.533000	0.62120	GAT		PASS	0.343	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		70	73	70	73	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111983116	111983116	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:111983116G>A	ENST00000305815.5	-	9	1205	c.953C>T	c.(952-954)aCa>aTa	p.T318I	SLC9C1_ENST00000487372.1_Intron	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	318					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.T318I(1)									ATACAAATATGTATGTGCAGG	0.249																																						uc003dyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(952-954)ACA>ATA		sperm-specific sodium proton exchanger							24.0	26.0	26.0					3																	111983116		2157	4241	6398	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111983116G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.953C>T	3.37:g.111983116G>A	ENSP00000306627:p.Thr318Ile					SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Intron	p.T318I	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			9	1175	-			318			Helical; (Potential).		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.953C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	4.555	0.103155	0.08731	.	.	ENSG00000172139	ENST00000305815	T	0.09445	2.98	5.96	2.2	0.27929	Cation/H+ exchanger (1);	0.207197	0.35067	N	0.003474	T	0.08935	0.0221	L	0.50333	1.59	0.09310	N	1	B	0.33940	0.433	B	0.29524	0.103	T	0.24083	-1.0170	10	0.30854	T	0.27	-10.0142	8.3017	0.32019	0.321:0.0:0.679:0.0	.	318	Q4G0N8	S9A10_HUMAN	I	318	ENSP00000306627:T318I	ENSP00000306627:T318I	T	-	2	0	SLC9A10	113465806	0.002000	0.14202	0.319000	0.25293	0.040000	0.13550	0.415000	0.21181	0.429000	0.26202	-0.192000	0.12808	ACA		PASS	0.249	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		6	44	6	44	---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121340300	121340300	+	Silent	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:121340300G>T	ENST00000338040.4	+	3	438	c.24G>T	c.(22-24)ccG>ccT	p.P8P		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	8					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P8P(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GCAGATCCCCGCCAGGGCACC	0.532																																						uc003eeg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(22-24)CCG>CCT		F-box protein 40							73.0	75.0	75.0					3																	121340300		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340300G>T	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.24G>T	3.37:g.121340300G>T							p.P8P	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	234	+			8					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.24G>T	CCDS33835.1																																																																																				PASS	0.532	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		138	240	138	240	---	---	---	---
NCK1	4690	broad.mit.edu	37	3	136665037	136665037	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:136665037A>G	ENST00000481752.1	+	3	1003	c.839A>G	c.(838-840)aAt>aGt	p.N280S	NCK1_ENST00000469404.1_Missense_Mutation_p.N216S|NCK1_ENST00000288986.2_Missense_Mutation_p.N280S			P16333	NCK1_HUMAN	NCK adaptor protein 1	280					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)	p.N280S(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TTTGCTGGCAATCCTTGGTAT	0.423																																						uc003erh.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(838-840)AAT>AGT		NCK adaptor protein 1							175.0	161.0	166.0					3																	136665037		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136665037A>G	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.839A>G	3.37:g.136665037A>G	ENSP00000417273:p.Asn280Ser					NCK1_uc011bme.1_Missense_Mutation_p.N216S	p.N280S	NM_006153	NP_006144	P16333	NCK1_HUMAN			3	946	+			280					B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.839A>G	CCDS3092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.13|13.13	2.145810|2.145810	0.37923|0.37923	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000488930;ENST00000496489|ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T|T;T;T;T	0.32272|0.39997	1.46|1.05;1.05;1.05;2.35	6.06|6.06	4.92|4.92	0.64577|0.64577	.|SH2 motif (1);	.|0.046152	.|0.85682	.|D	.|0.000000	T|T	0.37183|0.37183	0.0994|0.0994	L|L	0.51422|0.51422	1.61|1.61	0.42961|0.42961	D|D	0.994402|0.994402	.|B;B	.|0.25312	.|0.123;0.123	.|B;B	.|0.22753	.|0.041;0.028	T|T	0.21793|0.21793	-1.0235|-1.0235	7|10	0.87932|0.59425	D|D	0|0.04	-5.5375|-5.5375	10.3555|10.3555	0.43960|0.43960	0.9232:0.0:0.0768:0.0|0.9232:0.0:0.0768:0.0	.|.	.|216;280	.|B7Z751;P16333	.|.;NCK1_HUMAN	V|S	155;135|280;280;216;83	ENSP00000417729:I155V|ENSP00000288986:N280S;ENSP00000417273:N280S;ENSP00000419631:N216S;ENSP00000418060:N83S	ENSP00000417729:I155V|ENSP00000288986:N280S	I|N	+|+	1|2	0|0	NCK1|NCK1	138147727|138147727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.734000|5.734000	0.68580|0.68580	1.122000|1.122000	0.41944|0.41944	0.528000|0.528000	0.53228|0.53228	ATC|AAT		PASS	0.423	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		109	522	109	522	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149374963	149374963	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:149374963C>A	ENST00000465804.1	-	3	387	c.131G>T	c.(130-132)cGg>cTg	p.R44L	WWTR1-AS1_ENST00000479752.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.R44L|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1_ENST00000467467.1_Missense_Mutation_p.R44L	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	44					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R44L(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GATCTTCTTCCGCCACGAGCT	0.627			T	CAMTA1	epitheliod hemangioendothelioma																																	uc003exe.2				Dom	yes		3	3q23-q24	607392		WW domain containing transcription regulator 1			M					1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(130-132)CGG>CTG		WW domain containing transcription regulator 1							28.0	29.0	28.0					3																	149374963		2202	4300	6502	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149374963C>A	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.131G>T	3.37:g.149374963C>A	ENSP00000419465:p.Arg44Leu					WWTR1_uc003exf.2_Missense_Mutation_p.R44L|WWTR1_uc011bns.1_Missense_Mutation_p.R44L|WWTR1_uc003exh.2_Missense_Mutation_p.R44L|uc010hvg.1_RNA|uc003exi.1_5'Flank	p.R44L	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		1	147	-			44					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.131G>T	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416422	0.96092	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000479238;ENST00000485352;ENST00000475579	T;T;T;T	0.58506	0.39;0.39;0.39;0.33	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	M	0.71206	2.165	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.78735	-0.2088	10	0.72032	D	0.01	-30.6633	17.5822	0.87971	0.0:1.0:0.0:0.0	.	44	Q9GZV5	WWTR1_HUMAN	L	44	ENSP00000419465:R44L;ENSP00000353847:R44L;ENSP00000419234:R44L;ENSP00000418580:R44L	ENSP00000353847:R44L	R	-	2	0	WWTR1	150857653	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.377000	0.79668	2.243000	0.73865	0.462000	0.41574	CGG		PASS	0.627	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		11	35	11	35	---	---	---	---
OTOL1	131149	broad.mit.edu	37	3	161221714	161221714	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:161221714C>A	ENST00000327928.4	+	4	1418	c.1418C>A	c.(1417-1419)tCt>tAt	p.S473Y		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	473	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.S473Y(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GAGGAAACTTCTGGAATTTCA	0.388																																						uc011bpb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)TCT>TAT		otolin-1 precursor							35.0	33.0	34.0					3																	161221714		1827	4082	5909	SO:0001583	missense	131149					collagen		g.chr3:161221714C>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1418C>A	3.37:g.161221714C>A	ENSP00000330808:p.Ser473Tyr						p.S473Y	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	1418	+			473			C1q.			Missense_Mutation	SNP	ENST00000327928.4	37	c.1418C>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713504	0.30413	.	.	ENSG00000182447	ENST00000327928	D	0.90563	-2.69	5.27	2.34	0.29019	Complement C1q protein (1);	1.714000	0.02912	N	0.136786	D	0.83963	0.5368	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.17098	0.017	T	0.68484	-0.5396	10	0.17832	T	0.49	.	7.497	0.27494	0.0:0.624:0.0:0.376	.	473	A6NHN0	OTOL1_HUMAN	Y	473	ENSP00000330808:S473Y	ENSP00000330808:S473Y	S	+	2	0	OTOL1	162704408	0.002000	0.14202	0.002000	0.10522	0.778000	0.44026	0.089000	0.15002	0.526000	0.28541	0.558000	0.71614	TCT		PASS	0.388	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		22	73	22	73	---	---	---	---
KCNMB3	27094	broad.mit.edu	37	3	178968856	178968856	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:178968856A>C	ENST00000314235.5	-	1	547	c.36T>G	c.(34-36)caT>caG	p.H12Q	KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000349697.2_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000497599.1_Intron	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	12					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.H12Q(1)		NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	ATGCAACAAAATGAAATCCCA	0.398																																						uc003fjm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CAT>CAG		calcium-activated potassium channel beta 3							134.0	132.0	133.0					3																	178968856		2203	4300	6503	SO:0001583	missense	27094				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity	g.chr3:178968856A>C	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.36T>G	3.37:g.178968856A>C	ENSP00000319370:p.His12Gln					KCNMB3_uc003fjl.3_Intron|KCNMB3_uc011bqc.1_Intron|KCNMB3_uc003fjn.2_5'UTR|KCNMB3_uc003fjo.2_Intron|KCNMB3_uc003fjp.1_Intron	p.H12Q	NM_014407	NP_055222	Q9NPA1	KCMB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		1	548	-	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		12			Cytoplasmic (Potential).		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000314235.5	37	c.36T>G	CCDS3226.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295532	0.23564	.	.	ENSG00000171121	ENST00000314235	T	0.09817	2.94	4.27	-7.64	0.01286	.	6.241070	0.00166	N	0.000001	T	0.04318	0.0119	N	0.08118	0	0.09310	N	0.999999	B	0.11235	0.004	B	0.06405	0.002	T	0.31558	-0.9939	10	0.19590	T	0.45	-2.5784	3.6293	0.08126	0.3712:0.1144:0.402:0.1124	.	12	Q9NPA1	KCMB3_HUMAN	Q	12	ENSP00000319370:H12Q	ENSP00000319370:H12Q	H	-	3	2	KCNMB3	180451550	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.994000	0.03716	-2.239000	0.00711	-2.109000	0.00356	CAT		PASS	0.398	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348484.1			41	302	41	302	---	---	---	---
LAMP3	27074	broad.mit.edu	37	3	182871775	182871775	+	Missense_Mutation	SNP	C	C	T	rs150380664	byFrequency	TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:182871775C>T	ENST00000265598.3	-	2	709	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	LAMP3_ENST00000466939.1_Missense_Mutation_p.V128I	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	152	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.V152I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTGTGGCTGACGGTTGATGAA	0.522																																						uc003flh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(454-456)GTC>ATC		lysosomal-associated membrane protein 3		C	ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	359.0	362.0	361.0		454	-3.2	0.0	3	dbSNP_134	361	0,8600		0,0,4300	yes	missense	LAMP3	NM_014398.3	29	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	152/417	182871775	7,12999	2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182871775C>T	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.454G>A	3.37:g.182871775C>T	ENSP00000265598:p.Val152Ile						p.V152I	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	678	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		152			Lumenal (Potential).|Thr-rich.		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.454G>A	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	c	9.245	1.039291	0.19669	0.001589	0.0	ENSG00000078081	ENST00000265598;ENST00000466939;ENST00000476015;ENST00000470251	T;T;T;T	0.50277	1.5;1.5;0.76;0.75	5.69	-3.18	0.05186	.	1.260870	0.05427	N	0.545261	T	0.28599	0.0708	N	0.17674	0.51	0.09310	N	1	B	0.22800	0.075	B	0.19946	0.027	T	0.13469	-1.0508	10	0.24483	T	0.36	-0.0595	5.9149	0.19050	0.0:0.2865:0.3535:0.3599	.	152	Q9UQV4	LAMP3_HUMAN	I	152;128;152;128	ENSP00000265598:V152I;ENSP00000418912:V128I;ENSP00000419059:V152I;ENSP00000420589:V128I	ENSP00000265598:V152I	V	-	1	0	LAMP3	184354469	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.869000	0.01643	-1.156000	0.02818	-0.794000	0.03295	GTC		PASS	0.522	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			54	664	54	664	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193029676	193029676	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:193029676A>G	ENST00000342358.4	-	20	2491	c.2374T>C	c.(2374-2376)Tgt>Cgt	p.C792R	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	792						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.C792R(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAATGGTAACAGCTTCCTCCT	0.393																																						uc011bsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(2374-2376)TGT>CGT		ATPase type 13A5							145.0	133.0	137.0					3																	193029676		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193029676A>G	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2374T>C	3.37:g.193029676A>G	ENSP00000341942:p.Cys792Arg						p.C792R	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	20	2374	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		792					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2374T>C	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	A	6.688	0.495628	0.12762	.	.	ENSG00000187527	ENST00000342358	D	0.83837	-1.77	5.44	-5.59	0.02505	HAD-like domain (1);	1.552730	0.03177	N	0.171566	T	0.65176	0.2666	N	0.24115	0.695	0.09310	N	0.999997	B	0.17268	0.021	B	0.15052	0.012	T	0.48031	-0.9070	10	0.25106	T	0.35	2.2476	0.4128	0.00444	0.2148:0.264:0.1666:0.3546	.	792	Q4VNC0	AT135_HUMAN	R	792	ENSP00000341942:C792R	ENSP00000341942:C792R	C	-	1	0	ATP13A5	194512370	0.000000	0.05858	0.004000	0.12327	0.192000	0.23643	-1.208000	0.03005	-0.555000	0.06142	0.528000	0.53228	TGT		PASS	0.393	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		30	301	30	301	---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197665624	197665624	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr3:197665624T>G	ENST00000265239.6	-	5	734	c.310A>C	c.(310-312)Acg>Ccg	p.T104P	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.T104P|IQCG_ENST00000453254.1_Missense_Mutation_p.T104P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	104						extracellular vesicular exosome (GO:0070062)		p.T104P(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TCTAGATTCGTTCCTTCTAGA	0.358																																						uc003fyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)ACG>CCG		IQ motif containing G							195.0	212.0	206.0					3																	197665624		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197665624T>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.310A>C	3.37:g.197665624T>G	ENSP00000265239:p.Thr104Pro					IQCG_uc003fyn.2_Missense_Mutation_p.T6P|IQCG_uc003fyp.2_Missense_Mutation_p.T104P|IQCG_uc003fyq.3_Missense_Mutation_p.T104P	p.T104P	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	4	456	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		104					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.310A>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	T	8.019	0.759157	0.15846	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.45668	0.9;0.9;0.99;0.89	4.03	2.79	0.32731	.	2.564670	0.01070	N	0.004808	T	0.31606	0.0802	N	0.24115	0.695	0.09310	N	1	B;B	0.31790	0.34;0.001	B;B	0.31686	0.134;0.002	T	0.23797	-1.0178	10	0.30078	T	0.28	-1.7997	6.931	0.24442	0.0:0.0:0.3206:0.6794	.	104;104	C9JKX8;Q9H095	.;IQCG_HUMAN	P	104;104;104;85	ENSP00000265239:T104P;ENSP00000407736:T104P;ENSP00000389897:T104P;ENSP00000406411:T85P	ENSP00000265239:T104P	T	-	1	0	IQCG	199150021	0.023000	0.18921	0.003000	0.11579	0.001000	0.01503	1.727000	0.38095	1.597000	0.50072	0.456000	0.33151	ACG		PASS	0.358	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		46	842	46	842	---	---	---	---
UVSSA	57654	broad.mit.edu	37	4	1379710	1379710	+	Silent	SNP	C	C	T	rs529975173		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:1379710C>T	ENST00000389851.4	+	14	2538	c.2091C>T	c.(2089-2091)caC>caT	p.H697H	UVSSA_ENST00000511563.1_Silent_p.H248H|UVSSA_ENST00000507531.1_Silent_p.H697H|UVSSA_ENST00000511216.1_Silent_p.H697H|UVSSA_ENST00000512728.1_Silent_p.H248H	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	697					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)	p.H697H(1)									AGAAGAAGCACGAGAAGTTTT	0.572																																						uc003gde.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2089-2091)CAC>CAT		hypothetical protein LOC57654							151.0	125.0	134.0					4																	1379710		2203	4300	6503	SO:0001819	synonymous_variant	57654							g.chr4:1379710C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.2091C>T	4.37:g.1379710C>T						KIAA1530_uc010ibv.2_Silent_p.H248H	p.H697H	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		14	2538	+			697					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.2091C>T	CCDS33938.1																																																																																				PASS	0.572	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		30	47	30	47	---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2944035	2944035	+	Silent	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:2944035C>T	ENST00000314262.6	-	14	1983	c.1935G>A	c.(1933-1935)tcG>tcA	p.S645S	NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000507120.1_5'Flank|NOP14_ENST00000416614.2_Silent_p.S645S|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Silent_p.S645S|NOP14_ENST00000398071.4_Silent_p.S645S	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	645					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.S645S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CGAGCAGTTCCGAGTTCTTCC	0.592																																						uc003ggj.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1933-1935)TCG>TCA		probable nucleolar complex protein 14							88.0	76.0	80.0					4																	2944035		2203	4300	6503	SO:0001819	synonymous_variant	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2944035C>T	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1935G>A	4.37:g.2944035C>T						C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Silent_p.S391S|NOP14_uc003ggk.3_Silent_p.S645S|NOP14_uc003ggl.2_Silent_p.S645S	p.S645S	NM_003703	NP_003694	P78316	NOP14_HUMAN			14	2007	-			645					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	c.1935G>A	CCDS33945.1																																																																																				PASS	0.592	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		29	44	29	44	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5578063	5578063	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:5578063T>C	ENST00000344408.5	-	18	3229	c.3176A>G	c.(3175-3177)aAc>aGc	p.N1059S	EVC2_ENST00000310917.2_Missense_Mutation_p.N979S|EVC2_ENST00000344938.1_Missense_Mutation_p.N1059S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1059					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.N1059S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCCAGGTTCGTTCAGAATCCC	0.612																																						uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(3175-3177)AAC>AGC		limbin							73.0	68.0	70.0					4																	5578063		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5578063T>C	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3176A>G	4.37:g.5578063T>C	ENSP00000342144:p.Asn1059Ser					EVC2_uc011bwb.1_Missense_Mutation_p.N499S|EVC2_uc003gik.2_Missense_Mutation_p.N979S	p.N1059S	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			18	3230	-			1059			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3176A>G	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	6.985	0.551865	0.13374	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.73681	-0.77;-0.76;-0.76	5.38	-5.27	0.02763	.	0.664574	0.15301	N	0.269624	T	0.44705	0.1306	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36359	-0.9751	10	0.16420	T	0.52	0.0061	8.7152	0.34408	0.0:0.5397:0.119:0.3413	.	1059	Q86UK5	LBN_HUMAN	S	1059;979;1059	ENSP00000339954:N1059S;ENSP00000311683:N979S;ENSP00000342144:N1059S	ENSP00000311683:N979S	N	-	2	0	EVC2	5628964	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-0.805000	0.04530	-0.908000	0.03857	0.402000	0.26972	AAC		PASS	0.612	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		40	41	40	41	---	---	---	---
RHOH	399	broad.mit.edu	37	4	40245100	40245100	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:40245100G>A	ENST00000381799.5	+	3	818	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	RHOH_ENST00000505618.1_Missense_Mutation_p.A32T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	32					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.A32T(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTTCCCGGAGGCCTACAAGCC	0.587																																						uc003guz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(94-96)GCC>ACC		ras homolog gene family, member H precursor							164.0	130.0	141.0					4																	40245100		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245100G>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.94G>A	4.37:g.40245100G>A	ENSP00000371219:p.Ala32Thr						p.A32T	NM_004310	NP_004301	Q15669	RHOH_HUMAN			3	818	+			32						Missense_Mutation	SNP	ENST00000381799.5	37	c.94G>A	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	15.03	2.711226	0.48517	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.65	3.6	0.41247	Small GTP-binding protein domain (1);	0.613083	0.16366	N	0.217548	T	0.40015	0.1100	N	0.04018	-0.295	0.23685	N	0.997111	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	10	0.87932	D	0	.	4.4164	0.11459	0.1468:0.0:0.4816:0.3716	.	32	Q15669	RHOH_HUMAN	T	32	ENSP00000425010:A32T;ENSP00000423384:A32T;ENSP00000426439:A32T;ENSP00000371219:A32T	ENSP00000371219:A32T	A	+	1	0	RHOH	39921495	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.220000	0.17660	1.317000	0.45149	0.591000	0.81541	GCC		PASS	0.587	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		32	73	32	73	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47556863	47556863	+	Missense_Mutation	SNP	G	G	A	rs561130132		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:47556863G>A	ENST00000273859.3	+	11	2025	c.1756G>A	c.(1756-1758)Gac>Aac	p.D586N	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	586					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D586N(2)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTACATTATCGACTTTTTCAT	0.413																																						uc003gxk.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|pancreas(1)	3						c.(1756-1758)GAC>AAC		ATPase, class V, type 10D							118.0	117.0	117.0					4																	47556863		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47556863G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1756G>A	4.37:g.47556863G>A	ENSP00000273859:p.Asp586Asn					ATP10D_uc003gxl.1_Intron	p.D586N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			11	1920	+			586			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1756G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004461	0.74932	.	.	ENSG00000145246	ENST00000273859	T	0.64260	-0.09	5.19	5.19	0.71726	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.059108	0.64402	D	0.000003	T	0.80314	0.4600	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82548	-0.0402	10	0.72032	D	0.01	-24.2762	18.0879	0.89463	0.0:0.0:1.0:0.0	.	586	Q9P241	AT10D_HUMAN	N	586	ENSP00000273859:D586N	ENSP00000273859:D586N	D	+	1	0	ATP10D	47251620	1.000000	0.71417	0.955000	0.39395	0.046000	0.14306	9.779000	0.99018	2.565000	0.86533	0.655000	0.94253	GAC		PASS	0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		48	147	48	147	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126238160	126238160	+	Silent	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:126238160G>T	ENST00000394329.3	+	1	607	c.594G>T	c.(592-594)gcG>gcT	p.A198A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A198A(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCGAGGGAGCGTTCCTGCATC	0.652											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(592-594)GCG>GCT		FAT tumor suppressor homolog 4 precursor							45.0	53.0	51.0					4																	126238160		2104	4213	6317	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238160G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.594G>T	4.37:g.126238160G>T			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.A198A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	594	+			198			Cadherin 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.594G>T	CCDS3732.3																																																																																				PASS	0.652	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	39	11	39	---	---	---	---
SLC10A7	84068	broad.mit.edu	37	4	147442805	147442805	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:147442805C>A	ENST00000507030.1	-	1	64	c.65G>T	c.(64-66)gGa>gTa	p.G22V	SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000511374.1_Missense_Mutation_p.G22V|SLC10A7_ENST00000394062.3_Missense_Mutation_p.G22V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.G22V|SLC10A7_ENST00000394059.4_Missense_Mutation_p.G22V|SLC10A7_ENST00000502607.1_Missense_Mutation_p.G22V|SLC10A7_ENST00000432059.2_Missense_Mutation_p.G22V|SLC10A7_ENST00000264986.3_Missense_Mutation_p.G22V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	22					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G22V(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					CAGTTTAGCTCCAGCGATCGC	0.522																																						uc010ioz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(64-66)GGA>GTA		solute carrier family 10 (sodium/bile acid							163.0	155.0	158.0					4																	147442805		2203	4300	6503	SO:0001583	missense	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147442805C>A	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.65G>T	4.37:g.147442805C>A	ENSP00000421275:p.Gly22Val					SLC10A7_uc003ikr.2_Missense_Mutation_p.G22V|SLC10A7_uc010ipa.2_Missense_Mutation_p.G22V|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.G22V|SLC10A7_uc003iku.3_RNA	p.G22V	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN			1	319	-	all_hematologic(180;0.151)		22			Helical; (Potential).		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	c.65G>T	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617034	0.28801	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000264986;ENST00000507030;ENST00000394062;ENST00000394059;ENST00000511374;ENST00000502607	.	.	.	5.58	-1.28	0.09318	.	0.582186	0.17911	N	0.157856	T	0.18923	0.0454	N	0.03608	-0.345	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.19289	-1.0310	9	0.33940	T	0.23	-0.0436	13.3488	0.60589	0.1625:0.1945:0.643:0.0	.	22;22;22;22	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	V	22	.	ENSP00000264986:G22V	G	-	2	0	SLC10A7	147662255	0.035000	0.19736	0.673000	0.29887	0.982000	0.71751	0.190000	0.17057	0.001000	0.14605	-0.315000	0.08773	GGA		PASS	0.522	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		70	163	70	163	---	---	---	---
RXFP1	59350	broad.mit.edu	37	4	159493927	159493927	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:159493927C>A	ENST00000307765.5	+	2	378	c.127C>A	c.(127-129)Cag>Aag	p.Q43K	RXFP1_ENST00000343542.5_Missense_Mutation_p.Q43K|RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000470033.1_Missense_Mutation_p.Q43K|RXFP1_ENST00000423548.1_Missense_Mutation_p.Q43K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	43	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.Q43K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTGCTTGCCTCAGCTCCTGCA	0.552																																						uc003ipz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)CAG>AAG		relaxin/insulin-like family peptide receptor 1							129.0	133.0	132.0					4																	159493927		2076	4225	6301	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159493927C>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.127C>A	4.37:g.159493927C>A	ENSP00000303248:p.Gln43Lys					RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.Q43K|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.Q43K|RXFP1_uc010iqm.2_Missense_Mutation_p.Q43K|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron	p.Q43K	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	2	209	+	all_hematologic(180;0.24)	Renal(120;0.0854)	43			Extracellular (Potential).|LDL-receptor class A.		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.127C>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525895	0.85600	.	.	ENSG00000171509	ENST00000307765;ENST00000423548;ENST00000343542;ENST00000470033	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	4.96	4.96	0.65561	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.96219	0.8767	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.71674	0.986;0.998;0.994;0.986	D;D;D;D	0.71870	0.93;0.975;0.945;0.93	D	0.95616	0.8676	10	0.38643	T	0.18	.	16.9901	0.86351	0.0:1.0:0.0:0.0	.	43;43;43;43	B4DGP2;Q9HBX9-4;Q9HBX9-2;Q9HBX9	.;.;.;RXFP1_HUMAN	K	43	ENSP00000303248:Q43K;ENSP00000405841:Q43K;ENSP00000345889:Q43K;ENSP00000420712:Q43K	ENSP00000303248:Q43K	Q	+	1	0	RXFP1	159713377	1.000000	0.71417	0.988000	0.46212	0.568000	0.35870	7.205000	0.77881	2.296000	0.77279	0.563000	0.77884	CAG		PASS	0.552	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		69	150	69	150	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162577607	162577607	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:162577607C>A	ENST00000306100.5	-	7	1203	c.767G>T	c.(766-768)aGc>aTc	p.S256I	FSTL5_ENST00000379164.4_Missense_Mutation_p.S255I|FSTL5_ENST00000427802.2_Missense_Mutation_p.S255I|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.S255I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	256	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S256I(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGCAGTGATGCTTAGTTTCTG	0.403																																						uc003iqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(766-768)AGC>ATC		follistatin-like 5 isoform a							99.0	90.0	93.0					4																	162577607		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162577607C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.767G>T	4.37:g.162577607C>A	ENSP00000305334:p.Ser256Ile					FSTL5_uc003iqi.2_Missense_Mutation_p.S255I|FSTL5_uc010iqv.2_Missense_Mutation_p.S255I	p.S256I	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1203	-	all_hematologic(180;0.24)		256			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.767G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512058	0.64522	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.24	5.24	0.73138	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.258207	0.49305	D	0.000145	T	0.27832	0.0685	L	0.55213	1.73	0.80722	D	1	P;P;B	0.39352	0.669;0.518;0.046	B;B;B	0.40636	0.335;0.168;0.022	T	0.02893	-1.1097	10	0.56958	D	0.05	.	18.17	0.89742	0.0:1.0:0.0:0.0	.	255;255;256	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	256;255;255;255	ENSP00000305334:S256I;ENSP00000368462:S255I;ENSP00000389270:S255I;ENSP00000440409:S255I	ENSP00000305334:S256I	S	-	2	0	FSTL5	162797057	1.000000	0.71417	0.066000	0.19879	0.602000	0.36980	4.650000	0.61440	2.598000	0.87819	0.650000	0.86243	AGC		PASS	0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		27	64	27	64	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176594881	176594881	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:176594881G>T	ENST00000280187.7	-	4	382	c.337C>A	c.(337-339)Ctc>Atc	p.L113I	GPM6A_ENST00000515090.1_Missense_Mutation_p.L106I|GPM6A_ENST00000506894.1_Missense_Mutation_p.L102I|GPM6A_ENST00000393658.2_Missense_Mutation_p.L113I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	113					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.L113I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCCCATAGAGATCTTTGATG	0.423																																						uc003iuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CTC>ATC		glycoprotein M6A isoform 2							84.0	82.0	83.0					4																	176594881		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176594881G>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.337C>A	4.37:g.176594881G>T	ENSP00000280187:p.Leu113Ile					GPM6A_uc011ckj.1_Missense_Mutation_p.L106I|GPM6A_uc003iug.2_Missense_Mutation_p.L113I|GPM6A_uc003iuh.2_Missense_Mutation_p.L102I	p.L113I	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	1141	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	113			Cytoplasmic (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.337C>A	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942031	0.73557	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754;ENST00000507520;ENST00000513667;ENST00000512509;ENST00000505561;ENST00000505375;ENST00000513365	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	L	0.33753	1.03	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.994	D	0.98192	1.0463	10	0.18276	T	0.48	0.2083	20.1294	0.97995	0.0:0.0:1.0:0.0	.	106;102;113	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	I	113;113;102;106;105;50;50;50;50;50;50;50;113	ENSP00000280187:L113I;ENSP00000377268:L113I;ENSP00000421578:L102I;ENSP00000423984:L106I;ENSP00000422959:L105I;ENSP00000426984:L50I;ENSP00000426821:L50I;ENSP00000424075:L50I;ENSP00000421373:L50I;ENSP00000424443:L50I;ENSP00000425409:L50I;ENSP00000424125:L50I;ENSP00000423122:L113I	ENSP00000280187:L113I	L	-	1	0	GPM6A	176831875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.363000	0.97131	2.758000	0.94735	0.591000	0.81541	CTC		PASS	0.423	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			26	74	26	74	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183664378	183664378	+	Silent	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr4:183664378C>A	ENST00000511685.1	+	19	3558	c.3435C>A	c.(3433-3435)gtC>gtA	p.V1145V	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.V1145V			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1145					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V1145V(2)									AGCCTCCAGTCGTGAGTAGCA	0.483																																						uc003ivd.1																			2	Substitution - coding silent(2)		cervix(1)|lung(1)		0						c.(3433-3435)GTC>GTA		odz, odd Oz/ten-m homolog 3							68.0	69.0	68.0					4																	183664378		2006	4184	6190	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183664378C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3435C>A	4.37:g.183664378C>A						ODZ3_uc003ive.1_Silent_p.V551V	p.V1145V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	18	3472	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1145			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.3435C>A	CCDS47165.1																																																																																				PASS	0.483	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			20	61	20	61	---	---	---	---
TERT	7015	broad.mit.edu	37	5	1278882	1278882	+	Silent	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr5:1278882G>T	ENST00000310581.5	-	6	2217	c.2160C>A	c.(2158-2160)atC>atA	p.I720I	TERT_ENST00000334602.6_Silent_p.I720I|TERT_ENST00000296820.5_Silent_p.I720I|TERT_ENST00000508104.2_Silent_p.I720I	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	720	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.I720I(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TGTCCTGGGGGATGGTGTCGT	0.627									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			2	Unknown(1)|Substitution - coding silent(1)		lung(2)	lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(2158-2160)ATC>ATA		telomerase reverse transcriptase isoform 1							232.0	212.0	219.0					5																	1278882		2203	4300	6503	SO:0001819	synonymous_variant	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1278882G>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2160C>A	5.37:g.1278882G>T						TERT_uc003jbz.1_5'UTR|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Silent_p.I720I|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_RNA	p.I720I	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	2218	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		720			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.2160C>A	CCDS3861.2																																																																																				PASS	0.627	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			99	309	99	309	---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15937167	15937167	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr5:15937167G>A	ENST00000504595.1	+	4	1829	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	FBXL7_ENST00000329673.7_Missense_Mutation_p.A438T|FBXL7_ENST00000510662.1_Missense_Mutation_p.A403T|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	450					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.A450T(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCAGATCGTGGCCGCCAACTG	0.627																																						uc003jfn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1348-1350)GCC>ACC		F-box and leucine-rich repeat protein 7							41.0	45.0	44.0					5																	15937167		2078	4206	6284	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937167G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1348G>A	5.37:g.15937167G>A	ENSP00000423630:p.Ala450Thr						p.A450T	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1829	+			450			LRR 11.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1348G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114343	0.94339	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.53206	0.63;0.63;0.63	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.71836	-0.4472	10	0.44086	T	0.13	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	450	Q9UJT9	FBXL7_HUMAN	T	450;403;438	ENSP00000423630:A450T;ENSP00000425184:A403T;ENSP00000329632:A438T	ENSP00000329632:A438T	A	+	1	0	FBXL7	15990167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.521000	0.84997	0.650000	0.86243	GCC		PASS	0.627	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		32	47	32	47	---	---	---	---
ISL1	3670	broad.mit.edu	37	5	50680535	50680535	+	Silent	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr5:50680535G>A	ENST00000230658.7	+	2	774	c.189G>A	c.(187-189)ggG>ggA	p.G63G	CTD-2314G24.2_ENST00000559112.2_RNA|ISL1_ENST00000511384.1_Silent_p.G63G	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	63	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.G63G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TTAGGGATGGGAAAACCTACT	0.398																																						uc003jor.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(187-189)GGG>GGA		islet-1							197.0	186.0	189.0					5																	50680535		1869	4122	5991	SO:0001819	synonymous_variant	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50680535G>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.189G>A	5.37:g.50680535G>A						uc003joq.1_5'Flank	p.G63G	NM_002202	NP_002193	P61371	ISL1_HUMAN			2	737	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	63			LIM zinc-binding 1.		P20663|P47894	Silent	SNP	ENST00000230658.7	37	c.189G>A	CCDS43314.1																																																																																				PASS	0.398	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		71	239	71	239	---	---	---	---
ISL1	3670	broad.mit.edu	37	5	50683365	50683365	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr5:50683365G>C	ENST00000230658.7	+	3	845	c.260G>C	c.(259-261)aGc>aCc	p.S87T	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.S87T	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	87	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.S87T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				ATCGGCTTCAGCAAGAACGAC	0.612																																						uc003jor.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(259-261)AGC>ACC		islet-1							41.0	44.0	43.0					5																	50683365		2089	4205	6294	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50683365G>C	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.260G>C	5.37:g.50683365G>C	ENSP00000230658:p.Ser87Thr						p.S87T	NM_002202	NP_002193	P61371	ISL1_HUMAN			3	808	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	87			LIM zinc-binding 2.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.260G>C	CCDS43314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.99|17.99	3.522668|3.522668	0.64747|0.64747	.|.	.|.	ENSG00000016082|ENSG00000016082	ENST00000505475|ENST00000230658;ENST00000503187;ENST00000511384	.|D;D	.|0.87334	.|-2.24;-2.24	5.68|5.68	4.78|4.78	0.61160|0.61160	.|Zinc finger, LIM-type (5);	.|0.256580	.|0.47455	.|D	.|0.000240	D|D	0.85457|0.85457	0.5701|0.5701	L|L	0.59436|0.59436	1.845|1.845	0.53005|0.53005	D|D	0.999969|0.999969	.|B	.|0.19583	.|0.037	.|B	.|0.24974	.|0.057	T|T	0.81404|0.81404	-0.0948|-0.0948	6|10	0.87932|0.35671	D|T	0|0.21	.|.	15.3294|15.3294	0.74196|0.74196	0.0:0.0:0.8589:0.1411|0.0:0.0:0.8589:0.1411	.|.	.|87	.|P61371	.|ISL1_HUMAN	H|T	33|87	.|ENSP00000230658:S87T;ENSP00000422676:S87T	ENSP00000421737:Q33H|ENSP00000230658:S87T	Q|S	+|+	3|2	2|0	ISL1|ISL1	50719122|50719122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.727000|9.727000	0.98787|0.98787	1.342000|1.342000	0.45619|0.45619	0.555000|0.555000	0.69702|0.69702	CAG|AGC		PASS	0.612	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		9	33	9	33	---	---	---	---
CLINT1	9685	broad.mit.edu	37	5	157218922	157218922	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr5:157218922C>T	ENST00000411809.2	-	10	1373	c.1169G>A	c.(1168-1170)gGc>gAc	p.G390D	CLINT1_ENST00000523908.1_Missense_Mutation_p.G390D|CLINT1_ENST00000530742.1_Missense_Mutation_p.G372D|CLINT1_ENST00000523094.1_Missense_Mutation_p.G372D|CLINT1_ENST00000296951.5_Missense_Mutation_p.G372D	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	390					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.G372D(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAAGAACTCGCCACTGGAAGC	0.517																																					Colon(22;427 587 2170 6147 14291)	uc003lxj.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1168-1170)GGC>GAC		epsin 4							74.0	80.0	78.0					5																	157218922		2079	4236	6315	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218922C>T	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1169G>A	5.37:g.157218922C>T	ENSP00000388340:p.Gly390Asp					CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_5'UTR|CLINT1_uc003lxi.1_Missense_Mutation_p.G372D|CLINT1_uc011ddv.1_Missense_Mutation_p.G390D	p.G390D	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	1359	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	390					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.1169G>A	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.377141|4.377141	0.82682|0.82682	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.45668|.	0.89;0.89;0.93;0.89;0.9|.	6.02|6.02	4.21|4.21	0.49690|0.49690	.|.	0.386683|.	0.31041|.	N|.	0.008371|.	T|.	0.59702|.	0.2213|.	L|L	0.50333|0.50333	1.59|1.59	0.52501|0.52501	D|D	0.999959|0.999959	P;P|.	0.38250|.	0.624;0.535|.	B;B|.	0.39805|.	0.154;0.31|.	T|.	0.55159|.	-0.8184|.	10|.	0.25106|.	T|.	0.35|.	-7.6386|-7.6386	11.5024|11.5024	0.50446|0.50446	0.1404:0.7249:0.1347:0.0|0.1404:0.7249:0.1347:0.0	.|.	390;390|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	D|X	372;372;390;372;390|81	ENSP00000429345:G372D;ENSP00000433419:G372D;ENSP00000388340:G390D;ENSP00000296951:G372D;ENSP00000429824:G390D|.	ENSP00000296951:G372D|.	G|W	-|-	2|3	0|0	CLINT1|CLINT1	157151500|157151500	0.928000|0.928000	0.31464|0.31464	0.962000|0.962000	0.40283|0.40283	0.998000|0.998000	0.95712|0.95712	1.900000|1.900000	0.39828|0.39828	0.837000|0.837000	0.34925|0.34925	0.650000|0.650000	0.86243|0.86243	GGC|TGG		PASS	0.517	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		29	32	29	32	---	---	---	---
HMMR	3161	broad.mit.edu	37	5	162917423	162917423	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr5:162917423G>T	ENST00000358715.3	+	17	2023	c.1987G>T	c.(1987-1989)Gct>Tct	p.A663S	HMMR_ENST00000393915.4_Missense_Mutation_p.A664S|HMMR_ENST00000432118.2_Missense_Mutation_p.A577S|HMMR_ENST00000353866.3_Missense_Mutation_p.A648S|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	663	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.A663S(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	CTGTCAGCTTGCTAAAAAAAA	0.313																																						uc003lzf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1987-1989)GCT>TCT		hyaluronan-mediated motility receptor isoform b							54.0	57.0	56.0					5																	162917423		2201	4299	6500	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917423G>T	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1987G>T	5.37:g.162917423G>T	ENSP00000351554:p.Ala663Ser					HMMR_uc003lzh.2_Missense_Mutation_p.A664S|HMMR_uc003lzg.2_Missense_Mutation_p.A648S|HMMR_uc011dem.1_Missense_Mutation_p.A577S|uc003lzi.2_Intron	p.A663S	NM_012484	NP_036616	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2169	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663			Hyaluronic acid-binding (Potential).		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.1987G>T	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840136	0.32513	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	5.98	2.2	0.27929	.	0.349959	0.36268	N	0.002687	T	0.07999	0.0200	L	0.47716	1.5	0.22601	N	0.998946	P;P;P;P	0.47841	0.901;0.767;0.623;0.623	B;B;B;B	0.41510	0.359;0.359;0.327;0.327	T	0.21177	-1.0253	10	0.45353	T	0.12	-1.7454	7.7546	0.28917	0.187:0.0:0.698:0.1149	.	577;664;648;663	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	S	549;648;664;640;577;663	ENSP00000400527:A549S;ENSP00000185942:A648S;ENSP00000377492:A664S;ENSP00000402673:A577S;ENSP00000351554:A663S	ENSP00000185942:A648S	A	+	1	0	HMMR	162850001	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	3.125000	0.50469	0.428000	0.26173	-0.895000	0.02911	GCT		PASS	0.313	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		36	43	36	43	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12161866	12161866	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:12161866A>T	ENST00000379388.2	+	8	7014	c.6682A>T	c.(6682-6684)Act>Tct	p.T2228S	HIVEP1_ENST00000541134.1_Missense_Mutation_p.T93S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2228					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T2228S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCCTGTGAGTACTGACGAGGA	0.567																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6682-6684)ACT>TCT		human immunodeficiency virus type I enhancer							83.0	91.0	89.0					6																	12161866		2123	4249	6372	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161866A>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6682A>T	6.37:g.12161866A>T	ENSP00000368698:p.Thr2228Ser					HIVEP1_uc011diq.1_RNA	p.T2228S	NM_002114	NP_002105	P15822	ZEP1_HUMAN			8	6861	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2228					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6682A>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	a	8.201	0.798224	0.16397	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.29917	3.02;1.55	5.91	2.07	0.26955	.	0.992913	0.08157	N	0.989175	T	0.04588	0.0125	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.43782	-0.9370	10	0.07813	T	0.8	-4.5596	7.447	0.27217	0.1882:0.2216:0.5902:0.0	.	2228	P15822	ZEP1_HUMAN	S	2228;155;93;210	ENSP00000368698:T2228S;ENSP00000445617:T93S	ENSP00000368698:T2228S	T	+	1	0	HIVEP1	12269852	0.391000	0.25221	0.000000	0.03702	0.018000	0.09664	1.281000	0.33214	0.089000	0.17243	-0.140000	0.14226	ACT		PASS	0.567	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		17	64	17	64	---	---	---	---
HIST1H1C	3006	broad.mit.edu	37	6	26056216	26056216	+	Silent	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:26056216C>T	ENST00000343677.2	-	1	483	c.441G>A	c.(439-441)ccG>ccA	p.P147P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	147					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.P147P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGCTCTTCTTCGGAGTTGCGC	0.572																																						uc003nfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(439-441)CCG>CCA		histone cluster 1, H1c							67.0	80.0	76.0					6																	26056216		2202	4297	6499	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056216C>T	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.441G>A	6.37:g.26056216C>T							p.P147P	NM_005319	NP_005310	P16403	H12_HUMAN			1	484	-			147					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.441G>A	CCDS4577.1																																																																																				PASS	0.572	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		52	125	52	125	---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227222	28227222	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:28227222G>T	ENST00000343684.3	+	1	125	c.73G>T	c.(73-75)Ggg>Tgg	p.G25W	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	25								p.G25W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CAGCTCCTCGGGGAGCCCACC	0.662																																						uc003nkt.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(73-75)GGG>TGG		NFKB activating protein-like							34.0	33.0	33.0					6																	28227222		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227222G>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.73G>T	6.37:g.28227222G>T	ENSP00000345716:p.Gly25Trp					ZKSCAN4_uc011dlb.1_5'Flank	p.G25W	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	125	+			25					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.73G>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769182	0.31320	.	.	ENSG00000189134	ENST00000343684	T	0.14640	2.49	4.24	1.25	0.21368	.	1.827790	0.03240	N	0.180231	T	0.15349	0.0370	M	0.65975	2.015	0.09310	N	1	D	0.63046	0.992	P	0.58577	0.841	T	0.07888	-1.0749	10	0.66056	D	0.02	-2.5552	6.5845	0.22612	0.309:0.0:0.691:0.0	.	25	Q5M9Q1	NKAPL_HUMAN	W	25	ENSP00000345716:G25W	ENSP00000345716:G25W	G	+	1	0	NKAPL	28335201	0.002000	0.14202	0.043000	0.18650	0.016000	0.09150	0.251000	0.18257	0.125000	0.18397	0.655000	0.94253	GGG		PASS	0.662	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			35	65	35	65	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29595348	29595348	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:29595348G>C	ENST00000377034.4	-	6	907	c.572C>G	c.(571-573)gCg>gGg	p.A191G	GABBR1_ENST00000376977.3_Missense_Mutation_p.A191G|GABBR1_ENST00000355973.3_Missense_Mutation_p.A74G|GABBR1_ENST00000377016.4_Missense_Mutation_p.A129G|GABBR1_ENST00000377012.4_Missense_Mutation_p.A74G	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	191					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.A191G(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CATCTCCACCGCGGGCTGGCA	0.672																																						uc003nmt.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)|skin(1)	7						c.(571-573)GCG>GGG		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						13.0	9.0	10.0					6																	29595348		1965	3946	5911	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29595348G>C	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.572C>G	6.37:g.29595348G>C	ENSP00000366233:p.Ala191Gly					GABBR1_uc003nmp.3_Missense_Mutation_p.A74G|GABBR1_uc003nms.3_Missense_Mutation_p.A74G|GABBR1_uc003nmu.3_Missense_Mutation_p.A129G|GABBR1_uc011dlr.1_Missense_Mutation_p.A14G|GABBR1_uc011dls.1_Missense_Mutation_p.A191G	p.A191G	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			6	908	-			191			Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.572C>G	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716754	0.68844	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74	3.97	3.97	0.46021	Extracellular ligand-binding receptor (1);	0.164261	0.38381	N	0.001709	D	0.90648	0.7067	M	0.86953	2.85	0.58432	D	0.999998	B;B;B;P	0.40230	0.27;0.002;0.002;0.708	B;B;B;B	0.44133	0.442;0.001;0.001;0.442	D	0.92625	0.6111	10	0.87932	D	0	-11.7791	13.5486	0.61719	0.0:0.0:1.0:0.0	.	191;129;191;74	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	G	74;191;129;74;191	ENSP00000348248:A74G;ENSP00000366176:A191G;ENSP00000366215:A129G;ENSP00000366211:A74G;ENSP00000366233:A191G	ENSP00000348248:A74G	A	-	2	0	GABBR1	29703327	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.996000	0.76263	1.753000	0.51906	0.455000	0.32223	GCG		PASS	0.672	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			6	13	6	13	---	---	---	---
HLA-DMB	3109	broad.mit.edu	37	6	32905205	32905205	+	Silent	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:32905205G>T	ENST00000418107.2	-	3	628	c.366C>A	c.(364-366)acC>acA	p.T122T	HLA-DMB_ENST00000416244.2_Silent_p.T122T|AL645941.1_ENST00000390777.1_RNA|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.T154T	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	122	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.T122T(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TAAAAGGAGTGGTTTTGGCTA	0.507																																						uc003ocl.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(364-366)ACC>ACA		major histocompatibility complex, class II, DM							113.0	110.0	111.0					6																	32905205		2203	4300	6503	SO:0001819	synonymous_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32905205G>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.366C>A	6.37:g.32905205G>T						HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'UTR|HLA-DMB_uc010jue.1_5'UTR|HLA-DMB_uc010juf.1_5'UTR|HLA-DMB_uc011dql.1_Silent_p.T122T	p.T122T	NM_002118	NP_002109	P28068	DMB_HUMAN			3	599	-			122			Lumenal (Potential).|Ig-like C1-type.|Beta-2.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	ENST00000418107.2	37	c.366C>A	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993518	0.19043	.	.	ENSG00000242574	ENST00000414017	.	.	.	4.93	4.06	0.47325	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46803	-0.9165	4	.	.	.	.	9.11	0.36720	0.0993:0.0:0.9007:0.0	.	.	.	.	N	12	.	.	H	-	1	0	HLA-DMB	33013183	0.980000	0.34600	0.886000	0.34754	0.906000	0.53458	1.742000	0.38248	1.309000	0.44985	0.544000	0.68410	CAC		PASS	0.507	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		57	135	57	135	---	---	---	---
LHFPL5	222662	broad.mit.edu	37	6	35782540	35782540	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:35782540C>A	ENST00000373853.1	+	2	1008	c.630C>A	c.(628-630)gaC>gaA	p.D210E	LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000360215.1_Missense_Mutation_p.D210E			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	210					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)		p.D210E(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCCCTGACGACTACAAGGCAG	0.597																																						uc003olg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(628-630)GAC>GAA		lipoma HMGIC fusion partner-like 5							99.0	68.0	79.0					6																	35782540		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35782540C>A	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.630C>A	6.37:g.35782540C>A	ENSP00000362960:p.Asp210Glu						p.D210E	NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN			2	1007	+			210					B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.630C>A	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	C	9.174	1.021849	0.19433	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.75704	-0.96;-0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	L	0.33753	1.03	0.42239	D	0.99192	B	0.21606	0.058	B	0.20384	0.029	T	0.45381	-0.9265	10	0.18710	T	0.47	-6.4447	13.51	0.61506	0.0:0.9197:0.0:0.0803	.	210	Q8TAF8	TMHS_HUMAN	E	210	ENSP00000362960:D210E;ENSP00000353346:D210E	ENSP00000353346:D210E	D	+	3	2	LHFPL5	35890518	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.958000	0.56737	2.711000	0.92665	0.561000	0.74099	GAC		PASS	0.597	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		18	27	18	27	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49696509	49696509	+	Silent	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:49696509G>A	ENST00000393666.1	-	7	678	c.672C>T	c.(670-672)acC>acT	p.T224T	CRISP3_ENST00000371159.4_Silent_p.T255T|CRISP3_ENST00000433368.2_Silent_p.T247T|CRISP3_ENST00000423399.2_Silent_p.T134T|CRISP3_ENST00000263045.4_Silent_p.T237T			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	224	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.T224T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GATGTTTACAGGTTAATGTGA	0.378																																						uc003ozs.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(670-672)ACC>ACT		cysteine-rich secretory protein 3 precursor							169.0	153.0	158.0					6																	49696509		2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49696509G>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.672C>T	6.37:g.49696509G>A							p.T224T	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		8	687	-	Lung NSC(77;0.0161)		224					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.672C>T																																																																																					PASS	0.378	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		34	176	34	176	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76734920	76734920	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:76734920T>A	ENST00000369950.3	-	5	742	c.553A>T	c.(553-555)Att>Ttt	p.I185F	IMPG1_ENST00000369963.3_Missense_Mutation_p.I107F	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.I185F(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)				CCTGTTGAAATGACAATGGTT	0.323																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(553-555)ATT>TTT		interphotoreceptor matrix proteoglycan 1							109.0	114.0	112.0					6																	76734920		2203	4297	6500	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76734920T>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.553A>T	6.37:g.76734920T>A	ENSP00000358966:p.Ile185Phe						p.I185F	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			5	683	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	185						Missense_Mutation	SNP	ENST00000369950.3	37	c.553A>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	1.489	-0.555254	0.03967	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.79554	2.14;-1.28	5.02	-9.67	0.00531	.	1.385570	0.04415	N	0.366601	T	0.17874	0.0429	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	9	.	.	.	.	2.7147	0.05184	0.1498:0.1919:0.4037:0.2546	.	185	Q17R60	IMPG1_HUMAN	F	185;107	ENSP00000358966:I185F;ENSP00000358980:I107F	.	I	-	1	0	IMPG1	76791640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.550000	0.02180	-1.330000	0.02255	-2.210000	0.00300	ATT		PASS	0.323	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		48	107	48	107	---	---	---	---
CYB5R4	51167	broad.mit.edu	37	6	84650271	84650271	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:84650271G>T	ENST00000369681.5	+	14	1437	c.1297G>T	c.(1297-1299)Gat>Tat	p.D433Y	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	433					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.D433Y(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AACAGAAGATGATATAATTTG	0.274																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	uc003pkf.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1297-1299)GAT>TAT		cytochrome b5 reductase 4							55.0	59.0	58.0					6																	84650271		2201	4297	6498	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84650271G>T	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1297G>T	6.37:g.84650271G>T	ENSP00000358695:p.Asp433Tyr						p.D433Y	NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	14	1429	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	433					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.1297G>T	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198509	0.79015	.	.	ENSG00000065615	ENST00000369681	D	0.96041	-3.89	5.81	5.81	0.92471	Oxidoreductase FAD/NAD(P)-binding (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99410	1.0930	10	0.87932	D	0	.	19.6733	0.95918	0.0:0.0:1.0:0.0	.	433	Q7L1T6	NB5R4_HUMAN	Y	433	ENSP00000358695:D433Y	ENSP00000358695:D433Y	D	+	1	0	CYB5R4	84706990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.673000	0.74482	2.746000	0.94184	0.655000	0.94253	GAT		PASS	0.274	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		22	73	22	73	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118596691	118596691	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:118596691G>T	ENST00000360388.4	+	5	908	c.707G>T	c.(706-708)tGg>tTg	p.W236L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	236					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.W236L(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTAACGTCTGGGAAGAATAC	0.438																																						uc003pxx.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(706-708)TGG>TTG		solute carrier family 35, member F1							107.0	106.0	107.0					6																	118596691		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118596691G>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.707G>T	6.37:g.118596691G>T	ENSP00000353557:p.Trp236Leu					SLC35F1_uc003pxy.1_Missense_Mutation_p.W41L	p.W236L	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	5	908	+			236			Helical; (Potential).		E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.707G>T	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640863	0.67244	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.07	5.07	0.68467	.	0.168459	0.52532	D	0.000066	T	0.08403	0.0209	N	0.00313	-1.665	0.51767	D	0.99993	B	0.17852	0.024	B	0.23275	0.045	T	0.46048	-0.9219	9	0.02654	T	1	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	236	Q5T1Q4	S35F1_HUMAN	L	236	.	ENSP00000353557:W236L	W	+	2	0	SLC35F1	118703384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.264000	0.78432	2.780000	0.95670	0.655000	0.94253	TGG		PASS	0.438	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		26	102	26	102	---	---	---	---
MYB	4602	broad.mit.edu	37	6	135511481	135511481	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:135511481G>A	ENST00000367814.4	+	5	709	c.523G>A	c.(523-525)Gga>Aga	p.G175R	MYB_ENST00000528774.1_Missense_Mutation_p.G175R|MYB_ENST00000525369.1_Missense_Mutation_p.G175R|MYB_ENST00000533624.1_Missense_Mutation_p.G175R|MYB_ENST00000341911.5_Missense_Mutation_p.G175R|MYB_ENST00000534044.1_Missense_Mutation_p.G175R|MYB_ENST00000534121.1_Missense_Mutation_p.G175R|MYB_ENST00000316528.8_Missense_Mutation_p.G175R|MYB_ENST00000420123.2_Missense_Mutation_p.G151R|MYB_ENST00000442647.2_Missense_Mutation_p.G175R|MYB_ENST00000527615.1_Missense_Mutation_p.G175R|MYB_ENST00000531845.1_3'UTR	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	175	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G175R(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GCTACTGCCTGGACGGTAATA	0.388			T	NFIB	adenoid cystic carcinoma																																	uc003qfc.2				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(523-525)GGA>AGA		v-myb myeloblastosis viral oncogene homolog							44.0	48.0	47.0					6																	135511481		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135511481G>A		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.523G>A	6.37:g.135511481G>A	ENSP00000356788:p.Gly175Arg					MYB_uc003qfh.2_Missense_Mutation_p.G175R|MYB_uc003qfi.2_Missense_Mutation_p.G175R|MYB_uc010kgi.2_Missense_Mutation_p.G175R|MYB_uc003qfq.2_Missense_Mutation_p.G175R|MYB_uc010kgj.2_Missense_Mutation_p.G175R|MYB_uc003qfo.2_Missense_Mutation_p.G175R|MYB_uc003qfu.2_Missense_Mutation_p.G175R|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Intron|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Intron|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.G175R|MYB_uc003qgd.1_5'UTR	p.G175R	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	5	722	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	175			H-T-H motif (By similarity).|HTH myb-type 3.|Interaction with HIPK2 and NLK (By similarity).		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.523G>A	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011907	0.93346	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.81	5.81	0.92471	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.046228	0.85682	D	0.000000	T	0.79592	0.4472	H	0.94423	3.535	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.84513	0.0623	10	0.87932	D	0	-16.3809	20.0726	0.97729	0.0:0.0:1.0:0.0	.	175;175;175;175;175;175;175;175;175	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	R	175;175;175;175;175;175;151;175;175;175;175;175;129	ENSP00000339992:G175R;ENSP00000410825:G175R;ENSP00000326328:G175R;ENSP00000356788:G175R;ENSP00000433227:G175R;ENSP00000435938:G175R;ENSP00000434723:G175R;ENSP00000432851:G175R;ENSP00000435055:G175R;ENSP00000436605:G175R	ENSP00000237302:G175R	G	+	1	0	MYB	135553174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.738000	0.93877	0.655000	0.94253	GGA		PASS	0.388	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			11	38	11	38	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151293098	151293098	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:151293098G>C	ENST00000367321.3	+	20	2303	c.2029G>C	c.(2029-2031)Gtg>Ctg	p.V677L	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	677	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.V677L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCTGTGTTCGTGCATGCGGG	0.448																																						uc003qob.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2029-2031)GTG>CTG		methylenetetrahydrofolate dehydrogenase (NADP+							131.0	120.0	123.0					6																	151293098		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151293098G>C	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2029G>C	6.37:g.151293098G>C	ENSP00000356290:p.Val677Leu					MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.V678L|MTHFD1L_uc003qoc.2_Missense_Mutation_p.V625L	p.V677L	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	20	2297	+		Ovarian(120;0.128)	677			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.2029G>C	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558491	0.86231	.	.	ENSG00000120254	ENST00000367321	T	0.29655	1.56	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.91663	3.23	0.80722	D	1	D;D;D	0.69078	0.997;0.992;0.994	D;D;D	0.70016	0.952;0.967;0.928	T	0.67476	-0.5661	10	0.62326	D	0.03	.	18.8518	0.92235	0.0:0.0:1.0:0.0	.	678;432;677	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	L	677	ENSP00000356290:V677L	ENSP00000356290:V677L	V	+	1	0	MTHFD1L	151334791	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.405000	0.97313	2.738000	0.93877	0.655000	0.94253	GTG		PASS	0.448	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		65	144	65	144	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151917692	151917692	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:151917692G>A	ENST00000239374.7	+	9	1789	c.1690G>A	c.(1690-1692)Gcc>Acc	p.A564T	CCDC170_ENST00000367290.5_Missense_Mutation_p.A564T	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	564								p.A564T(1)									AGCCAAACTGGCCGACACCAA	0.468																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1690-1692)GCC>ACC		hypothetical protein LOC80129							88.0	94.0	92.0					6																	151917692		2068	4212	6280	SO:0001583	missense	80129							g.chr6:151917692G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1690G>A	6.37:g.151917692G>A	ENSP00000239374:p.Ala564Thr						p.A564T	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	9	1779	+		Ovarian(120;0.126)	564			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1690G>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157799	0.38119	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09445	2.98;2.98	5.63	3.65	0.41850	.	0.301431	0.32533	N	0.005961	T	0.05044	0.0135	L	0.57536	1.79	0.36691	D	0.87956	B	0.29862	0.259	B	0.29862	0.108	T	0.16897	-1.0387	10	0.17369	T	0.5	-11.3966	13.4133	0.60954	0.0:0.0:0.5681:0.4319	.	564	Q8IYT3	CF097_HUMAN	T	564	ENSP00000239374:A564T;ENSP00000356259:A564T	ENSP00000239374:A564T	A	+	1	0	C6orf97	151959385	1.000000	0.71417	0.995000	0.50966	0.429000	0.31625	1.425000	0.34859	1.356000	0.45884	0.655000	0.94253	GCC		PASS	0.468	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		36	65	36	65	---	---	---	---
T	6862	broad.mit.edu	37	6	166572066	166572066	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:166572066T>A	ENST00000296946.2	-	9	1513	c.1045A>T	c.(1045-1047)Agc>Tgc	p.S349C	T_ENST00000366871.3_Missense_Mutation_p.S291C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	349					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S349C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GACCACAGGCTGGGGTACTGA	0.652									Chordoma, Familial Clustering of																													uc003quu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1045-1047)AGC>TGC		transcription factor T							13.0	16.0	15.0					6																	166572066		2172	4273	6445	SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166572066T>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1045A>T	6.37:g.166572066T>A	ENSP00000296946:p.Ser349Cys					T_uc003qut.1_Missense_Mutation_p.S350C|T_uc003quv.1_Missense_Mutation_p.S291C	p.S349C	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1538	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	349					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1045A>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575393	0.28092	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.83992	-1.71;-1.79	4.48	3.32	0.38043	.	0.302362	0.33875	N	0.004477	T	0.59689	0.2212	L	0.48218	1.51	0.49798	D	0.999829	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.001;0.008;0.001	T	0.56751	-0.7927	10	0.33940	T	0.23	.	4.9169	0.13851	0.1623:0.0886:0.0:0.7491	.	291;349;291	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	C	349;349;291	ENSP00000296946:S349C;ENSP00000355836:S291C	ENSP00000296946:S349C	S	-	1	0	T	166492056	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.086000	0.57664	0.680000	0.31366	0.533000	0.62120	AGC		PASS	0.652	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		5	13	5	13	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170628197	170628197	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr6:170628197C>G	ENST00000476287.1	+	2	1827	c.1719C>G	c.(1717-1719)gaC>gaG	p.D573E	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.D596E|FAM120B_ENST00000540480.1_Missense_Mutation_p.D585E	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	573					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D573E(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGGTTTCAGACACTGAAATCT	0.403																																						uc003qxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1717-1719)GAC>GAG		family with sequence similarity 120B							41.0	45.0	44.0					6																	170628197		2195	4294	6489	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170628197C>G	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1719C>G	6.37:g.170628197C>G	ENSP00000417970:p.Asp573Glu					FAM120B_uc003qxo.1_Missense_Mutation_p.D573E|FAM120B_uc011ehd.1_Intron	p.D573E	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1827	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	573					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1719C>G	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	6.305	0.424311	0.11928	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.07908	3.15;3.15;3.16	4.13	1.22	0.21188	.	0.562653	0.17201	N	0.183131	T	0.01156	0.0038	L	0.27053	0.805	0.80722	D	1	B;B	0.33379	0.41;0.241	B;B	0.30943	0.122;0.09	T	0.39272	-0.9622	10	0.06365	T	0.9	-8.6342	3.594	0.08000	0.0:0.5232:0.2241:0.2526	.	573;573	Q96EK7;F2Z2E1	F120B_HUMAN;.	E	585;596;573	ENSP00000444125:D585E;ENSP00000440125:D596E;ENSP00000417970:D573E	ENSP00000436640:D573E	D	+	3	2	FAM120B	170470122	0.951000	0.32395	0.995000	0.50966	0.651000	0.38670	0.430000	0.21428	0.253000	0.21552	0.655000	0.94253	GAC		PASS	0.403	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		34	72	34	72	---	---	---	---
FAM20C	56975	broad.mit.edu	37	7	208896	208896	+	Splice_Site	SNP	A	A	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:208896A>C	ENST00000313766.5	+	3	1015		c.e3-1			NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C						dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TCCTTCCTGCAGCCATGAAGT	0.597																																						uc003sip.2																			1	Unknown(1)		lung(1)		0						c.e3-2		family with sequence similarity 20, member C							43.0	50.0	48.0					7																	208896		2065	4188	6253	SO:0001630	splice_region_variant	56975					extracellular region		g.chr7:208896A>C	BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.785-1A>C	7.37:g.208896A>C							p.A262_splice	NM_020223	NP_064608	Q8IXL6	DMP4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)	3	1016	+		Ovarian(82;0.0112)						A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Splice_Site	SNP	ENST00000313766.5	37	c.785_splice	CCDS47522.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.486879	0.63962	.	.	ENSG00000177706	ENST00000313766	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8474	0.63477	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM20C	303979	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.771000	0.85420	1.919000	0.55581	0.459000	0.35465	.		PASS	0.597	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322476.2	NM_020223	Intron	3	5	3	5	---	---	---	---
MICALL2	79778	broad.mit.edu	37	7	1477944	1477944	+	Missense_Mutation	SNP	G	G	A	rs551394343		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:1477944G>A	ENST00000297508.7	-	11	2343	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	MICALL2_ENST00000405088.4_Missense_Mutation_p.T511M|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	723	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.T723M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGAGGTCACCGTCTCGCCAGG	0.697																																						uc003skj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2167-2169)ACG>ATG		MICAL-like 2 isoform 1							26.0	21.0	23.0					7																	1477944		2188	4293	6481	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1477944G>A	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2168C>T	7.37:g.1477944G>A	ENSP00000297508:p.Thr723Met					MICALL2_uc003skh.3_Translation_Start_Site|MICALL2_uc003ski.3_Missense_Mutation_p.T210M	p.T723M	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	11	2315	-		Ovarian(82;0.0253)	723					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.2168C>T	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689418	0.29962	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.69175	2.53;-0.38	3.27	1.15	0.20763	.	.	.	.	.	T	0.59018	0.2163	N	0.19112	0.55	0.09310	N	1	P;D	0.71674	0.484;0.998	B;P	0.54140	0.008;0.743	T	0.49735	-0.8908	9	0.49607	T	0.09	.	8.0164	0.30383	0.0:0.0:0.4512:0.5488	.	723;511	Q8IY33;D3YTD2	MILK2_HUMAN;.	M	511;723	ENSP00000385928:T511M;ENSP00000297508:T723M	ENSP00000297508:T723M	T	-	2	0	MICALL2	1444470	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	0.389000	0.20751	0.694000	0.31654	0.455000	0.32223	ACG		PASS	0.697	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		3	21	3	21	---	---	---	---
HOXA4	3201	broad.mit.edu	37	7	27170284	27170284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:27170284G>T	ENST00000360046.5	-	1	134	c.69C>A	c.(67-69)taC>taA	p.Y23*	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Nonsense_Mutation_p.Y23*	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	23	Pro-rich (part of the transcriptional activation domain).				anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y23*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TGTGCTGCGCGTACTCCTCGA	0.612																																						uc003sym.3																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(67-69)TAC>TAA		homeobox A4							14.0	14.0	14.0					7																	27170284		2203	4297	6500	SO:0001587	stop_gained	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27170284G>T		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.69C>A	7.37:g.27170284G>T	ENSP00000353151:p.Tyr23*						p.Y23*	NM_002141	NP_002132	Q00056	HXA4_HUMAN			1	116	-			23			Pro-rich (part of the transcriptional activation domain).		A4D180|O43366	Nonsense_Mutation	SNP	ENST00000360046.5	37	c.69C>A	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165156	0.94768	.	.	ENSG00000197576	ENST00000360046;ENST00000428284	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6415	0.45596	0.0901:0.0:0.9099:0.0	.	.	.	.	X	23	.	ENSP00000353151:Y23X	Y	-	3	2	HOXA4	27136809	0.198000	0.23374	1.000000	0.80357	0.980000	0.70556	0.332000	0.19751	2.067000	0.61834	0.585000	0.79938	TAC		PASS	0.612	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			6	17	6	17	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378243	31378243	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:31378243G>C	ENST00000297142.3	-	2	962	c.640C>G	c.(640-642)Cct>Gct	p.P214A		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	214					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P214A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTGAGCTCAGGGCTGTGGTAG	0.527																																						uc003tch.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(640-642)CCT>GCT		neurogenic differentiation 6							125.0	96.0	106.0					7																	31378243		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378243G>C	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.640C>G	7.37:g.31378243G>C	ENSP00000297142:p.Pro214Ala						p.P214A	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	993	-			214					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.640C>G	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339097	0.41398	.	.	ENSG00000164600	ENST00000297142	T	0.66099	-0.19	5.02	5.02	0.67125	Neurogenic differentiation factor, domain of unknown function (1);	0.054746	0.85682	D	0.000000	T	0.63379	0.2506	L	0.49640	1.575	0.58432	D	0.999996	B	0.33198	0.401	B	0.38842	0.283	T	0.64550	-0.6381	10	0.48119	T	0.1	-9.9622	18.7079	0.91645	0.0:0.0:1.0:0.0	.	214	Q96NK8	NDF6_HUMAN	A	214	ENSP00000297142:P214A	ENSP00000297142:P214A	P	-	1	0	NEUROD6	31344768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.759000	0.68785	2.481000	0.83766	0.650000	0.86243	CCT		PASS	0.527	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		51	136	51	136	---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48028393	48028393	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:48028393C>G	ENST00000297325.4	-	9	1105	c.946G>C	c.(946-948)Gaa>Caa	p.E316Q	SUN3_ENST00000395572.2_Missense_Mutation_p.E316Q|SUN3_ENST00000453192.2_Missense_Mutation_p.E304Q|SUN3_ENST00000412142.1_Missense_Mutation_p.E228Q|SUN3_ENST00000473723.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	316	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.E316Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCTGGAGTTCAAATGTTTGA	0.358																																						uc003tof.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(946-948)GAA>CAA		Sad1 and UNC84 domain containing 1							133.0	124.0	127.0					7																	48028393		2202	4299	6501	SO:0001583	missense	256979					integral to membrane		g.chr7:48028393C>G	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.946G>C	7.37:g.48028393C>G	ENSP00000297325:p.Glu316Gln					SUN3_uc010kyq.2_Missense_Mutation_p.E228Q|SUN3_uc003tog.2_Missense_Mutation_p.E316Q|SUN3_uc011kcf.1_Missense_Mutation_p.E304Q	p.E316Q	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			10	1043	-			316			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.946G>C	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.109|4.109	0.018371|0.018371	0.07959|0.07959	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000297325;ENST00000412371;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771|ENST00000453071	T;T;T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99;0.99;0.99|.	4.89|4.89	2.9|2.9	0.33743|0.33743	Sad1/UNC-like, C-terminal (2);|.	1.027960|.	0.07667|.	N|.	0.934789|.	T|T	0.17152|0.17152	0.0412|0.0412	N|N	0.11756|0.11756	0.17|0.17	0.22171|0.22171	N|N	0.999317|0.999317	B;B;B|.	0.22146|.	0.026;0.013;0.065|.	B;B;B|.	0.20384|.	0.029;0.012;0.015|.	T|T	0.15954|0.15954	-1.0419|-1.0419	10|5	0.09843|.	T|.	0.71|.	.|.	2.8947|2.8947	0.05687|0.05687	0.1607:0.5105:0.2257:0.1031|0.1607:0.5105:0.2257:0.1031	.|.	304;228;316|.	E7EWC8;Q8TAQ9-2;Q8TAQ9|.	.;.;SUN3_HUMAN|.	Q|F	316;138;228;316;304;228|239	ENSP00000297325:E316Q;ENSP00000406887:E138Q;ENSP00000410204:E228Q;ENSP00000378939:E316Q;ENSP00000387525:E304Q;ENSP00000409077:E228Q|.	ENSP00000297325:E316Q|.	E|L	-|-	1|3	0|2	SUN3|SUN3	47994918|47994918	0.000000|0.000000	0.05858|0.05858	0.836000|0.836000	0.33094|0.33094	0.708000|0.708000	0.40852|0.40852	-0.633000|-0.633000	0.05483|0.05483	1.179000|1.179000	0.42884|0.42884	-0.218000|-0.218000	0.12543|0.12543	GAA|TTG		PASS	0.358	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		14	106	14	106	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77789561	77789561	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:77789561G>A	ENST00000354212.4	-	16	2879	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	MAGI2_ENST00000522391.1_Missense_Mutation_p.P876S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P862S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	876					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P876S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAGAGCCTGGACTTCTCCCG	0.532																																						uc003ugx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2626-2628)CCA>TCA		membrane associated guanylate kinase, WW and PDZ							124.0	115.0	118.0					7																	77789561		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77789561G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2626C>T	7.37:g.77789561G>A	ENSP00000346151:p.Pro876Ser					MAGI2_uc003ugy.2_Missense_Mutation_p.P862S|MAGI2_uc010ldx.1_Missense_Mutation_p.P469S	p.P876S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			16	2880	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	876					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2626C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868427	0.91587	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.12147	2.81;2.81;2.71	5.51	5.51	0.81932	.	0.000000	0.36374	U	0.002622	T	0.24198	0.0586	L	0.59436	1.845	0.80722	D	1	P;P;D	0.56521	0.642;0.78;0.976	B;P;P	0.47915	0.091;0.561;0.541	T	0.00579	-1.1661	10	0.52906	T	0.07	.	19.4065	0.94649	0.0:0.0:1.0:0.0	.	876;862;876	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	862;876;876;876	ENSP00000405766:P862S;ENSP00000346151:P876S;ENSP00000428389:P876S	ENSP00000346151:P876S	P	-	1	0	MAGI2	77627497	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.434000	0.97515	2.595000	0.87683	0.591000	0.81541	CCA		PASS	0.532	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		40	76	40	76	---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764222	138764222	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:138764222C>G	ENST00000242351.5	-	4	1781	c.1465G>C	c.(1465-1467)Gtt>Ctt	p.V489L	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.V489L|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.V489L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	489					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.V489L(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTACCGTTAACAAGTGCTACT	0.438																																						uc003vun.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1465-1467)GTT>CTT		zinc finger antiviral protein isoform 1							97.0	97.0	97.0					7																	138764222		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764222C>G	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1465G>C	7.37:g.138764222C>G	ENSP00000242351:p.Val489Leu					ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.V489L	p.V489L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			4	1853	-			489					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1465G>C	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	4.308	0.056514	0.08291	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.16897	3.32;3.35;2.31	4.64	-0.539	0.11865	.	1.398590	0.04828	N	0.438294	T	0.09335	0.0230	N	0.24115	0.695	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.005	T	0.30707	-0.9969	10	0.11485	T	0.65	.	1.9993	0.03463	0.3824:0.2816:0.2345:0.1016	.	489;489	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	L	489;489;489;249	ENSP00000242351:V489L;ENSP00000418385:V489L;ENSP00000419855:V489L	ENSP00000242351:V489L	V	-	1	0	ZC3HAV1	138414762	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-0.300000	0.08243	-0.233000	0.09797	0.655000	0.94253	GTT		PASS	0.438	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		24	95	24	95	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612065	142612065	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:142612065T>C	ENST00000265310.1	-	11	1786	c.1438A>G	c.(1438-1440)Atc>Gtc	p.I480V		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	480					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I480V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGGATCATGATGGTGAAGGGA	0.552																																						uc003wby.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1438-1440)ATC>GTC		transient receptor potential cation channel,							85.0	79.0	81.0					7																	142612065		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612065T>C	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1438A>G	7.37:g.142612065T>C	ENSP00000265310:p.Ile480Val						p.I480V	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			11	1702	-	Melanoma(164;0.059)		480			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1438A>G	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066000	0.55539	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.86366	-2.11;-2.11	5.54	5.54	0.83059	Ion transport (1);	0.054026	0.64402	D	0.000001	T	0.81559	0.4848	L	0.45352	1.415	0.80722	D	1	B	0.19935	0.04	B	0.27262	0.078	T	0.74206	-0.3740	10	0.02654	T	1	-5.696	14.8591	0.70366	0.0:0.0:0.0:1.0	.	480	Q9NQA5	TRPV5_HUMAN	V	480;425	ENSP00000265310:I480V;ENSP00000406361:I425V	ENSP00000265310:I480V	I	-	1	0	TRPV5	142322187	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.098000	0.63641	0.533000	0.62120	ATC		PASS	0.552	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		27	91	27	91	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150697679	150697679	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:150697679A>G	ENST00000484524.1	+	9	1225	c.1225A>G	c.(1225-1227)Agt>Ggt	p.S409G	NOS3_ENST00000467517.1_Missense_Mutation_p.S409G|NOS3_ENST00000461406.1_Missense_Mutation_p.S203G|NOS3_ENST00000297494.3_Missense_Mutation_p.S409G	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S409G(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGCTGCACAGTTACCAGGT	0.607																																						uc003wif.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(1225-1227)AGT>GGT		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						82.0	62.0	68.0					7																	150697679		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150697679A>G		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1225A>G	7.37:g.150697679A>G	ENSP00000420215:p.Ser409Gly					NOS3_uc011kuy.1_Missense_Mutation_p.S203G|NOS3_uc011kuz.1_Missense_Mutation_p.S409G|NOS3_uc011kva.1_Missense_Mutation_p.S409G|NOS3_uc011kvb.1_Missense_Mutation_p.S409G	p.S409G	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	1521	+	all_neural(206;0.219)		409			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1225A>G	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.730141	0.89390	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.34472	1.36;1.46;1.36;1.36	5.35	5.35	0.76521	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.64402	D	0.000002	T	0.71169	0.3308	H	0.95950	3.745	0.53688	D	0.999972	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.997;0.989;0.999	T	0.80881	-0.1184	10	0.87932	D	0	-17.1907	13.3156	0.60405	1.0:0.0:0.0:0.0	.	409;409;409;203;409	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	G	409;203;409;409	ENSP00000297494:S409G;ENSP00000417143:S203G;ENSP00000420215:S409G;ENSP00000420551:S409G	ENSP00000297494:S409G	S	+	1	0	NOS3	150328612	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.220000	0.95180	2.026000	0.59711	0.533000	0.62120	AGT		PASS	0.607	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		17	32	17	32	---	---	---	---
ASIC3	9311	broad.mit.edu	37	7	150746188	150746188	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:150746188C>A	ENST00000349064.5	+	1	414	c.216C>A	c.(214-216)caC>caA	p.H72Q	ASIC3_ENST00000357922.4_Missense_Mutation_p.H72Q|ASIC3_ENST00000297512.8_Missense_Mutation_p.H72Q	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	72					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.H72Q(2)									AGTTCCACCACCAGACTGCCC	0.657																																						uc003win.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(214-216)CAC>CAA		amiloride-sensitive cation channel 3 isoform a							108.0	85.0	93.0					7																	150746188		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746188C>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.216C>A	7.37:g.150746188C>A	ENSP00000344838:p.His72Gln					ACCN3_uc003wio.2_Missense_Mutation_p.H72Q|ACCN3_uc003wip.2_Missense_Mutation_p.H72Q|ACCN3_uc003wiq.2_RNA	p.H72Q	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	584	+			72			Extracellular (Potential).		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.216C>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.734924	0.69189	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.63913	-0.07;-0.07;-0.07	5.11	-1.29	0.09288	.	0.000000	0.35495	U	0.003178	T	0.76083	0.3938	M	0.87097	2.86	0.30900	N	0.729409	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.83275	0.974;0.915;0.996	T	0.73597	-0.3932	10	0.29301	T	0.29	-28.9814	10.5041	0.44823	0.0:0.5263:0.0:0.4737	.	72;72;72	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	Q	72	ENSP00000350600:H72Q;ENSP00000344838:H72Q;ENSP00000297512:H72Q	ENSP00000297512:H72Q	H	+	3	2	ACCN3	150377121	0.471000	0.25862	0.961000	0.40146	0.947000	0.59692	-0.098000	0.11024	-0.209000	0.10156	0.561000	0.74099	CAC		PASS	0.657	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		38	100	38	100	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151893021	151893021	+	Missense_Mutation	SNP	T	T	C	rs146504747		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr7:151893021T>C	ENST00000262189.6	-	28	4567	c.4349A>G	c.(4348-4350)gAt>gGt	p.D1450G	KMT2C_ENST00000355193.2_Missense_Mutation_p.D1450G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1450					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D1450G(2)									TGCTAGATCATCTGAAATTAT	0.333																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(4348-4350)GAT>GGT		myeloid/lymphoid or mixed-lineage leukemia 3							71.0	70.0	71.0					7																	151893021		2202	4300	6502	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151893021T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4349A>G	7.37:g.151893021T>C	ENSP00000262189:p.Asp1450Gly					MLL3_uc003wkz.2_Missense_Mutation_p.D511G	p.D1450G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	28	4568	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1450					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4349A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.467550	0.43839	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84442	-1.84;-1.85	5.86	5.86	0.93980	.	0.000000	0.46758	D	0.000261	D	0.90273	0.6958	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.83275	0.996;0.801	D	0.87346	0.2334	10	0.14656	T	0.56	.	16.2405	0.82405	0.0:0.0:0.0:1.0	.	1450;511	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	1450	ENSP00000262189:D1450G;ENSP00000347325:D1450G	ENSP00000262189:D1450G	D	-	2	0	MLL3	151523954	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.505000	0.66981	2.238000	0.73509	0.477000	0.44152	GAT		PASS	0.333	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			22	51	22	51	---	---	---	---
HMBOX1	79618	broad.mit.edu	37	8	28827926	28827926	+	Silent	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr8:28827926A>G	ENST00000397358.3	+	4	1094	c.390A>G	c.(388-390)ggA>ggG	p.G130G	HMBOX1_ENST00000519047.1_Silent_p.G130G|HMBOX1_ENST00000355231.5_Silent_p.G130G|HMBOX1_ENST00000523613.1_Silent_p.G130G|HMBOX1_ENST00000444075.1_Silent_p.G130G|HMBOX1_ENST00000524238.1_Silent_p.G130G|HMBOX1_ENST00000558662.1_Silent_p.G130G|HMBOX1_ENST00000287701.10_Silent_p.G130G|HMBOX1_ENST00000403668.2_Silent_p.G130G	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	130					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G130G(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CATCCAATGGAAAGATGTCAC	0.453																																						uc003xhd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(388-390)GGA>GGG		homeobox containing 1							77.0	75.0	76.0					8																	28827926		2203	4300	6503	SO:0001819	synonymous_variant	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28827926A>G	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.390A>G	8.37:g.28827926A>G						HMBOX1_uc010lvd.2_Silent_p.G130G|HMBOX1_uc003xhc.3_Silent_p.G130G|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Silent_p.G130G|HMBOX1_uc011lay.1_Silent_p.G130G|HMBOX1_uc003xhf.2_Silent_p.G118G|HMBOX1_uc003xhg.2_Silent_p.G118G	p.G130G	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	3	732	+		Ovarian(32;0.0192)	130					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Silent	SNP	ENST00000397358.3	37	c.390A>G	CCDS6071.1																																																																																				PASS	0.453	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		41	87	41	87	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39606952	39606952	+	Silent	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr8:39606952C>T	ENST00000265708.4	-	18	1996	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K	ADAM2_ENST00000347580.4_Silent_p.K612K|ADAM2_ENST00000379853.2_Silent_p.K475K|ADAM2_ENST00000521880.1_Silent_p.K568K	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	631	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.K631K(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)		AGTGACAGTGCTTTTTGTTAT	0.348																																						uc003xnj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1891-1893)AAG>AAA		ADAM metallopeptidase domain 2 proprotein							105.0	106.0	106.0					8																	39606952		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39606952C>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.1893G>A	8.37:g.39606952C>T						ADAM2_uc003xnk.2_Silent_p.K612K|ADAM2_uc011lck.1_Silent_p.K568K|ADAM2_uc003xnl.2_Silent_p.K475K	p.K631K	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	1968	-		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)	631			Extracellular (Potential).|EGF-like.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1893G>A	CCDS34884.1																																																																																				PASS	0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		81	171	81	171	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55537767	55537767	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr8:55537767C>A	ENST00000220676.1	+	4	1473	c.1325C>A	c.(1324-1326)gCa>gAa	p.A442E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	442					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.A442E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAAGACCAAGCAAAGCATCGT	0.433																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(1324-1326)GCA>GAA		retinitis pigmentosa RP1 protein							90.0	92.0	91.0					8																	55537767		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537767C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1325C>A	8.37:g.55537767C>A	ENSP00000220676:p.Ala442Glu					RP1_uc011ldy.1_Intron	p.A442E	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1473	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	442						Missense_Mutation	SNP	ENST00000220676.1	37	c.1325C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	1.620	-0.521762	0.04171	.	.	ENSG00000104237	ENST00000220676	T	0.27557	1.66	5.25	-9.68	0.00528	.	1.051600	0.07483	N	0.904323	T	0.13884	0.0336	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.39921	-0.9590	10	0.02654	T	1	.	2.8716	0.05618	0.2523:0.1567:0.0755:0.5156	.	442	P56715	RP1_HUMAN	E	442	ENSP00000220676:A442E	ENSP00000220676:A442E	A	+	2	0	RP1	55700320	0.000000	0.05858	0.003000	0.11579	0.295000	0.27426	-0.609000	0.05635	-1.323000	0.02275	-0.156000	0.13503	GCA		PASS	0.433	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		34	77	34	77	---	---	---	---
ADHFE1	137872	broad.mit.edu	37	8	67357485	67357485	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr8:67357485G>T	ENST00000396623.3	+	6	417	c.386G>T	c.(385-387)gGa>gTa	p.G129V	ADHFE1_ENST00000379385.4_Missense_Mutation_p.G129V|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.G81V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	129					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.G129V(1)|p.G81V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCCCAAAAGGGAGCTTTTGAT	0.408																																						uc003xwb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(385-387)GGA>GTA		alcohol dehydrogenase, iron containing, 1							133.0	117.0	122.0					8																	67357485		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67357485G>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.386G>T	8.37:g.67357485G>T	ENSP00000379865:p.Gly129Val					ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.G81V|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.G59V|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron	p.G129V	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		6	420	+		Lung NSC(129;0.197)	129					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.386G>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612613	0.28712	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.64	4.76	0.60689	Alcohol dehydrogenase, iron-type (1);	0.147957	0.64402	D	0.000013	T	0.49474	0.1559	M	0.66939	2.045	0.80722	D	1	B	0.23316	0.083	B	0.41946	0.371	T	0.38993	-0.9635	10	0.17832	T	0.49	-14.6841	12.2564	0.54627	0.1342:0.0:0.8658:0.0	.	129	Q8IWW8	HOT_HUMAN	V	64;129;129;81	ENSP00000428055:G64V;ENSP00000368695:G129V;ENSP00000379865:G129V;ENSP00000407115:G81V	ENSP00000368695:G129V	G	+	2	0	ADHFE1	67520039	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.276000	0.58933	2.658000	0.90341	0.655000	0.94253	GGA		PASS	0.408	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		55	120	55	120	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113657367	113657367	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr8:113657367G>T	ENST00000297405.5	-	20	3525	c.3281C>A	c.(3280-3282)aCa>aAa	p.T1094K	CSMD3_ENST00000455883.2_Missense_Mutation_p.T990K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1054K|MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1094K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1094	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1054K(2)|p.T1094K(2)		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						AACAGTCCATGTACAATTCAG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			4	Substitution - Missense(4)		lung(4)	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.(3280-3282)ACA>AAA		CUB and Sushi multiple domains 3 isoform 1							95.0	94.0	95.0					8																	113657367		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113657367G>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.3281C>A	8.37:g.113657367G>T	ENSP00000297405:p.Thr1094Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T366K|CSMD3_uc003ynt.2_Missense_Mutation_p.T1054K|CSMD3_uc011lhx.1_Missense_Mutation_p.T990K	p.T1094K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			20	3440	-			1094			Extracellular (Potential).|CUB 6.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3281C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743214	0.89663	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.78	5.78	0.91487	CUB (5);	0.067180	0.56097	D	0.000021	T	0.53562	0.1804	M	0.82517	2.595	0.47584	D	0.999464	P;P;B	0.50156	0.917;0.932;0.278	P;P;B	0.54431	0.637;0.752;0.22	T	0.45644	-0.9247	10	0.22706	T	0.39	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	990;1094;1054	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1054;1094;434;990;1094	ENSP00000345799:T1054K;ENSP00000297405:T1094K;ENSP00000341558:T434K;ENSP00000412263:T990K;ENSP00000343124:T1094K	ENSP00000297405:T1094K	T	-	2	0	CSMD3	113726543	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	9.778000	0.99011	2.894000	0.99253	0.591000	0.81541	ACA		PASS	0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	73	19	73	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143559650	143559650	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr8:143559650C>A	ENST00000517894.1	+	7	2384	c.1490C>A	c.(1489-1491)cCt>cAt	p.P497H	BAI1_ENST00000323289.5_Missense_Mutation_p.P497H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	497	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P497H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGCAACGGGCCTTCCTACGGG	0.692																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(1489-1491)CCT>CAT		brain-specific angiogenesis inhibitor 1							20.0	25.0	23.0					8																	143559650		2047	4195	6242	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143559650C>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1490C>A	8.37:g.143559650C>A	ENSP00000430945:p.Pro497His						p.P497H	NM_001702	NP_001693	O14514	BAI1_HUMAN			6	1673	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		497			Extracellular (Potential).|TSP type-1 4.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1490C>A		.	.	.	.	.	.	.	.	.	.	C	28.5	4.926144	0.92319	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.55413	0.52;0.52	4.8	4.8	0.61643	.	0.000000	0.64402	U	0.000001	T	0.80803	0.4693	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.87393	0.2364	10	0.87932	D	0	.	16.8374	0.85960	0.0:1.0:0.0:0.0	.	497	E9PBK0	.	H	497	ENSP00000430945:P497H;ENSP00000313046:P497H	ENSP00000313046:P497H	P	+	2	0	BAI1	143556652	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	5.880000	0.69698	2.184000	0.69523	0.455000	0.32223	CCT		PASS	0.692	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	26	5	26	---	---	---	---
DMRT1	1761	broad.mit.edu	37	9	916890	916890	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr9:916890C>T	ENST00000382276.3	+	4	1099	c.950C>T	c.(949-951)cCg>cTg	p.P317L	DMRT1_ENST00000569227.1_Missense_Mutation_p.P159L	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	317					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P317L(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CCCTCTTACCCGGAAGCCAGG	0.547																																						uc003zgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(949-951)CCG>CTG		doublesex and mab-3 related transcription factor							92.0	79.0	83.0					9																	916890		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:916890C>T	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.950C>T	9.37:g.916890C>T	ENSP00000371711:p.Pro317Leu						p.P317L	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	4	1099	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	317					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.950C>T	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536007	0.45176	.	.	ENSG00000137090	ENST00000382276	T	0.20738	2.05	5.44	5.44	0.79542	.	1.328200	0.04987	N	0.466656	T	0.25419	0.0618	L	0.38175	1.15	0.09310	N	0.999995	B	0.24426	0.103	B	0.17098	0.017	T	0.37174	-0.9717	10	0.49607	T	0.09	.	17.8192	0.88645	0.0:1.0:0.0:0.0	.	317	Q9Y5R6	DMRT1_HUMAN	L	317	ENSP00000371711:P317L	ENSP00000371711:P317L	P	+	2	0	DMRT1	906890	0.023000	0.18921	0.107000	0.21349	0.058000	0.15608	2.468000	0.45102	2.715000	0.92844	0.655000	0.94253	CCG		PASS	0.547	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		38	39	38	39	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90500146	90500146	+	Silent	SNP	G	G	A	rs370494405		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr9:90500146G>A	ENST00000325643.5	+	4	810	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	248	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P248P(1)									CACCACAGCCGCATGGTCCCC	0.627																																						uc004app.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(742-744)CCG>CCA		chromosome 9 open reading frame 79							84.0	91.0	88.0					9																	90500146		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90500146G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.744G>A	9.37:g.90500146G>A						C9orf79_uc004apo.1_Silent_p.P60P	p.P248P	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	779	+			248			Pro-rich.		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.744G>A	CCDS6676.1																																																																																				PASS	0.627	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		32	183	32	183	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104316311	104316311	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr9:104316311A>T	ENST00000389120.3	+	14	2033	c.1943A>T	c.(1942-1944)gAt>gTt	p.D648V		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	648					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D648V(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CTATTGCTGGATATGTACCGT	0.448																																						uc004bbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(1942-1944)GAT>GTT		ring finger protein 20							155.0	132.0	140.0					9																	104316311		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104316311A>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1943A>T	9.37:g.104316311A>T	ENSP00000373772:p.Asp648Val						p.D648V	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	14	2033	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	648			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1943A>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683347	0.88542	.	.	ENSG00000155827	ENST00000389120	T	0.39406	1.08	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67764	-0.5586	10	0.56958	D	0.05	-29.3481	16.2546	0.82505	1.0:0.0:0.0:0.0	.	648	Q5VTR2	BRE1A_HUMAN	V	648	ENSP00000373772:D648V	ENSP00000373772:D648V	D	+	2	0	RNF20	103356132	1.000000	0.71417	0.976000	0.42696	0.918000	0.54935	8.932000	0.92897	2.320000	0.78422	0.528000	0.53228	GAT		PASS	0.448	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		66	76	66	76	---	---	---	---
C10orf105	414152	broad.mit.edu	37	10	73491830	73491830	+	Intron	SNP	G	G	A	rs201884261		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr10:73491830G>A	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Missense_Mutation_p.V1273M	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.V1273M(1)									TATCATCACCGTGAATTACCT	0.567																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(3802-3804)GTG>ATG		cadherin-like 23 isoform 1 precursor							82.0	89.0	86.0					10																	73491830		2141	4237	6378	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73491830G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5654C>T	10.37:g.73491830G>A						CDH23_uc001jrz.2_Missense_Mutation_p.V884M|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.V76M	p.V1268M	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			31	4179	+			1268			Cadherin 12.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000398786.2	37	c.3802G>A	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727828	0.30593	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.81	3.9	0.45041	Cadherin (4);Cadherin-like (1);	0.239058	0.35436	N	0.003202	T	0.37404	0.1002	L	0.36672	1.1	0.80722	D	1	B;B;B	0.34161	0.068;0.41;0.439	B;B;B	0.32677	0.08;0.15;0.104	T	0.16897	-1.0387	9	0.33141	T	0.24	.	7.4917	0.27466	0.2218:0.0:0.7782:0.0	.	89;1268;1268	E7ERT0;Q6P152;Q9H251	.;.;CAD23_HUMAN	M	1273;1268;1271;89	.	ENSP00000224721:V1273M	V	+	1	0	CDH23	73161836	0.999000	0.42202	0.939000	0.37840	0.385000	0.30292	3.057000	0.49931	2.654000	0.90174	0.561000	0.74099	GTG		PASS	0.567	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		4	59	4	59	---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123279562	123279562	+	Missense_Mutation	SNP	C	C	G	rs121918499		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr10:123279562C>G	ENST00000358487.5	-	7	1142	c.870G>C	c.(868-870)tgG>tgC	p.W290C	FGFR2_ENST00000356226.4_Missense_Mutation_p.W175C|FGFR2_ENST00000360144.3_Missense_Mutation_p.W201C|FGFR2_ENST00000351936.6_Missense_Mutation_p.W290C|FGFR2_ENST00000357555.5_Missense_Mutation_p.W201C|FGFR2_ENST00000457416.2_Missense_Mutation_p.W290C|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369056.1_Missense_Mutation_p.W290C|FGFR2_ENST00000369059.1_Missense_Mutation_p.W175C|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.W290C|FGFR2_ENST00000346997.2_Missense_Mutation_p.W290C|FGFR2_ENST00000478859.1_Missense_Mutation_p.W62C	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	290	Ig-like C2-type 3.		W -> C (in PS; severe; also in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9150725}.|W -> G (in CS). {ECO:0000269|PubMed:8528214}.|W -> R (in CS).		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.W290C(5)|p.W201C(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CGTGCTTGATCCACTGGATGT	0.552		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		6	Substitution - Missense(6)	p.W290C(2)	lung(6)	endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96	GRCh37	CM970527|CM970528	FGFR2	M	rs121918499	c.(868-870)TGG>TGC		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						130.0	119.0	122.0					10																	123279562		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123279562C>G	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.870G>C	10.37:g.123279562C>G	ENSP00000351276:p.Trp290Cys					FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Missense_Mutation_p.W175C|FGFR2_uc010qti.1_Missense_Mutation_p.W201C|FGFR2_uc010qtj.1_Missense_Mutation_p.W290C|FGFR2_uc010qtl.1_Missense_Mutation_p.W290C|FGFR2_uc010qtm.1_Missense_Mutation_p.W175C|FGFR2_uc001lfl.3_Missense_Mutation_p.W290C|FGFR2_uc001lfm.2_Missense_Mutation_p.W201C|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.W309C|FGFR2_uc010qto.1_Missense_Mutation_p.W194C|FGFR2_uc001lfo.1_Missense_Mutation_p.W309C|FGFR2_uc010qtp.1_Missense_Mutation_p.W309C|FGFR2_uc001lfg.3_5'Flank	p.W290C	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	7	1517	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	290		W -> R (in CS).|W -> C (in PS; severe; also in a lung squamous cell carcinoma sample; somatic mutation).|W -> G (in CS).	Ig-like C2-type 3.|Extracellular (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.870G>C	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624396	0.87560	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D	0.99861	-3.97;-3.97;-3.97;-7.26;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	H	0.99286	4.5	0.80722	A	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.98;0.979;1.0;0.94;1.0;0.996;1.0	D	0.96049	0.9030	9	0.87932	D	0	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	309;175;290;309;290;201;175;309;201;290	D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;.;.	C	201;290;290;175;290;175;290;290;290;201;290;290;201	ENSP00000350166:W201C;ENSP00000351276:W290C;ENSP00000348559:W175C;ENSP00000358056:W290C;ENSP00000358055:W175C;ENSP00000263451:W290C;ENSP00000410294:W290C;ENSP00000309878:W290C;ENSP00000353262:W201C;ENSP00000358052:W290C;ENSP00000358054:W290C;ENSP00000337665:W201C	ENSP00000337665:W201C	W	-	3	0	FGFR2	123269552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.672000	0.90937	0.467000	0.42956	TGG		PASS	0.552	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		30	48	30	48	---	---	---	---
MTG1	92170	broad.mit.edu	37	10	135204850	135204850	+	5'Flank	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr10:135204850G>A	ENST00000317502.6	+	0	0				PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.S423S|PAOX_ENST00000480071.2_3'UTR|RP11-108K14.8_ENST00000468317.2_Silent_p.S15S|PAOX_ENST00000278060.5_Missense_Mutation_p.R476H|MTG1_ENST00000477902.2_5'Flank	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R476H(2)|p.S423S(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GCCACACATCGCACGTTTTAC	0.622																																						uc001lmv.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(2)|endometrium(2)		0						c.(1426-1428)CGC>CAC		polyamine oxidase isoform 1							76.0	81.0	80.0					10																	135204850		2203	4300	6503	SO:0001631	upstream_gene_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135204850G>A		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564		10.37:g.135204850G>A	Exception_encountered					PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.S423S|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank	p.R476H	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	7	1507	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	614					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.1427G>A	CCDS31320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.13|19.13	3.767836|3.767836	0.69878|0.69878	.|.	.|.	ENSG00000148832|ENSG00000148832	ENST00000368544|ENST00000368542;ENST00000368538;ENST00000278060	.|D	.|0.93247	.|-3.19	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.169040	.|0.49305	.|D	.|0.000150	D|D	0.90655|0.90655	0.7069|0.7069	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.48089	.|0.905	.|B	.|0.38020	.|0.263	D|D	0.92135|0.92135	0.5715|0.5715	5|9	0.87932|0.72032	D|D	0|0.01	-31.2048|-31.2048	15.9313|15.9313	0.79663|0.79663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|476	.|Q6QHF9-2	.|.	T|H	35|428;197;476	.|ENSP00000278060:R476H	ENSP00000357532:A35T|ENSP00000278060:R476H	A|R	+|+	1|2	0|0	PAOX|PAOX	135054840|135054840	0.191000|0.191000	0.23288|0.23288	0.998000|0.998000	0.56505|0.56505	0.969000|0.969000	0.65631|0.65631	2.488000|2.488000	0.45276|0.45276	2.628000|2.628000	0.89032|0.89032	0.563000|0.563000	0.77884|0.77884	GCA|CGC		PASS	0.622	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		68	85	68	85	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1026120	1026120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr11:1026120C>T	ENST00000421673.2	-	21	2618	c.2568G>A	c.(2566-2568)tgG>tgA	p.W856*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	856					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.W856*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGACAGGCCCACCTCCCCC	0.662																																						uc001lsw.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(2566-2568)TGG>TGA		mucin 6, gastric							29.0	33.0	32.0					11																	1026120		2130	4226	6356	SO:0001587	stop_gained	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1026120C>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2568G>A	11.37:g.1026120C>T	ENSP00000406861:p.Trp856*						p.W856*	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	21	2619	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	856					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	ENST00000421673.2	37	c.2568G>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	38	7.012703	0.98002	.	.	ENSG00000184956	ENST00000421673	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6846	0.77400	0.0:1.0:0.0:0.0	.	.	.	.	X	856	.	ENSP00000406861:W856X	W	-	3	0	MUC6	1016120	0.989000	0.36119	0.109000	0.21407	0.017000	0.09413	2.920000	0.48844	1.751000	0.51876	0.491000	0.48974	TGG		PASS	0.662	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		3	10	3	10	---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46419148	46419148	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr11:46419148G>T	ENST00000458649.2	-	18	4167	c.3749C>A	c.(3748-3750)tCt>tAt	p.S1250Y	AMBRA1_ENST00000534300.1_Missense_Mutation_p.S1190Y|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S1131Y|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S1190Y|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S1160Y|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S1221Y|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S1221Y			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1250					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)		p.S1250Y(1)|p.S1160Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGGGAGGAAGAGGGCAGGGT	0.647																																						uc010rgu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(3748-3750)TCT>TAT		activating molecule in beclin-1-regulated							62.0	63.0	63.0					11																	46419148		2202	4299	6501	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46419148G>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3749C>A	11.37:g.46419148G>T	ENSP00000415327:p.Ser1250Tyr					AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.S1221Y|AMBRA1_uc001ncu.1_Missense_Mutation_p.S1160Y|AMBRA1_uc001ncv.2_Missense_Mutation_p.S1253Y|AMBRA1_uc001ncw.2_Missense_Mutation_p.S1131Y|AMBRA1_uc001ncx.2_Missense_Mutation_p.S1190Y	p.S1250Y	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	18	4109	-			1250					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.3749C>A		.	.	.	.	.	.	.	.	.	.	G	4.766	0.142359	0.09083	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.71341	-0.41;-0.56;-0.15;-0.27;-0.15;-0.27;-0.27	4.49	2.63	0.31362	.	1.207800	0.05802	N	0.612491	T	0.56688	0.2002	N	0.14661	0.345	0.29843	N	0.829054	B;B;B;B;B;B	0.22983	0.019;0.032;0.032;0.032;0.078;0.032	B;B;B;B;B;B	0.20384	0.006;0.013;0.013;0.013;0.029;0.013	T	0.53954	-0.8365	10	0.87932	D	0	.	9.794	0.40724	0.1633:0.0:0.8367:0.0	.	1250;1221;1190;1131;1253;1160	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	Y	1160;1131;1190;1221;1190;1250;208;1221	ENSP00000318313:S1160Y;ENSP00000433372:S1131Y;ENSP00000431926:S1190Y;ENSP00000410899:S1221Y;ENSP00000298834:S1190Y;ENSP00000415327:S1250Y;ENSP00000433945:S1221Y	ENSP00000298834:S1190Y	S	-	2	0	AMBRA1	46375724	0.898000	0.30612	0.312000	0.25196	0.019000	0.09904	1.642000	0.37207	0.840000	0.34995	0.561000	0.74099	TCT		PASS	0.647	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		21	54	21	54	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	56000488	56000488	+	Silent	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr11:56000488G>A	ENST00000313264.4	-	1	249	c.174C>T	c.(172-174)gaC>gaT	p.D58D		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D58D(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTTCAAGATTGTCTGTGAAGC	0.358																																						uc010rjc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(172-174)GAC>GAT		olfactory receptor, family 5, subfamily T,							69.0	61.0	64.0					11																	56000488		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000488G>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.174C>T	11.37:g.56000488G>A							p.D58D	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	174	-	Esophageal squamous(21;0.00448)		58			Extracellular (Potential).		B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.174C>T	CCDS31523.1																																																																																				PASS	0.358	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		12	93	12	93	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57087823	57087823	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr11:57087823G>A	ENST00000532437.1	-	2	769	c.458C>T	c.(457-459)tCa>tTa	p.S153L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S153L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	153	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.S153L(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)				GAAGCGCTCTGAGGCTGGGCG	0.682																																						uc001njr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(457-459)TCA>TTA		tankyrase 1-binding protein 1							49.0	57.0	54.0					11																	57087823		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.chr11:57087823G>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.458C>T	11.37:g.57087823G>A	ENSP00000437271:p.Ser153Leu					TNKS1BP1_uc001njs.2_Missense_Mutation_p.S153L|TNKS1BP1_uc009ymd.1_5'UTR	p.S153L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			2	770	-		all_epithelial(135;0.21)	153			Pro-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.458C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083637	0.55861	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33865	1.39;1.39	4.37	4.37	0.52481	.	0.299368	0.18353	N	0.143831	T	0.39145	0.1067	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.12372	-1.0550	10	0.29301	T	0.29	-3.3601	9.871	0.41175	0.0978:0.0:0.9022:0.0	.	153	Q9C0C2	TB182_HUMAN	L	153	ENSP00000350990:S153L;ENSP00000437271:S153L	ENSP00000350990:S153L	S	-	2	0	TNKS1BP1	56844399	0.867000	0.29959	0.247000	0.24249	0.971000	0.66376	4.230000	0.58632	2.225000	0.72522	0.462000	0.41574	TCA		PASS	0.682	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		52	119	52	119	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62287531	62287531	+	Silent	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr11:62287531G>C	ENST00000378024.4	-	5	14632	c.14358C>G	c.(14356-14358)ccC>ccG	p.P4786P	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4786					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P4786P(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCTGAATTTGGGCATTTTCA	0.537																																						uc001ntl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(14356-14358)CCC>CCG		AHNAK nucleoprotein isoform 1							228.0	222.0	224.0					11																	62287531		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287531G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14358C>G	11.37:g.62287531G>C						AHNAK_uc001ntk.1_Intron	p.P4786P	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	14658	-		Melanoma(852;0.155)	4786					A1A586	Silent	SNP	ENST00000378024.4	37	c.14358C>G	CCDS31584.1																																																																																				PASS	0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		111	336	111	336	---	---	---	---
SNX32	254122	broad.mit.edu	37	11	65620388	65620388	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr11:65620388A>C	ENST00000308342.6	+	12	1542	c.1117A>C	c.(1117-1119)Aat>Cat	p.N373H		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	373					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.N373H(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TTTTCGAAAGAATCTCATTGA	0.622																																						uc001ofr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)AAT>CAT		sorting nexin 6B							88.0	94.0	92.0					11																	65620388		2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65620388A>C	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1117A>C	11.37:g.65620388A>C	ENSP00000310620:p.Asn373His						p.N373H	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	12	1244	+			373					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.1117A>C	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091021	0.76756	.	.	ENSG00000172803	ENST00000308342	T	0.19394	2.15	3.88	3.88	0.44766	.	0.143817	0.31721	N	0.007176	T	0.45895	0.1365	M	0.80616	2.505	0.42504	D	0.992945	D	0.76494	0.999	D	0.87578	0.998	T	0.50725	-0.8794	10	0.72032	D	0.01	-19.8397	10.7324	0.46104	1.0:0.0:0.0:0.0	.	373	Q86XE0	SNX32_HUMAN	H	373	ENSP00000310620:N373H	ENSP00000310620:N373H	N	+	1	0	SNX32	65376964	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.754000	0.85163	1.630000	0.50440	0.459000	0.35465	AAT		PASS	0.622	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		63	129	63	129	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107288983	107288983	+	Silent	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr11:107288983C>A	ENST00000282251.5	-	9	1491	c.1464G>T	c.(1462-1464)ctG>ctT	p.L488L	CWF19L2_ENST00000433523.1_Silent_p.L488L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	488							catalytic activity (GO:0003824)	p.L488L(1)|p.L334L(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CATCAACACTCAGGATGTGAA	0.388																																						uc010rvp.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1462-1464)CTG>CTT		CWF19-like 2, cell cycle control							174.0	156.0	162.0					11																	107288983		2201	4298	6499	SO:0001819	synonymous_variant	143884						catalytic activity	g.chr11:107288983C>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1464G>T	11.37:g.107288983C>A						CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.L488L	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	9	1494	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	488					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	37	c.1464G>T	CCDS8336.2																																																																																				PASS	0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		45	111	45	111	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118772546	118772546	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr11:118772546C>T	ENST00000334801.3	-	6	2870	c.1906G>A	c.(1906-1908)Ggc>Agc	p.G636S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	636					canonical Wnt signaling pathway (GO:0060070)|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 from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.G636S(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAGCCCATGCCTGGTCTCACG	0.607																																						uc001pug.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1906-1908)GGC>AGC		B-cell CLL/lymphoma 9-like							45.0	45.0	45.0					11																	118772546		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772546C>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1906G>A	11.37:g.118772546C>T	ENSP00000335320:p.Gly636Ser					BCL9L_uc009zal.2_Missense_Mutation_p.G631S	p.G636S	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2871	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	636					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1906G>A	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688978	0.68271	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	D	0.87809	-2.3	4.59	4.59	0.56863	.	0.000000	0.44688	D	0.000426	D	0.91023	0.7176	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.66084	0.941;0.874	D	0.92068	0.5662	10	0.72032	D	0.01	-11.4569	17.1653	0.86814	0.0:1.0:0.0:0.0	.	631;636	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	636;599;636;636	ENSP00000335320:G636S	ENSP00000335320:G636S	G	-	1	0	BCL9L	118277756	0.999000	0.42202	0.958000	0.39756	0.550000	0.35303	4.236000	0.58675	2.377000	0.81083	0.313000	0.20887	GGC		PASS	0.607	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		25	46	25	46	---	---	---	---
CCND2	894	broad.mit.edu	37	12	4385368	4385368	+	Silent	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:4385368C>A	ENST00000261254.3	+	2	662	c.393C>A	c.(391-393)atC>atA	p.I131I	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	131	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.I131M(1)|p.I131I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			ACAACTCCATCAAGCCTCAGG	0.567			T	IGL@	"""NHL,CLL"""																																	uc001qmo.2				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		NHL,CLL		2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I131M(1)	lung(1)|breast(1)	haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3						c.(391-393)ATC>ATA		cyclin D2							58.0	47.0	51.0					12																	4385368		2203	4300	6503	SO:0001819	synonymous_variant	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4385368C>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.393C>A	12.37:g.4385368C>A							p.I131I	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		2	698	+			131			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	37	c.393C>A	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400621	0.25291	.	.	ENSG00000118971	ENST00000536537	.	.	.	5.05	3.12	0.35913	.	.	.	.	.	T	0.68851	0.3046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66126	-0.6001	4	.	.	.	.	14.0364	0.64646	0.0:0.7006:0.2994:0.0	.	.	.	.	K	47	.	.	Q	+	1	0	CCND2	4255629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.670000	0.46833	0.479000	0.27511	0.555000	0.69702	CAA		PASS	0.567	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		3	38	3	38	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6658975	6658975	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:6658975G>A	ENST00000396840.2	-	4	1059	c.1018C>T	c.(1018-1020)Ctc>Ttc	p.L340F	IFFO1_ENST00000336604.4_Missense_Mutation_p.L340F|IFFO1_ENST00000465801.1_Missense_Mutation_p.L33F|IFFO1_ENST00000436152.2_Missense_Mutation_p.L33F|IFFO1_ENST00000356896.4_Missense_Mutation_p.L340F			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	340						intermediate filament (GO:0005882)		p.L340F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						ACATCGCAGAGCTTGGCGGTG	0.607																																						uc001qpd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)CTC>TTC		intermediate filament family orphan isoform 2							139.0	89.0	106.0					12																	6658975		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6658975G>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1018C>T	12.37:g.6658975G>A	ENSP00000380052:p.Leu340Phe					IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Missense_Mutation_p.L17F|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.L340F|IFFO1_uc001qpf.1_Missense_Mutation_p.L340F|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Missense_Mutation_p.L340F|IFFO1_uc001qpg.2_5'Flank	p.L340F	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			4	1052	-			340					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.1018C>T		.	.	.	.	.	.	.	.	.	.	G	17.88	3.497262	0.64186	.	.	ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896	D;D;D;D;D	0.96073	-3.6;-3.9;-3.68;-3.6;-3.76	3.95	3.95	0.45737	.	0.097537	0.42682	D	0.000662	D	0.97129	0.9062	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.97940	1.0325	10	0.87932	D	0	-19.2701	16.1817	0.81909	0.0:0.0:1.0:0.0	.	340;340;340;340	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	F	33;33;340;340;340	ENSP00000390721:L33F;ENSP00000436261:L33F;ENSP00000337593:L340F;ENSP00000380052:L340F;ENSP00000349364:L340F	ENSP00000337593:L340F	L	-	1	0	IFFO1	6529236	1.000000	0.71417	0.610000	0.28997	0.567000	0.35839	5.203000	0.65174	2.049000	0.60858	0.491000	0.48974	CTC		PASS	0.607	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		20	35	20	35	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11507478	11507478	+	Silent	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:11507478C>T	ENST00000500254.2	-	2	112	c.75G>A	c.(73-75)caG>caA	p.Q25Q	PRB1_ENST00000545626.1_Silent_p.Q25Q|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	25				NLNEDVSQEESPSLIA -> SCVGFYSVFLFSLCPL (in Ref. 4; AAA36502). {ECO:0000305}.		extracellular region (GO:0005576)		p.Q25Q(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GAGATTCTTCCTGGCTGACAT	0.428																																						uc001qzw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(73-75)CAG>CAA		proline-rich protein BstNI subfamily 1 isoform 1							189.0	177.0	181.0					12																	11507478		2177	4277	6454	SO:0001819	synonymous_variant	5542					extracellular region		g.chr12:11507478C>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.75G>A	12.37:g.11507478C>T						PRB1_uc001qzu.1_Silent_p.Q25Q|PRB1_uc001qzv.1_Silent_p.Q25Q	p.Q25Q	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	112	-			25	NLNEDVSQEESPSLIA -> SCVGFYSVFLFSLCPL (in Ref. 4; AAA36502).				Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	c.75G>A	CCDS8642.1																																																																																				PASS	0.428	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		62	137	62	137	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716347	13716347	+	Silent	SNP	G	G	A	rs200571186		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:13716347G>A	ENST00000609686.1	-	13	4034	c.3825C>T	c.(3823-3825)aaC>aaT	p.N1275N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1275					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.N1275N(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGTGGAGGCGTTTGACGTCA	0.582																																						uc001rbt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3823-3825)AAC>AAT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						70.0	78.0	75.0					12																	13716347		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716347G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3825C>T	12.37:g.13716347G>A							p.N1275N	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	4004	-			1275			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3825C>T	CCDS8662.1																																																																																				PASS	0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			23	80	23	80	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40699752	40699752	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:40699752G>A	ENST00000298910.7	+	28	4001	c.3943G>A	c.(3943-3945)Gcc>Acc	p.A1315T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1315					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.A1315T(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGATGTAAAGCCAAAGACAT	0.294																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(3943-3945)GCC>ACC		leucine-rich repeat kinase 2							50.0	48.0	49.0					12																	40699752		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40699752G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3943G>A	12.37:g.40699752G>A	ENSP00000298910:p.Ala1315Thr					LRRK2_uc009zjw.2_Missense_Mutation_p.A153T|LRRK2_uc001rmi.2_Missense_Mutation_p.A148T	p.A1315T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			28	4064	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1315					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3943G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001392	0.35320	.	.	ENSG00000188906	ENST00000298910	T	0.69561	-0.41	5.76	4.86	0.63082	.	0.107143	0.64402	D	0.000004	T	0.41534	0.1163	N	0.04880	-0.145	0.49582	D	0.999802	B;B	0.15719	0.007;0.014	B;B	0.13407	0.007;0.009	T	0.39901	-0.9591	10	0.02654	T	1	.	15.0834	0.72133	0.0689:0.0:0.9311:0.0	.	1315;1315	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1315	ENSP00000298910:A1315T	ENSP00000298910:A1315T	A	+	1	0	LRRK2	38986019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.726000	0.61986	2.732000	0.93576	0.655000	0.94253	GCC		PASS	0.294	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		26	71	26	71	---	---	---	---
KRT81	3887	broad.mit.edu	37	12	52681782	52681782	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:52681782A>G	ENST00000327741.5	-	5	954	c.886T>C	c.(886-888)Tgg>Cgg	p.W296R	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	296	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.W296R(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCGGTACCAGGACTCGGCC	0.557																																						uc001sab.2																			1	Substitution - Missense(1)		lung(1)		0						c.(886-888)TGG>CGG		keratin, hair, basic, 1							83.0	74.0	77.0					12																	52681782		2203	4300	6503	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52681782A>G	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.886T>C	12.37:g.52681782A>G	ENSP00000369349:p.Trp296Arg					KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	p.W296R	NM_002281	NP_002272	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	936	-			296			Rod.|Coil 2.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.886T>C	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244844	0.79912	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.89415	-2.51	4.48	4.48	0.54585	Filament (1);	0.000000	0.38959	U	0.001512	D	0.96012	0.8701	H	0.96111	3.77	0.46458	D	0.999055	D	0.64830	0.994	D	0.73708	0.981	D	0.97175	0.9847	10	0.87932	D	0	.	13.8574	0.63537	1.0:0.0:0.0:0.0	.	296	Q14533	KRT81_HUMAN	R	296	ENSP00000369349:W296R	ENSP00000369349:W296R	W	-	1	0	KRT81	50968049	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.451000	0.80668	1.670000	0.50864	0.454000	0.30748	TGG		PASS	0.557	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		25	83	25	83	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53824031	53824031	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:53824031C>G	ENST00000257863.4	+	10	1470	c.1390C>G	c.(1390-1392)Ccc>Gcc	p.P464A	AMHR2_ENST00000550311.1_Silent_p.V462V|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	464	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.P464A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GAGGAGGCGTCCCTACATCCC	0.602																																						uc001scx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1390-1392)CCC>GCC		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						204.0	170.0	181.0					12																	53824031		2203	4300	6503	SO:0001583	missense	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53824031C>G	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1390C>G	12.37:g.53824031C>G	ENSP00000257863:p.Pro464Ala					AMHR2_uc009zmy.1_Silent_p.V462V	p.P464A	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			10	1468	+			464			Cytoplasmic (Potential).|Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1390C>G	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421348	0.83559	.	.	ENSG00000135409	ENST00000257863	D	0.93307	-3.2	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39020	N	0.001489	D	0.96580	0.8884	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96640	0.9473	9	0.72032	D	0.01	.	15.8836	0.79222	0.0:1.0:0.0:0.0	.	464	Q16671	AMHR2_HUMAN	A	464	ENSP00000257863:P464A	ENSP00000257863:P464A	P	+	1	0	AMHR2	52110298	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.057000	0.64294	2.822000	0.97130	0.557000	0.71058	CCC		PASS	0.602	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		88	204	88	204	---	---	---	---
RBMS2	5939	broad.mit.edu	37	12	56982752	56982752	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:56982752G>A	ENST00000262031.5	+	13	1275	c.1180G>A	c.(1180-1182)Gca>Aca	p.A394T	RNU6-343P_ENST00000364709.1_RNA|RBMS2_ENST00000542360.1_Missense_Mutation_p.A249T|RBMS2_ENST00000550726.1_Missense_Mutation_p.A269T|RBMS2_ENST00000552247.2_Missense_Mutation_p.A331T	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	394					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A394T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GGCAGTGGACGCACCCTCAGA	0.577																																						uc001sln.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1180-1182)GCA>ACA		RNA binding motif, single stranded interacting							150.0	126.0	134.0					12																	56982752		2203	4300	6503	SO:0001583	missense	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56982752G>A	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.1180G>A	12.37:g.56982752G>A	ENSP00000262031:p.Ala394Thr					RBMS2_uc010sqp.1_Missense_Mutation_p.A249T|RBMS2_uc010sqq.1_Missense_Mutation_p.A269T|RBMS2_uc009zou.2_Missense_Mutation_p.R149H	p.A394T	NM_002898	NP_002889	Q15434	RBMS2_HUMAN			13	1379	+			394						Missense_Mutation	SNP	ENST00000262031.5	37	c.1180G>A	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	0.886	-0.726997	0.03158	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726;ENST00000542360	T;T;T	0.18502	2.94;2.9;2.21	5.15	-6.56	0.01848	.	0.478331	0.21833	N	0.068456	T	0.04182	0.0116	N	0.11313	0.125	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.001	T	0.38950	-0.9637	10	0.02654	T	1	.	3.2995	0.06978	0.1252:0.2004:0.4628:0.2116	.	249;394	F5H5C8;Q15434	.;RBMS2_HUMAN	T	394;331;269;249	ENSP00000262031:A394T;ENSP00000447426:A331T;ENSP00000449678:A269T	ENSP00000262031:A394T	A	+	1	0	RBMS2	55269019	0.000000	0.05858	0.121000	0.21740	0.456000	0.32438	-0.368000	0.07543	-0.431000	0.07307	-0.459000	0.05422	GCA		PASS	0.577	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		10	179	10	179	---	---	---	---
MAP1LC3B2	643246	broad.mit.edu	37	12	117014012	117014012	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:117014012G>T	ENST00000556529.1	+	1	357	c.265G>T	c.(265-267)Gtc>Ttc	p.V89F	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.V89F			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	89					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)		p.V89F(1)		breast(1)|large_intestine(2)|lung(3)	6						ACACAGCATGGTCAGCGTCTC	0.483																																						uc009zwk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GTC>TTC		microtubule-associated protein 1 light chain 3							105.0	105.0	105.0					12																	117014012		2203	4297	6500	SO:0001583	missense	643246				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		g.chr12:117014012G>T		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.265G>T	12.37:g.117014012G>T	ENSP00000450524:p.Val89Phe						p.V89F	NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN			2	419	+			89						Missense_Mutation	SNP	ENST00000556529.1	37	c.265G>T	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.852410	0.51270	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.48522	0.81;0.81	2.39	2.39	0.29439	.	0.000000	0.64402	D	0.000001	T	0.65069	0.2656	M	0.78049	2.395	0.58432	D	0.999996	D	0.76494	0.999	D	0.72075	0.976	T	0.69540	-0.5118	10	0.87932	D	0	-11.5011	10.6017	0.45371	0.0:0.0:1.0:0.0	.	89	A6NCE7	MP3B2_HUMAN	F	89	ENSP00000305059:V89F;ENSP00000450524:V89F	ENSP00000305059:V89F	V	+	1	0	MAP1LC3B2	115498395	1.000000	0.71417	0.968000	0.41197	0.363000	0.29612	6.584000	0.74057	1.376000	0.46267	0.375000	0.23000	GTC		PASS	0.483	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		49	126	49	126	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129569169	129569169	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:129569169A>G	ENST00000422113.2	-	6	1848	c.1522T>C	c.(1522-1524)Tac>Cac	p.Y508H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.Y46H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	508					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Y508H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGTGCTGGTAGGTGAAGTTC	0.537																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1522-1524)TAC>CAC		transmembrane protein 132D precursor							128.0	95.0	106.0					12																	129569169		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129569169A>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1522T>C	12.37:g.129569169A>G	ENSP00000408581:p.Tyr508His					TMEM132D_uc001uia.2_Missense_Mutation_p.Y46H	p.Y508H	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1850	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	508			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1522T>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	a	18.18	3.566756	0.65651	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.55052	0.54;0.54	4.78	3.64	0.41730	.	0.191989	0.36555	N	0.002534	T	0.68522	0.3010	M	0.75447	2.3	0.58432	D	0.999996	B;D	0.89917	0.046;1.0	B;D	0.76575	0.027;0.988	T	0.67503	-0.5654	9	.	.	.	-28.4472	10.1601	0.42847	0.9207:0.0:0.0793:0.0	.	508;46	Q14C87;Q14C87-2	T132D_HUMAN;.	H	46;508	ENSP00000374092:Y46H;ENSP00000408581:Y508H	.	Y	-	1	0	TMEM132D	128135122	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.051000	0.71072	0.678000	0.31325	0.454000	0.30748	TAC		PASS	0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		14	70	14	70	---	---	---	---
PUS1	80324	broad.mit.edu	37	12	132428116	132428116	+	Silent	SNP	C	C	T	rs531516145		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr12:132428116C>T	ENST00000376649.3	+	6	1769	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	PUS1_ENST00000542167.2_Silent_p.D370D|PUS1_ENST00000535067.1_Silent_p.D130D|PUS1_ENST00000440818.2_Silent_p.D395D|PUS1_ENST00000443358.2_Silent_p.D395D	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	423					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)	p.D423D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GTGAAGGGGACGGAGACACTG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		17765	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(102;671 2009 17384 45666)	uc001ujf.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1267-1269)GAC>GAT		pseudouridine synthase 1 isoform 1							109.0	97.0	101.0					12																	132428116		2203	4300	6503	SO:0001819	synonymous_variant	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132428116C>T	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1269C>T	12.37:g.132428116C>T						PUS1_uc001ujg.2_Silent_p.D395D|PUS1_uc001ujh.2_Silent_p.D395D|PUS1_uc001uji.2_Silent_p.D370D	p.D423D	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	6	1748	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		423					A8K877|B3KQC1|Q8WYT2|Q9BU44	Silent	SNP	ENST00000376649.3	37	c.1269C>T	CCDS9275.2																																																																																				PASS	0.602	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		36	114	36	114	---	---	---	---
KIAA0226L	80183	broad.mit.edu	37	13	46930571	46930571	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr13:46930571C>A	ENST00000429979.1	-	10	1930	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.E285D|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.E442D|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.E442D|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.E442D|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.E307D|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.E285D|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.E375D|KIAA0226L_ENST00000378781.3_3'UTR	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	442								p.E442D(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACTTACTAGGCTCTACTGGAG	0.463																																						uc010acl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1324-1326)GAG>GAT		hypothetical protein LOC80183							55.0	50.0	52.0					13																	46930571		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46930571C>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1326G>T	13.37:g.46930571C>A	ENSP00000396935:p.Glu442Asp					C13orf18_uc001vbf.3_Missense_Mutation_p.E375D|C13orf18_uc001vbg.3_Missense_Mutation_p.E170D|C13orf18_uc010tfz.1_Missense_Mutation_p.E285D|C13orf18_uc010acm.2_Missense_Mutation_p.E307D|C13orf18_uc010acn.2_Missense_Mutation_p.E227D|C13orf18_uc001vbe.3_Missense_Mutation_p.E442D|C13orf18_uc001vbh.3_Missense_Mutation_p.E442D|C13orf18_uc001vbi.3_Missense_Mutation_p.E285D|C13orf18_uc010aco.1_Missense_Mutation_p.E442D	p.E442D	NM_025113	NP_079389	Q9H714	CM018_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)	10	1931	-		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	442					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.1326G>T	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823102	0.50739	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.47869	0.86;0.83;0.85;0.86;0.83;0.86	5.44	1.1	0.20463	.	0.355767	0.27143	N	0.020722	T	0.48021	0.1477	L	0.50993	1.605	0.80722	D	1	B;B;B;B;B;D	0.55605	0.007;0.007;0.047;0.003;0.004;0.972	B;B;B;B;B;P	0.56398	0.016;0.011;0.04;0.011;0.025;0.797	T	0.42050	-0.9474	10	0.13108	T	0.6	-1.0542	8.5331	0.33346	0.0:0.2017:0.0:0.7983	.	285;285;442;307;375;442	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	D	442;442;375;442;442;285;285;307	ENSP00000396935:E442D;ENSP00000368074:E442D;ENSP00000368061:E375D;ENSP00000374558:E442D;ENSP00000368064:E442D;ENSP00000437501:E307D	ENSP00000315633:E285D	E	-	3	2	KIAA0226L	45828572	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	0.715000	0.25822	0.161000	0.19458	0.650000	0.86243	GAG		PASS	0.463	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		10	12	10	12	---	---	---	---
SUCLA2	8803	broad.mit.edu	37	13	48563082	48563082	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr13:48563082T>A	ENST00000378654.3	-	3	362	c.306A>T	c.(304-306)ttA>ttT	p.L102F	SUCLA2_ENST00000534875.1_Missense_Mutation_p.L44F|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000543413.1_Missense_Mutation_p.L44F|SUCLA2_ENST00000497202.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	102	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.L102F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TACCACCAGCTAAAACCTGTG	0.368																																						uc001vbs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(304-306)TTA>TTT		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						116.0	116.0	116.0					13																	48563082		2203	4300	6503	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48563082T>A	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.306A>T	13.37:g.48563082T>A	ENSP00000367923:p.Leu102Phe					SUCLA2_uc010tgb.1_Missense_Mutation_p.L42F|SUCLA2_uc010tgc.1_5'UTR|SUCLA2_uc010tgd.1_Missense_Mutation_p.L42F|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.L102F	p.L102F	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	3	363	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	102			ATP-grasp.		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.306A>T	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	t	18.19	3.569469	0.65765	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000534875;ENST00000543413;ENST00000434484	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.16	2.61	0.31194	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.000000	0.64402	D	0.000001	T	0.77205	0.4096	M	0.86573	2.825	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.57911	0.829;0.829	T	0.74569	-0.3622	10	0.44086	T	0.13	-9.2485	7.724	0.28748	0.0:0.2404:0.0:0.7596	.	102;102	E5KS55;Q9P2R7	.;SUCB1_HUMAN	F	102;80;32;44;44;32	ENSP00000367923:L102F;ENSP00000438182:L44F;ENSP00000441056:L44F;ENSP00000392771:L32F	ENSP00000367909:L32F	L	-	3	2	SUCLA2	47461083	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.906000	0.48735	0.266000	0.21894	0.455000	0.32223	TTA		PASS	0.368	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			11	198	11	198	---	---	---	---
BORA	79866	broad.mit.edu	37	13	73321211	73321211	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr13:73321211G>A	ENST00000390667.5	+	10	1541	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	BORA_ENST00000377815.3_Missense_Mutation_p.E412K	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	482					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)	p.E482K(1)									ACCTCTTGCTGAAAGCAGTGT	0.403																																						uc001viv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1444-1446)GAA>AAA		aurora borealis							217.0	200.0	206.0					13																	73321211		1909	4134	6043	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73321211G>A	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1444G>A	13.37:g.73321211G>A	ENSP00000375082:p.Glu482Lys					C13orf34_uc010thq.1_Missense_Mutation_p.E257K|C13orf34_uc010aen.1_Missense_Mutation_p.E557K|C13orf34_uc010thr.1_Missense_Mutation_p.E412K|C13orf34_uc001viw.1_Missense_Mutation_p.E431K	p.E482K	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	10	1563	+		Breast(118;0.0735)	482					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.1444G>A	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974876	0.92919	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.51574	0.7;0.7	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70176	0.3194	M	0.70275	2.135	0.54753	D	0.999983	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.997;0.997	T	0.70699	-0.4800	10	0.59425	D	0.04	-19.4346	19.8351	0.96655	0.0:0.0:1.0:0.0	.	412;482;542;482	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	K	412;482	ENSP00000367046:E412K;ENSP00000375082:E482K	ENSP00000367046:E412K	E	+	1	0	BORA	72219212	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.049000	0.76613	2.687000	0.91594	0.655000	0.94253	GAA		PASS	0.403	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		151	156	151	156	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110822951	110822951	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr13:110822951G>T	ENST00000375820.4	-	42	3806	c.3685C>A	c.(3685-3687)Cat>Aat	p.H1229N		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1229	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.H1229N(1)|p.H872N(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCGTGGCATGGCCTGGGGAT	0.672																																						uc001vqw.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(3685-3687)CAT>AAT		alpha 1 type IV collagen preproprotein							20.0	23.0	22.0					13																	110822951		2203	4297	6500	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110822951G>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3685C>A	13.37:g.110822951G>T	ENSP00000364979:p.His1229Asn					COL4A1_uc010agl.2_Intron	p.H1229N	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		42	3807	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1229			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.3685C>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	4.657	0.122167	0.08931	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93307	-3.2	5.07	4.19	0.49359	.	0.875475	0.10010	N	0.727328	D	0.89708	0.6793	N	0.10916	0.065	0.09310	N	0.999999	P	0.47106	0.89	P	0.52710	0.707	T	0.79455	-0.1796	10	0.15952	T	0.53	.	11.9791	0.53109	0.0:0.0:0.5159:0.4841	.	1229	P02462	CO4A1_HUMAN	N	872;1229;878	ENSP00000364979:H1229N	ENSP00000364973:H872N	H	-	1	0	COL4A1	109620952	0.040000	0.19996	0.004000	0.12327	0.006000	0.05464	2.243000	0.43115	1.063000	0.40649	0.650000	0.86243	CAT		PASS	0.672	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			9	9	9	9	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111092145	111092145	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr13:111092145G>T	ENST00000360467.5	+	16	1228	c.922G>T	c.(922-924)Ggc>Tgc	p.G308C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	308	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G308C(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGTTACCCTGGCTTGAGTGG	0.478																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(922-924)GGC>TGC		alpha 2 type IV collagen preproprotein							155.0	154.0	154.0					13																	111092145		1930	4146	6076	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111092145G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.922G>T	13.37:g.111092145G>T	ENSP00000353654:p.Gly308Cys						p.G308C	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		16	1211	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	308			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.922G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	9.284	1.048908	0.19827	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99369	-5.78	4.26	4.26	0.50523	.	0.000000	0.53938	D	0.000051	D	0.99632	0.9865	H	0.98276	4.19	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	D	0.97506	1.0063	10	0.87932	D	0	.	12.3826	0.55315	0.0:0.0:1.0:0.0	.	308	P08572	CO4A2_HUMAN	C	308	ENSP00000353654:G308C	ENSP00000257309:G308C	G	+	1	0	COL4A2	109890146	0.992000	0.36948	0.721000	0.30653	0.027000	0.11550	3.658000	0.54482	2.366000	0.80165	0.561000	0.74099	GGC		PASS	0.478	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		70	61	70	61	---	---	---	---
F7	2155	broad.mit.edu	37	13	113773143	113773143	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr13:113773143C>T	ENST00000375581.3	+	9	1257	c.1222C>T	c.(1222-1224)Cat>Tat	p.H408Y	F7_ENST00000346342.3_Missense_Mutation_p.H386Y|F7_ENST00000541084.1_Missense_Mutation_p.H339Y	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	408	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		H -> Q (in FA7D; dbSNP:rs121964936). {ECO:0000269|PubMed:12472587}.|H -> R (in FA7D). {ECO:0000269|PubMed:19751712}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.H408Y(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGGAGGCCCACATGCCACCCA	0.632																																						uc001vsv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1222-1224)CAT>TAT		coagulation factor VII isoform a precursor	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						29.0	30.0	30.0					13																	113773143		2203	4299	6502	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113773143C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.1222C>T	13.37:g.113773143C>T	ENSP00000364731:p.His408Tyr					F7_uc001vsw.2_Missense_Mutation_p.H386Y|F7_uc010tjt.1_Missense_Mutation_p.H339Y	p.H408Y	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1273	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	408		H -> Q (in FA7D).|H -> R (in FA7D).	Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.1222C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355879	0.41700	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.88124	-2.34;-2.34;-2.34	4.11	4.11	0.48088	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.072835	0.56097	D	0.000024	D	0.87370	0.6160	N	0.12637	0.245	0.48632	D	0.999689	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.999	D	0.89792	0.3969	10	0.56958	D	0.05	.	16.9203	0.86162	0.0:1.0:0.0:0.0	.	339;386;408	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	Y	386;339;408	ENSP00000329546:H386Y;ENSP00000442051:H339Y;ENSP00000364731:H408Y	ENSP00000329546:H386Y	H	+	1	0	F7	112821144	0.985000	0.35326	0.034000	0.17996	0.022000	0.10575	3.679000	0.54634	2.277000	0.76020	0.467000	0.42956	CAT		PASS	0.632	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		14	4	14	4	---	---	---	---
ABHD4	63874	broad.mit.edu	37	14	23072983	23072983	+	Splice_Site	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr14:23072983G>A	ENST00000428304.2	+	4	709	c.639G>A	c.(637-639)tgG>tgA	p.W213*	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	213					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.W213*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTGGGCCCTGGGGTGAGTAGC	0.522																																						uc001wgm.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(637-639)TGG>TGA		abhydrolase domain containing 4							72.0	71.0	71.0					14																	23072983		2203	4300	6503	SO:0001630	splice_region_variant	63874				lipid catabolic process		hydrolase activity	g.chr14:23072983G>A	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.640+1G>A	14.37:g.23072983G>A						ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Nonsense_Mutation_p.W213*|ABHD4_uc010tnb.1_Intron	p.W213*	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	4	708	+	all_cancers(95;5.49e-05)		213					B4DDH7|Q9H9E0	Nonsense_Mutation	SNP	ENST00000428304.2	37	c.639G>A	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701307	0.68501	.	.	ENSG00000100439	ENST00000428304;ENST00000216327	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-9.7668	16.8221	0.85835	0.0:0.0:1.0:0.0	.	.	.	.	X	213;147	.	ENSP00000216327:W147X	W	+	3	0	ABHD4	22142823	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.579000	0.53900	2.644000	0.89710	0.655000	0.94253	TGG		PASS	0.522	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3		Nonsense_Mutation	22	38	22	38	---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64921543	64921543	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr14:64921543G>A	ENST00000545908.1	+	26	3065	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	MTHFD1_ENST00000216605.8_Missense_Mutation_p.D890N|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|MTHFD1_ENST00000556284.1_3'UTR			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	890					folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.D890N(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GCCCATTCGCGACATCCGCGC	0.532																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2668-2670)GAC>AAC		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						152.0	136.0	142.0					14																	64921543		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64921543G>A	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2836G>A	14.37:g.64921543G>A	ENSP00000438588:p.Asp946Asn					MTHFD1_uc010aqf.2_Missense_Mutation_p.D946N|ZBTB25_uc001xhc.2_Intron	p.D890N	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	26	3055	+			890			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2668G>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.951327	0.73787	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.25250	1.81;1.81;1.81	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	M	0.87971	2.92	0.80722	D	1	D;P	0.58970	0.984;0.647	P;B	0.45449	0.481;0.345	T	0.57797	-0.7749	10	0.59425	D	0.04	-27.0179	18.0654	0.89389	0.0:0.0:1.0:0.0	.	946;890	F5H2F4;G3V2B8	.;.	N	946;890;946	ENSP00000438588:D946N;ENSP00000450560:D890N;ENSP00000216605:D946N	ENSP00000216605:D890N	D	+	1	0	MTHFD1	63991296	1.000000	0.71417	0.955000	0.39395	0.260000	0.26232	9.601000	0.98297	2.559000	0.86315	0.563000	0.77884	GAC		PASS	0.532	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			10	144	10	144	---	---	---	---
SERPINA12	145264	broad.mit.edu	37	14	94964657	94964657	+	Silent	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr14:94964657T>C	ENST00000341228.2	-	3	873	c.78A>G	c.(76-78)tcA>tcG	p.S26S	SERPINA12_ENST00000556881.1_Silent_p.S26S	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	26					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S26S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AATTCCTTGGTGAGAAGCTCG	0.483																																						uc001ydj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(76-78)TCA>TCG		serine (or cysteine) proteinase inhibitor, clade							117.0	118.0	118.0					14																	94964657		2203	4300	6503	SO:0001819	synonymous_variant	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964657T>C	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.78A>G	14.37:g.94964657T>C							p.S26S	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	874	-			26						Silent	SNP	ENST00000341228.2	37	c.78A>G	CCDS9926.1																																																																																				PASS	0.483	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		83	84	83	84	---	---	---	---
JAG2	3714	broad.mit.edu	37	14	105617415	105617415	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr14:105617415A>G	ENST00000331782.3	-	10	1697	c.1294T>C	c.(1294-1296)Tgc>Cgc	p.C432R	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Intron	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	432	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.C432R(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCGTTAAGGCATGGCTTCCCT	0.582																																						uc001yqg.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(2)	5						c.(1294-1296)TGC>CGC		jagged 2 isoform a precursor							39.0	42.0	41.0					14																	105617415		2202	4296	6498	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105617415A>G	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1294T>C	14.37:g.105617415A>G	ENSP00000328169:p.Cys432Arg					JAG2_uc001yqf.2_5'UTR|JAG2_uc001yqh.2_Intron	p.C432R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	10	1698	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	432			Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1294T>C	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354825	0.61293	.	.	ENSG00000184916	ENST00000331782	D	0.99445	-5.91	4.16	4.16	0.48862	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99704	0.9887	H	0.98701	4.305	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.97507	1.0064	10	0.87932	D	0	.	11.1441	0.48419	1.0:0.0:0.0:0.0	.	432	Q9Y219	JAG2_HUMAN	R	432	ENSP00000328169:C432R	ENSP00000328169:C432R	C	-	1	0	JAG2	104688460	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.546000	0.67243	1.512000	0.48834	0.247000	0.18012	TGC		PASS	0.582	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			6	5	6	5	---	---	---	---
IGHV3-30	28439	broad.mit.edu	37	14	106791224	106791224	+	RNA	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr14:106791224A>G	ENST00000390613.2	-	0	211									immunoglobulin heavy variable 3-30																		AGGTGAATCCAGAGGCTGCAC	0.567																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							101.0	158.0	140.0					14																	106791224		1886	4146	6032			8755							g.chr14:106791224A>G	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791224A>G														386		-									RNA	SNP	ENST00000390613.2	37	c.14394T>C																																																																																					PASS	0.567	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		11	73	11	73	---	---	---	---
PLCB2	5330	broad.mit.edu	37	15	40586508	40586508	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr15:40586508C>T	ENST00000260402.3	-	19	2269	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PLCB2_ENST00000456256.2_Missense_Mutation_p.D674N|PLCB2_ENST00000557821.1_Missense_Mutation_p.D670N	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	674	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.D670N(1)|p.D674N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCGATGCGGTCCACTGAGAAG	0.597																																						uc001zld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(2020-2022)GAC>AAC		phospholipase C, beta 2							65.0	70.0	68.0					15																	40586508		2126	4246	6372	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40586508C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2020G>A	15.37:g.40586508C>T	ENSP00000260402:p.Asp674Asn					PLCB2_uc001zlc.2_5'Flank|PLCB2_uc010bbo.2_Missense_Mutation_p.D670N|PLCB2_uc010ucm.1_Missense_Mutation_p.D674N	p.D674N	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	19	2321	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	674			C2.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2020G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828851	0.71258	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.22945	1.96;1.93	4.84	4.84	0.62591	C2 membrane targeting protein (1);PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.174470	0.45126	D	0.000400	T	0.40886	0.1135	L	0.37750	1.13	0.80722	D	1	D;B;B	0.89917	1.0;0.358;0.067	D;B;B	0.87578	0.998;0.182;0.014	T	0.06215	-1.0839	10	0.21014	T	0.42	.	18.1483	0.89665	0.0:1.0:0.0:0.0	.	674;670;674	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	N	674	ENSP00000260402:D674N;ENSP00000411991:D674N	ENSP00000260402:D674N	D	-	1	0	PLCB2	38373800	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.962000	0.49176	2.528000	0.85240	0.561000	0.74099	GAC		PASS	0.597	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			25	73	25	73	---	---	---	---
SERINC4	619189	broad.mit.edu	37	15	44089090	44089090	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr15:44089090A>T	ENST00000319327.6	-	7	1127	c.893T>A	c.(892-894)aTc>aAc	p.I298N	RP11-296A16.1_ENST00000417761.2_Nonsense_Mutation_p.Y106*|SERINC4_ENST00000299969.6_Intron|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Missense_Mutation_p.I54N|HYPK_ENST00000406925.1_5'UTR	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	298					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)		p.I54N(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGATACATGATATAGCAGCT	0.493																																						uc010bds.1																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)ATC>AAC		serine incorporator 4							166.0	169.0	168.0					15																	44089090		2198	4298	6496	SO:0001583	missense	619189				phospholipid biosynthetic process	integral to membrane		g.chr15:44089090A>T	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.893T>A	15.37:g.44089090A>T	ENSP00000319796:p.Ile298Asn					ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Intron|SERINC4_uc001zte.1_Missense_Mutation_p.I54N	p.I54N	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	4	629	-		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	298			Helical; (Potential).		B2RN41|Q3YL75	Missense_Mutation	SNP	ENST00000319327.6	37	c.161T>A	CCDS58360.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.074613	0.76415	.	.	ENSG00000184716	ENST00000319327;ENST00000249714	T;T	0.15718	2.4;2.4	5.86	5.86	0.93980	.	0.056740	0.64402	D	0.000001	T	0.41236	0.1150	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.23226	-1.0194	10	0.72032	D	0.01	-23.7718	16.255	0.82510	1.0:0.0:0.0:0.0	.	54	A6NH21-2	.	N	298;54	ENSP00000319796:I298N;ENSP00000249714:I54N	ENSP00000249714:I54N	I	-	2	0	SERINC4	41876382	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.212000	0.72188	2.240000	0.73641	0.533000	0.62120	ATC		PASS	0.493	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2			69	259	69	259	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49073427	49073427	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr15:49073427T>C	ENST00000380950.2	-	12	1730	c.1543A>G	c.(1543-1545)Aaa>Gaa	p.K515E	CEP152_ENST00000399334.3_Missense_Mutation_p.K515E|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.K422E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	515					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.K515E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTGACCTTTTTAATACCCAAA	0.343																																						uc001zwy.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1543-1545)AAA>GAA		centrosomal protein 152kDa							105.0	99.0	101.0					15																	49073427		1803	4062	5865	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49073427T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1543A>G	15.37:g.49073427T>C	ENSP00000370337:p.Lys515Glu					CEP152_uc001zwz.2_Missense_Mutation_p.K515E|CEP152_uc001zxa.1_Missense_Mutation_p.K422E	p.K515E	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	12	1577	-		all_lung(180;0.0428)	515					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1543A>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664810	0.88251	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.82433	-1.61;-1.61;-1.61	5.95	5.95	0.96441	.	0.134550	0.64402	D	0.000007	D	0.90235	0.6947	M	0.76002	2.32	0.49389	D	0.999787	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.997	D	0.88451	0.3049	10	0.26408	T	0.33	-29.3231	16.085	0.81038	0.0:0.0:0.0:1.0	.	422;515;515	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	E	515;422;515;515	ENSP00000370337:K515E;ENSP00000321000:K422E;ENSP00000382271:K515E	ENSP00000321000:K422E	K	-	1	0	CEP152	46860719	1.000000	0.71417	0.982000	0.44146	0.905000	0.53344	4.903000	0.63272	2.276000	0.75962	0.528000	0.53228	AAA		PASS	0.343	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		65	197	65	197	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49081013	49081013	+	Silent	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr15:49081013G>C	ENST00000380950.2	-	9	1345	c.1158C>G	c.(1156-1158)acC>acG	p.T386T	CEP152_ENST00000399334.3_Silent_p.T386T|CEP152_ENST00000325747.5_Silent_p.T293T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	386					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.T386T(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTTTAAGTGCGGTGACTGTGG	0.378																																						uc001zwy.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(1156-1158)ACC>ACG		centrosomal protein 152kDa							188.0	176.0	180.0					15																	49081013		1921	4129	6050	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49081013G>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1158C>G	15.37:g.49081013G>C						CEP152_uc001zwz.2_Silent_p.T386T|CEP152_uc001zxa.1_Silent_p.T293T	p.T386T	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	9	1192	-		all_lung(180;0.0428)	386			Potential.		E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.1158C>G	CCDS58361.1																																																																																				PASS	0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		104	415	104	415	---	---	---	---
HDC	3067	broad.mit.edu	37	15	50544911	50544911	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr15:50544911C>T	ENST00000267845.3	-	8	1250	c.848G>A	c.(847-849)tGc>tAc	p.C283Y	HDC_ENST00000543581.1_Missense_Mutation_p.C283Y	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.C283Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		GAACTCGGGGCACAGGAAGGC	0.562																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(847-849)TGC>TAC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						50.0	51.0	50.0					15																	50544911		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50544911C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.848G>A	15.37:g.50544911C>T	ENSP00000267845:p.Cys283Tyr					HDC_uc001zxy.2_Missense_Mutation_p.C26Y|HDC_uc010uff.1_Missense_Mutation_p.C283Y	p.C283Y	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	8	954	-		all_lung(180;0.0138)	283						Missense_Mutation	SNP	ENST00000267845.3	37	c.848G>A	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596247	0.86953	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.49432	0.78;0.78	4.98	4.98	0.66077	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.046498	0.85682	D	0.000000	T	0.80691	0.4671	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.988;0.996	D	0.88311	0.2956	10	0.87932	D	0	-19.6401	18.2348	0.89946	0.0:1.0:0.0:0.0	.	283;283	B7ZM01;P19113	.;DCHS_HUMAN	Y	283	ENSP00000267845:C283Y;ENSP00000440252:C283Y	ENSP00000267845:C283Y	C	-	2	0	HDC	48332203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.319000	0.78375	0.561000	0.74099	TGC		PASS	0.562	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			11	52	11	52	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62266538	62266538	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr15:62266538C>A	ENST00000261517.5	-	25	2560	c.2487G>T	c.(2485-2487)atG>atT	p.M829I	VPS13C_ENST00000249837.3_Missense_Mutation_p.M786I|VPS13C_ENST00000395896.4_Missense_Mutation_p.M829I|VPS13C_ENST00000395898.3_Missense_Mutation_p.M786I	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.M829I(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTATACTGTTCATCAAATATA	0.348																																						uc002agz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2485-2487)ATG>ATT		vacuolar protein sorting 13C protein isoform 2A							123.0	120.0	121.0					15																	62266538		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62266538C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2487G>T	15.37:g.62266538C>A	ENSP00000261517:p.Met829Ile					VPS13C_uc002aha.2_Missense_Mutation_p.M786I|VPS13C_uc002ahb.1_Missense_Mutation_p.M829I|VPS13C_uc002ahc.1_Missense_Mutation_p.M786I	p.M829I	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			25	2561	-			829						Missense_Mutation	SNP	ENST00000261517.5	37	c.2487G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	1.637	-0.517416	0.04171	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.30714	1.52;1.52;1.52	5.01	-2.6	0.06190	.	0.524667	0.20485	N	0.091406	T	0.02888	0.0086	N	0.00049	-2.42	0.24203	N	0.995505	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.41502	-0.9505	10	0.02654	T	1	.	1.1894	0.01862	0.3434:0.3182:0.1517:0.1867	.	786;829;786;829	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	I	786;829;829;829	ENSP00000249837:M786I;ENSP00000261517:M829I;ENSP00000379233:M829I	ENSP00000249837:M786I	M	-	3	0	VPS13C	60053830	0.924000	0.31332	0.982000	0.44146	0.890000	0.51754	0.279000	0.18771	-0.188000	0.10499	-1.080000	0.02220	ATG		PASS	0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		52	174	52	174	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79051768	79051768	+	Missense_Mutation	SNP	G	G	A	rs367561272		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr15:79051768G>A	ENST00000388820.4	-	24	5266	c.5056C>T	c.(5056-5058)Cgc>Tgc	p.R1686C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1686					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1686C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGCAGTCAGCGGCGGGCAACC	0.731																																						uc002bej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(5056-5058)CGC>TGC		ADAM metallopeptidase with thrombospondin type 1		G	CYS/ARG	0,4196		0,0,2098	8.0	9.0	9.0		5056	2.9	0.2	15		9	1,8325		0,1,4162	no	missense	ADAMTS7	NM_014272.3	180	0,1,6260	AA,AG,GG		0.012,0.0,0.0080	probably-damaging	1686/1687	79051768	1,12521	2098	4163	6261	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051768G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.5056C>T	15.37:g.79051768G>A	ENSP00000373472:p.Arg1686Cys						p.R1686C	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			24	5267	-			1686					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.5056C>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.016066	0.54468	0.0	1.2E-4	ENSG00000136378	ENST00000388820	T	0.64085	-0.08	2.92	2.92	0.33932	.	0.292228	0.22739	U	0.056223	T	0.72011	0.3408	L	0.55481	1.735	0.47153	D	0.999334	D	0.89917	1.0	D	0.77557	0.99	T	0.74506	-0.3643	10	0.87932	D	0	.	10.979	0.47483	0.0:0.0:1.0:0.0	.	1686	Q9UKP4	ATS7_HUMAN	C	1686	ENSP00000373472:R1686C	ENSP00000373472:R1686C	R	-	1	0	ADAMTS7	76838823	0.737000	0.28175	0.224000	0.23877	0.473000	0.32948	0.642000	0.24735	1.639000	0.50556	0.282000	0.19409	CGC		PASS	0.731	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	12	4	12	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85400801	85400801	+	Silent	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr15:85400801G>T	ENST00000258888.5	+	6	3605	c.3438G>T	c.(3436-3438)ggG>ggT	p.G1146G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1146					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1146G(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGTGGAGGGGCGGACCCCAG	0.632																																						uc002ble.2																			2	Substitution - coding silent(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(3436-3438)GGG>GGT		alpha-kinase 3							39.0	45.0	43.0					15																	85400801		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400801G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3438G>T	15.37:g.85400801G>T							p.G1146G	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3605	+			1146					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.3438G>T	CCDS10333.1																																																																																				PASS	0.632	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		26	196	26	196	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2152898	2152898	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr16:2152898G>C	ENST00000262304.4	-	24	9073	c.8865C>G	c.(8863-8865)caC>caG	p.H2955Q	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.H2955Q	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2955					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.H2955Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGAGCAGTTGTGCTCATTGG	0.642																																						uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(8863-8865)CAC>CAG		polycystin 1 isoform 1 precursor							64.0	70.0	68.0					16																	2152898		2196	4290	6486	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2152898G>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8865C>G	16.37:g.2152898G>C	ENSP00000262304:p.His2955Gln					PKD1_uc002cot.1_Missense_Mutation_p.H2955Q|PKD1_uc010bse.1_RNA	p.H2955Q	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			24	9074	-			2955			Extracellular (Potential).		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8865C>G	CCDS32369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.33|10.33	1.320148|1.320148	0.23994|0.23994	.|.	.|.	ENSG00000008710|ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101|ENST00000382481	T;T|.	0.34072|.	1.38;1.38|.	4.55|4.55	3.59|3.59	0.41128|0.41128	.|.	0.401237|.	0.28214|.	N|.	0.016179|.	T|T	0.51719|0.51719	0.1691|0.1691	L|L	0.56769|0.56769	1.78|1.78	0.31862|0.31862	N|N	0.620847|0.620847	P;P|.	0.47106|.	0.89;0.725|.	P;B|.	0.49999|.	0.628;0.124|.	T|T	0.61744|0.61744	-0.7000|-0.7000	10|6	0.30078|0.87932	T|D	0.28|0	.|.	8.3924|8.3924	0.32537|0.32537	0.0814:0.0:0.7648:0.1538|0.0814:0.0:0.7648:0.1538	.|.	2955;2955|.	P98161-3;P98161|.	.;PKD1_HUMAN|.	Q|R	2955;2955;2290|1193	ENSP00000262304:H2955Q;ENSP00000399501:H2955Q|.	ENSP00000262304:H2955Q|ENSP00000371921:T1193R	H|T	-|-	3|2	2|0	PKD1|PKD1	2092899|2092899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.096000|0.096000	0.18686|0.18686	3.405000|3.405000	0.52630|0.52630	1.139000|1.139000	0.42245|0.42245	0.555000|0.555000	0.69702|0.69702	CAC|ACA		PASS	0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			6	140	6	140	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16208628	16208628	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr16:16208628G>A	ENST00000399410.3	+	23	3260	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	ABCC1_ENST00000349029.5_Missense_Mutation_p.A914T|ABCC1_ENST00000345148.5_Missense_Mutation_p.A1029T|ABCC1_ENST00000351154.5_Missense_Mutation_p.A970T|ABCC1_ENST00000399408.2_Missense_Mutation_p.A1039T|ABCC1_ENST00000346370.5_Missense_Mutation_p.A973T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1029	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A1029T(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TGCAGGGATCGCCGTGTTTGG	0.617																																						uc010bvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3085-3087)GCC>ACC		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						59.0	57.0	58.0					16																	16208628		2112	4234	6346	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16208628G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3085G>A	16.37:g.16208628G>A	ENSP00000382342:p.Ala1029Thr					ABCC1_uc010bvj.2_Missense_Mutation_p.A970T|ABCC1_uc010bvk.2_Missense_Mutation_p.A973T|ABCC1_uc010bvl.2_Missense_Mutation_p.A1029T|ABCC1_uc010bvm.2_Missense_Mutation_p.A914T|ABCC1_uc002del.3_Missense_Mutation_p.A923T	p.A1029T	NM_004996	NP_004987	P33527	MRP1_HUMAN			23	3260	+			1029			ABC transmembrane type-1 2.|Helical; Name=13.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3085G>A	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156992	0.38119	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.22	-9.54	0.00572	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.566933	0.20256	N	0.095975	T	0.78572	0.4304	N	0.16098	0.37	0.09310	N	1	B;B;B;P;B;B	0.35542	0.002;0.022;0.012;0.508;0.015;0.012	B;B;B;B;B;B	0.23150	0.005;0.02;0.016;0.044;0.016;0.016	T	0.74188	-0.3746	10	0.25106	T	0.35	-6.3505	5.256	0.15548	0.2952:0.0:0.3491:0.3557	.	914;1029;973;970;1029;1039	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	T	1029;1039;973;970;1029;914;713	ENSP00000382342:A1029T;ENSP00000382340:A1039T;ENSP00000263019:A973T;ENSP00000263017:A970T;ENSP00000263014:A1029T;ENSP00000263016:A914T	ENSP00000263014:A1029T	A	+	1	0	ABCC1	16116129	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.026000	0.12392	-1.931000	0.01055	0.561000	0.74099	GCC		PASS	0.617	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		13	28	13	28	---	---	---	---
MLKL	197259	broad.mit.edu	37	16	74709650	74709650	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr16:74709650C>T	ENST00000308807.7	-	8	1514	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.E351K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTCCTCAACTCAAATCCTGCA	0.438																																						uc002fdb.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)	2						c.(1051-1053)GAG>AAG		mixed lineage kinase domain-like isoform 1							117.0	112.0	114.0					16																	74709650		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74709650C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1051G>A	16.37:g.74709650C>T	ENSP00000308351:p.Glu351Lys					MLKL_uc002fdc.2_Intron	p.E351K	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN			8	1492	-			351			Protein kinase.			Missense_Mutation	SNP	ENST00000308807.7	37	c.1051G>A	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476021	0.44044	.	.	ENSG00000168404	ENST00000308807	D	0.93247	-3.19	4.74	2.75	0.32379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053116	0.64402	D	0.000001	D	0.93762	0.8006	M	0.73962	2.25	0.34353	D	0.69008	D	0.57899	0.981	P	0.56514	0.8	D	0.92546	0.6046	10	0.26408	T	0.33	-10.541	7.1024	0.25344	0.0:0.7147:0.1871:0.0982	.	351	Q8NB16	MLKL_HUMAN	K	351	ENSP00000308351:E351K	ENSP00000308351:E351K	E	-	1	0	MLKL	73267151	0.881000	0.30235	0.983000	0.44433	0.040000	0.13550	0.791000	0.26915	0.666000	0.31087	0.498000	0.49722	GAG		PASS	0.438	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		6	137	6	137	---	---	---	---
MAP1LC3B	81631	broad.mit.edu	37	16	87436590	87436590	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr16:87436590G>T	ENST00000268607.5	+	4	893	c.265G>T	c.(265-267)Gtc>Ttc	p.V89F	MAP1LC3B_ENST00000534986.1_Missense_Mutation_p.V30F|RP11-178L8.3_ENST00000569147.1_RNA	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta	89					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasmic vesicle (GO:0031410)|intracellular (GO:0005622)|microtubule (GO:0005874)|organelle membrane (GO:0031090)		p.V89F(1)		endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		ACACAGCATGGTCAGCGTCTC	0.458																																						uc002fjx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GTC>TTC		microtubule-associated proteins 1A/1B light							102.0	83.0	89.0					16																	87436590		2198	4297	6495	SO:0001583	missense	81631				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr16:87436590G>T	AF087871	CCDS10960.1	16q24.2	2014-02-12			ENSG00000140941	ENSG00000140941			13352	protein-coding gene	gene with protein product		609604					Standard	NM_022818		Approved	ATG8F	uc002fjx.3	Q9GZQ8	OTTHUMG00000137654	ENST00000268607.5:c.265G>T	16.37:g.87436590G>T	ENSP00000268607:p.Val89Phe					MAP1LC3B_uc010chs.2_RNA	p.V89F	NM_022818	NP_073729	Q9GZQ8	MLP3B_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0249)	4	498	+			89					Q6NW02	Missense_Mutation	SNP	ENST00000268607.5	37	c.265G>T	CCDS10960.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436642	0.96168	.	.	ENSG00000140941	ENST00000268607;ENST00000534986	T;T	0.48522	0.81;0.81	5.47	5.47	0.80525	.	0.000000	0.64402	U	0.000001	T	0.71022	0.3291	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.73949	-0.3821	10	0.87932	D	0	.	19.6948	0.96021	0.0:0.0:1.0:0.0	.	89	Q9GZQ8	MLP3B_HUMAN	F	89;30	ENSP00000268607:V89F;ENSP00000441125:V30F	ENSP00000268607:V89F	V	+	1	0	MAP1LC3B	85994091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.640000	0.98453	2.723000	0.93209	0.655000	0.94253	GTC		PASS	0.458	MAP1LC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269106.1			6	75	6	75	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr17:7577550C>T	ENST00000269305.4	-	7	920	c.731G>A	c.(730-732)gGc>gAc	p.G244D	TP53_ENST00000420246.2_Missense_Mutation_p.G244D|TP53_ENST00000455263.2_Missense_Mutation_p.G244D|TP53_ENST00000413465.2_Missense_Mutation_p.G244D|TP53_ENST00000445888.2_Missense_Mutation_p.G244D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G244D	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(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)	GTTCATGCCGCCCATGCAGGA	0.577		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		104	Substitution - Missense(75)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(4)|Deletion - Frameshift(4)|Deletion - In frame(3)	p.G244S(35)|p.G244C(34)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)	large_intestine(21)|liver(16)|haematopoietic_and_lymphoid_tissue(9)|ovary(9)|stomach(7)|breast(7)|lung(7)|biliary_tract(6)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|central_nervous_system(3)|oesophagus(2)|cervix(1)|vulva(1)|endometrium(1)|salivary_gland(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM056069|CM070298	TP53	M	rs28934572	c.(730-732)GGC>GAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							148.0	111.0	124.0					17																	7577550		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.chr17:7577550C>T	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.731G>A	17.37:g.7577550C>T	ENSP00000269305:p.Gly244Asp	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.G244D|TP53_uc002gih.2_Missense_Mutation_p.G244D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112D|TP53_uc010cng.1_Missense_Mutation_p.G112D|TP53_uc002gii.1_Missense_Mutation_p.G112D|TP53_uc010cnh.1_Missense_Mutation_p.G244D|TP53_uc010cni.1_Missense_Mutation_p.G244D|TP53_uc002gij.2_Missense_Mutation_p.G244D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151D|TP53_uc002gio.2_Missense_Mutation_p.G112D	p.G244D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	925	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.731G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842901	0.91197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934572	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244D;ENSP00000352610:G244D;ENSP00000269305:G244D;ENSP00000398846:G244D;ENSP00000391127:G244D;ENSP00000391478:G244D;ENSP00000425104:G112D;ENSP00000423862:G151D	ENSP00000269305:G244D	G	-	2	0	TP53	7518275	1.000000	0.71417	0.965000	0.40720	0.979000	0.70002	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		PASS	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	35	20	35	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18022280	18022280	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr17:18022280G>A	ENST00000205890.5	+	2	504	c.166G>A	c.(166-168)Gcc>Acc	p.A56T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	56					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A56T(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTTCCGCAGCGCCTCGGCCTT	0.642																																						uc010vxh.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(166-168)GCC>ACC		myosin XV							27.0	35.0	32.0					17																	18022280		1922	4098	6020	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022280G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.166G>A	17.37:g.18022280G>A	ENSP00000205890:p.Ala56Thr						p.A56T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	504	+	all_neural(463;0.228)		56			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.166G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883061	0.51908	.	.	ENSG00000091536	ENST00000205890	D	0.91351	-2.83	5.37	5.37	0.77165	.	.	.	.	.	D	0.87042	0.6079	L	0.29908	0.895	0.80722	D	1	D	0.58620	0.983	B	0.42771	0.397	D	0.89118	0.3501	9	0.72032	D	0.01	.	18.695	0.91598	0.0:0.0:1.0:0.0	.	56	Q9UKN7	MYO15_HUMAN	T	56	ENSP00000205890:A56T	ENSP00000205890:A56T	A	+	1	0	MYO15A	17963005	0.954000	0.32549	0.942000	0.38095	0.199000	0.23934	2.249000	0.43169	2.524000	0.85096	0.561000	0.74099	GCC		PASS	0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		20	17	20	17	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	32483299	32483299	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr17:32483299C>G	ENST00000359872.6	-	1	1014	c.253G>C	c.(253-255)Gtc>Ctc	p.V85L		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	85					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.V85L(1)								Amiloride(DB00594)	GCTGGGAAGACCAGGCTTTGA	0.582																																						uc002hhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(253-255)GTC>CTC		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						74.0	82.0	80.0					17																	32483299		2192	4289	6481	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483299C>G	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.253G>C	17.37:g.32483299C>G	ENSP00000352934:p.Val85Leu						p.V85L	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	527	-		Breast(31;0.042)|Ovarian(249;0.202)	85			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.253G>C	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817321	0.32145	.	.	ENSG00000108684	ENST00000359872	T	0.62941	-0.01	4.96	4.96	0.65561	.	.	.	.	.	T	0.54191	0.1843	L	0.41906	1.305	0.20975	N	0.999811	B	0.14012	0.009	B	0.15052	0.012	T	0.34825	-0.9813	9	0.20519	T	0.43	.	15.7471	0.77955	0.0:1.0:0.0:0.0	.	85	Q16515	ACCN1_HUMAN	L	85	ENSP00000352934:V85L	ENSP00000352934:V85L	V	-	1	0	ACCN1	29507412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.852000	0.55934	2.559000	0.86315	0.655000	0.94253	GTC		PASS	0.582	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		30	53	30	53	---	---	---	---
TMEM101	84336	broad.mit.edu	37	17	42089432	42089432	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr17:42089432G>A	ENST00000589334.1	-	5	953	c.638C>T	c.(637-639)cCt>cTt	p.P213L	TMEM101_ENST00000206380.3_Missense_Mutation_p.P213L|TMEM101_ENST00000542039.1_Missense_Mutation_p.P155L			Q96IK0	TM101_HUMAN	transmembrane protein 101	213					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.P213L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAGCATGACAGGGGGCAGCAG	0.562																																						uc002ieu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(637-639)CCT>CTT		transmembrane protein 101							119.0	92.0	101.0					17																	42089432		2203	4300	6503	SO:0001583	missense	84336				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr17:42089432G>A	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.638C>T	17.37:g.42089432G>A	ENSP00000468025:p.Pro213Leu					TMEM101_uc010wis.1_Missense_Mutation_p.P155L	p.P213L	NM_032376	NP_115752	Q96IK0	TM101_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	663	-		Breast(137;0.0264)|Prostate(33;0.0861)	213			Helical; (Potential).		B2R9N6	Missense_Mutation	SNP	ENST00000589334.1	37	c.638C>T	CCDS11474.1	.	.	.	.	.	.	.	.	.	.	G	7.700	0.692963	0.15039	.	.	ENSG00000091947	ENST00000206380;ENST00000542039	.	.	.	5.56	4.51	0.55191	.	0.145918	0.47455	D	0.000233	T	0.14527	0.0351	N	0.01576	-0.805	0.49687	D	0.999812	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	9	0.02654	T	1	-11.8311	5.1272	0.14890	0.2406:0.0:0.7594:0.0	.	213	Q96IK0	TM101_HUMAN	L	213;155	.	ENSP00000206380:P213L	P	-	2	0	TMEM101	39444958	1.000000	0.71417	0.969000	0.41365	0.982000	0.71751	4.548000	0.60718	2.615000	0.88500	0.484000	0.47621	CCT		PASS	0.562	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		42	83	42	83	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48275825	48275825	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr17:48275825G>A	ENST00000225964.5	-	6	630	c.512C>T	c.(511-513)tCa>tTa	p.S171L		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	171	Nonhelical region (N-terminal).				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.S171L(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCCTCCGGTTGATTTCTCATC	0.522			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(511-513)TCA>TTA		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						51.0	49.0	50.0					17																	48275825		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48275825G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.512C>T	17.37:g.48275825G>A	ENSP00000225964:p.Ser171Leu		OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	953		p.S171L	NM_000088	NP_000079	P02452	CO1A1_HUMAN			6	638	-			171			Nonhelical region (N-terminal).		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.512C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184902	0.78677	.	.	ENSG00000108821	ENST00000225964	D	0.89681	-2.55	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	D	0.88332	0.6408	M	0.74258	2.255	0.80722	D	1	B	0.32245	0.361	B	0.34093	0.175	D	0.85614	0.1260	10	0.11485	T	0.65	.	17.8534	0.88755	0.0:0.0:1.0:0.0	.	171	P02452	CO1A1_HUMAN	L	171	ENSP00000225964:S171L	ENSP00000225964:S171L	S	-	2	0	COL1A1	45630824	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	9.548000	0.98103	2.511000	0.84671	0.650000	0.86243	TCA		PASS	0.522	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			13	25	13	25	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78282826	78282826	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr17:78282826A>G	ENST00000582970.1	+	14	2653	c.2510A>G	c.(2509-2511)gAg>gGg	p.E837G	RNF213_ENST00000508628.2_Missense_Mutation_p.E886G|RNF213_ENST00000319921.4_Missense_Mutation_p.E837G|RNF213_ENST00000456466.1_Missense_Mutation_p.E837G	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	837					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E837G(2)|p.E886G(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGATTCCCGAGGAGGCCTTG	0.478																																						uc002jyf.2																			3	Substitution - Missense(3)		lung(3)								c.(2509-2511)GAG>GGG		hypothetical protein LOC57714							118.0	112.0	114.0					17																	78282826		2203	4300	6503	SO:0001583	missense	0							g.chr17:78282826A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2510A>G	17.37:g.78282826A>G	ENSP00000464087:p.Glu837Gly					uc002jyg.1_Missense_Mutation_p.E568G	p.E837G	NM_020954	NP_066005					14	2653	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.2510A>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	9.253	1.041262	0.19669	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.14144	2.53;2.53	5.38	3.11	0.35812	.	0.905605	0.09401	N	0.807232	T	0.10723	0.0262	L	0.35723	1.085	0.09310	N	0.99999	B;B	0.15930	0.008;0.015	B;B	0.17433	0.018;0.016	T	0.44559	-0.9320	10	0.12430	T	0.62	-18.0606	7.6291	0.28228	0.8399:0.0:0.1601:0.0	.	837;837	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	G	837;886;837;837	ENSP00000392123:E837G;ENSP00000324392:E837G	ENSP00000324392:E837G	E	+	2	0	RNF213	75897421	0.002000	0.14202	0.011000	0.14972	0.017000	0.09413	0.919000	0.28692	0.406000	0.25560	0.533000	0.62120	GAG		PASS	0.478	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		49	144	49	144	---	---	---	---
LRRC30	339291	broad.mit.edu	37	18	7231499	7231499	+	Silent	SNP	C	C	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr18:7231499C>G	ENST00000383467.2	+	1	377	c.363C>G	c.(361-363)gtC>gtG	p.V121V		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	121								p.V121V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCCTCAAGGTCCTGTTTGTCA	0.602																																						uc010wzk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|liver(1)	2						c.(361-363)GTC>GTG		leucine rich repeat containing 30							38.0	44.0	42.0					18																	7231499		2024	4186	6210	SO:0001819	synonymous_variant	339291							g.chr18:7231499C>G		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.363C>G	18.37:g.7231499C>G							p.V121V	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	363	+			121			LRR 3.			Silent	SNP	ENST00000383467.2	37	c.363C>G	CCDS42409.1																																																																																				PASS	0.602	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		25	56	25	56	---	---	---	---
IMPACT	55364	broad.mit.edu	37	18	22007887	22007887	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr18:22007887A>C	ENST00000284202.4	+	2	182	c.41A>C	c.(40-42)gAg>gCg	p.E14A	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	14	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.E14A(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TTTCAGAATGAGGAAATTGAA	0.323																																						uc002kvh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)GAG>GCG		Impact homolog							115.0	117.0	117.0					18																	22007887		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22007887A>C	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.41A>C	18.37:g.22007887A>C	ENSP00000284202:p.Glu14Ala					IMPACT_uc002kvg.3_5'UTR	p.E14A	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN			2	153	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		14			RWD.		A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.41A>C	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990969	0.35131	.	.	ENSG00000154059	ENST00000284202	T	0.25414	1.8	5.17	5.17	0.71159	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.105162	0.64402	D	0.000005	T	0.49372	0.1553	M	0.71036	2.16	0.49687	D	0.999811	D	0.71674	0.998	D	0.70227	0.968	T	0.52779	-0.8530	10	0.72032	D	0.01	.	14.2654	0.66113	1.0:0.0:0.0:0.0	.	14	Q9P2X3	IMPCT_HUMAN	A	14	ENSP00000284202:E14A	ENSP00000284202:E14A	E	+	2	0	IMPACT	20261885	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.223000	0.78033	2.066000	0.61787	0.374000	0.22700	GAG		PASS	0.323	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		73	164	73	164	---	---	---	---
CELF4	56853	broad.mit.edu	37	18	35145471	35145471	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr18:35145471G>A	ENST00000591282.1	-	1	133	c.134C>T	c.(133-135)aCc>aTc	p.T45I	CELF4_ENST00000361795.5_Missense_Mutation_p.T45I|CELF4_ENST00000591287.1_Missense_Mutation_p.T45I|CELF4_ENST00000334919.5_Missense_Mutation_p.T45I|CELF4_ENST00000603232.1_Missense_Mutation_p.T45I|CELF4_ENST00000601019.1_Missense_Mutation_p.T45I|CELF4_ENST00000412753.1_Missense_Mutation_p.T45I|CELF4_ENST00000588597.1_Missense_Mutation_p.T45I|CELF4_ENST00000420428.2_Missense_Mutation_p.T45I			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	45	Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.T45I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CATGGGAATGGTCGACGGGTT	0.612																																						uc002lae.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(133-135)ACC>ATC		bruno-like 4, RNA binding protein isoform 1							101.0	90.0	94.0					18																	35145471		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:35145471G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.134C>T	18.37:g.35145471G>A	ENSP00000464794:p.Thr45Ile					CELF4_uc010dnd.1_Missense_Mutation_p.T45I|CELF4_uc002lag.2_Missense_Mutation_p.T45I|CELF4_uc002laf.2_Missense_Mutation_p.T41I|CELF4_uc002lai.2_Missense_Mutation_p.T41I	p.T45I	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			1	530	-			45			Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.134C>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670427	0.47677	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	4.73	4.73	0.59995	.	0.296864	0.30830	N	0.008787	T	0.39145	0.1067	L	0.44542	1.39	0.46849	D	0.999225	B;B;P;B;B	0.38565	0.38;0.329;0.637;0.397;0.262	B;B;B;B;B	0.42653	0.189;0.051;0.394;0.098;0.133	T	0.19943	-1.0290	10	0.40728	T	0.16	-12.2873	18.6143	0.91296	0.0:0.0:1.0:0.0	.	45;45;45;45;45	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	I	45	ENSP00000355089:T45I;ENSP00000406823:T45I;ENSP00000410584:T45I;ENSP00000335631:T45I	ENSP00000335631:T45I	T	-	2	0	CELF4	33399469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.134000	0.77268	2.548000	0.85928	0.650000	0.86243	ACC		PASS	0.612	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		22	54	22	54	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50731683	50731683	+	Silent	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr18:50731683A>T	ENST00000442544.2	+	10	2287	c.1671A>T	c.(1669-1671)ccA>ccT	p.P557P	DCC_ENST00000581580.1_Silent_p.P212P|DCC_ENST00000412726.1_Silent_p.P405P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	557	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P557P(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAAACGGTCCAGTCCAAGGTT	0.488																																						uc002lfe.1																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1669-1671)CCA>CCT		netrin receptor DCC precursor							201.0	188.0	192.0					18																	50731683		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50731683A>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1671A>T	18.37:g.50731683A>T						DCC_uc010xdr.1_Silent_p.P405P|DCC_uc010dpf.1_Silent_p.P212P	p.P557P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	10	2258	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	557			Extracellular (Potential).|Fibronectin type-III 2.			Silent	SNP	ENST00000442544.2	37	c.1671A>T	CCDS11952.1																																																																																				PASS	0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		84	208	84	208	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61390434	61390434	+	RNA	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr18:61390434A>G	ENST00000382749.5	+	0	1225				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y125C(1)|p.Y327C(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AAGGGCCTATATTTATCAAAA	0.478																																					Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(979-981)TAT>TGT		serpin peptidase inhibitor, clade B, member 11							45.0	45.0	45.0					18																	61390434		2184	4293	6477			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61390434A>G			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390434A>G						SERPINB11_uc010xes.1_Missense_Mutation_p.Y152C|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Missense_Mutation_p.Y213C|SERPINB11_uc010dqe.2_Missense_Mutation_p.Y126C|SERPINB11_uc010dqf.2_Missense_Mutation_p.Y125C	p.Y327C	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			9	1042	+		Esophageal squamous(42;0.129)	327					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37	c.980A>G		.	.	.	.	.	.	.	.	.	.	A	10.30	1.312064	0.23821	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;T;D	0.83591	-1.74;2.67;-1.74	5.05	-2.8	0.05823	Serpin domain (3);	0.562155	0.16213	N	0.224400	D	0.85626	0.5740	M	0.67953	2.075	0.09310	N	1	D;D;D;D	0.89917	0.999;0.992;0.991;1.0	D;P;P;D	0.72982	0.939;0.724;0.793;0.979	T	0.75803	-0.3189	10	0.36615	T	0.2	.	7.132	0.25507	0.3906:0.1252:0.0:0.4842	.	152;125;240;327	F5GWT8;F5GY69;Q96P15-2;Q96P15	.;.;.;SPB11_HUMAN	C	327;125;152	ENSP00000441497:Y327C;ENSP00000440795:Y125C;ENSP00000441708:Y152C	ENSP00000421854:Y327C	Y	+	2	0	SERPINB11	59541414	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.113000	0.10774	-0.271000	0.09272	0.533000	0.62120	TAT		PASS	0.478	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		19	39	19	39	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67816249	67816249	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr18:67816249G>C	ENST00000255674.6	-	17	2483	c.2197C>G	c.(2197-2199)Ctg>Gtg	p.L733V	RTTN_ENST00000454359.1_Missense_Mutation_p.L733V|RTTN_ENST00000437017.1_Missense_Mutation_p.L733V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	733					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L733V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGTTACCCAGAGGATCTTCT	0.368																																						uc002lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(2197-2199)CTG>GTG		rotatin							144.0	135.0	138.0					18																	67816249		1846	4092	5938	SO:0001583	missense	25914						binding	g.chr18:67816249G>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2197C>G	18.37:g.67816249G>C	ENSP00000255674:p.Leu733Val					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	p.L733V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			17	2265	-		Esophageal squamous(42;0.129)	733					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.2197C>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	g	15.42	2.828446	0.50845	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.65732	2.82;-0.17;-0.1	5.06	-1.64	0.08318	Armadillo-like helical (1);Armadillo-type fold (1);	0.082287	0.49916	D	0.000128	T	0.70631	0.3246	M	0.65498	2.005	0.33986	D	0.648584	D	0.76494	0.999	D	0.64877	0.93	T	0.74825	-0.3533	10	0.49607	T	0.09	.	11.8783	0.52560	0.43:0.0:0.57:0.0	.	733	Q86VV8	RTTN_HUMAN	V	733	ENSP00000255674:L733V;ENSP00000402352:L733V;ENSP00000399520:L733V	ENSP00000255674:L733V	L	-	1	2	RTTN	65967229	0.061000	0.20836	0.071000	0.20095	0.961000	0.63080	0.297000	0.19101	-0.593000	0.05844	-0.404000	0.06349	CTG		PASS	0.368	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		62	133	62	133	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2210489	2210489	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:2210489G>T	ENST00000398665.3	+	13	1132	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	366					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.G366C(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGTGGCCGGCCCCGCCGA	0.736																																						uc002lvb.3																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1096-1098)GGC>TGC		DOT1-like, histone H3 methyltransferase							8.0	12.0	11.0					19																	2210489		1903	4040	5943	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210489G>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1096G>T	19.37:g.2210489G>T	ENSP00000381657:p.Gly366Cys					DOT1L_uc002lvc.1_5'Flank	p.G366C	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1132	+		Hepatocellular(1079;0.137)	366					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1096G>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438692	0.43326	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.22945	1.93	4.64	3.58	0.41010	.	1.299680	0.05655	N	0.585787	T	0.15912	0.0383	N	0.02011	-0.69	0.09310	N	1	P	0.43909	0.821	P	0.45998	0.5	T	0.28744	-1.0034	10	0.87932	D	0	-1.3214	8.2843	0.31920	0.0876:0.155:0.7574:0.0	.	366	Q8TEK3-2	.	C	366	ENSP00000381657:G366C	ENSP00000221482:G366C	G	+	1	0	DOT1L	2161489	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.516000	0.22817	1.060000	0.40578	0.561000	0.74099	GGC		PASS	0.736	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		8	17	8	17	---	---	---	---
ZNF57	126295	broad.mit.edu	37	19	2917240	2917240	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:2917240T>A	ENST00000306908.5	+	4	769	c.621T>A	c.(619-621)caT>caA	p.H207Q	ZNF57_ENST00000523428.1_Missense_Mutation_p.H175Q|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H207Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCCAACATCCTCGTTACC	0.498																																					NSCLC(150;910 1964 4303 10464 26498)	uc002lwr.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(619-621)CAT>CAA		zinc finger protein 57							124.0	95.0	105.0					19																	2917240		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917240T>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.621T>A	19.37:g.2917240T>A	ENSP00000303696:p.His207Gln					ZNF57_uc010xha.1_Missense_Mutation_p.H175Q	p.H207Q	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	769	+			207			C2H2-type 2; degenerate.		Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.621T>A	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	T	5.626	0.300222	0.10622	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.14022	2.54;2.54	2.34	-4.69	0.03299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.01640	-0.785	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.40979	-0.9534	9	0.15952	T	0.53	.	0.2403	0.00191	0.3399:0.2578:0.1721:0.2302	.	207	Q68EA5	ZNF57_HUMAN	Q	207;209;175	ENSP00000303696:H207Q;ENSP00000430223:H175Q	ENSP00000303696:H207Q	H	+	3	2	ZNF57	2868240	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.482000	0.00119	-0.804000	0.04410	-0.558000	0.04189	CAT		PASS	0.498	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		29	72	29	72	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6501604	6501604	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:6501604T>A	ENST00000264071.2	-	2	459	c.88A>T	c.(88-90)Atc>Ttc	p.I30F	TUBB4A_ENST00000540257.1_Missense_Mutation_p.I30F|TUBB4A_ENST00000596926.1_Missense_Mutation_p.I30F|TUBB4A_ENST00000598006.1_Intron|TUBB4A_ENST00000601152.1_Intron			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	30					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.I30F(1)									GTGGGGTCGATGCCATGTTCG	0.582																																						uc002mfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(88-90)ATC>TTC		tubulin, beta 4							172.0	136.0	148.0					19																	6501604		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6501604T>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.88A>T	19.37:g.6501604T>A	ENSP00000264071:p.Ile30Phe					TUBB4_uc002mff.1_5'UTR	p.I30F	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	2	195	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	30					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.88A>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504185	0.64410	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.72725	-0.68;-0.68	3.83	3.83	0.44106	.	0.000000	0.64402	U	0.000007	D	0.87939	0.6304	H	0.98314	4.2	0.58432	D	0.999994	P	0.50443	0.935	P	0.59115	0.852	D	0.91069	0.4891	10	0.87932	D	0	.	11.5728	0.50843	0.0:0.0:0.0:1.0	.	30	P04350	TBB4A_HUMAN	F	30	ENSP00000264071:I30F;ENSP00000443590:I30F	ENSP00000264071:I30F	I	-	1	0	TUBB4	6452604	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.120000	0.71596	1.384000	0.46424	0.260000	0.18958	ATC		PASS	0.582	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		31	73	31	73	---	---	---	---
RAVER1	125950	broad.mit.edu	37	19	10439562	10439562	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:10439562T>A	ENST00000293677.6	-	3	644	c.563A>T	c.(562-564)cAa>cTa	p.Q188L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	171	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q188L(1)|p.Q171L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCCCTTGGATTGGCCAGTGCG	0.637																																						uc002moa.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(562-564)CAA>CTA		RAVER1							30.0	36.0	34.0					19																	10439562		2098	4228	6326	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439562T>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.563A>T	19.37:g.10439562T>A	ENSP00000293677:p.Gln188Leu						p.Q188L	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	643	-			171			RRM 2.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.563A>T	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424512	0.43020	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.16743	2.32	5.07	5.07	0.68467	.	0.106384	0.64402	D	0.000005	T	0.10551	0.0258	N	0.17922	0.545	0.23681	N	0.997126	B	0.02656	0.0	B	0.04013	0.001	T	0.15549	-1.0433	10	0.41790	T	0.15	-26.0727	7.5567	0.27829	0.0:0.0953:0.0:0.9047	.	188	E9PAU2	.	L	188;171	ENSP00000293677:Q188L	ENSP00000293677:Q188L	Q	-	2	0	RAVER1	10300562	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.114000	0.50383	1.911000	0.55334	0.528000	0.53228	CAA		PASS	0.637	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		4	54	4	54	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:10600447G>A	ENST00000171111.5	-	4	1955	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TAAAGGAGACGATTGAGGACA	0.557																																						uc002moq.1																			4	Substitution - Missense(4)		lung(4)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1408-1410)CGT>TGT		kelch-like ECH-associated protein 1							74.0	61.0	65.0					19																	10600447		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600447G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1408C>T	19.37:g.10600447G>A	ENSP00000171111:p.Arg470Cys					KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C	p.R470C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1564	-			470			Kelch 3.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1408C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867320	0.32977	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.77877	-1.13;-1.13	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.055235	0.64402	D	0.000001	T	0.77598	0.4154	M	0.74647	2.275	0.80722	D	1	P	0.40083	0.702	B	0.39217	0.294	T	0.80473	-0.1367	10	0.72032	D	0.01	.	12.5198	0.56052	0.0:0.0:0.8334:0.1666	.	470	Q14145	KEAP1_HUMAN	C	470	ENSP00000171111:R470C;ENSP00000377245:R470C	ENSP00000171111:R470C	R	-	1	0	KEAP1	10461447	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	1.138000	0.31491	2.752000	0.94435	0.558000	0.71614	CGT		PASS	0.557	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		21	39	21	39	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461559	12461559	+	Silent	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:12461559A>G	ENST00000242804.4	-	6	1422	c.840T>C	c.(838-840)taT>taC	p.Y280Y	ZNF442_ENST00000438182.1_Silent_p.Y211Y|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y280Y(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CATGTCTTACATAGGAACTGT	0.398																																						uc002mtr.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|breast(1)|kidney(1)	4						c.(838-840)TAT>TAC		zinc finger protein 442							158.0	154.0	156.0					19																	12461559		2203	4300	6503	SO:0001819	synonymous_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461559A>G	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.840T>C	19.37:g.12461559A>G						ZNF442_uc010xmk.1_Silent_p.Y211Y	p.Y280Y	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			6	1451	-			280			C2H2-type 4.		B4DJ48	Silent	SNP	ENST00000242804.4	37	c.840T>C	CCDS12271.1																																																																																				PASS	0.398	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		141	246	141	246	---	---	---	---
CCDC105	126402	broad.mit.edu	37	19	15131288	15131288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:15131288C>T	ENST00000292574.3	+	3	773	c.691C>T	c.(691-693)Cga>Tga	p.R231*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	231						extracellular vesicular exosome (GO:0070062)		p.R231*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGCCTCCTGCCGAGACACTCT	0.587																																						uc002nae.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(691-693)CGA>TGA		coiled-coil domain containing 105							41.0	37.0	38.0					19																	15131288		2203	4300	6503	SO:0001587	stop_gained	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131288C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.691C>T	19.37:g.15131288C>T	ENSP00000292574:p.Arg231*						p.R231*	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			3	790	+			231					Q8N7T5|Q8NDL5	Nonsense_Mutation	SNP	ENST00000292574.3	37	c.691C>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861742	0.71949	.	.	ENSG00000160994	ENST00000292574	.	.	.	4.09	-0.202	0.13208	.	0.119263	0.33364	N	0.004995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0744	10.6813	0.45815	0.6466:0.3534:0.0:0.0	.	.	.	.	X	231	.	ENSP00000292574:R231X	R	+	1	2	CCDC105	14992288	0.000000	0.05858	0.202000	0.23494	0.438000	0.31896	-0.388000	0.07352	-0.226000	0.09899	0.558000	0.71614	CGA		PASS	0.587	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		6	29	6	29	---	---	---	---
ZNF101	94039	broad.mit.edu	37	19	19790295	19790295	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:19790295A>G	ENST00000592502.1	+	4	607	c.497A>G	c.(496-498)aAg>aGg	p.K166R	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.K46R			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K166R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CCAACTCGAAAGAGACCTTAT	0.468																																						uc002nni.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(496-498)AAG>AGG		zinc finger protein 101							96.0	100.0	99.0					19																	19790295		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790295A>G	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.497A>G	19.37:g.19790295A>G	ENSP00000468049:p.Lys166Arg					ZNF101_uc010ecg.1_Missense_Mutation_p.K46R|ZNF101_uc002nnj.1_Missense_Mutation_p.K46R	p.K166R	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN			4	607	+			166					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.497A>G	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	A	9.898	1.206119	0.22205	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.11604	2.76;2.76	0.235	0.235	0.15431	.	.	.	.	.	T	0.04998	0.0134	N	0.08118	0	0.20489	N	0.999896	B	0.20671	0.047	B	0.15052	0.012	T	0.37291	-0.9712	9	0.72032	D	0.01	.	4.8392	0.13481	0.9998:0.0:2.0E-4:0.0	.	166	Q8IZC7	ZN101_HUMAN	R	166;166;46	ENSP00000319716:K166R;ENSP00000400952:K46R	ENSP00000319716:K166R	K	+	2	0	ZNF101	19651295	0.672000	0.27530	0.196000	0.23383	0.198000	0.23893	0.438000	0.21559	0.263000	0.21812	0.260000	0.18958	AAG		PASS	0.468	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		59	162	59	162	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22362956	22362956	+	Silent	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:22362956A>T	ENST00000397121.2	-	3	1880	c.1563T>A	c.(1561-1563)acT>acA	p.T521T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T521T(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTTATGTTCAGTAAGGATCG	0.403																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1561-1563)ACT>ACA		zinc finger protein 676							61.0	65.0	64.0					19																	22362956		2147	4266	6413	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362956A>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1563T>A	19.37:g.22362956A>T							p.T521T	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1881	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	521			C2H2-type 13.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.1563T>A	CCDS42539.1																																																																																				PASS	0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		64	125	64	125	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22364342	22364342	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:22364342T>C	ENST00000397121.2	-	3	494	c.177A>G	c.(175-177)atA>atG	p.I59M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I59M(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAGAATCTTCTATGCCTTGCT	0.303																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)ATA>ATG		zinc finger protein 676							47.0	42.0	44.0					19																	22364342		1885	4136	6021	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364342T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.177A>G	19.37:g.22364342T>C	ENSP00000380310:p.Ile59Met						p.I59M	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	495	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	59					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.177A>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	2.642	-0.283838	0.05642	.	.	ENSG00000196109	ENST00000397121	T	0.08984	3.03	0.814	0.814	0.18756	.	.	.	.	.	T	0.04770	0.0129	L	0.42632	1.34	0.09310	N	1	P	0.44734	0.842	B	0.26416	0.069	T	0.38200	-0.9672	9	0.45353	T	0.12	.	3.7226	0.08462	0.0:0.0:0.0:1.0	.	59	Q8N7Q3	ZN676_HUMAN	M	59	ENSP00000380310:I59M	ENSP00000380310:I59M	I	-	3	3	ZNF676	22156182	0.000000	0.05858	0.101000	0.21167	0.101000	0.19017	-0.345000	0.07770	0.158000	0.19367	0.156000	0.16432	ATA		PASS	0.303	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		29	53	29	53	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544209	23544209	+	Silent	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:23544209G>A	ENST00000300619.7	-	4	1777	c.1572C>T	c.(1570-1572)ggC>ggT	p.G524G	ZNF91_ENST00000397082.2_Silent_p.G492G|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	524					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G524G(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAAAAGCTTTGCCACATTCTT	0.333																																						uc002nre.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1570-1572)GGC>GGT		zinc finger protein 91							40.0	42.0	42.0					19																	23544209		2064	4233	6297	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544209G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1572C>T	19.37:g.23544209G>A						ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.G492G	p.G524G	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1685	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	524			C2H2-type 14; degenerate.		A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.1572C>T	CCDS42541.1																																																																																				PASS	0.333	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		47	70	47	70	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42219744	42219744	+	Silent	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:42219744T>C	ENST00000221992.6	+	4	993	c.879T>C	c.(877-879)aaT>aaC	p.N293N	CEACAM5_ENST00000398599.4_Silent_p.N293N|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.N293N	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	293	Ig-like 3.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.N293N(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTGTGAATAATAGTGGATCCT	0.493																																						uc002ork.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(877-879)AAT>AAC		carcinoembryonic antigen-related cell adhesion							124.0	105.0	111.0					19																	42219744		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42219744T>C	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.879T>C	19.37:g.42219744T>C						CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Silent_p.N293N|CEACAM5_uc002orl.2_Silent_p.N293N	p.N293N	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	4	1000	+			293			Ig-like 3.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.879T>C	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	0.020	-1.440290	0.01098	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.12	0.354	0.16063	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4783	0.11755	0.0:0.4503:0.0:0.5497	.	.	.	.	Q	290	.	.	X	+	1	0	CEACAM5	46911584	0.000000	0.05858	0.008000	0.14137	0.090000	0.18270	-1.328000	0.02680	0.254000	0.21573	0.172000	0.16884	TAG		PASS	0.493	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		40	66	40	66	---	---	---	---
CA11	770	broad.mit.edu	37	19	49143088	49143088	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:49143088G>A	ENST00000084798.4	-	5	1203	c.524C>T	c.(523-525)tCc>tTc	p.S175F	SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	175						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.S175F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GGGGCCGCGGGAGGCAGCGCT	0.622																																						uc002pjz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)TCC>TTC		carbonic anhydrase XI precursor							62.0	67.0	65.0					19																	49143088		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49143088G>A	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.524C>T	19.37:g.49143088G>A	ENSP00000084798:p.Ser175Phe					SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	p.S175F	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	5	1086	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	175					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.524C>T	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613209	0.46631	.	.	ENSG00000063180	ENST00000084798	T	0.72835	-0.69	3.73	3.73	0.42828	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.218993	0.38605	N	0.001622	T	0.58595	0.2133	L	0.34521	1.04	0.41383	D	0.987566	B	0.16802	0.019	B	0.18263	0.021	T	0.59925	-0.7362	10	0.51188	T	0.08	.	11.2216	0.48857	0.0:0.0:1.0:0.0	.	175	O75493	CAH11_HUMAN	F	175	ENSP00000084798:S175F	ENSP00000084798:S175F	S	-	2	0	CA11	53834900	1.000000	0.71417	0.431000	0.26735	0.454000	0.32378	6.275000	0.72594	2.104000	0.64026	0.462000	0.41574	TCC		PASS	0.622	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		49	110	49	110	---	---	---	---
ZNF761	388561	broad.mit.edu	37	19	53959049	53959049	+	RNA	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:53959049A>T	ENST00000454407.1	+	0	1741							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K376*(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AATACATCGGAAAATTCATAC	0.393																																						uc010eqp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1288-1290)AAA>TAA		zinc finger protein 761							92.0	99.0	97.0					19																	53959049		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959049A>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959049A>T						ZNF761_uc010ydy.1_Nonsense_Mutation_p.K376*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.K376*	p.K430*	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1746	+			430			C2H2-type 8.		Q6ZNB9	Nonsense_Mutation	SNP	ENST00000454407.1	37	c.1288A>T																																																																																					PASS	0.393	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		22	167	22	167	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56443409	56443409	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:56443409T>C	ENST00000342929.3	-	1	268	c.269A>G	c.(268-270)cAg>cGg	p.Q90R	NLRP13_ENST00000588751.1_Missense_Mutation_p.Q90R	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	90	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.Q90R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTCATTGTCTGGAAGATGCC	0.507																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(268-270)CAG>CGG		NACHT, leucine rich repeat and PYD containing							64.0	58.0	60.0					19																	56443409		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56443409T>C	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.269A>G	19.37:g.56443409T>C	ENSP00000343891:p.Gln90Arg						p.Q90R	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	1	294	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	90			DAPIN.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.269A>G	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	9.579	1.123184	0.20959	.	.	ENSG00000173572	ENST00000342929	T	0.46451	0.87	1.97	0.943	0.19531	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.21631	0.0521	N	0.12182	0.205	0.09310	N	1	B	0.31485	0.325	B	0.34418	0.182	T	0.20174	-1.0283	9	0.29301	T	0.29	.	3.6641	0.08249	0.0:0.1994:0.0:0.8006	.	90	Q86W25	NAL13_HUMAN	R	90	ENSP00000343891:Q90R	ENSP00000343891:Q90R	Q	-	2	0	NLRP13	61135221	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.422000	0.34826	0.233000	0.21120	-0.326000	0.08463	CAG		PASS	0.507	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		11	139	11	139	---	---	---	---
ZNF460	10794	broad.mit.edu	37	19	57802555	57802555	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:57802555A>G	ENST00000360338.3	+	3	968	c.646A>G	c.(646-648)Atc>Gtc	p.I216V	ZNF460_ENST00000537645.1_Missense_Mutation_p.I175V	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I216V(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGCATCACATCATCCATAC	0.527																																						uc002qog.2																			1	Substitution - Missense(1)		lung(1)		0						c.(646-648)ATC>GTC		zinc finger protein 460							75.0	70.0	72.0					19																	57802555		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802555A>G	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.646A>G	19.37:g.57802555A>G	ENSP00000353491:p.Ile216Val					ZNF460_uc010ygv.1_Missense_Mutation_p.I175V	p.I216V	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	968	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	216			C2H2-type 1.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.646A>G	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	A	9.748	1.166672	0.21621	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.18338	2.22;2.22	1.68	0.557	0.17260	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08802	0.0218	N	0.13043	0.29	0.09310	N	1	B	0.21606	0.058	B	0.23275	0.045	T	0.32666	-0.9898	9	0.54805	T	0.06	.	3.2765	0.06901	0.5983:0.2457:0.156:0.0	.	216	Q14592	ZN460_HUMAN	V	175;216	ENSP00000446167:I175V;ENSP00000353491:I216V	ENSP00000353491:I216V	I	+	1	0	ZNF460	62494367	0.000000	0.05858	0.059000	0.19551	0.976000	0.68499	-1.622000	0.02042	0.091000	0.17302	0.528000	0.53228	ATC		PASS	0.527	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		45	110	45	110	---	---	---	---
ZNF543	125919	broad.mit.edu	37	19	57839516	57839516	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr19:57839516G>T	ENST00000321545.4	+	4	1031	c.686G>T	c.(685-687)tGc>tTc	p.C229F		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C229F(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCCTATGAATGCACAGAGTGT	0.448																																						uc002qoi.1																			1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(685-687)TGC>TTC		zinc finger protein 543							81.0	81.0	81.0					19																	57839516		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839516G>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.686G>T	19.37:g.57839516G>T	ENSP00000322545:p.Cys229Phe						p.C229F	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1031	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	229			C2H2-type 2.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.686G>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475858	0.63737	.	.	ENSG00000178229	ENST00000321545	D	0.85088	-1.94	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93416	0.7900	M	0.93462	3.42	0.40968	D	0.984674	D	0.89917	1.0	D	0.97110	1.0	D	0.94693	0.7876	9	0.87932	D	0	.	12.4132	0.55480	0.0:0.0:1.0:0.0	.	229	Q08ER8	ZN543_HUMAN	F	229	ENSP00000322545:C229F	ENSP00000322545:C229F	C	+	2	0	ZNF543	62531328	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	7.004000	0.76317	1.609000	0.50190	0.561000	0.74099	TGC		PASS	0.448	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		48	89	48	89	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5904465	5904465	+	Missense_Mutation	SNP	G	G	A	rs368972632		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr20:5904465G>A	ENST00000378961.4	+	4	1879	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	559						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.E559K(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GACCTTGAACGAGAAGAATTT	0.468																																						uc002wmg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(1675-1677)GAG>AAG		chromogranin B precursor		G	LYS/GLU	0,4406		0,0,2203	68.0	66.0	66.0		1675	5.8	1.0	20		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHGB	NM_001819.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	559/678	5904465	1,13005	2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904465G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1675G>A	20.37:g.5904465G>A	ENSP00000368244:p.Glu559Lys					CHGB_uc010zqz.1_Missense_Mutation_p.E242K	p.E559K	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1981	+			559					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1675G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610723	0.87258	0.0	1.16E-4	ENSG00000089199	ENST00000378961	T	0.01981	4.52	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000002	T	0.11153	0.0272	M	0.72894	2.215	0.38378	D	0.945063	D	0.89917	1.0	D	0.75020	0.985	T	0.00119	-1.2031	10	0.87932	D	0	-26.0199	13.2575	0.60087	0.0723:0.0:0.9277:0.0	.	559	P05060	SCG1_HUMAN	K	559	ENSP00000368244:E559K	ENSP00000368244:E559K	E	+	1	0	CHGB	5852465	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	2.998000	0.49465	2.728000	0.93425	0.561000	0.74099	GAG		PASS	0.468	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		28	71	28	71	---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	13074196	13074196	+	Silent	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr20:13074196T>C	ENST00000399002.2	+	6	1072	c.798T>C	c.(796-798)ggT>ggC	p.G266G	SPTLC3_ENST00000378194.4_Silent_p.G266G	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	266					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.G266G(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GACTCTCAGGTGCAACCATAA	0.418																																						uc002wod.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)GGT>GGC		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						96.0	99.0	98.0					20																	13074196		2087	4258	6345	SO:0001819	synonymous_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13074196T>C	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.798T>C	20.37:g.13074196T>C							p.G266G	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			6	1087	+			266					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	c.798T>C	CCDS13115.2																																																																																				PASS	0.418	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		30	107	30	107	---	---	---	---
SEMG1	6406	broad.mit.edu	37	20	43836328	43836328	+	Silent	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr20:43836328T>C	ENST00000372781.3	+	2	447	c.390T>C	c.(388-390)caT>caC	p.H130H	SEMG1_ENST00000244069.6_Silent_p.H130H	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	130	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.H130H(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTATACACCATAAAGGAGGCA	0.413																																						uc002xni.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(388-390)CAT>CAC		semenogelin I preproprotein							99.0	87.0	91.0					20																	43836328		2203	4300	6503	SO:0001819	synonymous_variant	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836328T>C		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.390T>C	20.37:g.43836328T>C						SEMG1_uc002xnj.2_Silent_p.H130H|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.H130H	p.H130H	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	447	+		Myeloproliferative disorder(115;0.0122)	130					Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.390T>C	CCDS13345.1																																																																																				PASS	0.413	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		31	89	31	89	---	---	---	---
MC3R	4159	broad.mit.edu	37	20	54824588	54824588	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr20:54824588T>C	ENST00000243911.2	+	1	801	c.689T>C	c.(688-690)gTg>gCg	p.V230A		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	230					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.V267A(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GCCGACGGGGTGGCCCCACAG	0.607																																						uc002xxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(688-690)GTG>GCG		melanocortin 3 receptor							208.0	134.0	159.0					20																	54824588		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824588T>C		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.689T>C	20.37:g.54824588T>C	ENSP00000243911:p.Val230Ala						p.V230A	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	801	+			267			Cytoplasmic (Potential).		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.689T>C	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	T	4.008	-0.001100	0.07819	.	.	ENSG00000124089	ENST00000243911	T	0.71222	-0.55	4.91	-9.81	0.00487	GPCR, rhodopsin-like superfamily (1);	0.794529	0.10797	N	0.633089	T	0.33206	0.0855	N	0.00980	-1.08	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.48864	-0.8997	10	0.02654	T	1	.	19.332	0.94295	0.0:0.2072:0.0:0.7928	.	267	P41968	MC3R_HUMAN	A	230	ENSP00000243911:V230A	ENSP00000243911:V230A	V	+	2	0	MC3R	54257995	0.000000	0.05858	0.001000	0.08648	0.327000	0.28475	-1.614000	0.02057	-2.279000	0.00676	-1.161000	0.01788	GTG		PASS	0.607	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			21	83	21	83	---	---	---	---
PCK1	5105	broad.mit.edu	37	20	56138687	56138687	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr20:56138687G>T	ENST00000319441.4	+	6	1029	c.865G>T	c.(865-867)Ggg>Tgg	p.G289W	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.G157W	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	289					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.G289W(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGCGCCTGCGGGAAGACCAA	0.547																																						uc002xyn.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(865-867)GGG>TGG		cytosolic phosphoenolpyruvate carboxykinase 1							84.0	82.0	83.0					20																	56138687		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138687G>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.865G>T	20.37:g.56138687G>T	ENSP00000319814:p.Gly289Trp					PCK1_uc010zzm.1_Intron	p.G289W	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		6	1028	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		289			GTP.		A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.865G>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891986	0.91889	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.37915	1.17;1.17	5.27	5.27	0.74061	Phosphoenolpyruvate carboxykinase, C-terminal (1);Phosphoenolpyruvate carboxykinase, GTP-utilising, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86597	0.1864	10	0.87932	D	0	-43.2663	18.8895	0.92392	0.0:0.0:1.0:0.0	.	289	P35558	PCKGC_HUMAN	W	289;157	ENSP00000319814:G289W;ENSP00000444342:G157W	ENSP00000319814:G289W	G	+	1	0	PCK1	55572093	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	9.338000	0.96553	2.478000	0.83669	0.561000	0.74099	GGG		PASS	0.547	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			54	101	54	101	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19744574	19744574	+	Silent	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr21:19744574A>T	ENST00000284885.3	-	6	633	c.600T>A	c.(598-600)gcT>gcA	p.A200A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	200	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.A200A(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAAATAAATCAGCTTTTATAC	0.378																																						uc002ykw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(598-600)GCT>GCA		enterokinase precursor							120.0	106.0	111.0					21																	19744574		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19744574A>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.600T>A	21.37:g.19744574A>T							p.A200A	NM_002772	NP_002763	P98073	ENTK_HUMAN			6	631	-			200			Extracellular (Potential).|LDL-receptor class A 1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.600T>A	CCDS13571.1																																																																																				PASS	0.378	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		42	80	42	80	---	---	---	---
SON	6651	broad.mit.edu	37	21	34925604	34925604	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr21:34925604C>T	ENST00000356577.4	+	3	4542	c.4067C>T	c.(4066-4068)gCt>gTt	p.A1356V	SON_ENST00000300278.4_Missense_Mutation_p.A1356V|SON_ENST00000290239.6_Missense_Mutation_p.A1356V|SON_ENST00000381679.4_Missense_Mutation_p.A1356V|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1356					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A1356V(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGTCTTCAGCTATGGCTGTC	0.552																																						uc002yse.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(4066-4068)GCT>GTT		SON DNA-binding protein isoform F							46.0	41.0	43.0					21																	34925604		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34925604C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4067C>T	21.37:g.34925604C>T	ENSP00000348984:p.Ala1356Val					SON_uc002ysb.1_Missense_Mutation_p.A1356V|SON_uc002ysc.2_Missense_Mutation_p.A1356V|SON_uc002ysd.2_Missense_Mutation_p.A347V|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.A347V	p.A1356V	NM_138927	NP_620305	P18583	SON_HUMAN			3	4116	+			1356					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.4067C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741493	0.49151	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.12672	2.86;2.85;2.85;2.66	5.0	2.0	0.26442	.	0.798511	0.11191	N	0.589907	T	0.06600	0.0169	N	0.12471	0.22	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.001;0.001	B;B;B;B;B	0.12837	0.005;0.002;0.008;0.003;0.005	T	0.38478	-0.9659	10	0.27785	T	0.31	.	3.5725	0.07922	0.1751:0.5473:0.0:0.2776	.	1356;1356;1037;1356;1356	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	V	1356	ENSP00000348984:A1356V;ENSP00000290239:A1356V;ENSP00000300278:A1356V;ENSP00000371095:A1356V	ENSP00000290239:A1356V	A	+	2	0	SON	33847474	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.301000	0.08232	0.801000	0.34066	0.609000	0.83330	GCT		PASS	0.552	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		17	28	17	28	---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25275485	25275485	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr22:25275485T>A	ENST00000400359.4	+	15	1659	c.1652T>A	c.(1651-1653)tTc>tAc	p.F551Y	SGSM1_ENST00000400358.4_Missense_Mutation_p.F496Y	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	551						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.F496Y(1)|p.F551Y(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCAGAGCCTTCTATGGATGT	0.488																																						uc003abg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(1651-1653)TTC>TAC		RUN and TBC1 domain containing 2 isoform 1							74.0	70.0	71.0					22																	25275485		1889	4122	6011	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25275485T>A	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1652T>A	22.37:g.25275485T>A	ENSP00000383212:p.Phe551Tyr					SGSM1_uc003abh.2_Missense_Mutation_p.F551Y|SGSM1_uc010guu.1_Missense_Mutation_p.F496Y|SGSM1_uc003abj.2_Missense_Mutation_p.F496Y|SGSM1_uc003abi.1_Missense_Mutation_p.F471Y	p.F551Y	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			15	1809	+			551					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.1652T>A	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	T	34	5.301730	0.95601	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.27720	1.65;1.76	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.71581	2.175	0.80722	D	1	D;D;D;P	0.76494	0.996;0.984;0.999;0.872	D;P;D;P	0.72982	0.979;0.801;0.96;0.512	T	0.58595	-0.7609	10	0.87932	D	0	-11.8753	15.3837	0.74681	0.0:0.0:0.0:1.0	.	496;612;629;551	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	Y	612;496;551	ENSP00000383211:F496Y;ENSP00000383212:F551Y	ENSP00000383211:F496Y	F	+	2	0	SGSM1	23605485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.539000	0.82063	2.367000	0.80283	0.528000	0.53228	TTC		PASS	0.488	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		14	39	14	39	---	---	---	---
HSCB	150274	broad.mit.edu	37	22	29138228	29138228	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr22:29138228G>C	ENST00000216027.3	+	1	210	c.145G>C	c.(145-147)Ggc>Cgc	p.G49R	CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382578.1_5'Flank|CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000382580.2_5'Flank|HSCB_ENST00000398941.2_Missense_Mutation_p.G49R|CHEK2_ENST00000405598.1_5'Flank|CHEK2_ENST00000348295.3_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	49					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G49R(1)		kidney(1)|lung(2)|skin(1)	4						CGGCCCATGGGGCCCCGGGCG	0.647																																						uc003aea.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(145-147)GGC>CGC		J-type co-chaperone HSC20 precursor							23.0	23.0	23.0					22																	29138228		2201	4299	6500	SO:0001583	missense	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29138228G>C	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.145G>C	22.37:g.29138228G>C	ENSP00000216027:p.Gly49Arg					CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank	p.G49R	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN			1	186	+			49					Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	c.145G>C	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546567	0.27652	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.42900	1.57;0.96	5.4	2.21	0.28008	Heat shock protein DnaJ, N-terminal (1);	0.617034	0.16703	N	0.203056	T	0.28333	0.0700	L	0.44542	1.39	0.09310	N	1	P	0.35493	0.505	B	0.26517	0.07	T	0.10428	-1.0630	10	0.45353	T	0.12	-2.0943	7.3457	0.26662	0.2663:0.0:0.7337:0.0	.	49	Q8IWL3	HSC20_HUMAN	R	49	ENSP00000216027:G49R;ENSP00000381914:G49R	ENSP00000216027:G49R	G	+	1	0	HSCB	27468228	0.778000	0.28640	0.001000	0.08648	0.015000	0.08874	1.511000	0.35801	0.419000	0.25927	-0.291000	0.09656	GGC		PASS	0.647	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		43	62	43	62	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46655253	46655253	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr22:46655253G>A	ENST00000253255.5	-	1	3966	c.3967C>T	c.(3967-3969)Cac>Tac	p.H1323Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1323	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.H1323Y(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGCCAAATGTGCCTGCTAAAC	0.453																																						uc003bhh.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(3967-3969)CAC>TAC		receptor for egg jelly-like protein precursor							118.0	109.0	112.0					22																	46655253		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655253G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3967C>T	22.37:g.46655253G>A	ENSP00000253255:p.His1323Tyr						p.H1323Y	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3967	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1323			Cytoplasmic (Potential).|PLAT.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3967C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612211	0.46631	.	.	ENSG00000130943	ENST00000253255	T	0.64260	-0.09	5.09	1.27	0.21489	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	1.211110	0.05765	N	0.605651	T	0.54464	0.1860	L	0.47716	1.5	0.09310	N	1	B	0.25904	0.137	B	0.21546	0.035	T	0.46359	-0.9197	10	0.59425	D	0.04	-3.3339	6.7965	0.23729	0.0991:0.0:0.5368:0.3641	.	1323	Q9NTG1	PKDRE_HUMAN	Y	1323	ENSP00000253255:H1323Y	ENSP00000253255:H1323Y	H	-	1	0	PKDREJ	45033917	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	-0.033000	0.12246	0.176000	0.19873	0.511000	0.50034	CAC		PASS	0.453	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		61	135	61	135	---	---	---	---
AKAP17A	8227	broad.mit.edu	37	X	1714314	1714314	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:1714314C>T	ENST00000313871.3	+	3	996	c.800C>T	c.(799-801)tCa>tTa	p.S267L	AKAP17A_ENST00000381261.3_Missense_Mutation_p.S267L	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	267					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.S267L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGTGATGCCTCAATTAAGAAG	0.517																																						uc004cqa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)TCA>TTA		DNA segment on chromosome X and Y (unique) 155							251.0	268.0	262.0					X																	1714314		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1714314C>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.800C>T	X.37:g.1714314C>T	ENSP00000324827:p.Ser267Leu					SFRS17A_uc010ncx.1_Missense_Mutation_p.S267L|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	p.S267L	NM_005088	NP_005079	Q02040	AK17A_HUMAN			3	996	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	267					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.800C>T	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	c	16.25	3.070066	0.55539	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.43294	0.95;0.95	2.43	2.43	0.29744	Nucleotide-binding, alpha-beta plait (1);	0.085465	0.48286	U	0.000186	T	0.51719	0.1691	.	.	.	0.09310	N	1	P;P	0.47962	0.879;0.903	P;P	0.55055	0.577;0.767	T	0.45338	-0.9268	9	0.45353	T	0.12	.	13.3073	0.60359	0.0:1.0:0.0:0.0	.	267;267	Q02040-3;Q02040	.;AK17A_HUMAN	L	267	ENSP00000324827:S267L;ENSP00000370660:S267L	ENSP00000324827:S267L	S	+	2	0	AKAP17A	1674314	0.961000	0.32948	0.004000	0.12327	0.215000	0.24574	4.958000	0.63660	1.046000	0.40249	0.100000	0.15512	TCA		PASS	0.517	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		84	219	84	219	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17745563	17745563	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:17745563C>T	ENST00000380060.3	+	6	3612	c.3274C>T	c.(3274-3276)Cat>Tat	p.H1092Y	NHS_ENST00000398097.3_Missense_Mutation_p.H936Y	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1113					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.H1092Y(1)|p.H936Y(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGTTTTTACTCATAATAAGCA	0.423																																						uc004cxx.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(3274-3276)CAT>TAT		Nance-Horan syndrome protein isoform 1							168.0	158.0	161.0					X																	17745563		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745563C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3274C>T	X.37:g.17745563C>T	ENSP00000369400:p.His1092Tyr					NHS_uc011mix.1_Missense_Mutation_p.H1113Y|NHS_uc004cxy.2_Missense_Mutation_p.H936Y|NHS_uc004cxz.2_Missense_Mutation_p.H915Y|NHS_uc004cya.2_Missense_Mutation_p.H815Y	p.H1092Y	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	3612	+	Hepatocellular(33;0.183)		1092					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3274C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927764	0.52759	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49139	0.79;0.8	5.94	5.08	0.68730	.	0.367791	0.34025	N	0.004331	T	0.48960	0.1529	L	0.59436	1.845	0.21020	N	0.999807	P;P;P;P	0.52316	0.898;0.898;0.898;0.952	B;B;B;P	0.47075	0.434;0.434;0.434;0.536	T	0.49390	-0.8945	10	0.59425	D	0.04	-10.9353	9.7834	0.40662	0.1397:0.7867:0.0:0.0737	.	1113;934;936;1092	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	Y	1092;936;934	ENSP00000369400:H1092Y;ENSP00000381170:H936Y	ENSP00000369397:H934Y	H	+	1	0	NHS	17655484	1.000000	0.71417	0.987000	0.45799	0.873000	0.50193	2.758000	0.47565	1.266000	0.44231	0.544000	0.68410	CAT		PASS	0.423	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		106	255	106	255	---	---	---	---
CDKL5	6792	broad.mit.edu	37	X	18671607	18671608	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:18671607_18671608GG>TT	ENST00000379989.3	+	22	3321_3322	c.3036_3037GG>TT	c.(3034-3039)caGGta>caTTta	p.1012_1013QV>HL	RS1_ENST00000476595.1_5'Flank|CDKL5_ENST00000379996.3_Missense_Mutation_p.1012_1013QV>HL|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1012					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.Q1012_V1013>HL(1)|p.Q1012H(1)|p.V1013L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACAGGGCCCAGGTAAACCAAGC	0.564																																						uc004cym.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(3034-3036)CAG>CAT|c.(3037-3039)GTA>TTA		cyclin-dependent kinase-like 5																																				SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18671607G>T|g.chrX:18671608G>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	Exception_encountered	X.37:g.18671607_18671608delinsTT	ENSP00000369325:p.Q1012_V1013delinsHL					CDKL5_uc004cyn.2_Missense_Mutation_p.Q1012H|RS1_uc004cyo.2_Intron|CDKL5_uc004cyn.2_Missense_Mutation_p.V1013L|RS1_uc004cyo.2_Intron	p.Q1012H|p.V1013L	NM_003159	NP_003150	O76039	CDKL5_HUMAN			21	3289|3290	+	Hepatocellular(33;0.183)		1012|1013					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.3036G>T|c.3037G>T	CCDS14186.1																																																																																				PASS	0.564	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		12	61|62	12	61	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29938132	29938132	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:29938132A>C	ENST00000378993.1	+	8	1651	c.978A>C	c.(976-978)gaA>gaC	p.E326D	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E326D	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	326	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.E326D(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGTGGAAGAAGGTGACTTGG	0.408																																						uc004dby.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(976-978)GAA>GAC		interleukin 1 receptor accessory protein-like 1							197.0	165.0	176.0					X																	29938132		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938132A>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.978A>C	X.37:g.29938132A>C	ENSP00000368278:p.Glu326Asp						p.E326D	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			8	1486	+			326			Extracellular (Potential).|Ig-like C2-type 3.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.978A>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267328	0.40095	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.14516	2.5;2.5	5.91	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.13927	0.0337	L	0.49350	1.555	0.44042	D	0.99677	B	0.17852	0.024	B	0.24974	0.057	T	0.06320	-1.0833	9	.	.	.	.	9.8437	0.41015	0.8559:0.0:0.1441:0.0	.	326	Q9NZN1	IRPL1_HUMAN	D	326	ENSP00000368278:E326D;ENSP00000305200:E326D	.	E	+	3	2	IL1RAPL1	29848053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.623000	0.46435	0.861000	0.35504	0.425000	0.28330	GAA		PASS	0.408	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		78	171	78	171	---	---	---	---
JADE3	9767	broad.mit.edu	37	X	46893157	46893157	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:46893157G>T	ENST00000218343.4	+	7	1120	c.822G>T	c.(820-822)tgG>tgT	p.W274C	PHF16_ENST00000397189.1_Missense_Mutation_p.W274C	NM_014735.3	NP_055550.1												p.W274C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGACTAAATGGGCTCATGTCA	0.542																																						uc004dgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)TGG>TGT		PHD finger protein 16							89.0	67.0	74.0					X																	46893157		2201	4298	6499	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46893157G>T																												ENST00000218343.4:c.822G>T	X.37:g.46893157G>T	ENSP00000218343:p.Trp274Cys					PHF16_uc004dgy.2_Missense_Mutation_p.W274C	p.W274C	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			7	873	+			274						Missense_Mutation	SNP	ENST00000218343.4	37	c.822G>T	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.311741	0.81358	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.23348	1.91;1.91	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81335	-0.0979	10	0.87932	D	0	.	18.5015	0.90882	0.0:0.0:1.0:0.0	.	274	Q92613	JADE3_HUMAN	C	274	ENSP00000380373:W274C;ENSP00000218343:W274C	ENSP00000218343:W274C	W	+	3	0	PHF16	46778101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.757000	0.98924	2.310000	0.77875	0.591000	0.81541	TGG		PASS	0.542	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			7	15	7	15	---	---	---	---
PPP1R3F	89801	broad.mit.edu	37	X	49142924	49142924	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:49142924A>C	ENST00000055335.6	+	4	1788	c.1772A>C	c.(1771-1773)gAa>gCa	p.E591A	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E245A|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E245A|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E245A|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E262A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	591					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.E591A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCCAGCCCAGAAGGGGACAGC	0.637																																						uc004dnh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1771-1773)GAA>GCA		protein phosphatase 1, regulatory (inhibitor)							30.0	26.0	28.0					X																	49142924		2202	4299	6501	SO:0001583	missense	89801					integral to membrane		g.chrX:49142924A>C		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1772A>C	X.37:g.49142924A>C	ENSP00000055335:p.Glu591Ala					PPP1R3F_uc011mnd.1_Missense_Mutation_p.E262A|PPP1R3F_uc004dni.2_Missense_Mutation_p.E245A|PPP1R3F_uc004dnj.1_Missense_Mutation_p.E245A	p.E591A	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			4	1788	+	Ovarian(276;0.236)		591			Extracellular (Potential).		A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.1772A>C	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	a	15.14	2.746447	0.49257	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.67698	0.17;0.17;-0.28;0.17;0.17	5.55	4.35	0.52113	.	0.000000	0.56097	D	0.000022	T	0.70281	0.3206	L	0.32530	0.975	0.31266	N	0.692306	D;D;P	0.76494	0.999;0.999;0.888	D;D;B	0.83275	0.996;0.996;0.378	T	0.71560	-0.4556	10	0.87932	D	0	-5.8127	7.586	0.27993	0.901:0.0:0.099:0.0	.	262;276;591	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	A	245;262;591;245;245	ENSP00000420687:E245A;ENSP00000415548:E262A;ENSP00000055335:E591A;ENSP00000417535:E245A;ENSP00000365359:E245A	ENSP00000055335:E591A	E	+	2	0	PPP1R3F	49029868	1.000000	0.71417	0.985000	0.45067	0.823000	0.46562	1.772000	0.38552	0.704000	0.31869	0.414000	0.27820	GAA		PASS	0.637	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		20	47	20	47	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53573708	53573708	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:53573708A>T	ENST00000342160.3	-	68	11172	c.10715T>A	c.(10714-10716)gTg>gAg	p.V3572E	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.V3572E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3572					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.V3572E(1)|p.V3462E(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						GCCAGAGGACACCATCTTAAA	0.493																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(10714-10716)GTG>GAG		HECT, UBA and WWE domain containing 1							80.0	64.0	69.0					X																	53573708		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53573708A>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10715T>A	X.37:g.53573708A>T	ENSP00000340648:p.Val3572Glu					HUWE1_uc004dsn.2_Missense_Mutation_p.V2380E|HUWE1_uc004dsq.1_5'Flank	p.V3572E	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			69	11117	-			3572					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10715T>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261926	0.39995	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.35605	1.3;1.3	5.68	4.31	0.51392	.	1.328380	0.05025	N	0.473489	T	0.21022	0.0506	N	0.14661	0.345	0.39167	D	0.962525	B;B	0.21905	0.037;0.062	B;B	0.27076	0.035;0.076	T	0.41197	-0.9522	10	0.02654	T	1	.	5.5389	0.17028	0.7348:0.0:0.2652:0.0	.	3572;3556	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	E	3572	ENSP00000340648:V3572E;ENSP00000262854:V3572E	ENSP00000262854:V3572E	V	-	2	0	HUWE1	53590433	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	3.642000	0.54367	1.917000	0.55516	0.437000	0.28790	GTG		PASS	0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		10	48	10	48	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53596671	53596671	+	Silent	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:53596671C>A	ENST00000342160.3	-	47	6886	c.6429G>T	c.(6427-6429)ggG>ggT	p.G2143G	HUWE1_ENST00000262854.6_Silent_p.G2143G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2143					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.G2143G(1)|p.G2006G(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						CTGTGCCACTCCCTGCAGCAG	0.572																																						uc004dsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(6427-6429)GGG>GGT		HECT, UBA and WWE domain containing 1							108.0	96.0	100.0					X																	53596671		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:53596671C>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.6429G>T	X.37:g.53596671C>A						HUWE1_uc004dsn.2_Silent_p.G967G	p.G2143G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			48	6831	-			2143					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.6429G>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274876	0.23307	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.25	0.99	0.19807	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.901	0.03267	0.1177:0.3698:0.2545:0.258	.	.	.	.	X	1177	.	.	E	-	1	0	HUWE1	53613396	0.967000	0.33354	1.000000	0.80357	0.987000	0.75469	0.024000	0.13555	0.081000	0.16988	0.513000	0.50165	GAG		PASS	0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		34	139	34	139	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54321216	54321216	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:54321216A>G	ENST00000375159.2	-	7	1462	c.1463T>C	c.(1462-1464)gTg>gCg	p.V488A	WNK3_ENST00000375169.3_Missense_Mutation_p.V488A|WNK3_ENST00000354646.2_Missense_Mutation_p.V488A			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	488					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V488A(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TATTGGCGTCACCCGGTCTCT	0.438																																						uc004dtd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(1462-1464)GTG>GCG		WNK lysine deficient protein kinase 3 isoform 2							71.0	65.0	67.0					X																	54321216		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54321216A>G	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1463T>C	X.37:g.54321216A>G	ENSP00000364301:p.Val488Ala					WNK3_uc004dtc.1_Missense_Mutation_p.V488A	p.V488A	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			8	1902	-			488					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1463T>C	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277182	0.80580	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.75938	-0.95;-0.98;-0.98	4.89	4.89	0.63831	.	0.000000	0.46758	D	0.000264	T	0.79528	0.4461	L	0.36672	1.1	0.42006	D	0.99091	D;D	0.76494	0.999;0.997	D;D	0.77004	0.989;0.975	T	0.81335	-0.0979	10	0.62326	D	0.03	-6.7572	12.5807	0.56390	1.0:0.0:0.0:0.0	.	488;488	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	A	488	ENSP00000364312:V488A;ENSP00000346667:V488A;ENSP00000364301:V488A	ENSP00000346667:V488A	V	-	2	0	WNK3	54337941	1.000000	0.71417	0.989000	0.46669	0.881000	0.50899	9.128000	0.94424	1.606000	0.50161	0.481000	0.45027	GTG		PASS	0.438	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		25	86	25	86	---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62885773	62885773	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:62885773C>A	ENST00000253401.6	-	7	1849	c.1049G>T	c.(1048-1050)tGc>tTc	p.C350F	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.C248F|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.C348F|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.C329F|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.C297F|ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000433323.2_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	350	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C350F(1)|p.C348F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TACCTTCTTGCAGAGGACCAT	0.587																																						uc004dvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(1048-1050)TGC>TTC		Cdc42 guanine exchange factor 9							93.0	73.0	80.0					X																	62885773		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62885773C>A	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1049G>T	X.37:g.62885773C>A	ENSP00000253401:p.Cys350Phe					ARHGEF9_uc004dvj.1_Missense_Mutation_p.C239F|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc011mos.1_Missense_Mutation_p.C329F|ARHGEF9_uc004dvm.1_Missense_Mutation_p.C329F|ARHGEF9_uc011mot.1_Missense_Mutation_p.C297F|ARHGEF9_uc004dvn.2_Missense_Mutation_p.C357F	p.C350F	NM_015185	NP_056000	O43307	ARHG9_HUMAN			7	1888	-			350			PH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1049G>T	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078531	0.76528	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	4.98	4.98	0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91859	0.5498	10	0.87932	D	0	.	15.8926	0.79312	0.0:1.0:0.0:0.0	.	297;348;350	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	F	350;348;297;248;329	ENSP00000253401:C350F;ENSP00000364012:C348F;ENSP00000399994:C297F;ENSP00000364004:C248F;ENSP00000364006:C329F	ENSP00000253401:C350F	C	-	2	0	ARHGEF9	62802498	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.251000	0.78297	2.049000	0.60858	0.600000	0.82982	TGC		PASS	0.587	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			11	38	11	38	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65408293	65408293	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:65408293C>A	ENST00000343002.2	+	4	1382	c.718C>A	c.(718-720)Cat>Aat	p.H240N	HEPH_ENST00000419594.1_Missense_Mutation_p.H243N|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000519389.1_Missense_Mutation_p.H294N|HEPH_ENST00000441993.2_Missense_Mutation_p.H243N|HEPH_ENST00000374727.3_Missense_Mutation_p.H243N			Q9BQS7	HEPH_HUMAN	hephaestin	240	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.H240N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTCAGCTGGCATCTCAATGA	0.502																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(727-729)CAT>AAT		hephaestin isoform a							131.0	94.0	106.0					X																	65408293		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65408293C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.718C>A	X.37:g.65408293C>A	ENSP00000343939:p.His240Asn					HEPH_uc004dwn.2_Missense_Mutation_p.H243N|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Missense_Mutation_p.H243N|HEPH_uc011mpa.1_Missense_Mutation_p.H243N	p.H243N	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			5	787	+			240			Extracellular (Potential).|Plastocyanin-like 2.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.727C>A		.	.	.	.	.	.	.	.	.	.	C	14.92	2.678404	0.47886	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99735	-6.58;-6.58;-6.58;-6.58;-6.58;-6.58	4.78	3.9	0.45041	Cupredoxin (2);	0.130576	0.53938	D	0.000057	D	0.98679	0.9557	L	0.54323	1.7	0.36281	D	0.855758	P;P;P	0.47191	0.825;0.851;0.891	B;B;B	0.43018	0.296;0.3;0.405	D	0.99821	1.1047	10	0.62326	D	0.03	.	6.8859	0.24199	0.0:0.7138:0.0:0.2862	.	294;243;240	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	N	294;243;243;243;240;240	ENSP00000430620:H294N;ENSP00000363859:H243N;ENSP00000411687:H243N;ENSP00000413211:H243N;ENSP00000343939:H240N;ENSP00000398078:H240N	ENSP00000343939:H240N	H	+	1	0	HEPH	65325018	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	2.580000	0.46068	1.944000	0.56390	0.594000	0.82650	CAT		PASS	0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		12	28	12	28	---	---	---	---
FOXO4	4303	broad.mit.edu	37	X	70321032	70321032	+	Silent	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:70321032C>T	ENST00000374259.3	+	2	1284	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	FOXO4_ENST00000341558.3_Silent_p.L263L	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	318					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.L318L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TTCCCATTCCCTGCTATCTCG	0.552											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dys.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|prostate(1)	3						c.(952-954)CTG>TTG		forkhead box O4							42.0	45.0	44.0					X																	70321032		2091	4182	6273	SO:0001819	synonymous_variant	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:70321032C>T		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.952C>T	X.37:g.70321032C>T			OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.L263L	p.L318L	NM_005938	NP_005929	P98177	FOXO4_HUMAN			2	1305	+	Renal(35;0.156)		318					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	ENST00000374259.3	37	c.952C>T	CCDS43969.1																																																																																				PASS	0.552	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		9	143	9	143	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70328447	70328447	+	Splice_Site	SNP	A	A	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:70328447A>C	ENST00000374202.2	-	6	946		c.e6+1		IL2RG_ENST00000374188.3_Intron|IL2RG_ENST00000456850.2_Splice_Site|CXorf65_ENST00000374251.5_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma						immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)	p.?(2)		breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TCCAAATCTCACCGTTCCAGC	0.463									Severe Combined Immunodeficiency, X-linked																													uc004dyw.1																			2	Unknown(2)		lung(2)	pancreas(1)	1	GRCh37	CS011541	IL2RG	S		c.e6+1		interleukin 2 receptor, gamma precursor	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						43.0	35.0	38.0					X																	70328447		2200	4287	6487	SO:0001630	splice_region_variant	3561	Severe_Combined_Immunodeficiency_X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70328447A>C	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.854+1T>G	X.37:g.70328447A>C						CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Intron|IL2RG_uc004dyx.1_Splice_Site_p.R95_splice	p.R285_splice	NM_000206	NP_000197	P31785	IL2RG_HUMAN			6	868	-	Renal(35;0.156)							Q5FC12	Splice_Site	SNP	ENST00000374202.2	37	c.854_splice	CCDS14406.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560368	0.65538	.	.	ENSG00000147168	ENST00000374202;ENST00000456850	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.621	0.39721	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL2RG	70245172	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.902000	0.56310	1.793000	0.52555	0.486000	0.48141	.		PASS	0.463	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2		Intron	6	13	6	13	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70351922	70351923	+	Splice_Site	DNP	GG	GG	TT			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:70351922_70351923GG>TT	ENST00000374080.3	+	30	4151_4152	c.4119_4120GG>TT	c.(4117-4122)aaGGag>aaTTag	p.1373_1374KE>N*	MED12_ENST00000333646.6_Splice_Site_p.1373_1374KE>N*|MED12_ENST00000374102.1_Splice_Site_p.1373_1374KE>N*			Q93074	MED12_HUMAN	mediator complex subunit 12	1373					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.?(4)|p.E1374*(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATCCTCCCCAGGAGATGAACTC	0.495			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2				Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					6	Unknown(4)|Substitution - Nonsense(2)		lung(6)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.e30-1|c.(4120-4122)GAG>TAG		mediator complex subunit 12																																				SO:0001630	splice_region_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70351922G>T|g.chrX:70351923G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	Exception_encountered	X.37:g.70351922_70351923delinsTT						MED12_uc011mpq.1_Splice_Site_p.E1374_splice|MED12_uc004dyz.2_Splice_Site_p.E1374_splice|MED12_uc004dza.2_Splice_Site_p.E1221_splice|MED12_uc010nla.2_Intron|MED12_uc011mpq.1_Nonsense_Mutation_p.E1374*|MED12_uc004dyz.2_Nonsense_Mutation_p.E1374*|MED12_uc004dza.2_Nonsense_Mutation_p.E1221*|MED12_uc010nla.2_Intron	p.E1374_splice|p.E1374*	NM_005120	NP_005111	Q93074	MED12_HUMAN			30	4319	+	Renal(35;0.156)		|1374					O15410|O75557|Q9UHV6|Q9UND7	Splice_Site|Nonsense_Mutation	SNP	ENST00000374080.3	37	c.4120_splice|c.4120G>T	CCDS43970.1																																																																																				PASS	0.495	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	Nonsense_Mutation	32|31	112|110	31	110	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79978075	79978075	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:79978075C>A	ENST00000373275.4	-	17	2078	c.1862G>T	c.(1861-1863)gGa>gTa	p.G621V	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	621					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.G621V(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGCCACATATCCCAGCTGTGG	0.383																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1861-1863)GGA>GTA		bromodomain and WD repeat domain containing 3							121.0	101.0	108.0					X																	79978075		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79978075C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1862G>T	X.37:g.79978075C>A	ENSP00000362372:p.Gly621Val					BRWD3_uc010nmi.1_5'Flank|BRWD3_uc004edo.2_Missense_Mutation_p.G217V|BRWD3_uc004edp.2_Missense_Mutation_p.G450V|BRWD3_uc004edq.2_Missense_Mutation_p.G217V|BRWD3_uc010nmj.1_Missense_Mutation_p.G217V|BRWD3_uc004edr.2_Missense_Mutation_p.G291V|BRWD3_uc004eds.2_Missense_Mutation_p.G217V|BRWD3_uc004edu.2_Missense_Mutation_p.G291V|BRWD3_uc004edv.2_Missense_Mutation_p.G217V|BRWD3_uc004edw.2_Missense_Mutation_p.G217V|BRWD3_uc004edx.2_Missense_Mutation_p.G217V|BRWD3_uc004edy.2_Missense_Mutation_p.G217V|BRWD3_uc004edz.2_Missense_Mutation_p.G291V|BRWD3_uc004eea.2_Missense_Mutation_p.G291V|BRWD3_uc004eeb.2_Missense_Mutation_p.G217V	p.G621V	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			17	2125	-			621					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1862G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879748	0.72294	.	.	ENSG00000165288	ENST00000373275	T	0.60920	0.15	4.7	4.7	0.59300	.	0.128189	0.52532	D	0.000077	T	0.69958	0.3169	M	0.72353	2.195	0.80722	D	1	D	0.56035	0.974	P	0.55615	0.78	T	0.72093	-0.4394	9	.	.	.	-15.0227	17.0991	0.86644	0.0:1.0:0.0:0.0	.	621	Q6RI45	BRWD3_HUMAN	V	621	ENSP00000362372:G621V	.	G	-	2	0	BRWD3	79864731	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.320000	0.79064	2.304000	0.77564	0.544000	0.68410	GGA		PASS	0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		51	169	51	169	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79999534	79999534	+	Silent	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:79999534T>A	ENST00000373275.4	-	8	1026	c.810A>T	c.(808-810)atA>atT	p.I270I		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	270					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.I270I(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCTTACCTGTATGGAAGTAA	0.378																																						uc004edt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(808-810)ATA>ATT		bromodomain and WD repeat domain containing 3							78.0	70.0	73.0					X																	79999534		2203	4299	6502	SO:0001819	synonymous_variant	254065							g.chrX:79999534T>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.810A>T	X.37:g.79999534T>A						BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Silent_p.I99I|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.I270I	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	1073	-			270			WD 4.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.810A>T	CCDS14447.1																																																																																				PASS	0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		50	157	50	157	---	---	---	---
CPXCR1	53336	broad.mit.edu	37	X	88008902	88008902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:88008902C>T	ENST00000276127.4	+	3	746	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.Q163*	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	163							metal ion binding (GO:0046872)	p.Q163*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATATTTCTCTCAGGCTGCAGG	0.388																																						uc004efd.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(487-489)CAG>TAG		CPX chromosome region, candidate 1							56.0	47.0	50.0					X																	88008902		2203	4300	6503	SO:0001587	stop_gained	53336					intracellular	zinc ion binding	g.chrX:88008902C>T	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.487C>T	X.37:g.88008902C>T	ENSP00000276127:p.Gln163*					CPXCR1_uc004efc.3_Nonsense_Mutation_p.Q163*	p.Q163*	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	746	+			163					B2R9F9|D3DTE7|Q96RS3	Nonsense_Mutation	SNP	ENST00000276127.4	37	c.487C>T	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129666	0.56721	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	.	.	.	2.92	1.08	0.20341	.	0.240961	0.21634	N	0.071437	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2996	3.6612	0.08240	0.0:0.5886:0.2555:0.1558	.	.	.	.	X	163	.	.	Q	+	1	0	CPXCR1	87895558	0.009000	0.17119	0.004000	0.12327	0.008000	0.06430	0.113000	0.15499	0.162000	0.19483	0.594000	0.82650	CAG		PASS	0.388	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		32	119	32	119	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91131779	91131779	+	Splice_Site	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:91131779G>T	ENST00000373094.1	+	2	1385		c.e2-1		PCDH11X_ENST00000504220.2_Splice_Site|PCDH11X_ENST00000406881.1_Splice_Site|PCDH11X_ENST00000361724.1_Splice_Site|PCDH11X_ENST00000373097.1_Splice_Site|PCDH11X_ENST00000361655.2_Splice_Site|PCDH11X_ENST00000373088.1_Splice_Site|PCDH11X_ENST00000395337.2_Splice_Site|PCDH11X_ENST00000298274.8_Splice_Site	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGTTTTCCAGAGTCAAAACA	0.279																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Unknown(3)		lung(3)	large_intestine(2)	2						c.e2-1		protocadherin 11 X-linked isoform c							32.0	29.0	30.0					X																	91131779		2191	4271	6462	SO:0001630	splice_region_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131779G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.541-1G>T	X.37:g.91131779G>T						PCDH11X_uc004efl.1_Splice_Site_p.S181_splice|PCDH11X_uc004efo.1_Splice_Site_p.S181_splice|PCDH11X_uc010nmv.1_Splice_Site_p.S181_splice|PCDH11X_uc004efm.1_Splice_Site_p.S181_splice|PCDH11X_uc004efn.1_Splice_Site_p.S181_splice|PCDH11X_uc004efh.1_Splice_Site_p.S181_splice|PCDH11X_uc004efj.1_Splice_Site_p.S181_splice	p.S181_splice	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	1386	+								A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Splice_Site	SNP	ENST00000373094.1	37	c.541_splice	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	7.768	0.706926	0.15239	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.97	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0177	0.42024	0.1733:0.0:0.8267:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCDH11X	91018435	1.000000	0.71417	0.984000	0.44739	0.197000	0.23852	7.311000	0.78958	0.877000	0.35895	-0.268000	0.10319	.		PASS	0.279	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	Intron	27	104	27	104	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100912250	100912250	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:100912250T>A	ENST00000328766.5	-	5	778	c.325A>T	c.(325-327)Agt>Tgt	p.S109C	ARMCX2_ENST00000356824.4_Missense_Mutation_p.S109C|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.S109C	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	109	Ala-rich.					integral component of membrane (GO:0016021)		p.S109C(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCTGCCCCACTCTGAGCCTCA	0.627																																						uc004eid.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(325-327)AGT>TGT		ALEX2 protein							43.0	43.0	43.0					X																	100912250		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100912250T>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.325A>T	X.37:g.100912250T>A	ENSP00000331662:p.Ser109Cys					ARMCX2_uc004eie.3_Missense_Mutation_p.S109C|ARMCX2_uc004eif.3_Missense_Mutation_p.S109C|ARMCX2_uc004eig.3_Missense_Mutation_p.S109C|ARMCX2_uc010nnt.2_Missense_Mutation_p.S109C	p.S109C	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	680	-			109			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.325A>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	T	8.831	0.940021	0.18281	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824;ENST00000413506;ENST00000433318	T;T;T;T;T	0.48836	1.4;1.4;1.4;0.8;0.8	4.47	3.3	0.37823	.	0.437153	0.17396	N	0.175746	T	0.29620	0.0739	L	0.36672	1.1	0.18873	N	0.999987	P	0.47034	0.889	B	0.33846	0.171	T	0.23476	-1.0187	10	0.66056	D	0.02	-1.0082	5.7445	0.18112	0.0:0.229:0.0:0.771	.	109	Q7L311	ARMX2_HUMAN	C	109	ENSP00000331662:S109C;ENSP00000328631:S109C;ENSP00000349281:S109C;ENSP00000412481:S109C;ENSP00000410151:S109C	ENSP00000331662:S109C	S	-	1	0	ARMCX2	100798906	0.847000	0.29606	0.183000	0.23137	0.070000	0.16714	1.192000	0.32150	0.645000	0.30675	0.441000	0.28932	AGT		PASS	0.627	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		96	99	96	99	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107869498	107869498	+	Silent	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:107869498C>T	ENST00000361603.2	+	36	3409	c.3165C>T	c.(3163-3165)tcC>tcT	p.S1055S	COL4A5_ENST00000328300.6_Silent_p.S1055S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1055	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.S1055S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AACCTGGCTCCCCAGGATTAC	0.458									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3163-3165)TCC>TCT		type IV collagen alpha 5 isoform 2 precursor							94.0	85.0	88.0					X																	107869498		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107869498C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3165C>T	X.37:g.107869498C>T						COL4A5_uc011mso.1_Silent_p.S1055S|COL4A5_uc004eob.1_Silent_p.S663S	p.S1055S	NM_033380	NP_203699	P29400	CO4A5_HUMAN			36	3367	+			1055			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.3165C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	9.616	1.132529	0.21041	.	.	ENSG00000188153	ENST00000505728	.	.	.	5.76	2.23	0.28157	.	.	.	.	.	T	0.42607	0.1210	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.25502	-1.0130	4	.	.	.	.	1.0975	0.01676	0.1352:0.3131:0.2592:0.2925	.	.	.	.	L	133	.	.	P	+	2	0	COL4A5	107756154	0.006000	0.16342	0.998000	0.56505	0.964000	0.63967	-0.187000	0.09656	0.272000	0.22027	0.600000	0.82982	CCC		PASS	0.458	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			36	232	36	232	---	---	---	---
AMMECR1	9949	broad.mit.edu	37	X	109444273	109444273	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:109444273C>T	ENST00000262844.5	-	5	963	c.796G>A	c.(796-798)Gac>Aac	p.D266N	AMMECR1_ENST00000372059.2_Missense_Mutation_p.D229N|AMMECR1_ENST00000372057.1_Missense_Mutation_p.D143N	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	266	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.							p.D266N(1)		large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						TGTATATGGTCCCATCCTGTA	0.378																																						uc004eoo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)GAC>AAC		AMMECR1 protein isoform 1							182.0	157.0	165.0					X																	109444273		2203	4300	6503	SO:0001583	missense	9949							g.chrX:109444273C>T	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.796G>A	X.37:g.109444273C>T	ENSP00000262844:p.Asp266Asn					AMMECR1_uc004eop.2_Missense_Mutation_p.D229N|AMMECR1_uc004eoq.2_Missense_Mutation_p.D143N	p.D266N	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN			5	877	-			266			AMMECR1.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	c.796G>A	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216788	0.79352	.	.	ENSG00000101935	ENST00000262844;ENST00000372059;ENST00000372057	.	.	.	5.9	5.9	0.94986	AMMECR1 domain (2);	0.149199	0.64402	D	0.000014	T	0.54319	0.1851	L	0.39467	1.215	0.80722	D	1	P;B	0.40302	0.712;0.379	B;B	0.40329	0.279;0.326	T	0.51772	-0.8663	9	0.35671	T	0.21	-5.8675	19.2299	0.93834	0.0:1.0:0.0:0.0	.	229;266	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	N	266;229;143	.	ENSP00000262844:D266N	D	-	1	0	AMMECR1	109330929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.485000	0.81204	2.493000	0.84123	0.600000	0.82982	GAC		PASS	0.378	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			81	258	81	258	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694824	109694824	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:109694824G>C	ENST00000465301.2	+	3	1225	c.979G>C	c.(979-981)Gtc>Ctc	p.V327L	RGAG1_ENST00000540313.1_Missense_Mutation_p.V327L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	327								p.V327L(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						GCTACTGTCAGTCCCAGATGC	0.498																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(979-981)GTC>CTC		retrotransposon gag domain containing 1							257.0	237.0	244.0					X																	109694824		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694824G>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.979G>C	X.37:g.109694824G>C	ENSP00000419786:p.Val327Leu					RGAG1_uc011msr.1_Missense_Mutation_p.V327L	p.V327L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1225	+			327					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.979G>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345319	0.41498	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.46451	0.87;0.87	4.42	0.527	0.17084	.	0.795618	0.10277	N	0.694027	T	0.24353	0.0590	L	0.27053	0.805	0.09310	N	1	B	0.28850	0.225	B	0.26517	0.07	T	0.20472	-1.0274	9	.	.	.	0.1131	4.0591	0.09831	0.3156:0.3358:0.3486:0.0	.	327	Q8NET4	RGAG1_HUMAN	L	327	ENSP00000419786:V327L;ENSP00000441452:V327L	.	V	+	1	0	RGAG1	109581480	0.000000	0.05858	0.000000	0.03702	0.803000	0.45373	0.320000	0.19540	-0.036000	0.13669	0.600000	0.82982	GTC		PASS	0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		206	630	206	630	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	111002983	111002983	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:111002983C>A	ENST00000394780.3	+	27	3182	c.3170C>A	c.(3169-3171)tCt>tAt	p.S1057Y	ALG13_ENST00000251943.4_Missense_Mutation_p.S874Y|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1057					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.S379Y(1)|p.S874Y(1)|p.S1057Y(1)		endometrium(2)|lung(10)|skin(1)	13						AATGCTGATTCTTCATCTGTC	0.423																																						uc011msy.1																			3	Substitution - Missense(3)		lung(3)	lung(1)	1						c.(3169-3171)TCT>TAT		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							84.0	60.0	67.0					X																	111002983		1568	3581	5149	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:111002983C>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3170C>A	X.37:g.111002983C>A	ENSP00000378260:p.Ser1057Tyr					ALG13_uc011msx.1_Missense_Mutation_p.S874Y|ALG13_uc011msz.1_Missense_Mutation_p.S979Y|ALG13_uc011mta.1_Missense_Mutation_p.S874Y|ALG13_uc011mtb.1_Missense_Mutation_p.S874Y	p.S1057Y			Q9NP73	ALG13_HUMAN			27	3204	+			1057					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.3170C>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	c	11.67	1.707193	0.30232	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.55760	1.49;0.5	5.8	3.86	0.44501	.	0.471462	0.21983	N	0.066275	T	0.36991	0.0987	N	0.22421	0.69	0.09310	N	1	P;P;P	0.39696	0.683;0.681;0.683	B;B;B	0.37198	0.243;0.123;0.161	T	0.19418	-1.0306	10	0.44086	T	0.13	0.3772	11.2261	0.48884	0.1365:0.7875:0.0:0.076	.	979;1057;874	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	Y	874;1057;611	ENSP00000251943:S874Y;ENSP00000378260:S1057Y	ENSP00000251943:S874Y	S	+	2	0	ALG13	110889639	0.331000	0.24713	0.622000	0.29159	0.914000	0.54420	2.282000	0.43461	1.221000	0.43506	0.597000	0.82753	TCT		PASS	0.423	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		11	43	11	43	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111025340	111025340	+	Silent	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:111025340A>G	ENST00000262839.2	-	8	2841	c.1923T>C	c.(1921-1923)ttT>ttC	p.F641F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	641					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.F641F(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						TCGTCCTTGCAAACTTCCACT	0.428																																						uc004epl.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)	1						c.(1921-1923)TTT>TTC		transient receptor potential cation channel,							105.0	94.0	98.0					X																	111025340		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:111025340A>G	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.1923T>C	X.37:g.111025340A>G						TRPC5_uc004epm.1_Silent_p.F641F	p.F641F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			8	2842	-			641			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1923T>C	CCDS14561.1																																																																																				PASS	0.428	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		48	211	48	211	---	---	---	---
LRCH2	57631	broad.mit.edu	37	X	114422790	114422790	+	Splice_Site	SNP	T	T	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:114422790T>A	ENST00000317135.8	-	2	523	c.493A>T	c.(493-495)Agc>Tgc	p.S165C	LRCH2_ENST00000538422.1_Splice_Site_p.S165C|RBMXL3_ENST00000424776.3_5'Flank	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	165								p.S165C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTTCCTTACCTAATGTTAAGG	0.284																																						uc010nqe.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(493-495)AGC>TGC		leucine-rich repeats and calponin homology (CH)							30.0	26.0	28.0					X																	114422790		1785	4039	5824	SO:0001630	splice_region_variant	57631							g.chrX:114422790T>A	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.494+1A>T	X.37:g.114422790T>A						LRCH2_uc004epz.2_Missense_Mutation_p.S165C|RBMXL3_uc011mte.1_5'Flank	p.S165C	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN			2	524	-			165			LRR 4.		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	c.493A>T	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049874	0.75846	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.62498	0.02;0.02	4.85	4.85	0.62838	.	0.047797	0.85682	D	0.000000	T	0.80602	0.4654	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.84044	0.0366	10	0.87932	D	0	-9.217	12.3525	0.55157	0.0:0.0:0.0:1.0	.	165;165	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	C	165	ENSP00000325091:S165C;ENSP00000439366:S165C	ENSP00000325091:S165C	S	-	1	0	LRCH2	114329046	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.417000	0.80156	1.793000	0.52555	0.356000	0.21956	AGC		PASS	0.284	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871	Missense_Mutation	4	22	4	22	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123615730	123615730	+	Silent	SNP	G	G	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:123615730G>T	ENST00000371130.3	-	21	3843	c.3780C>A	c.(3778-3780)gtC>gtA	p.V1260V	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Silent_p.V1267V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1260					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V1262V(1)									TCAACTTGTAGACTTTGCGAG	0.438																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(3778-3780)GTC>GTA		odz, odd Oz/ten-m homolog 1 isoform 3							156.0	133.0	141.0					X																	123615730		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123615730G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3780C>A	X.37:g.123615730G>T						ODZ1_uc011muj.1_Silent_p.V1266V|ODZ1_uc010nqy.2_Silent_p.V1267V	p.V1260V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			21	3844	-			1260			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.3780C>A	CCDS14609.1																																																																																				PASS	0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		152	223	152	223	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128722228	128722228	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:128722228C>A	ENST00000371113.4	+	21	2494	c.2329C>A	c.(2329-2331)Cct>Act	p.P777T	OCRL_ENST00000357121.5_Missense_Mutation_p.P769T	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	777	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.P777T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TACCAGCATTCCTGAGACAAT	0.443																																						uc004euq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(2329-2331)CCT>ACT		phosphatidylinositol polyphosphate 5-phosphatase							82.0	72.0	75.0					X																	128722228		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128722228C>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2329C>A	X.37:g.128722228C>A	ENSP00000360154:p.Pro777Thr					OCRL_uc004eur.2_Missense_Mutation_p.P769T|OCRL_uc010nrb.2_5'Flank	p.P777T	NM_000276	NP_000267	Q01968	OCRL_HUMAN			21	2494	+			777			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.2329C>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429279	0.62844	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.17691	2.26;2.26	5.38	5.38	0.77491	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.163069	0.56097	D	0.000029	T	0.36358	0.0964	M	0.63428	1.95	0.80722	D	1	D;P	0.76494	0.999;0.792	D;P	0.65443	0.935;0.516	T	0.05209	-1.0899	10	0.19590	T	0.45	.	16.637	0.85061	0.0:1.0:0.0:0.0	.	769;777	Q01968-2;Q01968	.;OCRL_HUMAN	T	777;769	ENSP00000360154:P777T;ENSP00000349635:P769T	ENSP00000349635:P769T	P	+	1	0	OCRL	128549909	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.283000	0.78640	2.237000	0.73441	0.600000	0.82982	CCT		PASS	0.443	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		40	143	40	143	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130419191	130419191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:130419191C>T	ENST00000361420.3	-	5	708	c.629G>A	c.(628-630)tGg>tAg	p.W210*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W210*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.W210*|IGSF1_ENST00000370901.4_Nonsense_Mutation_p.W210*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W201*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.W201*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	210	Ig-like C2-type 2.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.W210*(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGCTCTGACCACAGGGTGGG	0.552																																						uc004ewd.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(628-630)TGG>TAG		immunoglobulin superfamily, member 1 isoform 1							121.0	90.0	100.0					X																	130419191		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130419191C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.629G>A	X.37:g.130419191C>T	ENSP00000355010:p.Trp210*					IGSF1_uc004ewe.3_Nonsense_Mutation_p.W199*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W190*|IGSF1_uc004ewg.2_Nonsense_Mutation_p.W210*	p.W210*	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			5	867	-			210			Ig-like C2-type 2.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.629G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921937	0.92319	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903;ENST00000370901;ENST00000370900	.	.	.	4.93	4.93	0.64822	.	0.000000	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4756	0.55811	0.0:1.0:0.0:0.0	.	.	.	.	X	201;210;201;210;210;210	.	ENSP00000355010:W210X	W	-	2	0	IGSF1	130246872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.248000	0.43160	2.437000	0.82529	0.600000	0.82982	TGG		PASS	0.552	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			37	168	37	168	---	---	---	---
SLC9A6	10479	broad.mit.edu	37	X	135067759	135067759	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:135067759C>T	ENST00000370698.3	+	1	133	c.98C>T	c.(97-99)gCa>gTa	p.A33V	SLC9A6_ENST00000370701.1_Intron|SLC9A6_ENST00000370695.4_Missense_Mutation_p.A33V	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	33					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.A33V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGCTCCTCGCAGTGGGCGTC	0.711																																						uc004ezj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)GCA>GTA		solute carrier family 9 (sodium/hydrogen							28.0	31.0	30.0					X																	135067759		2203	4298	6501	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135067759C>T	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.98C>T	X.37:g.135067759C>T	ENSP00000359732:p.Ala33Val					SLC9A6_uc004ezk.2_Missense_Mutation_p.A33V|SLC9A6_uc011mvx.1_Intron	p.A33V	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			1	174	+	Acute lymphoblastic leukemia(192;0.000127)		33			Helical; (Potential).		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.98C>T	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.610393	0.46527	.	.	ENSG00000198689	ENST00000370698;ENST00000370695	T;T	0.55930	0.49;0.52	4.18	3.31	0.37934	.	0.719083	0.13114	N	0.412796	T	0.35856	0.0946	N	0.22421	0.69	0.39476	D	0.967804	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09618	-1.0666	10	0.18710	T	0.47	.	9.8468	0.41032	0.0:0.894:0.0:0.106	.	33;33	Q92581-2;Q92581	.;SL9A6_HUMAN	V	33	ENSP00000359732:A33V;ENSP00000359729:A33V	ENSP00000359729:A33V	A	+	2	0	SLC9A6	134895425	0.075000	0.21258	0.990000	0.47175	0.852000	0.48524	0.236000	0.17967	0.769000	0.33313	0.373000	0.22412	GCA		PASS	0.711	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		20	57	20	57	---	---	---	---
BCAP31	10134	broad.mit.edu	37	X	152986426	152986426	+	Splice_Site	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:152986426A>G	ENST00000345046.6	-	3	501	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	BCAP31_ENST00000441714.1_Splice_Site_p.W32R|BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000458587.2_Splice_Site_p.W99R	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	32					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)		p.W99R(1)|p.W32R(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTCTGCCATCTGTGAAGA	0.473																																						uc011myz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(94-96)TGG>CGG		B-cell receptor-associated protein 31 isoform b							95.0	72.0	80.0					X																	152986426		2203	4300	6503	SO:0001630	splice_region_variant	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding	g.chrX:152986426A>G	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.93-1T>C	X.37:g.152986426A>G						BCAP31_uc011myy.1_5'UTR|BCAP31_uc004fid.2_Missense_Mutation_p.W99R|BCAP31_uc011mza.1_Missense_Mutation_p.W32R|BCAP31_uc004fie.2_Missense_Mutation_p.W32R	p.W32R	NM_001139441	NP_001132913	P51572	BAP31_HUMAN			3	250	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		32			Cytoplasmic (Potential).		B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	ENST00000345046.6	37	c.94T>C	CCDS14727.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141378	0.77775	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.982;0.993	T	0.79401	-0.1819	9	0.33141	T	0.24	-6.1577	13.9199	0.63926	1.0:0.0:0.0:0.0	.	32;99	P51572;B3KQ79	BAP31_HUMAN;.	R	32;32;99;99;32;32;32;32;32	.	ENSP00000343458:W32R	W	-	1	0	BCAP31	152639620	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	7.429000	0.80309	1.932000	0.55993	0.486000	0.48141	TGG		PASS	0.473	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745	Missense_Mutation	36	46	36	46	---	---	---	---
ABCD1	215	broad.mit.edu	37	X	152991559	152991559	+	Missense_Mutation	SNP	C	C	A	rs193922098		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:152991559C>A	ENST00000218104.3	+	1	1237	c.838C>A	c.(838-840)Cgc>Agc	p.R280S	BCAP31_ENST00000441714.1_5'Flank|ABCD1_ENST00000370129.4_Missense_Mutation_p.R95S|BCAP31_ENST00000458587.2_5'Flank|BCAP31_ENST00000345046.6_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	280	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> C (in ALD).		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.R280S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGAGCTGCGCTACATGCA	0.692													C|||	1	0.000264901	0.0	0.0014	3775	,	,		10675	0.0		0.0	False		,,,				2504	0.0					uc004fif.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM021052	ABCD1	M		c.(838-840)CGC>AGC		ATP-binding cassette, sub-family D (ALD), member							12.0	13.0	13.0					X																	152991559		2175	4270	6445	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991559C>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.838C>A	X.37:g.152991559C>A	ENSP00000218104:p.Arg280Ser					BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	p.R280S	NM_000033	NP_000024	P33897	ABCD1_HUMAN			1	1237	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		280		R -> C (in X-ALD).	ABC transmembrane type-1.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.838C>A	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784336	0.70222	.	.	ENSG00000101986	ENST00000218104;ENST00000370129	D;D	0.99907	-7.78;-7.78	5.09	5.09	0.68999	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	H	0.96604	3.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95822	0.8850	10	0.87932	D	0	-28.1949	16.3446	0.83118	0.0:1.0:0.0:0.0	.	280	P33897	ABCD1_HUMAN	S	280;95	ENSP00000218104:R280S;ENSP00000359147:R95S	ENSP00000218104:R280S	R	+	1	0	ABCD1	152644753	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.399000	0.59703	2.111000	0.64477	0.529000	0.55759	CGC		PASS	0.692	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		8	16	8	16	---	---	---	---
ABCD1	215	broad.mit.edu	37	X	153005583	153005583	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:153005583A>G	ENST00000218104.3	+	6	1925	c.1526A>G	c.(1525-1527)aAt>aGt	p.N509S	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	509	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.N509S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGCCCCAATGGCTGCGGC	0.647																																						uc004fif.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM044845	ABCD1	M		c.(1525-1527)AAT>AGT		ATP-binding cassette, sub-family D (ALD), member							108.0	93.0	98.0					X																	153005583		2203	4300	6503	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153005583A>G	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1526A>G	X.37:g.153005583A>G	ENSP00000218104:p.Asn509Ser					ABCD1_uc004fig.2_Missense_Mutation_p.N9S	p.N509S	NM_000033	NP_000024	P33897	ABCD1_HUMAN			6	1925	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		509			ATP (By similarity).|ABC transporter.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.1526A>G	CCDS14728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.83|18.83	3.707435|3.707435	0.68615|0.68615	.|.	.|.	ENSG00000101986|ENSG00000101986	ENST00000443684|ENST00000218104	.|D	.|0.95035	.|-3.59	4.83|4.83	4.83|4.83	0.62350|0.62350	.|ATPase, AAA+ type, core (1);ABC transporter-like (1);	.|0.053478	.|0.64402	.|D	.|0.000001	D|D	0.94755|0.94755	0.8307|0.8307	L|L	0.39085|0.39085	1.19|1.19	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.68353	.|0.957	D|D	0.94834|0.94834	0.7999|0.7999	5|10	.|0.66056	.|D	.|0.02	-17.0961|-17.0961	11.2602|11.2602	0.49078|0.49078	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|509	.|P33897	.|ABCD1_HUMAN	V|S	177|509	.|ENSP00000218104:N509S	.|ENSP00000218104:N509S	M|N	+|+	1|2	0|0	ABCD1|ABCD1	152658777|152658777	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.532000|0.532000	0.34746|0.34746	8.698000|8.698000	0.91311|0.91311	1.785000|1.785000	0.52413|0.52413	0.350000|0.350000	0.21858|0.21858	ATG|AAT		PASS	0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		44	181	44	181	---	---	---	---
NAA10	8260	broad.mit.edu	37	X	153195637	153195637	+	Missense_Mutation	SNP	C	C	T	rs369415038		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:153195637C>T	ENST00000464845.1	-	8	829	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	NAA10_ENST00000370009.1_Missense_Mutation_p.V156M|NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000393710.3_5'Flank	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	171					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)	p.V171M(2)		breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CCCAGCACCACGTGCCTGCCC	0.617																																					Ovarian(94;1099 1433 38814 45882 51063)	uc004fjm.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(511-513)GTG>ATG		alpha-N-acetyltransferase 1A		C	MET/VAL	0,3835		0,0,1632,571	102.0	82.0	88.0		511	-3.0	0.0	X		88	1,6727		0,1,2427,1872	no	missense	NAA10	NM_003491.2	21	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	171/236	153195637	1,10562	2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153195637C>T	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.511G>A	X.37:g.153195637C>T	ENSP00000417763:p.Val171Met					NAA10_uc004fjn.1_Missense_Mutation_p.V156M	p.V171M	NM_003491	NP_003482	P41227	NAA10_HUMAN			8	622	-			171					A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.511G>A	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817059	0.16607	0.0	1.49E-4	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.57273	0.41;0.46	4.41	-2.95	0.05564	.	1.472110	0.04154	N	0.321861	T	0.37652	0.1011	L	0.42245	1.32	0.09310	N	1	B;B	0.28636	0.218;0.058	B;B	0.20955	0.032;0.022	T	0.09885	-1.0654	10	0.35671	T	0.21	-5.6723	2.3386	0.04254	0.124:0.2447:0.134:0.4973	.	156;171	A6NM98;P41227	.;NAA10_HUMAN	M	171;156	ENSP00000417763:V171M;ENSP00000359026:V156M	ENSP00000359026:V156M	V	-	1	0	NAA10	152848831	0.008000	0.16893	0.008000	0.14137	0.831000	0.47069	-0.192000	0.09587	-0.646000	0.05452	-1.190000	0.01697	GTG		PASS	0.617	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		52	215	52	215	---	---	---	---
IRAK1	3654	broad.mit.edu	37	X	153279714	153279714	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chrX:153279714C>T	ENST00000369980.3	-	11	1485	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	IRAK1_ENST00000429936.2_Missense_Mutation_p.E466K|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393682.1_Missense_Mutation_p.E466K|IRAK1_ENST00000369974.2_Intron|IRAK1_ENST00000393687.2_Missense_Mutation_p.E440K	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	440	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.E440K(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCCTCCTCTTCCACCAGG	0.567																																						uc004fjs.1																			2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(1318-1320)GAG>AAG		interleukin-1 receptor-associated kinase 1							72.0	68.0	69.0					X																	153279714		2203	4300	6503	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153279714C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1318G>A	X.37:g.153279714C>T	ENSP00000358997:p.Glu440Lys					IRAK1_uc004fjr.1_Missense_Mutation_p.E440K|IRAK1_uc004fjt.1_Intron|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.E466K	p.E440K	NM_001569	NP_001560	P51617	IRAK1_HUMAN			11	1397	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		440			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1318G>A	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.75|19.75	3.884968|3.884968	0.72410|0.72410	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000393682;ENST00000455690;ENST00000393687;ENST00000429936|ENST00000443220	T;T;T;T|.	0.64618|.	1.39;-0.11;1.39;1.39|.	5.01|5.01	5.01|5.01	0.66863|0.66863	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.123948|.	0.37219|.	N|.	0.002184|.	T|T	0.59032|0.59032	0.2164|0.2164	L|L	0.43923|0.43923	1.385|1.385	0.43080|0.43080	D|D	0.994731|0.994731	D;D|.	0.58268|.	0.982;0.959|.	P;P|.	0.57009|.	0.811;0.713|.	T|T	0.57388|0.57388	-0.7820|-0.7820	10|5	0.62326|.	D|.	0.03|.	-12.334|-12.334	12.7853|12.7853	0.57500|0.57500	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	440;440|.	P51617;P51617-2|.	IRAK1_HUMAN;.|.	K|K	440;466;20;440;466|188	ENSP00000358997:E440K;ENSP00000377287:E466K;ENSP00000377291:E440K;ENSP00000392662:E466K|.	ENSP00000358997:E440K|.	E|R	-|-	1|2	0|0	IRAK1|IRAK1	152932908|152932908	0.991000|0.991000	0.36638|0.36638	0.821000|0.821000	0.32701|0.32701	0.341000|0.341000	0.28922|0.28922	4.330000|4.330000	0.59266|0.59266	2.073000|2.073000	0.62155|0.62155	0.529000|0.529000	0.55759|0.55759	GAG|AGA		PASS	0.567	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			112	151	112	151	---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs142534762|rs3217269|rs199701060|rs201060055	byFrequency	TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.5	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718														1537	0.306909	0.5038	0.2954	5008	,	,		11352	0.0556		0.2624	False		,,,				2504	0.3538					uc001dka.2																			0					0						c.(91-102)CTGGCGCTGCGG>CGG		chitobiase, di-N-acetyl- precursor				865,21,1798		349,2,165,3,13,810						-3.6	0.0		dbSNP_134	4	1279,4,4361		415,1,448,1,1,1956	no	codingComplex	CTBS	NM_004388.2		764,3,613,4,14,2766	A1A1,A1A2,A1R,A2A2,A2R,RR		22.7321,33.0104,26.0447				2144,25,6159				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85039999_85040007delGCAGCGCCA	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.92_100delTGGCGCTGC	1.37:g.85040008_85040016delGCAGCGCCA	ENSP00000359664:p.Leu31_Leu33del					CTBS_uc001dkc.2_5'UTR|CTBS_uc001dkd.2_5'UTR|CTBS_uc001dkb.2_5'UTR	p.LAL31del	NM_004388	NP_004379	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	157_165	-			31_33					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.92_100delTGGCGCTGC	CCDS698.1																																																																																					0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		9	4	9	4	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1626678	1626678	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr8:1626678delC	ENST00000421627.2	+	9	2481	c.2347delC	c.(2347-2349)ccgfs	p.P783fs	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	862					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGGATGTCTCCGTGCCGCAG	0.597																																						uc003wpl.2																			0					0						c.(2347-2349)CCGfs		discs large-associated protein 2							24.0	27.0	26.0					8																	1626678		1936	4150	6086	SO:0001589	frameshift_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626678delC	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2347delC	8.37:g.1626678delC	ENSP00000400258:p.Pro783fs					DLGAP2_uc003wpm.2_Frame_Shift_Del_p.P769fs	p.P783fs	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2444	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	862					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Frame_Shift_Del	DEL	ENST00000421627.2	37	c.2347delC	CCDS47760.1																																																																																					0.597	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		10	7	10	7	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61655401	61655402	+	Frame_Shift_Ins	INS	-	-	T	rs368648424		TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr8:61655401_61655402insT	ENST00000423902.2	+	2	1889_1890	c.1410_1411insT	c.(1411-1413)ttgfs	p.L471fs	CHD7_ENST00000524602.1_Frame_Shift_Ins_p.L471fs|CHD7_ENST00000525508.1_Frame_Shift_Ins_p.L471fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	471	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CACCAAGGGAATTGACTGGGCA	0.55																																						uc003xue.2																			0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1408-1413)GAATTGfs		chromodomain helicase DNA binding protein 7																																				SO:0001589	frameshift_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61655401_61655402insT	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1412dupT	8.37:g.61655403_61655403dupT	ENSP00000392028:p.Leu471fs						p.E470fs	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1887_1888	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	470_471			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Ins	INS	ENST00000423902.2	37	c.1410_1411insT	CCDS47865.1																																																																																					0.550	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		28	14	28	14	---	---	---	---
KHNYN	23351	broad.mit.edu	37	14	24901672	24901674	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-60-2710-01A-01D-1522-08	TCGA-60-2710-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	faecb1fe-b4ef-434d-818c-81ad2167dd25	3f0dd66e-22ec-4bf8-aa0f-17b8134055be	g.chr14:24901672_24901674delGAG	ENST00000251343.5	+	3	1344_1346	c.1205_1207delGAG	c.(1204-1209)cgaggc>cgc	p.G403del	KHNYN_ENST00000556842.1_In_Frame_Del_p.G403del|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_In_Frame_Del_p.G403del|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	403							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CAATGGAAACGAGGCGCCCGAGG	0.655											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wph.3																			0				ovary(2)|liver(1)	3						c.(1204-1209)CGAGGC>CGC		hypothetical protein LOC23351				0,4240		0,0,2120						0.3	0.7			19	1,8207		0,1,4103	no	coding	KHNYN	NM_015299.2		0,1,6223	A1A1,A1R,RR		0.0122,0.0,0.0080				1,12447				SO:0001651	inframe_deletion	23351							g.chr14:24901672_24901674delGAG	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1205_1207delGAG	14.37:g.24901672_24901674delGAG	ENSP00000251343:p.Gly403del		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc010tpc.1_In_Frame_Del_p.G444del|KHNYN_uc010alw.2_In_Frame_Del_p.G403del|CBLN3_uc001wpg.3_5'Flank	p.G403del	NM_015299	NP_056114	O15037	KHNYN_HUMAN			3	1407_1409	+			403					Q86TZ6|Q8IUQ2|Q96BA9	In_Frame_Del	DEL	ENST00000251343.5	37	c.1205_1207delGAG	CCDS32058.1																																																																																					0.655	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			26	12	26	12	---	---	---	---
