#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
CALML6	163688	broad.mit.edu	37	1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597																																						uc001aih.1																			2	Substitution - Missense(2)		prostate(1)|lung(1)		0						c.(343-345)GCA>ACA		calmodulin-like 6							98.0	107.0	104.0					1																	1848280		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848280G>A	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"""EF-hand domain containing"""	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.343G>A	1.37:g.1848280G>A	ENSP00000304643:p.Ala115Thr						p.A115T	NM_138705	NP_619650	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	797	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	115			EF-hand 3.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.343G>A	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.147600	0.37923	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.74002	-0.8;-0.8	2.99	2.06	0.26882	EF-hand-like domain (1);	.	.	.	.	D	0.85035	0.5605	M	0.87038	2.855	0.27022	N	0.964453	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	.	5.8798	0.18848	0.1554:0.0:0.8446:0.0	.	115	Q8TD86	CALL6_HUMAN	T	115;98	ENSP00000304643:A115T;ENSP00000367867:A98T	ENSP00000304643:A115T	A	+	1	0	CALML6	1838140	0.056000	0.20664	0.030000	0.17652	0.359000	0.29487	1.847000	0.39299	0.594000	0.29761	0.313000	0.20887	GCA		PASS	0.597	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		5	174	5	174	---	---	---	---
CFAP74	85452	broad.mit.edu	37	1	1920058	1920058	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:1920058C>G	ENST00000434971.2	-	4	221	c.189G>C	c.(187-189)ttG>ttC	p.L63F				Q69YW0	CA222_HUMAN		0								p.L63F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTTTCTTCTTCAATTTATCAG	0.498																																						uc001aim.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(187-189)TTG>TTC		hypothetical protein LOC85452							112.0	115.0	114.0					1																	1920058		2003	4183	6186	SO:0001583	missense	85452							g.chr1:1920058C>G																												ENST00000434971.2:c.189G>C	1.37:g.1920058C>G	ENSP00000408078:p.Leu63Phe					KIAA1751_uc009vkz.1_Missense_Mutation_p.L63F|KIAA1751_uc001ain.1_Missense_Mutation_p.L63F	p.L63F	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	4	345	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	63						Missense_Mutation	SNP	ENST00000434971.2	37	c.189G>C		.	.	.	.	.	.	.	.	.	.	c	3.587	-0.084370	0.07097	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.50813	0.73;0.74	3.42	1.19	0.21007	.	.	.	.	.	T	0.17746	0.0426	N	0.03608	-0.345	0.09310	N	1	B;B	0.29508	0.246;0.15	B;B	0.24269	0.052;0.025	T	0.18429	-1.0337	9	0.15952	T	0.53	-9.0E-4	3.3955	0.07304	0.2691:0.5624:0.0:0.1685	.	63;63	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	F	63;54;63	ENSP00000367853:L54F;ENSP00000408078:L63F	ENSP00000270720:L63F	L	-	3	2	C1orf222	1909918	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.258000	0.02863	0.145000	0.18977	0.450000	0.29827	TTG		PASS	0.498	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				38	70	38	70	---	---	---	---
ZBTB48	3104	broad.mit.edu	37	1	6642200	6642200	+	Nonsense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:6642200C>G	ENST00000377674.4	+	3	931	c.773C>G	c.(772-774)tCa>tGa	p.S258*		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	258					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S258*(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGGAGGAAGTCAAATGTAATC	0.572																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	uc009vmc.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(772-774)TCA>TGA		zinc finger and BTB domain containing 48							95.0	86.0	89.0					1																	6642200		2203	4300	6503	SO:0001587	stop_gained	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6642200C>G	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.773C>G	1.37:g.6642200C>G	ENSP00000366902:p.Ser258*					ZBTB48_uc001anx.2_Nonsense_Mutation_p.S258*|ZBTB48_uc009vmd.1_Nonsense_Mutation_p.S258*	p.S258*	NM_005341	NP_005332	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	3	896	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	258					Q5SY19	Nonsense_Mutation	SNP	ENST00000377674.4	37	c.773C>G	CCDS84.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402227	0.96030	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	.	.	.	5.67	5.67	0.87782	.	0.568294	0.18628	N	0.135678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-3.7821	14.8269	0.70120	0.0:0.8554:0.1446:0.0	.	.	.	.	X	258	.	ENSP00000313416:S258X	S	+	2	0	ZBTB48	6564787	0.914000	0.31030	0.917000	0.36280	0.935000	0.57460	2.203000	0.42752	2.677000	0.91161	0.561000	0.74099	TCA		PASS	0.572	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		23	36	23	36	---	---	---	---
PGD	5226	broad.mit.edu	37	1	10460560	10460560	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:10460560G>A	ENST00000270776.8	+	3	233	c.195G>A	c.(193-195)ctG>ctA	p.L65L	PGD_ENST00000538557.1_Silent_p.L52L|PGD_ENST00000541529.1_Silent_p.L65L	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	65					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.L65L(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	TCTCCAAGCTGAAGAAGCCCC	0.522																																						uc001arc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(193-195)CTG>CTA		phosphogluconate dehydrogenase							76.0	69.0	71.0					1																	10460560		2203	4300	6503	SO:0001819	synonymous_variant	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10460560G>A	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.195G>A	1.37:g.10460560G>A						PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Silent_p.L65L|PGD_uc010oal.1_Silent_p.L52L	p.L65L	NM_002631	NP_002622	P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	3	285	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	65					A8K2Y9|B4DQJ8|Q9BWD8	Silent	SNP	ENST00000270776.8	37	c.195G>A	CCDS113.1																																																																																				PASS	0.522	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		31	57	31	57	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12024315	12024315	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:12024315C>T	ENST00000196061.4	+	12	1313	c.1286C>T	c.(1285-1287)gCc>gTc	p.A429V	PLOD1_ENST00000376369.3_Missense_Mutation_p.A476V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	429					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.A429V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GGCTACTATGCCCGTTCCGAG	0.632																																						uc001atm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1285-1287)GCC>GTC		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						151.0	150.0	150.0					1																	12024315		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12024315C>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1286C>T	1.37:g.12024315C>T	ENSP00000196061:p.Ala429Val					PLOD1_uc010obb.1_Missense_Mutation_p.A476V	p.A429V	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1377	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	429					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1286C>T	CCDS142.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696388	0.88830	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	T;T	0.66460	-0.21;-0.2	5.36	5.36	0.76844	.	0.052609	0.85682	D	0.000000	T	0.71995	0.3406	M	0.74546	2.27	0.80722	D	1	B;P	0.49783	0.129;0.928	B;P	0.45071	0.029;0.468	T	0.77874	-0.2425	10	0.87932	D	0	.	17.6594	0.88188	0.0:1.0:0.0:0.0	.	476;429	B4DR87;Q02809	.;PLOD1_HUMAN	V	476;429	ENSP00000365548:A476V;ENSP00000196061:A429V	ENSP00000196061:A429V	A	+	2	0	PLOD1	11946902	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.713000	0.84693	2.506000	0.84524	0.655000	0.94253	GCC		PASS	0.632	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		5	259	5	259	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16902856	16902856	+	Silent	SNP	C	C	A	rs200172966		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:16902856C>A	ENST00000430580.2	-	19	2912	c.2025G>T	c.(2023-2025)ccG>ccT	p.P675P	NBPF1_ENST00000287968.8_Silent_p.P40P|NBPF1_ENST00000432949.1_Silent_p.P133P|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	675						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGGCTCATCCGGAGTGAGGA	0.572																																						uc009vos.1																			0					0						c.(2023-2025)CCG>CCT		hypothetical protein LOC55672							365.0	405.0	391.0					1																	16902856		1511	2709	4220	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16902856C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2025G>T	1.37:g.16902856C>A						NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.P133P|NBPF1_uc010oce.1_Silent_p.P404P	p.P675P	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2913	-			675					Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2025G>T																																																																																					PASS	0.572	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		103	550	103	550	---	---	---	---
CDA	978	broad.mit.edu	37	1	20931448	20931448	+	Missense_Mutation	SNP	C	C	A	rs377459586	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:20931448C>A	ENST00000375071.3	+	2	364	c.182C>A	c.(181-183)cCg>cAg	p.P61Q	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	61	CMP/dCMP deaminase zinc-binding.				cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.P61Q(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GCCTGCTACCCGCTGGGCATC	0.522																																					Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)CCG>CAG		cytidine deaminase	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						95.0	83.0	87.0					1																	20931448		2203	4300	6503	SO:0001583	missense	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20931448C>A	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.182C>A	1.37:g.20931448C>A	ENSP00000364212:p.Pro61Gln					CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_Intron	p.P61Q	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	2	361	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	61						Missense_Mutation	SNP	ENST00000375071.3	37	c.182C>A	CCDS210.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682355	0.68042	.	.	ENSG00000158825	ENST00000375071	T	0.46451	0.87	5.75	5.75	0.90469	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.434906	0.26265	N	0.025362	T	0.67739	0.2925	H	0.94183	3.505	0.37439	D	0.91435	D	0.55605	0.972	P	0.53518	0.728	T	0.79640	-0.1719	10	0.56958	D	0.05	.	15.4422	0.75195	0.0:1.0:0.0:0.0	.	61	P32320	CDD_HUMAN	Q	61	ENSP00000364212:P61Q	ENSP00000364212:P61Q	P	+	2	0	CDA	20804035	0.968000	0.33430	0.908000	0.35775	0.700000	0.40528	3.040000	0.49799	2.714000	0.92807	0.561000	0.74099	CCG		PASS	0.522	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785		18	26	18	26	---	---	---	---
TRIM63	84676	broad.mit.edu	37	1	26387757	26387757	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:26387757C>G	ENST00000374272.3	-	3	539	c.401G>C	c.(400-402)tGt>tCt	p.C134S	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	134	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C134S(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACACGTGAGACAGTAGATGTT	0.562																																						uc001bli.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(400-402)TGT>TCT		muscle specific ring finger protein 1							156.0	117.0	130.0					1																	26387757		2203	4300	6503	SO:0001583	missense	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26387757C>G	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.401G>C	1.37:g.26387757C>G	ENSP00000363390:p.Cys134Ser						p.C134S	NM_032588	NP_115977	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	3	537	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	134			Interaction with TTN.|B box-type.		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.401G>C	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997460	0.93227	.	.	ENSG00000158022	ENST00000374272	D	0.99080	-5.4	5.12	5.12	0.69794	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	H	0.98559	4.265	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97479	1.0046	10	0.87932	D	0	.	18.5261	0.90973	0.0:1.0:0.0:0.0	.	134	Q969Q1	TRI63_HUMAN	S	134	ENSP00000363390:C134S	ENSP00000363390:C134S	C	-	2	0	TRIM63	26260344	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.776000	0.85560	2.542000	0.85734	0.591000	0.81541	TGT		PASS	0.562	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		28	51	28	51	---	---	---	---
KIAA0319L	79932	broad.mit.edu	37	1	35915495	35915495	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:35915495C>T	ENST00000325722.3	-	15	2560	c.2326G>A	c.(2326-2328)Gac>Aac	p.D776N	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.D213N	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	776	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D776N(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGGTCCGGTCTGTGTCACTC	0.483																																						uc001byx.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(2326-2328)GAC>AAC		dyslexia susceptibility 2-like							160.0	119.0	133.0					1																	35915495		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35915495C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2326G>A	1.37:g.35915495C>T	ENSP00000318406:p.Asp776Asn					KIAA0319L_uc001byw.2_Missense_Mutation_p.D218N|KIAA0319L_uc010ohv.1_Missense_Mutation_p.D418N	p.D776N	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			15	2584	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	776			PKD 5.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.2326G>A	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810884	0.90707	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.69040	2.54;-0.37;2.54	5.82	5.82	0.92795	PKD/Chitinase domain (1);PKD/REJ-like protein (1);PKD domain (2);	0.125722	0.64402	D	0.000001	T	0.79191	0.4404	M	0.71206	2.165	0.80722	D	1	P;P;P	0.50819	0.873;0.939;0.675	P;P;B	0.56278	0.599;0.795;0.311	T	0.80301	-0.1440	10	0.72032	D	0.01	-15.9428	19.0872	0.93209	0.0:1.0:0.0:0.0	.	776;776;218	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	N	776;213;776	ENSP00000318406:D776N;ENSP00000362363:D213N;ENSP00000395883:D776N	ENSP00000318406:D776N	D	-	1	0	KIAA0319L	35688082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.744000	0.62118	2.752000	0.94435	0.655000	0.94253	GAC		PASS	0.483	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		32	61	32	61	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55608723	55608723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:55608723C>A	ENST00000294383.6	-	22	2508	c.2509G>T	c.(2509-2511)Gaa>Taa	p.E837*	USP24_ENST00000407756.1_Nonsense_Mutation_p.E677*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	837					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.E754*(1)|p.E837*(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTAGCAATTTCTTCATCAGGT	0.284																																						uc001cyg.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(2029-2031)GAA>TAA		ubiquitin specific protease 24							49.0	44.0	46.0					1																	55608723		1772	3998	5770	SO:0001587	stop_gained	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55608723C>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2509G>T	1.37:g.55608723C>A	ENSP00000294383:p.Glu837*						p.E677*	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			19	2029	-			837					Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	ENST00000294383.6	37	c.2029G>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	36	5.735098	0.96865	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	6.03	4.18	0.49190	.	0.092244	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.7407	0.57251	0.0:0.8684:0.0:0.1316	.	.	.	.	X	837;677	.	ENSP00000294383:E837X	E	-	1	0	USP24	55381311	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	7.487000	0.81328	0.896000	0.36366	-0.140000	0.14226	GAA		PASS	0.284	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			5	4	5	4	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70446077	70446077	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:70446077C>A	ENST00000035383.5	+	7	643	c.613C>A	c.(613-615)Caa>Aaa	p.Q205K	LRRC7_ENST00000310961.5_Missense_Mutation_p.Q210K|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	205						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.Q205K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTTCTGGATCAAATACAAAA	0.328																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(613-615)CAA>AAA		leucine rich repeat containing 7							162.0	167.0	165.0					1																	70446077		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70446077C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.613C>A	1.37:g.70446077C>A	ENSP00000035383:p.Gln205Lys					LRRC7_uc009wbg.2_5'UTR	p.Q205K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			7	643	+			205			LRR 8.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.613C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679363	0.68042	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.23950	1.88;1.9	5.25	5.25	0.73442	.	0.059688	0.64402	D	0.000002	T	0.11153	0.0272	N	0.13168	0.305	0.80722	D	1	P	0.40197	0.706	B	0.43623	0.425	T	0.11299	-1.0593	10	0.25751	T	0.34	.	16.3726	0.83370	0.0:1.0:0.0:0.0	.	205	Q96NW7	LRRC7_HUMAN	K	210;205;28	ENSP00000309245:Q210K;ENSP00000035383:Q205K	ENSP00000035383:Q205K	Q	+	1	0	LRRC7	70218665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.238000	0.78173	2.608000	0.88229	0.650000	0.86243	CAA		PASS	0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		77	157	77	157	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114354943	114354943	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:114354943C>G	ENST00000261441.5	-	1	155	c.92G>C	c.(91-93)cGa>cCa	p.R31P	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	31						nucleus (GO:0005634)		p.R31P(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCGCGCATCGCGCAAGCGC	0.672																																						uc001edq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(91-93)CGA>CCA		round spermatid basic protein 1							21.0	29.0	26.0					1																	114354943		2195	4294	6489	SO:0001583	missense	54665					nucleus		g.chr1:114354943C>G	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.92G>C	1.37:g.114354943C>G	ENSP00000261441:p.Arg31Pro					RSBN1_uc001edr.2_RNA	p.R31P	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	128	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	31					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.92G>C	CCDS862.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429244	0.43122	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.77	3.8	0.43715	.	0.000000	0.40144	N	0.001173	T	0.09158	0.0226	N	0.08118	0	0.25052	N	0.99112	B	0.06786	0.001	B	0.06405	0.002	T	0.13469	-1.0508	9	0.87932	D	0	-0.965	7.3141	0.26491	0.0:0.7417:0.1696:0.0887	.	31	Q5VWQ0	RSBN1_HUMAN	P	31	.	ENSP00000261441:R31P	R	-	2	0	RSBN1	114156466	0.977000	0.34250	0.664000	0.29753	0.039000	0.13416	2.538000	0.45710	1.453000	0.47775	-0.136000	0.14681	CGA		PASS	0.672	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		37	36	37	36	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117158825	117158825	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:117158825C>A	ENST00000369486.3	-	3	1063	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	IGSF3_ENST00000318837.6_Missense_Mutation_p.G100W|IGSF3_ENST00000369483.1_Missense_Mutation_p.G100W	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	100	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G100W(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GTTGAGTTCCCCTGGACTCTT	0.542																																						uc001egr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(298-300)GGG>TGG		immunoglobulin superfamily, member 3 isoform 2							36.0	34.0	35.0					1																	117158825		2203	4296	6499	SO:0001583	missense	3321					integral to membrane		g.chr1:117158825C>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.298G>T	1.37:g.117158825C>A	ENSP00000358498:p.Gly100Trp					IGSF3_uc001egq.1_Missense_Mutation_p.G100W	p.G100W	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	1003	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	100			Ig-like C2-type 1.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.298G>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670631	0.67814	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.66460	-0.21;-0.21;-0.21	4.63	4.63	0.57726	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.246939	0.41396	D	0.000882	T	0.81221	0.4777	M	0.87038	2.855	0.47994	D	0.999568	D;D	0.69078	0.992;0.997	D;D	0.83275	0.973;0.996	D	0.84365	0.0540	10	0.87932	D	0	-30.9694	15.3612	0.74475	0.0:1.0:0.0:0.0	.	100;100	O75054;A6NJZ6	IGSF3_HUMAN;.	W	100	ENSP00000358498:G100W;ENSP00000358495:G100W;ENSP00000321184:G100W	ENSP00000321184:G100W	G	-	1	0	IGSF3	116960348	0.976000	0.34144	0.965000	0.40720	0.993000	0.82548	2.283000	0.43470	2.566000	0.86566	0.555000	0.69702	GGG		PASS	0.542	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		17	33	17	33	---	---	---	---
OR10K1	391109	broad.mit.edu	37	1	158436285	158436285	+	Missense_Mutation	SNP	C	C	A	rs553006126	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:158436285C>A	ENST00000289451.2	+	1	1014	c.934C>A	c.(934-936)Ctt>Att	p.L312I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L312I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTTCTATCCTCTTAGTTAAag	0.363																																						uc010pij.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(934-936)CTT>ATT		olfactory receptor, family 10, subfamily K,							65.0	65.0	65.0					1																	158436285		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436285C>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.934C>A	1.37:g.158436285C>A	ENSP00000289451:p.Leu312Ile						p.L312I	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	934	+	all_hematologic(112;0.0378)		312			Cytoplasmic (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.934C>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	2.684	-0.274702	0.05679	.	.	ENSG00000173285	ENST00000289451	T	0.00551	6.65	4.24	-3.5	0.04710	.	1.460060	0.04869	N	0.445635	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25293	-1.0136	10	0.30078	T	0.28	.	3.0286	0.06099	0.1696:0.4579:0.1535:0.219	.	312	Q8NGX5	O10K1_HUMAN	I	312	ENSP00000289451:L312I	ENSP00000289451:L312I	L	+	1	0	OR10K1	156702909	0.257000	0.24022	0.002000	0.10522	0.006000	0.05464	0.878000	0.28126	-0.539000	0.06273	-0.357000	0.07601	CTT		PASS	0.363	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			19	36	19	36	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158636282	158636283	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:158636282_158636283GG>TT	ENST00000368147.4	-	16	2223_2224	c.2043_2044CC>AA	c.(2041-2046)acCCag>acAAag	p.Q682K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	682					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q682K(2)|p.T681T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATGCAACTGGGTCCCTGGGA	0.426																																						uc001fst.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2044-2046)CAG>AAG|c.(2041-2043)ACC>ACA		spectrin, alpha, erythrocytic 1																																				SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158636282G>T|g.chr1:158636283G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2043_2044delinsTT	1.37:g.158636282_158636283delinsTT	ENSP00000357129:p.Gln682Lys						p.Q682K|p.T681T	NM_003126	NP_003117	P02549	SPTA1_HUMAN			16	2243|2242	-	all_hematologic(112;0.0378)		682|681			Spectrin 7.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation|Silent	SNP	ENST00000368147.4	37	c.2044C>A|c.2043C>A	CCDS41423.1																																																																																				PASS	0.426	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		16	36	16	36	---	---	---	---
MR1	3140	broad.mit.edu	37	1	181018381	181018381	+	Silent	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:181018381G>T	ENST00000367580.5	+	2	266	c.261G>T	c.(259-261)ctG>ctT	p.L87L	MR1_ENST00000367579.3_Silent_p.L87L|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Silent_p.L87L|MR1_ENST00000282990.6_Silent_p.L87L	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	87	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)	p.L87L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	ACACTCAGCTGCTGAGGGGCT	0.582																																					Colon(174;1412 1962 45296 46549 47110)	uc001goq.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(259-261)CTG>CTT		major histocompatibility complex, class							44.0	43.0	43.0					1																	181018381		2203	4300	6503	SO:0001819	synonymous_variant	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181018381G>T	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.261G>T	1.37:g.181018381G>T						MR1_uc001gop.2_Silent_p.L87L|MR1_uc001gor.1_Silent_p.L87L|MR1_uc001gos.1_Silent_p.L87L|MR1_uc010pns.1_Silent_p.L87L	p.L87L	NM_001531	NP_001522	Q95460	HMR1_HUMAN			2	266	+			87			Extracellular (Potential).|Ligand-binding.|Alpha-1.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	c.261G>T	CCDS1342.1																																																																																				PASS	0.582	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		11	29	11	29	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181701998	181701998	+	Missense_Mutation	SNP	G	G	A	rs370910420	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:181701998G>A	ENST00000367573.2	+	20	2776	c.2776G>A	c.(2776-2778)Gtc>Atc	p.V926I	CACNA1E_ENST00000360108.3_Missense_Mutation_p.V907I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V858I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V533I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V907I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V877I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V926I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	926					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V926I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCATCGCCGCGTCAGGACAGA	0.652													G|||	4	0.000798722	0.0	0.0	5008	,	,		18205	0.0		0.0	False		,,,				2504	0.0041					uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2776-2778)GTC>ATC		calcium channel, voltage-dependent, R type,		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4300		0,0,2150	65.0	73.0	71.0		2776,2776,2719	3.2	0.3	1		71	1,8521		0,1,4260	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,1,6410	AA,AG,GG		0.0117,0.0,0.0078	benign,benign,benign	926/2271,926/2314,907/2252	181701998	1,12821	2150	4261	6411	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701998G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2776G>A	1.37:g.181701998G>A	ENSP00000356545:p.Val926Ile					CACNA1E_uc009wxs.2_Missense_Mutation_p.V814I|CACNA1E_uc001gox.1_Missense_Mutation_p.V152I|CACNA1E_uc009wxt.2_Missense_Mutation_p.V152I	p.V926I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			20	2941	+			926			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2776G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054867	0.36277	0.0	1.17E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96104	-3.85;-3.86;-3.85;-3.86;-3.91;-3.86;-3.85	4.13	3.22	0.36961	.	1.061770	0.07237	N	0.863588	D	0.89818	0.6825	N	0.08118	0	0.24843	N	0.992459	B;B;B	0.17852	0.003;0.024;0.005	B;B;B	0.09377	0.001;0.004;0.001	T	0.80964	-0.1147	10	0.54805	T	0.06	.	12.5065	0.55984	0.084:0.0:0.916:0.0	.	907;926;926	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	926;907;877;858;533;907;926	ENSP00000356542:V926I;ENSP00000434814:V907I;ENSP00000350183:V877I;ENSP00000351101:V858I;ENSP00000356539:V533I;ENSP00000353222:V907I;ENSP00000356545:V926I	ENSP00000350183:V877I	V	+	1	0	CACNA1E	179968621	0.975000	0.34042	0.296000	0.24974	0.874000	0.50279	3.126000	0.50477	1.334000	0.45468	0.555000	0.69702	GTC		PASS	0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		51	84	51	84	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	210856666	210856666	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:210856666G>T	ENST00000271751.4	-	11	2954	c.2927C>A	c.(2926-2928)cCa>cAa	p.P976Q	KCNH1_ENST00000367007.4_Missense_Mutation_p.P949Q			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	976					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.P976Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGGGACTGTGGCCTCGATAT	0.438																																						uc001hib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2926-2928)CCA>CAA		potassium voltage-gated channel, subfamily H,							95.0	105.0	102.0					1																	210856666		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210856666G>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2927C>A	1.37:g.210856666G>T	ENSP00000271751:p.Pro976Gln					KCNH1_uc001hic.2_Missense_Mutation_p.P949Q	p.P976Q	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	3097	-			976			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.2927C>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663640	0.88251	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99388	-5.81;-5.79	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	L	0.55481	1.735	0.80722	D	1	D;D	0.65815	0.987;0.995	P;D	0.64042	0.878;0.921	D	0.99855	1.1076	10	0.54805	T	0.06	.	18.462	0.90741	0.0:0.0:1.0:0.0	.	949;976	Q14CL3;O95259	.;KCNH1_HUMAN	Q	976;949	ENSP00000271751:P976Q;ENSP00000355974:P949Q	ENSP00000271751:P976Q	P	-	2	0	KCNH1	208923289	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.507000	0.97996	2.360000	0.80028	0.655000	0.94253	CCA		PASS	0.438	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		72	165	72	165	---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226065176	226065176	+	Silent	SNP	C	C	A	rs561113633		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:226065176C>A	ENST00000366835.3	-	3	375	c.105G>T	c.(103-105)tcG>tcT	p.S35S		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	35					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.S35S(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGTTTTTGGCCGAGTTGTAGC	0.607											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hpm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(103-105)TCG>TCT		transmembrane protein 63A							109.0	90.0	96.0					1																	226065176		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226065176C>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.105G>T	1.37:g.226065176C>A			OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2309	TMEM63A_uc010pvi.1_Silent_p.S35S	p.S35S	NM_014698	NP_055513	O94886	TM63A_HUMAN			3	355	-	Breast(184;0.197)		35					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.105G>T	CCDS31042.1																																																																																				PASS	0.607	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		14	44	14	44	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228562323	228562323	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:228562323C>G	ENST00000422127.1	+	97	22577	c.22533C>G	c.(22531-22533)atC>atG	p.I7511M	OBSCN_ENST00000366707.4_Missense_Mutation_p.I5145M|OBSCN_ENST00000570156.2_Missense_Mutation_p.I8468M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7511	Ig-like 55.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.I8093M(1)|p.I8223M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGTCCTCATCTCTGCCACCC	0.622																																						uc009xez.1																			2	Substitution - Missense(2)		lung(2)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(22531-22533)ATC>ATG		obscurin, cytoskeletal calmodulin and							91.0	101.0	98.0					1																	228562323		2088	4233	6321	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228562323C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.22533C>G	1.37:g.228562323C>G	ENSP00000409493:p.Ile7511Met					OBSCN_uc001hsr.1_Missense_Mutation_p.I2140M	p.I7511M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			97	22577	+		Prostate(94;0.0405)	7511			Ig-like 55.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.22533C>G	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.22|15.22	2.768065|2.768065	0.49680|0.49680	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.68624|.	-0.34;-0.34|.	5.16|5.16	4.25|4.25	0.50352|0.50352	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.148934|.	0.44097|.	D|.	0.000493|.	T|T	0.54224|0.54224	0.1845|0.1845	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.74348|.	0.983|.	T|T	0.49771|0.49771	-0.8904|-0.8904	10|5	0.59425|.	D|.	0.04|.	.|.	13.4954|13.4954	0.61424|0.61424	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	7511|.	Q5VST9|.	OBSCN_HUMAN|.	M|V	7511;5145|2128	ENSP00000409493:I7511M;ENSP00000355668:I5145M|.	ENSP00000355668:I5145M|.	I|L	+|+	3|1	3|0	OBSCN|OBSCN	226628946|226628946	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.123000|0.123000	0.20343|0.20343	1.043000|1.043000	0.30316|0.30316	1.191000|1.191000	0.43056|0.43056	0.561000|0.561000	0.74099|0.74099	ATC|CTC		PASS	0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		43	94	43	94	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237919670	237919670	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:237919670C>A	ENST00000366574.2	+	81	11545	c.11228C>A	c.(11227-11229)aCa>aAa	p.T3743K	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.T3749K|RYR2_ENST00000542537.1_Missense_Mutation_p.T3727K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3743					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T3741K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGCTACAGACAATCAGTGCC	0.488																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11227-11229)ACA>AAA		cardiac muscle ryanodine receptor							99.0	102.0	101.0					1																	237919670		1975	4172	6147	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237919670C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11228C>A	1.37:g.237919670C>A	ENSP00000355533:p.Thr3743Lys					RYR2_uc010pya.1_Missense_Mutation_p.T158K	p.T3743K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		81	11348	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3743					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11228C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	7.063	0.566840	0.13560	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.89939	-2.59;-2.59;-2.59	5.44	5.44	0.79542	.	0.000000	0.64402	U	0.000008	T	0.82075	0.4958	N	0.14661	0.345	0.80722	D	1	P;P	0.50710	0.856;0.938	B;P	0.46885	0.367;0.53	T	0.80874	-0.1187	10	0.30854	T	0.27	.	12.0225	0.53352	0.0:0.921:0.0:0.079	.	717;3743	B4DGV4;Q92736	.;RYR2_HUMAN	K	3743;3749;3727;717	ENSP00000355533:T3743K;ENSP00000353174:T3749K;ENSP00000443798:T3727K	ENSP00000353174:T3749K	T	+	2	0	RYR2	235986293	0.920000	0.31207	0.970000	0.41538	0.042000	0.13812	1.785000	0.38684	2.717000	0.92951	0.563000	0.77884	ACA		PASS	0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		27	53	27	53	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247614885	247614885	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:247614885G>A	ENST00000318749.6	-	1	423	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L134L(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCATAGTGCAGGGGCTTGCAG	0.622																																						uc010pyx.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(400-402)CTG>TTG		olfactory receptor, family 2, subfamily B,							83.0	69.0	74.0					1																	247614885		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614885G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.400C>T	1.37:g.247614885G>A							p.L134L	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	400	-	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	134			Cytoplasmic (Potential).		B2RP03	Silent	SNP	ENST00000318749.6	37	c.400C>T	CCDS31090.1																																																																																				PASS	0.622	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		26	72	26	72	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248738056	248738056	+	Start_Codon_SNP	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:248738056C>A	ENST00000328782.2	-	1	24	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCTGAGCACATGACTGGCT	0.448																																						uc001iep.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1-3)ATG>ATT		olfactory receptor, family 2, subfamily T,							56.0	77.0	70.0					1																	248738056		2058	4271	6329	SO:0001582	initiator_codon_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248738056C>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.3G>T	1.37:g.248738056C>A	ENSP00000330904:p.Met1Ile						p.M1I	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	3	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		1			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.3G>T	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	7.017	0.557978	0.13436	.	.	ENSG00000183310	ENST00000328782	T	0.09073	3.02	1.27	1.27	0.21489	.	.	.	.	.	T	0.07098	0.0180	.	.	.	0.80722	D	1	B	0.30211	0.273	B	0.29785	0.107	T	0.24977	-1.0145	8	0.87932	D	0	.	5.9993	0.19511	0.0:1.0:0.0:0.0	.	1	Q8NGX1	O2T34_HUMAN	I	1	ENSP00000330904:M1I	ENSP00000330904:M1I	M	-	3	0	OR2T34	246804679	0.000000	0.05858	0.120000	0.21714	0.046000	0.14306	-0.251000	0.08818	0.712000	0.32039	0.395000	0.25975	ATG		PASS	0.448	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	Missense_Mutation	20	82	20	82	---	---	---	---
OR2T35	403244	broad.mit.edu	37	1	248801900	248801900	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr1:248801900G>A	ENST00000317450.3	-	1	659	c.660C>T	c.(658-660)caC>caT	p.H220H		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H220H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGAGGATGTGCGTGTAGG	0.537																																						uc001ies.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(658-660)CAC>CAT		olfactory receptor, family 2, subfamily T,							109.0	94.0	99.0					1																	248801900		2048	4247	6295	SO:0001819	synonymous_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801900G>A	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.660C>T	1.37:g.248801900G>A							p.H220H	NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	660	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	220			Cytoplasmic (Potential).		Q6IEY7	Silent	SNP	ENST00000317450.3	37	c.660C>T	CCDS31123.1																																																																																				PASS	0.537	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		22	33	22	33	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1499811	1499811	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:1499811T>C	ENST00000345913.4	+	12	2148	c.2057T>C	c.(2056-2058)cTg>cCg	p.L686P	TPO_ENST00000349624.3_Missense_Mutation_p.L513P|TPO_ENST00000346956.3_Missense_Mutation_p.L686P|TPO_ENST00000382198.1_Missense_Mutation_p.L513P|TPO_ENST00000329066.4_Missense_Mutation_p.L686P|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.L629P|TPO_ENST00000337415.3_Missense_Mutation_p.L686P	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	686					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.L686P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGCGTGAGCTGGAGAAGCAC	0.562																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2056-2058)CTG>CCG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						80.0	65.0	70.0					2																	1499811		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1499811T>C		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2057T>C	2.37:g.1499811T>C	ENSP00000318820:p.Leu686Pro					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.L629P|TPO_uc002qwr.2_Missense_Mutation_p.L686P|TPO_uc002qwx.2_Missense_Mutation_p.L629P|TPO_uc010yio.1_Missense_Mutation_p.L513P|TPO_uc010yip.1_Missense_Mutation_p.L686P|TPO_uc002qwy.1_Missense_Mutation_p.L26P|TPO_uc002qwz.2_Intron	p.L686P	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	12	2148	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	686			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2057T>C	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.75|15.75	2.926639|2.926639	0.52759|0.52759	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.71817|.	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6|.	4.52|4.52	4.52|4.52	0.55395|0.55395	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85057|0.85057	0.5610|0.5610	M|M	0.94063|0.94063	3.49|3.49	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.89253|0.89253	0.3592|0.3592	10|5	0.87932|.	D|.	0|.	-23.3431|-23.3431	14.1398|14.1398	0.65313|0.65313	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	686;513;629;686|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	P|R	686;686;686;513;686;629;513;615;160|161	ENSP00000337263:L686P;ENSP00000318820:L686P;ENSP00000263886:L686P;ENSP00000332044:L513P;ENSP00000329869:L686P;ENSP00000371636:L629P;ENSP00000371633:L513P;ENSP00000405788:L615P;ENSP00000419461:L160P|.	ENSP00000329869:L686P|.	L|W	+|+	2|1	0|0	TPO|TPO	1478818|1478818	1.000000|1.000000	0.71417|0.71417	0.249000|0.249000	0.24280|0.24280	0.356000|0.356000	0.29392|0.29392	7.299000|7.299000	0.78831|0.78831	1.816000|1.816000	0.52996|0.52996	0.459000|0.459000	0.35465|0.35465	CTG|TGG		PASS	0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		12	22	12	22	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33487888	33487888	+	Splice_Site	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:33487888G>A	ENST00000404816.2	+	14	2871	c.2518G>A	c.(2518-2520)Gta>Ata	p.V840I	LTBP1_ENST00000404525.1_Splice_Site_p.V461I|LTBP1_ENST00000402934.1_Splice_Site_p.V461I|LTBP1_ENST00000354476.3_Missense_Mutation_p.G840S|LTBP1_ENST00000418533.2_Splice_Site_p.V514I|LTBP1_ENST00000390003.4_Missense_Mutation_p.G514S|LTBP1_ENST00000407925.1_Splice_Site_p.V514I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	840					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G840S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACAGTTTCCAGGTAGCCTGTG	0.403																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2518-2520)GGT>AGT		latent transforming growth factor beta binding							70.0	69.0	70.0					2																	33487888		2203	4300	6503	SO:0001630	splice_region_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33487888G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2518+1G>A	2.37:g.33487888G>A						LTBP1_uc002rot.2_Missense_Mutation_p.G514S|LTBP1_uc002rou.2_Missense_Mutation_p.V514I|LTBP1_uc002rov.2_Missense_Mutation_p.V461I|LTBP1_uc010ymz.1_Missense_Mutation_p.V514I|LTBP1_uc010yna.1_Missense_Mutation_p.V461I	p.G840S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			14	2518	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2518G>A	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.065443|3.065443	0.55432|0.55432	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000354476;ENST00000390003;ENST00000468091|ENST00000404816;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303	T;T;T|T;T;T;T;T;T	0.79554|0.80738	-1.28;-1.24;0.42|-1.41;-1.3;-1.33;-1.32;-1.3;1.71	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|.	.|.	.|.	.|.	T|T	0.77003|0.77003	0.4067|0.4067	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D|B;B;B;B	0.89917|0.16166	1.0;1.0|0.002;0.016;0.001;0.001	D;D|B;B;B;B	0.91635|0.18561	0.999;0.999|0.006;0.022;0.003;0.009	T|T	0.72214|0.72214	-0.4358|-0.4358	9|9	0.19590|0.39692	T|T	0.45|0.17	.|.	17.7368|17.7368	0.88396|0.88396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	514;840|840;514;461;514	Q14766-5;Q14766-4|Q14766;E7EV71;Q14766-3;Q14766-2	.;.|LTBP1_HUMAN;.;.;.	S|I	840;514;157|840;514;461;461;514;168	ENSP00000346467:G840S;ENSP00000374653:G514S;ENSP00000417591:G157S|ENSP00000386043:V840I;ENSP00000393057:V514I;ENSP00000384373:V461I;ENSP00000385359:V461I;ENSP00000384091:V514I;ENSP00000415412:V168I	ENSP00000346467:G840S|ENSP00000384373:V461I	G|V	+|+	1|1	0|0	LTBP1|LTBP1	33341392|33341392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	7.757000|7.757000	0.85209|0.85209	2.425000|2.425000	0.82216|0.82216	0.561000|0.561000	0.74099|0.74099	GGT|GTA		PASS	0.403	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Missense_Mutation	31	75	31	75	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385460	79385460	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:79385460G>T	ENST00000409839.3	-	4	361	c.325C>A	c.(325-327)Ccc>Acc	p.P109T	REG3A_ENST00000305165.2_Missense_Mutation_p.P109T|REG3A_ENST00000393878.1_Missense_Mutation_p.P109T|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	109	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.P109T(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACCTGTGTGGGGTCATGGAGC	0.572																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(325-327)CCC>ACC		pancreatitis-associated protein precursor							125.0	100.0	109.0					2																	79385460		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385460G>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.325C>A	2.37:g.79385460G>T	ENSP00000386630:p.Pro109Thr					REG3A_uc002soe.1_Missense_Mutation_p.P109T|REG3A_uc002sof.1_Missense_Mutation_p.P109T	p.P109T	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	580	-			109			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.325C>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171369	0.38315	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.13538	2.58;2.58;2.58	4.02	4.02	0.46733	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.53938	D	0.000048	T	0.34308	0.0893	M	0.75884	2.315	0.36934	D	0.892033	D	0.71674	0.998	D	0.71870	0.975	T	0.35176	-0.9799	10	0.72032	D	0.01	.	11.9367	0.52878	0.0:0.0:1.0:0.0	.	109	Q06141	REG3A_HUMAN	T	109	ENSP00000386630:P109T;ENSP00000377456:P109T;ENSP00000304311:P109T	ENSP00000304311:P109T	P	-	1	0	REG3A	79238968	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	3.918000	0.56432	2.529000	0.85273	0.603000	0.83216	CCC		PASS	0.572	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		25	31	25	31	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95537563	95537563	+	Missense_Mutation	SNP	C	C	A	rs537008603		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:95537563C>A	ENST00000295201.4	+	1	376	c.239C>A	c.(238-240)gCg>gAg	p.A80E	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.A80E	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	80					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.A80E(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCGCTGGCGCAGCGCACG	0.682																																						uc002stw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(238-240)GCG>GAG		tektin 4							16.0	18.0	17.0					2																	95537563		2187	4258	6445	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537563C>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.239C>A	2.37:g.95537563C>A	ENSP00000295201:p.Ala80Glu					uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.A80E	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			1	332	+			80						Missense_Mutation	SNP	ENST00000295201.4	37	c.239C>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	16.30	3.084803	0.55861	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02763	4.17;4.17	1.97	0.851	0.18989	.	0.239801	0.42053	D	0.000779	T	0.09949	0.0244	M	0.74258	2.255	0.38209	D	0.940424	D	0.65815	0.995	D	0.65140	0.932	T	0.06679	-1.0813	10	0.66056	D	0.02	-13.415	7.9084	0.29776	0.0:0.7421:0.2579:0.0	.	80	Q8WW24	TEKT4_HUMAN	E	80	ENSP00000295201:A80E;ENSP00000407596:A80E	ENSP00000295201:A80E	A	+	2	0	TEKT4	94901290	0.014000	0.17966	0.698000	0.30274	0.360000	0.29518	2.737000	0.47393	1.094000	0.41399	0.558000	0.71614	GCG		PASS	0.682	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		10	33	10	33	---	---	---	---
UXS1	80146	broad.mit.edu	37	2	106761798	106761798	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:106761798G>C	ENST00000409501.3	-	6	362	c.305C>G	c.(304-306)tCc>tGc	p.S102C	UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000283148.7_Missense_Mutation_p.S107C|UXS1_ENST00000540130.1_Missense_Mutation_p.S45C			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	102					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.S107C(1)|p.S102C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTTAGATGGGAGCCCACGAA	0.552																																						uc002tdm.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(304-306)TCC>TGC		UDP-glucuronate decarboxylase 1							89.0	88.0	88.0					2																	106761798		2101	4227	6328	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106761798G>C	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.305C>G	2.37:g.106761798G>C	ENSP00000387019:p.Ser102Cys					UXS1_uc002tdn.2_Missense_Mutation_p.S107C|UXS1_uc002tdo.2_Missense_Mutation_p.S45C|UXS1_uc010ywh.1_Intron	p.S102C	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			6	403	-			102			Lumenal (Potential).		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.305C>G	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930666	0.92389	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99133	1.0853	10	0.87932	D	0	-7.7237	20.1381	0.98040	0.0:0.0:1.0:0.0	.	107;102	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	C	107;45;102;45	ENSP00000283148:S107C;ENSP00000438265:S45C;ENSP00000387019:S102C;ENSP00000399316:S45C	ENSP00000283148:S107C	S	-	2	0	UXS1	106128230	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.434000	0.97515	2.763000	0.94921	0.650000	0.86243	TCC		PASS	0.552	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		15	31	15	31	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131116818	131116818	+	Missense_Mutation	SNP	G	G	A	rs199586116		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:131116818G>A	ENST00000175756.5	+	3	316	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	72	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.R72Q(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GATCAGACGCGAGTAATCCTC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		20719	0.0		0.001	False		,,,				2504	0.0					uc002trc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(214-216)CGA>CAA		protein tyrosine phosphatase, non-receptor type							84.0	86.0	85.0					2																	131116818		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116818G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.215G>A	2.37:g.131116818G>A	ENSP00000175756:p.Arg72Gln					PTPN18_uc002trd.2_Missense_Mutation_p.R72Q|PTPN18_uc002trb.2_Intron	p.R72Q	NM_014369	NP_055184	Q99952	PTN18_HUMAN			3	316	+	Colorectal(110;0.1)		72			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.215G>A	CCDS2161.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.65	2.598517	0.46318	.	.	ENSG00000072135	ENST00000175756;ENST00000409022	T	0.28895	1.59	4.34	1.5	0.22942	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.28104	N	0.016596	T	0.45034	0.1322	M	0.89904	3.07	0.25594	N	0.986661	P;D	0.76494	0.51;0.999	B;P	0.51516	0.117;0.672	T	0.43669	-0.9377	10	0.87932	D	0	.	5.0054	0.14286	0.1966:0.1747:0.6287:0.0	.	72;72	E7EMB8;Q99952	.;PTN18_HUMAN	Q	72	ENSP00000175756:R72Q	ENSP00000175756:R72Q	R	+	2	0	PTPN18	130833288	0.921000	0.31238	0.015000	0.15790	0.227000	0.25037	1.932000	0.40143	0.176000	0.19873	0.563000	0.77884	CGA		PASS	0.562	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			42	72	42	72	---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136633875	136633875	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:136633875C>T	ENST00000264156.2	-	1	121	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	21					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.E21K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TCGGCCACCTCGTCGCGGACC	0.697																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GAG>AAG		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						15.0	22.0	20.0					2																	136633875		2150	4239	6389	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136633875C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.61G>A	2.37:g.136633875C>T	ENSP00000264156:p.Glu21Lys						p.E21K	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	1	137	-			21					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.61G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198232	0.58126	.	.	ENSG00000076003	ENST00000264156	T	0.03212	4.01	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.05502	0.0145	M	0.64997	1.995	0.80722	D	1	P	0.43826	0.818	B	0.33960	0.173	T	0.51309	-0.8722	10	0.23891	T	0.37	-17.14	18.386	0.90466	0.0:1.0:0.0:0.0	.	21	Q14566	MCM6_HUMAN	K	21	ENSP00000264156:E21K	ENSP00000264156:E21K	E	-	1	0	MCM6	136350345	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.249000	0.78278	2.566000	0.86566	0.460000	0.39030	GAG		PASS	0.697	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		31	49	31	49	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163083088	163083088	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:163083088C>A	ENST00000188790.4	-	3	342	c.135G>T	c.(133-135)aaG>aaT	p.K45N	FAP_ENST00000443424.1_Missense_Mutation_p.K45N	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.K45N(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTAAAATATCCTTCAGTGTGA	0.289																																						uc002ucd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(133-135)AAG>AAT		fibroblast activation protein, alpha subunit							50.0	54.0	53.0					2																	163083088		2201	4290	6491	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163083088C>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.135G>T	2.37:g.163083088C>A	ENSP00000188790:p.Lys45Asn					FAP_uc010zct.1_Missense_Mutation_p.K45N|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Intron	p.K45N	NM_004460	NP_004451	Q12884	SEPR_HUMAN			3	343	-			45			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.135G>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410431	0.25465	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T	0.95918	-3.85;1.57	5.48	0.168	0.15012	.	0.157957	0.53938	D	0.000045	D	0.90195	0.6935	L	0.46157	1.445	0.32764	N	0.504722	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81724	-0.0802	10	0.36615	T	0.2	-0.6682	4.4294	0.11520	0.2467:0.3055:0.0:0.4478	.	45;45	B4DLR2;Q12884	.;SEPR_HUMAN	N	45;45;24	ENSP00000188790:K45N;ENSP00000411391:K45N	ENSP00000188790:K45N	K	-	3	2	FAP	162791334	0.490000	0.26012	0.994000	0.49952	0.672000	0.39443	-0.596000	0.05720	-0.185000	0.10550	-0.225000	0.12378	AAG		PASS	0.289	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			20	49	20	49	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167094728	167094728	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:167094728A>T	ENST00000409435.1	-	19	3676	c.3677T>A	c.(3676-3678)cTg>cAg	p.L1226Q	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1227Q|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1215Q|SCN9A_ENST00000375387.4_Missense_Mutation_p.L1227Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1226					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.L1215Q(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCATACTCCAGGATAATCTT	0.323																																						uc010fpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(3643-3645)CTG>CAG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						38.0	38.0	38.0					2																	167094728		2076	4261	6337	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167094728A>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3677T>A	2.37:g.167094728A>T	ENSP00000386330:p.Leu1226Gln					uc002udp.2_Intron	p.L1215Q	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			20	3985	-			1226			Helical; Name=S2 of repeat III; (Potential).|III.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.3644T>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500907	0.85176	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	5.25	5.25	0.73442	.	0.000000	0.45606	D	0.000351	D	0.99375	0.9780	H	0.97852	4.09	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.98383	1.0559	10	0.87932	D	0	.	15.1597	0.72775	1.0:0.0:0.0:0.0	.	1215	E7EUN6	.	Q	1215;1227;1227;1226	ENSP00000386306:L1215Q;ENSP00000364536:L1227Q;ENSP00000304748:L1227Q;ENSP00000386330:L1226Q	ENSP00000304748:L1227Q	L	-	2	0	SCN9A	166802974	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	1.987000	0.57996	0.533000	0.62120	CTG		PASS	0.323	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		10	17	10	17	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179477683	179477683	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:179477683C>G	ENST00000591111.1	-	215	45066	c.44842G>C	c.(44842-44844)Gaa>Caa	p.E14948Q	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7716Q|TTN_ENST00000589042.1_Missense_Mutation_p.E16589Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7524Q|TTN_ENST00000342992.6_Missense_Mutation_p.E14021Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7649Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14948	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E14021Q(2)|p.E7716Q(1)|p.E7649Q(1)|p.E7524Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCATTTCAATGACATAA	0.463																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(42061-42063)GAA>CAA		titin isoform N2-A							86.0	84.0	85.0					2																	179477683		1981	4170	6151	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477683C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44842G>C	2.37:g.179477683C>G	ENSP00000465570:p.Glu14948Gln					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7716Q|TTN_uc010zfi.1_Missense_Mutation_p.E7649Q|TTN_uc010zfj.1_Missense_Mutation_p.E7524Q	p.E14021Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		214	42285	-			14948					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.42061G>C		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073883	0.36566	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69771	0.3148	L	0.51914	1.62	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.71199	-0.4663	9	0.87932	D	0	.	19.6104	0.95604	0.0:1.0:0.0:0.0	.	7524;7649;7716;14948	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	14021;7524;7716;7649;7524	ENSP00000343764:E14021Q;ENSP00000434586:E7524Q;ENSP00000340554:E7716Q;ENSP00000352154:E7649Q	ENSP00000340554:E7716Q	E	-	1	0	TTN	179185928	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.770000	0.85390	2.636000	0.89361	0.557000	0.71058	GAA		PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	49	26	49	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179606388	179606388	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:179606388C>T	ENST00000591111.1	-	46	10845	c.10621G>A	c.(10621-10623)Gtg>Atg	p.V3541M	TTN_ENST00000342175.6_Missense_Mutation_p.V3687M|TTN_ENST00000589042.1_Missense_Mutation_p.V3858M|TTN_ENST00000460472.2_Missense_Mutation_p.V3495M|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.V3620M|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13876	Ig-like 21.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V3620M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAATAGCACTCCATTAAAG	0.418																																						uc010zfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11059-11061)GTG>ATG		titin isoform novex-2							121.0	117.0	118.0					2																	179606388		1919	4121	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606388C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10621G>A	2.37:g.179606388C>T	ENSP00000465570:p.Val3541Met					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V3620M|TTN_uc010zfj.1_Missense_Mutation_p.V3495M|TTN_uc002umz.1_Intron	p.V3687M	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11283	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11059G>A		.	.	.	.	.	.	.	.	.	.	C	6.234	0.411394	0.11812	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.67345	-0.26;-0.26;-0.26	6.07	0.625	0.17665	.	.	.	.	.	T	0.52419	0.1733	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.47886	-0.9082	9	0.87932	D	0	.	6.1315	0.20207	0.0:0.3777:0.1335:0.4888	.	3495;3620;3687	D3DPF9;E7EQE6;E7ET18	.;.;.	M	3495;3687;3620;3495	ENSP00000434586:V3495M;ENSP00000340554:V3687M;ENSP00000352154:V3620M	ENSP00000340554:V3687M	V	-	1	0	TTN	179314633	0.000000	0.05858	0.090000	0.20809	0.580000	0.36256	0.007000	0.13174	0.154000	0.19237	-0.225000	0.12378	GTG		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		56	119	56	119	---	---	---	---
FSIP2	401024	broad.mit.edu	37	2	186680145	186680145	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:186680145C>G	ENST00000424728.1	+	19	20373	c.20373C>G	c.(20371-20373)caC>caG	p.H6791Q	FSIP2_ENST00000343098.5_Missense_Mutation_p.H6880Q			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6791								p.H1489Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACTTCATACACAGAATTATGA	0.308																																						uc002upm.2																			2	Substitution - Missense(2)		lung(2)										Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.							87.0	81.0	83.0					2																	186680145		1828	4081	5909	SO:0001583	missense	0							g.chr2:186680145C>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20373C>G	2.37:g.186680145C>G	ENSP00000401306:p.His6791Gln					uc010zfu.1_Missense_Mutation_p.H1289Q								3		+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	RNA	SNP	ENST00000424728.1	37	c.3455C>G		.	.	.	.	.	.	.	.	.	.	C	13.80	2.343873	0.41498	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.59638	0.25;0.26	5.28	-1.04	0.10068	.	0.000000	0.56097	D	0.000033	T	0.48484	0.1502	L	0.36672	1.1	0.28190	N	0.927806	.	.	.	.	.	.	T	0.50268	-0.8848	8	0.66056	D	0.02	.	8.898	0.35476	0.0:0.4062:0.0:0.5938	.	.	.	.	Q	6880;6791	ENSP00000344403:H6880Q;ENSP00000401306:H6791Q	ENSP00000344403:H6880Q	H	+	3	2	FSIP2	186388390	0.998000	0.40836	0.977000	0.42913	0.164000	0.22412	0.128000	0.15810	-0.422000	0.07405	-0.140000	0.14226	CAC		PASS	0.308	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		24	52	24	52	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189876374	189876374	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:189876374C>A	ENST00000304636.3	+	51	4445	c.4275C>A	c.(4273-4275)agC>agA	p.S1425R	COL3A1_ENST00000317840.5_Missense_Mutation_p.S1122R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1425	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.S1425R(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGGAATGGAGCAAAACAGTCT	0.383																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(4273-4275)AGC>AGA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						186.0	169.0	174.0					2																	189876374		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189876374C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4275C>A	2.37:g.189876374C>A	ENSP00000304408:p.Ser1425Arg						p.S1425R	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		51	4392	+			1425			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.4275C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216203	0.39201	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.73469	-0.75;-0.75	5.69	2.69	0.31865	Fibrillar collagen, C-terminal (4);	0.225616	0.30930	N	0.008586	T	0.54951	0.1890	N	0.13299	0.325	0.26920	N	0.966696	B	0.30793	0.295	B	0.38842	0.283	T	0.41070	-0.9529	10	0.38643	T	0.18	.	3.0146	0.06055	0.175:0.5233:0.1707:0.131	.	1425	P02461	CO3A1_HUMAN	R	1425;1122	ENSP00000304408:S1425R;ENSP00000315243:S1122R	ENSP00000304408:S1425R	S	+	3	2	COL3A1	189584619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.709000	0.37909	2.682000	0.91365	0.585000	0.79938	AGC		PASS	0.383	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		28	53	28	53	---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192248021	192248021	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:192248021C>T	ENST00000392318.3	+	15	1553	c.1306C>T	c.(1306-1308)Cac>Tac	p.H436Y	MYO1B_ENST00000496992.1_3'UTR|MYO1B_ENST00000304164.4_Missense_Mutation_p.H436Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.H436Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.H436Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	436	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.H436Y(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGAATGGACTCACATTGACTA	0.338																																						uc010fsg.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(1306-1308)CAC>TAC		myosin IB isoform 1							161.0	153.0	155.0					2																	192248021		2202	4300	6502	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192248021C>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1306C>T	2.37:g.192248021C>T	ENSP00000376132:p.His436Tyr					MYO1B_uc002usq.2_Missense_Mutation_p.H436Y|MYO1B_uc002usr.2_Missense_Mutation_p.H436Y|MYO1B_uc002ust.1_Missense_Mutation_p.H74Y	p.H436Y	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		15	1561	+			436			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.1306C>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274325	0.80580	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	6.15	6.15	0.99193	Myosin head, motor domain (3);	0.047434	0.85682	D	0.000000	D	0.84822	0.5557	N	0.25380	0.74	0.80722	D	1	P;P;P	0.45011	0.848;0.848;0.704	P;P;P	0.49477	0.612;0.612;0.477	T	0.79160	-0.1918	10	0.07644	T	0.81	.	20.8387	0.99724	0.0:1.0:0.0:0.0	.	436;436;436	B0I1S9;O43795;O43795-2	.;MYO1B_HUMAN;.	Y	436	ENSP00000341903:H436Y;ENSP00000376132:H436Y;ENSP00000306382:H436Y;ENSP00000376130:H436Y	ENSP00000306382:H436Y	H	+	1	0	MYO1B	191956266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.217000	0.72218	2.932000	0.99384	0.643000	0.83706	CAC		PASS	0.338	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		13	37	13	37	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950160	198950160	+	Nonsense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:198950160C>G	ENST00000428675.1	+	2	2317	c.1919C>G	c.(1918-1920)tCa>tGa	p.S640*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.S542*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	640	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S542*(1)|p.S640*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAGTTCTTATCAAGAATCTAT	0.378																																						uc010fsp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1918-1920)TCA>TGA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						36.0	39.0	38.0					2																	198950160		2202	4300	6502	SO:0001587	stop_gained	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950160C>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1919C>G	2.37:g.198950160C>G	ENSP00000402861:p.Ser640*					PLCL1_uc002uuv.3_Nonsense_Mutation_p.S561*	p.S640*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2210	+			640			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP	ENST00000428675.1	37	c.1919C>G	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	37	6.622378	0.97714	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	5.36	5.36	0.76844	.	0.115474	0.39544	N	0.001321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	.	.	.	X	640;542	.	.	S	+	2	0	PLCL1	198658405	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.641000	0.83368	2.793000	0.96121	0.561000	0.74099	TCA		PASS	0.378	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		26	32	26	32	---	---	---	---
TMEM237	65062	broad.mit.edu	37	2	202501504	202501504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:202501504G>A	ENST00000409883.2	-	5	357	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	TMEM237_ENST00000409444.2_Nonsense_Mutation_p.Q73*	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	81					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Q81*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TGTCTTCTTTGAACAGGAGCC	0.448																																						uc002uyh.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(241-243)CAA>TAA		amyotrophic lateral sclerosis 2 (juvenile)							68.0	63.0	65.0					2																	202501504		1837	4100	5937	SO:0001587	stop_gained	65062					integral to membrane	protein binding	g.chr2:202501504G>A	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.241C>T	2.37:g.202501504G>A	ENSP00000386264:p.Gln81*					ALS2CR4_uc002uyg.1_Nonsense_Mutation_p.Q73*|ALS2CR4_uc010zhp.1_RNA	p.Q81*	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN			6	342	-			105					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Nonsense_Mutation	SNP	ENST00000409883.2	37	c.241C>T	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	G	34	5.291496	0.95546	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684	.	.	.	5.27	5.27	0.74061	.	0.185639	0.45606	D	0.000342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-7.3823	16.2129	0.82178	0.0:0.0:1.0:0.0	.	.	.	.	X	73;81;81;103	.	ENSP00000387203:Q73X	Q	-	1	0	TMEM237	202209749	0.937000	0.31787	0.989000	0.46669	0.962000	0.63368	5.221000	0.65272	2.732000	0.93576	0.650000	0.86243	CAA		PASS	0.448	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		6	12	6	12	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216248165	216248165	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:216248165C>G	ENST00000359671.1	-	30	4928	c.4663G>C	c.(4663-4665)Gac>Cac	p.D1555H	FN1_ENST00000354785.4_Missense_Mutation_p.D1646H|FN1_ENST00000356005.4_Missense_Mutation_p.D1555H|FN1_ENST00000323926.6_Missense_Mutation_p.D1646H|FN1_ENST00000336916.4_Missense_Mutation_p.D1555H|FN1_ENST00000432072.2_Missense_Mutation_p.D1646H|FN1_ENST00000421182.1_Missense_Mutation_p.D1555H|FN1_ENST00000346544.3_Missense_Mutation_p.D1555H|FN1_ENST00000357009.2_Missense_Mutation_p.D1555H|FN1_ENST00000345488.5_Missense_Mutation_p.D1555H|FN1_ENST00000446046.1_Missense_Mutation_p.D1555H|FN1_ENST00000443816.1_Missense_Mutation_p.D1555H|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000357867.4_Missense_Mutation_p.D1555H			P02751	FINC_HUMAN	fibronectin 1	1555	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.			D -> G (in Ref. 5; CAE45714). {ECO:0000305}.	acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.D1555H(1)|p.D1646H(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATGCTGTTGTCCTGAACATCG	0.458																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(4936-4938)GAC>CAC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						211.0	181.0	191.0					2																	216248165		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216248165C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4663G>C	2.37:g.216248165C>G	ENSP00000352696:p.Asp1555His					FN1_uc002vfb.2_Missense_Mutation_p.D1555H|FN1_uc002vfc.2_Missense_Mutation_p.D1555H|FN1_uc002vfd.2_Missense_Mutation_p.D1646H|FN1_uc002vfe.2_Missense_Mutation_p.D1555H|FN1_uc002vff.2_Missense_Mutation_p.D1555H|FN1_uc002vfg.2_Missense_Mutation_p.D1555H|FN1_uc002vfh.2_Missense_Mutation_p.D1555H|FN1_uc002vfi.2_Missense_Mutation_p.D1646H|FN1_uc002vfj.2_Missense_Mutation_p.D1646H|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.D273H|FN1_uc010fvc.1_Missense_Mutation_p.D8H|FN1_uc010fvd.1_Missense_Mutation_p.D8H	p.D1646H	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	31	5202	-		Renal(323;0.127)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.4936G>C		.	.	.	.	.	.	.	.	.	.	C	27.0	4.794974	0.90453	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	6.16	6.16	0.99307	.	0.070559	0.64402	D	0.000020	T	0.74465	0.3720	M	0.69823	2.125	0.35862	D	0.827562	D;D;D;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;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.993;0.999;0.998;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0	T	0.77877	-0.2424	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1346;1555;1646;1646;1555;1555;1555;1555;1556;1555;1555;1646	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.;.	H	1555;1646;1555;1555;1646;1556;1555;1555;1555;1555;1555;1555;1646;1555;362	ENSP00000394423:D1555H;ENSP00000323534:D1646H;ENSP00000338200:D1555H;ENSP00000350534:D1555H;ENSP00000346839:D1646H;ENSP00000352696:D1555H;ENSP00000265312:D1555H;ENSP00000273049:D1555H;ENSP00000349509:D1555H;ENSP00000410422:D1555H;ENSP00000415018:D1555H;ENSP00000399538:D1646H;ENSP00000348285:D1555H;ENSP00000416139:D362H	ENSP00000265313:D1556H	D	-	1	0	FN1	215956410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	GAC		PASS	0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		73	121	73	121	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219903729	219903729	+	Silent	SNP	C	C	T	rs372741687		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:219903729C>T	ENST00000341552.5	-	3	125	c.42G>A	c.(40-42)caG>caA	p.Q14Q	CCDC108_ENST00000453220.1_Silent_p.Q14Q|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000441968.1_Silent_p.Q14Q|CCDC108_ENST00000410037.1_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	14						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.Q14Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCACCTTCTGGGTTTTCT	0.433																																						uc002vjl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(40-42)CAG>CAA		coiled-coil domain containing 108 isoform 1		C	,	1,4405	2.1+/-5.4	0,1,2202	106.0	101.0	103.0		,42	1.3	0.0	2		103	0,8600		0,0,4300	no	intron,coding-synonymous	CCDC108	NM_152389.2,NM_194302.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,14/1926	219903729	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219903729C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.42G>A	2.37:g.219903729C>T						CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.2_Intron	p.Q14Q	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	126	-		Renal(207;0.0915)	14					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.42G>A	CCDS2430.2																																																																																				PASS	0.433	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		27	50	27	50	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447508	226447508	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:226447508G>A	ENST00000272907.6	+	4	1788	c.1375G>A	c.(1375-1377)Gct>Act	p.A459T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	459	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.A459T(2)									CCCTTACGACGCTGTGCATTC	0.627																																						uc002voe.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1375-1377)GCT>ACT		hypothetical protein LOC57624							45.0	50.0	48.0					2																	226447508		2039	4199	6238	SO:0001583	missense	57624							g.chr2:226447508G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1375G>A	2.37:g.226447508G>A	ENSP00000272907:p.Ala459Thr					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.A229T	p.A459T	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1550	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	459			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1375G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145976	0.37923	.	.	ENSG00000144460	ENST00000272907	T	0.30714	1.52	5.19	4.22	0.49857	.	0.247464	0.41823	D	0.000812	T	0.15522	0.0374	N	0.14661	0.345	0.80722	D	1	P	0.49961	0.93	B	0.38194	0.267	T	0.02533	-1.1145	10	0.28530	T	0.3	-13.4619	10.5722	0.45206	0.0:0.0:0.5605:0.4395	.	459	Q9P242	K1486_HUMAN	T	459	ENSP00000272907:A459T	ENSP00000272907:A459T	A	+	1	0	KIAA1486	226155752	0.998000	0.40836	0.977000	0.42913	0.941000	0.58515	3.662000	0.54510	2.415000	0.81967	0.563000	0.77884	GCT		PASS	0.627	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		4	72	4	72	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230643175	230643175	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:230643175C>T	ENST00000283943.5	-	35	5291	c.5113G>A	c.(5113-5115)Gcc>Acc	p.A1705T	TRIP12_ENST00000389045.3_Missense_Mutation_p.A1435T|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1753T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1705					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.A1705T(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATAGCCTTGGCCATTAATTTT	0.438																																						uc002vpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(5113-5115)GCC>ACC		thyroid hormone receptor interactor 12							160.0	158.0	159.0					2																	230643175		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230643175C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5113G>A	2.37:g.230643175C>T	ENSP00000283943:p.Ala1705Thr					TRIP12_uc002vpx.1_Missense_Mutation_p.A1753T|TRIP12_uc002vpy.1_Missense_Mutation_p.A1435T	p.A1705T	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	35	5222	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1705					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5113G>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466187	0.96257	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000418123	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.88	5.88	0.94601	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	M	0.91612	3.225	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.79108	0.992;0.992;0.992	D	0.83526	0.0088	10	0.87932	D	0	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	1435;1753;1705	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	1705;1435;1753;3	ENSP00000283943:A1705T;ENSP00000373697:A1435T;ENSP00000373696:A1753T;ENSP00000408330:A3T	ENSP00000283943:A1705T	A	-	1	0	TRIP12	230351419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.395000	0.79876	2.774000	0.95407	0.655000	0.94253	GCC		PASS	0.438	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		42	105	42	105	---	---	---	---
NEU2	4759	broad.mit.edu	37	2	233899701	233899701	+	Silent	SNP	C	C	T	rs201865338		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr2:233899701C>T	ENST00000233840.3	+	2	1077	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	359					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)	p.Y359Y(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CCAATGATTACGAGGAGATTG	0.577																																						uc010zmn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1075-1077)TAC>TAT		neuraminidase 2							155.0	164.0	161.0					2																	233899701		2203	4300	6503	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899701C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.1077C>T	2.37:g.233899701C>T							p.Y359Y	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	1077	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	359					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.1077C>T	CCDS2501.1																																																																																				PASS	0.577	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		89	170	89	170	---	---	---	---
GALNT15	117248	broad.mit.edu	37	3	16242202	16242202	+	Silent	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr3:16242202G>T	ENST00000339732.5	+	3	1286	c.783G>T	c.(781-783)ctG>ctT	p.L261L	GALNT15_ENST00000437509.1_Silent_p.L261L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	261	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L261L(1)									ACAAGAGGCTGGGTGCCATCA	0.612																																						uc003car.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(781-783)CTG>CTT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							46.0	46.0	46.0					3																	16242202		2203	4300	6503	SO:0001819	synonymous_variant	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16242202G>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.783G>T	3.37:g.16242202G>T						GALNTL2_uc003caq.3_5'UTR	p.L261L	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			3	1258	+			261			Lumenal (Potential).|Catalytic subdomain A.		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.783G>T	CCDS33711.1																																																																																				PASS	0.612	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		3	41	3	41	---	---	---	---
APEH	327	broad.mit.edu	37	3	49713631	49713631	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr3:49713631G>A	ENST00000296456.5	+	6	985	c.585G>A	c.(583-585)aaG>aaA	p.K195K	APEH_ENST00000438011.1_Silent_p.K195K	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	195					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.K195K(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGGCTGAAGAAGCCAGACC	0.582																																						uc003cxf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(583-585)AAG>AAA		N-acylaminoacyl-peptide hydrolase							50.0	50.0	50.0					3																	49713631		2203	4300	6503	SO:0001819	synonymous_variant	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49713631G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.585G>A	3.37:g.49713631G>A						APEH_uc010hkw.1_Silent_p.K195K	p.K195K	NM_001640	NP_001631	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	985	+			195					Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.585G>A	CCDS2801.1																																																																																				PASS	0.582	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			24	15	24	15	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124746086	124746086	+	Silent	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr3:124746086C>T	ENST00000311127.4	-	3	943	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	292					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R292R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAGCTGCTGTCCTGTAGAAAT	0.498																																						uc003ehs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(874-876)AGG>AGA		HEG homolog 1 precursor							49.0	54.0	53.0					3																	124746086		2001	4150	6151	SO:0001819	synonymous_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746086C>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.876G>A	3.37:g.124746086C>T						HEG1_uc011bke.1_Silent_p.R292R	p.R292R	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			3	944	-			292			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	c.876G>A	CCDS46898.1																																																																																				PASS	0.498	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		10	31	10	31	---	---	---	---
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159482463	159482463	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr3:159482463G>C	ENST00000460298.1	+	2	455	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	IQCJ-SCHIP1-AS1_ENST00000460574.1_RNA|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.E99Q|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.E148Q|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.E175Q|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.E99Q|IQCJ-SCHIP1_ENST00000527095.1_Intron					IQCJ-SCHIP1 readthrough									p.E99Q(1)|p.E175Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ggaggacggggaggaggagga	0.677																																						uc003fcs.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(295-297)GAG>CAG		schwannomin interacting protein 1							21.0	19.0	19.0					3																	159482463		2202	4300	6502	SO:0001583	missense	29970					cytoplasm	identical protein binding|protein binding	g.chr3:159482463G>C		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.214G>C	3.37:g.159482463G>C	ENSP00000417305:p.Glu72Gln					SCHIP1_uc003fcq.1_Missense_Mutation_p.E175Q|SCHIP1_uc003fcr.1_Missense_Mutation_p.E88Q|SCHIP1_uc003fct.1_Missense_Mutation_p.E99Q|SCHIP1_uc010hvz.1_Missense_Mutation_p.E72Q	p.E99Q	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		2	361	+			99			Poly-Glu.			Missense_Mutation	SNP	ENST00000460298.1	37	c.295G>C		.	.	.	.	.	.	.	.	.	.	G	19.07	3.755294	0.69648	.	.	ENSG00000250588	ENST00000476809;ENST00000485419;ENST00000481715;ENST00000337808;ENST00000412423;ENST00000467377;ENST00000460298;ENST00000472451	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	3.85	3.85	0.44370	.	0.207319	0.30101	N	0.010402	T	0.32071	0.0817	N	0.19112	0.55	0.36568	D	0.872821	P;P;P;P	0.44816	0.759;0.844;0.759;0.844	B;B;B;B	0.43658	0.245;0.426;0.245;0.426	T	0.33523	-0.9865	9	.	.	.	.	15.3902	0.74739	0.0:0.0:1.0:0.0	.	72;99;99;175	C9J366;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;SCHI1_HUMAN;.	Q	148;175;148;99;99;72;72;72	ENSP00000418692:E148Q;ENSP00000420182:E175Q;ENSP00000419125:E148Q;ENSP00000337239:E99Q;ENSP00000400942:E99Q;ENSP00000418452:E72Q;ENSP00000417305:E72Q;ENSP00000417080:E72Q	.	E	+	1	0	IQCJ-SCHIP1	160965157	1.000000	0.71417	0.517000	0.27799	0.575000	0.36095	7.479000	0.81095	2.078000	0.62432	0.462000	0.41574	GAG		PASS	0.677	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		10	12	10	12	---	---	---	---
SLC2A2	6514	broad.mit.edu	37	3	170716076	170716076	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr3:170716076A>G	ENST00000314251.3	-	10	1359	c.1280T>C	c.(1279-1281)tTc>tCc	p.F427S	SLC2A2_ENST00000382808.4_Missense_Mutation_p.F308S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	427					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.F427S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	TCCTTGACTGAAAAACTCAGC	0.473																																						uc003fhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1279-1281)TTC>TCC		solute carrier family 2 (facilitated glucose							80.0	80.0	80.0					3																	170716076		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170716076A>G	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1280T>C	3.37:g.170716076A>G	ENSP00000323568:p.Phe427Ser					SLC2A2_uc003fhf.1_Missense_Mutation_p.F254S|SLC2A2_uc011bpu.1_Missense_Mutation_p.F300S	p.F427S	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		10	1589	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		427			Cytoplasmic (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.1280T>C	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660122	0.88154	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.79554	-1.28;-1.28	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94444	0.7661	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	427	P11168	GTR2_HUMAN	S	427;308	ENSP00000323568:F427S;ENSP00000372258:F308S	ENSP00000323568:F427S	F	-	2	0	SLC2A2	172198770	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	TTC		PASS	0.473	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		33	156	33	156	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195477899	195477899	+	Silent	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr3:195477899G>C	ENST00000346145.4	-	22	3063	c.3024C>G	c.(3022-3024)gtC>gtG	p.V1008V	MUC4_ENST00000475231.1_Silent_p.V5192V|MUC4_ENST00000349607.4_Silent_p.V957V|MUC4_ENST00000463781.3_Silent_p.V5244V	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2001	Repeat.|Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1008V(1)|p.V5244V(1)|p.V5116V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGAAGTCAATGACCGGGCCCC	0.622																																						uc011bto.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(15346-15348)GTC>GTG		mucin 4 isoform a							48.0	48.0	48.0					3																	195477899		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195477899G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3024C>G	3.37:g.195477899G>C						MUC4_uc010hzq.2_Silent_p.V101V|MUC4_uc003fuz.2_Silent_p.V842V|MUC4_uc003fva.2_Silent_p.V724V|MUC4_uc003fvb.2_Silent_p.V760V|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.V760V|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.V724V|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.V808V|MUC4_uc011bti.1_Silent_p.V808V|MUC4_uc011btj.1_Silent_p.V985V|MUC4_uc011btk.1_Silent_p.V724V|MUC4_uc011btl.1_Silent_p.V753V|MUC4_uc011btm.1_Silent_p.V933V|MUC4_uc011btn.1_Silent_p.V724V|MUC4_uc003fvo.2_Silent_p.V1008V|MUC4_uc003fvp.2_Silent_p.V957V	p.V5116V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	24	15808	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2001					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.15348C>G	CCDS3310.1																																																																																				PASS	0.622	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		20	93	20	93	---	---	---	---
IGFBP7	3490	broad.mit.edu	37	4	57907042	57907042	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr4:57907042T>C	ENST00000295666.4	-	2	566	c.533A>G	c.(532-534)tAc>tGc	p.Y178C	IGFBP7_ENST00000537922.1_Missense_Mutation_p.Y178C|IGFBP7_ENST00000512512.1_5'UTR	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	178	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Y178C(1)		central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACAGCTCAAGTACACCTGGGC	0.517																																						uc003hcn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(532-534)TAC>TGC		insulin-like growth factor binding protein 7	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						99.0	83.0	89.0					4																	57907042		2203	4300	6503	SO:0001583	missense	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57907042T>C	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.533A>G	4.37:g.57907042T>C	ENSP00000295666:p.Tyr178Cys					IGFBP7_uc011cag.1_Missense_Mutation_p.Y178C	p.Y178C	NM_001553	NP_001544	Q16270	IBP7_HUMAN			2	555	-	Glioma(25;0.08)|all_neural(26;0.181)		178			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Missense_Mutation	SNP	ENST00000295666.4	37	c.533A>G	CCDS3512.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.549957	0.65311	.	.	ENSG00000163453	ENST00000295666;ENST00000537922	T;T	0.66995	-0.24;-0.24	5.78	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.164616	0.42294	D	0.000722	T	0.74007	0.3660	L	0.51914	1.62	0.41615	D	0.988933	D;D	0.76494	0.998;0.999	D;D	0.66716	0.916;0.946	T	0.74607	-0.3609	10	0.59425	D	0.04	-9.3925	9.8613	0.41116	0.2714:0.0:0.0:0.7285	.	178;178	B4E1N2;Q16270	.;IBP7_HUMAN	C	178	ENSP00000295666:Y178C;ENSP00000444146:Y178C	ENSP00000295666:Y178C	Y	-	2	0	IGFBP7	57601799	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.698000	0.47068	0.976000	0.38417	0.460000	0.39030	TAC		PASS	0.517	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			37	15	37	15	---	---	---	---
ADH4	127	broad.mit.edu	37	4	100057789	100057789	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr4:100057789G>T	ENST00000265512.7	-	5	484	c.410C>A	c.(409-411)aCc>aAc	p.T137N	ADH4_ENST00000508393.1_Missense_Mutation_p.T156N|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.T156N|ADH4_ENST00000505590.1_Missense_Mutation_p.T156N	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	137					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.T137N(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TCCTTTGCAGGTAAACCTGCT	0.353																																						uc003hun.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(409-411)ACC>AAC		class II alcohol dehydrogenase, pi subunit	NADH(DB00157)						112.0	110.0	111.0					4																	100057789		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100057789G>T	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.410C>A	4.37:g.100057789G>T	ENSP00000265512:p.Thr137Asn					uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.T156N	p.T137N	NM_000670	NP_000661	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	5	486	-			137					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.410C>A	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631984	0.87660	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.03496	3.91;3.91;3.91;3.91;3.91;3.91	4.55	4.55	0.56014	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.067775	0.56097	D	0.000029	T	0.18509	0.0444	M	0.77103	2.36	0.80722	D	1	P;D	0.58620	0.948;0.983	P;D	0.67548	0.689;0.952	T	0.00617	-1.1642	10	0.72032	D	0.01	-4.9672	17.5352	0.87829	0.0:0.0:1.0:0.0	.	156;137	P08319-2;P08319	.;ADH4_HUMAN	N	156;137;156;156;156;119	ENSP00000424630:T156N;ENSP00000265512:T137N;ENSP00000397939:T156N;ENSP00000425416:T156N;ENSP00000423571:T156N;ENSP00000427525:T119N	ENSP00000265512:T137N	T	-	2	0	ADH4	100276812	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.827000	0.75303	2.373000	0.80994	0.650000	0.86243	ACC		PASS	0.353	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		29	18	29	18	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129880756	129880756	+	Splice_Site	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr4:129880756T>A	ENST00000281142.5	-	12	1549	c.1046A>T	c.(1045-1047)cAg>cTg	p.Q349L	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	349					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.Q349L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTTTCTTACCTGACTTTTTTG	0.338																																						uc003igp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1045-1047)CAG>CTG		sodium channel associated protein 1							117.0	113.0	114.0					4																	129880756		2203	4299	6502	SO:0001630	splice_region_variant	132320					centrosome		g.chr4:129880756T>A	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1047+1A>T	4.37:g.129880756T>A						SCLT1_uc003ign.2_Missense_Mutation_p.Q13L|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.Q349L	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			12	1552	-			349			Potential.		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1046A>T	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967662	0.53507	.	.	ENSG00000151466	ENST00000281142	T	0.08807	3.05	5.31	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	M	0.66939	2.045	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.00330	-1.1812	9	.	.	.	-1.018	10.9706	0.47436	0.0:0.0742:0.0:0.9258	.	349	Q96NL6	SCLT1_HUMAN	L	349	ENSP00000281142:Q349L	.	Q	-	2	0	SCLT1	130100206	1.000000	0.71417	0.991000	0.47740	0.352000	0.29268	3.195000	0.51013	0.845000	0.35118	0.533000	0.62120	CAG		PASS	0.338	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	Missense_Mutation	27	24	27	24	---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166929130	166929130	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr4:166929130G>C	ENST00000061240.2	+	7	1494	c.847G>C	c.(847-849)Gaa>Caa	p.E283Q	TLL1_ENST00000513213.1_Missense_Mutation_p.E283Q|TLL1_ENST00000507499.1_Missense_Mutation_p.E283Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	283	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E283*(1)|p.E283Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGAGCCTGGAGAAGTAAACTC	0.408																																						uc003irh.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(847-849)GAA>CAA		tolloid-like 1 precursor							122.0	117.0	119.0					4																	166929130		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166929130G>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.847G>C	4.37:g.166929130G>C	ENSP00000061240:p.Glu283Gln					TLL1_uc011cjn.1_Missense_Mutation_p.E283Q|TLL1_uc011cjo.1_Missense_Mutation_p.E107Q	p.E283Q	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	7	1494	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	283			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.847G>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422274	0.83559	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.64085	-0.08;-0.08;-0.08	5.29	5.29	0.74685	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.062472	0.64402	U	0.000006	T	0.68467	0.3004	L	0.48877	1.53	0.80722	D	1	D;P	0.63046	0.992;0.908	P;B	0.52909	0.713;0.402	T	0.70806	-0.4772	10	0.56958	D	0.05	.	18.9969	0.92817	0.0:0.0:1.0:0.0	.	283;283	E9PD25;O43897	.;TLL1_HUMAN	Q	283	ENSP00000061240:E283Q;ENSP00000426082:E283Q;ENSP00000422937:E283Q	ENSP00000061240:E283Q	E	+	1	0	TLL1	167148580	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	9.730000	0.98797	2.488000	0.83962	0.650000	0.86243	GAA		PASS	0.408	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			32	23	32	23	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176561965	176561965	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr4:176561965C>G	ENST00000280187.7	-	6	602	c.557G>C	c.(556-558)gGa>gCa	p.G186A	GPM6A_ENST00000515090.1_Missense_Mutation_p.G179A|GPM6A_ENST00000506894.1_Missense_Mutation_p.G175A|GPM6A_ENST00000393658.2_Missense_Mutation_p.G186A|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	186					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.G186A(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)		CTTTTCCTCTCCAATTGTCAC	0.333																																						uc003iuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)GGA>GCA		glycoprotein M6A isoform 2							93.0	93.0	93.0					4																	176561965		2203	4298	6501	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176561965C>G		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.557G>C	4.37:g.176561965C>G	ENSP00000280187:p.Gly186Ala					GPM6A_uc011ckj.1_Missense_Mutation_p.G179A|GPM6A_uc003iug.2_Missense_Mutation_p.G186A|GPM6A_uc003iuh.2_Missense_Mutation_p.G175A	p.G186A	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)	5	1361	-		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)	186			Extracellular (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.557G>C	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119413	0.37436	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397	D;D;D;D;D	0.99136	-5.47;-5.47;-5.47;-5.47;-5.47	5.72	5.72	0.89469	.	0.232832	0.42548	D	0.000682	D	0.96917	0.8993	N	0.22421	0.69	0.49389	D	0.999785	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.001;0.001;0.005	D	0.93693	0.7009	10	0.34782	T	0.22	-26.4284	19.4869	0.95033	0.0:1.0:0.0:0.0	.	179;175;186	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	A	186;186;175;179;178	ENSP00000280187:G186A;ENSP00000377268:G186A;ENSP00000421578:G175A;ENSP00000423984:G179A;ENSP00000422959:G178A	ENSP00000280187:G186A	G	-	2	0	GPM6A	176798959	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.545000	0.53648	2.711000	0.92665	0.637000	0.83480	GGA		PASS	0.333	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			13	10	13	10	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177056260	177056260	+	Splice_Site	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr4:177056260G>A	ENST00000280190.4	+	9	1328	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	WDR17_ENST00000393643.2_Splice_Site_p.G367E|WDR17_ENST00000507824.2_Splice_Site_p.G374E|WDR17_ENST00000508596.1_Splice_Site_p.G367E			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	391								p.G391E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATTCCTAGGGACATGTGGAA	0.328																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1171-1173)GGA>GAA		WD repeat domain 17 isoform 1							99.0	101.0	101.0					4																	177056260		2203	4299	6502	SO:0001630	splice_region_variant	116966							g.chr4:177056260G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1171-1G>A	4.37:g.177056260G>A						WDR17_uc003iuk.2_Missense_Mutation_p.G367E|WDR17_uc003ium.3_Missense_Mutation_p.G367E|WDR17_uc003iul.1_Intron	p.G391E	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	9	1328	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	391			WD 6.		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1172G>A	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.904769|4.904769	0.92035|0.92035	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.69685	.|-0.42;-0.42;-0.42	5.5|5.5	5.5|5.5	0.81552|0.81552	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78836|0.78836	0.4346|0.4346	L|L	0.48260|0.48260	1.515|1.515	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.80144|0.80144	-0.1505|-0.1505	5|10	.|0.87932	.|D	.|0	-22.1265|-22.1265	19.3911|19.3911	0.94583|0.94583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|367;391	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	N|E	140|367;367;391;374	.|ENSP00000422763:G367E;ENSP00000377258:G367E;ENSP00000280190:G391E	.|ENSP00000280190:G391E	D|G	+|+	1|2	0|0	WDR17|WDR17	177293254|177293254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.333000|9.333000	0.96459|0.96459	2.595000|2.595000	0.87683|0.87683	0.650000|0.650000	0.86243|0.86243	GAC|GGA		PASS	0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Missense_Mutation	45	32	45	32	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1878381	1878381	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:1878381G>C	ENST00000505790.1	-	6	1718	c.1262C>G	c.(1261-1263)tCt>tGt	p.S421C	IRX4_ENST00000231357.2_Missense_Mutation_p.S421C|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000513692.1_Missense_Mutation_p.S421C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	421					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S421C(1)		endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CAGGGCGCCAGAGTGGGGAAG	0.662																																						uc003jcz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1261-1263)TCT>TGT		iroquois homeobox 4							7.0	10.0	9.0					5																	1878381		2104	4194	6298	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1878381G>C	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.1262C>G	5.37:g.1878381G>C	ENSP00000423161:p.Ser421Cys					IRX4_uc011cmf.1_Missense_Mutation_p.S282C	p.S421C	NM_016358	NP_057442	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1381	-			421					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.1262C>G	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	g	3.035	-0.198753	0.06219	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.66460	-0.21;-0.21;-0.21	2.79	2.79	0.32731	.	0.863142	0.10008	N	0.727639	T	0.51770	0.1694	L	0.29908	0.895	0.09310	N	1	B	0.27853	0.191	B	0.28784	0.094	T	0.44190	-0.9344	10	0.48119	T	0.1	-0.708	5.7719	0.18257	0.1471:0.0:0.8529:0.0	.	421	P78413	IRX4_HUMAN	C	421	ENSP00000231357:S421C;ENSP00000423161:S421C;ENSP00000424235:S421C	ENSP00000231357:S421C	S	-	2	0	IRX4	1931381	0.001000	0.12720	0.003000	0.11579	0.009000	0.06853	0.830000	0.27462	1.869000	0.54173	0.552000	0.68991	TCT		PASS	0.662	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		5	15	5	15	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38435307	38435307	+	Silent	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:38435307G>T	ENST00000354891.3	+	16	2581	c.2235G>T	c.(2233-2235)gtG>gtT	p.V745V	EGFLAM_ENST00000397202.2_Silent_p.V111V|EGFLAM_ENST00000336740.6_Silent_p.V511V|EGFLAM_ENST00000322350.5_Silent_p.V745V	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	745	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		V -> M (in dbSNP:rs2561818).		extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.V745V(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGATGATGTGAAGAAGAACT	0.463																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(2233-2235)GTG>GTT		EGF-like, fibronectin type III and laminin G							108.0	107.0	107.0					5																	38435307		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38435307G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2235G>T	5.37:g.38435307G>T						EGFLAM_uc003jlb.1_Silent_p.V745V|EGFLAM_uc003jle.1_Silent_p.V511V|EGFLAM_uc003jlf.1_Silent_p.V111V	p.V745V	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			16	2559	+	all_lung(31;0.000385)		745			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2235G>T	CCDS56363.1																																																																																				PASS	0.463	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		32	99	32	99	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202020	39202020	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:39202020G>A	ENST00000351578.6	-	2	1233	c.1043C>T	c.(1042-1044)cCt>cTt	p.P348L	FYB_ENST00000512982.1_Missense_Mutation_p.P348L|FYB_ENST00000515010.1_Missense_Mutation_p.P348L|FYB_ENST00000540520.1_Missense_Mutation_p.P358L|FYB_ENST00000505428.1_Missense_Mutation_p.P348L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	348	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P348L(3)|p.P358L(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AAACAAGGGAGGCAATGGCTT	0.512																																						uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1042-1044)CCT>CTT		FYN binding protein (FYB-120/130) isoform 2							148.0	152.0	151.0					5																	39202020		1932	4128	6060	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202020G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1043C>T	5.37:g.39202020G>A	ENSP00000316460:p.Pro348Leu					FYB_uc003jlt.2_Missense_Mutation_p.P348L|FYB_uc003jlu.2_Missense_Mutation_p.P348L|FYB_uc011cpl.1_Missense_Mutation_p.P358L	p.P348L	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	1110	-	all_lung(31;0.000343)		348			Interaction with SKAP1.		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1043C>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037770	0.75617	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.75260	-0.89;-0.89;-0.92;-0.92;-0.87	5.93	5.93	0.95920	.	0.119108	0.56097	D	0.000021	D	0.87091	0.6091	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87191	0.2234	10	0.87932	D	0	-10.6891	20.3539	0.98825	0.0:0.0:1.0:0.0	.	358;348	B4DLN2;O15117	.;FYB_HUMAN	L	348;348;348;348;358;348	ENSP00000316460:P348L;ENSP00000426346:P348L;ENSP00000425845:P348L;ENSP00000427114:P348L;ENSP00000442840:P358L	ENSP00000316460:P348L	P	-	2	0	FYB	39237777	1.000000	0.71417	0.956000	0.39512	0.606000	0.37113	6.778000	0.75043	2.826000	0.97356	0.655000	0.94253	CCT		PASS	0.512	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		32	95	32	95	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41007490	41007490	+	Silent	SNP	A	A	T	rs145454293	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:41007490A>T	ENST00000399564.4	-	34	4125	c.3675T>A	c.(3673-3675)tcT>tcA	p.S1225S	MROH2B_ENST00000506092.2_Silent_p.S780S	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1225								p.S1225S(1)									CCCCCTCATCAGATTCCTTTG	0.448																																						uc003jmj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(3673-3675)TCT>TCA		HEAT repeat family member 7B2							72.0	67.0	68.0					5																	41007490		1871	4104	5975	SO:0001819	synonymous_variant	133558						binding	g.chr5:41007490A>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3675T>A	5.37:g.41007490A>T						HEATR7B2_uc003jmi.3_Silent_p.S780S	p.S1225S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			34	4165	-			1225					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.3675T>A	CCDS47202.1																																																																																				PASS	0.448	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	14	3	14	---	---	---	---
CCL28	56477	broad.mit.edu	37	5	43382071	43382071	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:43382071T>A	ENST00000361115.4	-	3	349	c.275A>T	c.(274-276)aAa>aTa	p.K92I	CCL28_ENST00000513525.1_Missense_Mutation_p.K45I	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	92					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)	p.K92I(1)		kidney(3)|lung(3)|ovary(1)	7						TTTACCATTTTTCTTGGCAGC	0.458																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	uc003jnu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(274-276)AAA>ATA		chemokine (C-C motif) ligand 28 precursor							240.0	194.0	210.0					5																	43382071		2203	4300	6503	SO:0001583	missense	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43382071T>A	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.275A>T	5.37:g.43382071T>A	ENSP00000354416:p.Lys92Ile					CCL28_uc003jns.2_RNA|CCL28_uc003jnt.2_RNA|CCL28_uc010ivn.2_Missense_Mutation_p.K45I	p.K92I	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN			3	345	-			92					D7RIE7	Missense_Mutation	SNP	ENST00000361115.4	37	c.275A>T	CCDS3944.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.553219	0.65425	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.03801	3.8;3.8	5.44	4.29	0.51040	Chemokine interleukin-8-like domain (1);	0.203894	0.33875	N	0.004467	T	0.06508	0.0167	L	0.34521	1.04	0.80722	D	1	P	0.48911	0.917	P	0.49226	0.603	T	0.38200	-0.9672	10	0.48119	T	0.1	-11.787	7.7495	0.28888	0.0:0.0916:0.0:0.9084	.	92	Q9NRJ3	CCL28_HUMAN	I	92;45	ENSP00000354416:K92I;ENSP00000422369:K45I	ENSP00000354416:K92I	K	-	2	0	CCL28	43417828	0.993000	0.37304	0.996000	0.52242	0.720000	0.41350	1.595000	0.36708	1.094000	0.41399	0.533000	0.62120	AAA		PASS	0.458	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		78	194	78	194	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43649385	43649385	+	Silent	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:43649385G>C	ENST00000264663.5	+	11	1802	c.1581G>C	c.(1579-1581)ctG>ctC	p.L527L	NNT_ENST00000344920.4_Silent_p.L527L|NNT_ENST00000512996.2_Silent_p.L396L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	527					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.L527L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ACTCACCACTGATGTCTGTGA	0.488																																						uc003joe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1579-1581)CTG>CTC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						275.0	267.0	269.0					5																	43649385		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43649385G>C	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1581G>C	5.37:g.43649385G>C						NNT_uc003jof.2_Silent_p.L527L	p.L527L	NM_012343	NP_036475	Q13423	NNTM_HUMAN			11	1836	+	Lung NSC(6;2.58e-06)		527			Helical; (Potential).		Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.1581G>C	CCDS3949.1																																																																																				PASS	0.488	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		93	319	93	319	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98234111	98234111	+	Missense_Mutation	SNP	C	C	A	rs201680764		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:98234111C>A	ENST00000284049.3	-	9	1363	c.1214G>T	c.(1213-1215)gGt>gTt	p.G405V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	405	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.G405V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATCAGGATAACCAGCTGCTGA	0.363																																						uc003knf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(1213-1215)GGT>GTT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						67.0	67.0	67.0					5																	98234111		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98234111C>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1214G>T	5.37:g.98234111C>A	ENSP00000284049:p.Gly405Val						p.G405V	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	9	1362	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	405			Chromo 2.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1214G>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988213	0.93106	.	.	ENSG00000153922	ENST00000284049	T	0.76060	-0.99	5.91	5.91	0.95273	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.34291	U	0.004083	D	0.82416	0.5032	M	0.85777	2.775	0.80722	D	1	P	0.50066	0.931	P	0.46339	0.513	D	0.85020	0.0911	10	0.66056	D	0.02	.	20.2936	0.98544	0.0:1.0:0.0:0.0	.	405	O14646	CHD1_HUMAN	V	405	ENSP00000284049:G405V	ENSP00000284049:G405V	G	-	2	0	CHD1	98262011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.775000	0.55349	2.801000	0.96364	0.655000	0.94253	GGT		PASS	0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		20	8	20	8	---	---	---	---
P4HA2	8974	broad.mit.edu	37	5	131553476	131553476	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:131553476C>A	ENST00000401867.1	-	4	716	c.148G>T	c.(148-150)Gtg>Ttg	p.V50L	P4HA2_ENST00000379104.2_Missense_Mutation_p.V50L|P4HA2_ENST00000166534.4_Missense_Mutation_p.V50L|P4HA2_ENST00000379086.1_Missense_Mutation_p.V50L|P4HA2_ENST00000360568.3_Missense_Mutation_p.V50L|P4HA2_ENST00000379100.2_Missense_Mutation_p.V50L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	50					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.V50L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GCTTCCTCCACAAGGATGTAC	0.498																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	uc003kwh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)GTG>TTG		prolyl 4-hydroxylase, alpha II subunit isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)						145.0	139.0	141.0					5																	131553476		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131553476C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.148G>T	5.37:g.131553476C>A	ENSP00000384999:p.Val50Leu					P4HA2_uc003kwg.2_Missense_Mutation_p.V50L|P4HA2_uc003kwi.2_Missense_Mutation_p.V50L|P4HA2_uc003kwk.2_Missense_Mutation_p.V50L|P4HA2_uc003kwl.2_Missense_Mutation_p.V50L|P4HA2_uc003kwj.2_Missense_Mutation_p.V50L	p.V50L	NM_004199	NP_004190	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	712	-		all_cancers(142;0.103)|Breast(839;0.198)	50					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.148G>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651079	0.29336	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698;ENST00000395164;ENST00000453286;ENST00000428369;ENST00000418055;ENST00000416053;ENST00000428841	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.7	1.97	0.26223	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.385930	0.30809	N	0.008823	T	0.27866	0.0686	L	0.31752	0.955	0.23943	N	0.996394	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.008	T	0.19353	-1.0308	10	0.56958	D	0.05	-26.2854	7.1027	0.25346	0.1221:0.683:0.0:0.1949	.	50;50	O15460;O15460-2	P4HA2_HUMAN;.	L	50;50;50;50;50;50;50;82;50;50;50;50;50;50;50	ENSP00000384999:V50L;ENSP00000368379:V50L;ENSP00000166534:V50L;ENSP00000353772:V50L;ENSP00000368398:V50L;ENSP00000368394:V50L	ENSP00000166534:V50L	V	-	1	0	P4HA2	131581375	0.999000	0.42202	0.637000	0.29366	0.058000	0.15608	4.081000	0.57627	0.077000	0.16863	-0.912000	0.02778	GTG		PASS	0.498	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		57	39	57	39	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857271	140857271	+	Silent	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:140857271C>A	ENST00000308177.3	+	1	1692	c.1588C>A	c.(1588-1590)Cgg>Agg	p.R530R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|RN7SL68P_ENST00000488078.2_RNA	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R530R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGAGGATCGGCGGGAATT	0.493																																						uc003lkv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1588-1590)CGG>AGG		protocadherin gamma subfamily C, 3 isoform 1							45.0	48.0	47.0					5																	140857271		2203	4300	6503	SO:0001819	synonymous_variant	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140857271C>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1588C>A	5.37:g.140857271C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.R530R|PCDHGC3_uc003lkw.1_Intron	p.R530R	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1703	+			530			Cadherin 5.|Extracellular (Potential).		O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1588C>A	CCDS4261.1																																																																																				PASS	0.493	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		3	45	3	45	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156592581	156592581	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:156592581C>A	ENST00000302938.4	-	1	694	c.599G>T	c.(598-600)aGc>aTc	p.S200I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	200						nucleus (GO:0005634)		p.S200I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCACTAGGCTTTTGTTGTC	0.517																																						uc003lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(598-600)AGC>ATC		family with sequence similarity 71, member B							230.0	231.0	231.0					5																	156592581		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592581C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.599G>T	5.37:g.156592581C>A	ENSP00000305596:p.Ser200Ile						p.S200I	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	699	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	200					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.599G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889348	0.33348	.	.	ENSG00000170613	ENST00000302938	T	0.05513	3.43	3.8	1.01	0.19927	.	0.436398	0.19434	N	0.114345	T	0.04907	0.0132	L	0.47190	1.495	0.09310	N	1	B	0.33345	0.409	B	0.29077	0.098	T	0.33854	-0.9852	10	0.52906	T	0.07	-12.9264	2.6501	0.04996	0.19:0.5218:0.184:0.1042	.	200	Q8TC56	FA71B_HUMAN	I	200	ENSP00000305596:S200I	ENSP00000305596:S200I	S	-	2	0	FAM71B	156525159	0.069000	0.21087	0.009000	0.14445	0.004000	0.04260	0.620000	0.24403	0.202000	0.20498	-0.885000	0.02943	AGC		PASS	0.517	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		127	114	127	114	---	---	---	---
NIPAL4	348938	broad.mit.edu	37	5	156890110	156890110	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:156890110C>T	ENST00000311946.7	+	2	348	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	NIPAL4_ENST00000435489.2_Missense_Mutation_p.L78F|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000521390.1_3'UTR	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	78						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.L16F(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						AGGTTCCCTGCTCCACCTCTA	0.517																																						uc003lwx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CTC>TTC		ichthyin protein							103.0	102.0	102.0					5																	156890110		2013	4178	6191	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156890110C>T	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.232C>T	5.37:g.156890110C>T	ENSP00000311687:p.Leu78Phe					ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.L78F|NIPAL4_uc010jin.1_Silent_p.C12C	p.L78F	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			2	348	+			78			Extracellular (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.232C>T	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025595	0.35701	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.92752	-3.1;-2.98	5.12	-0.494	0.12034	.	0.553887	0.19380	N	0.115696	D	0.83903	0.5355	L	0.32530	0.975	0.25962	N	0.982616	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.71938	-0.4441	10	0.42905	T	0.14	-5.3131	5.8472	0.18673	0.308:0.5159:0.0759:0.1002	.	78;78	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	F	78	ENSP00000406456:L78F;ENSP00000311687:L78F	ENSP00000311687:L78F	L	+	1	0	NIPAL4	156822688	0.331000	0.24713	0.983000	0.44433	0.890000	0.51754	-0.333000	0.07894	-0.017000	0.14103	-0.397000	0.06425	CTC		PASS	0.517	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		30	24	30	24	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167673951	167673951	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:167673951G>A	ENST00000518659.1	+	27	6046	c.6007G>A	c.(6007-6009)Gac>Aac	p.D2003N	TENM2_ENST00000519204.1_Missense_Mutation_p.D1882N|TENM2_ENST00000520394.1_Missense_Mutation_p.D1764N|TENM2_ENST00000545108.1_Missense_Mutation_p.D2002N|TENM2_ENST00000403607.2_Missense_Mutation_p.D1827N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2003					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.D1882N(1)|p.D1836N(1)|p.D2003N(1)									CTACAGTGATGACGGCCGCAT	0.512																																						uc010jjd.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(5980-5982)GAC>AAC		odz, odd Oz/ten-m homolog 2							83.0	84.0	83.0					5																	167673951		1994	4169	6163	SO:0001583	missense	57451							g.chr5:167673951G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6007G>A	5.37:g.167673951G>A	ENSP00000429430:p.Asp2003Asn					ODZ2_uc003lzr.3_Missense_Mutation_p.D1764N|ODZ2_uc003lzt.3_Missense_Mutation_p.D1367N|ODZ2_uc010jje.2_Missense_Mutation_p.D1258N	p.D1994N	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	5980	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5980G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.471368	0.84533	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90504	-2.22;-2.21;-2.31;-2.65;-2.68	5.44	5.44	0.79542	.	0.085818	0.85682	D	0.000000	D	0.95459	0.8525	M	0.80616	2.505	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.78314	0.967;0.928;0.991	D	0.94654	0.7842	10	0.41790	T	0.15	.	19.2461	0.93902	0.0:0.0:1.0:0.0	.	2002;2003;1764	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	N	2003;2002;1882;1764;1827	ENSP00000429430:D2003N;ENSP00000438635:D2002N;ENSP00000428964:D1882N;ENSP00000427874:D1764N;ENSP00000384905:D1827N	ENSP00000384905:D1827N	D	+	1	0	ODZ2	167606529	1.000000	0.71417	0.811000	0.32455	0.916000	0.54674	9.869000	0.99810	2.560000	0.86352	0.561000	0.74099	GAC		PASS	0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		35	33	35	33	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176710800	176710800	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:176710800G>A	ENST00000439151.2	+	20	6067	c.6022G>A	c.(6022-6024)Gat>Aat	p.D2008N	NSD1_ENST00000354179.4_Missense_Mutation_p.D1739N|NSD1_ENST00000361032.4_Missense_Mutation_p.D1905N|NSD1_ENST00000347982.4_Missense_Mutation_p.D1739N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2008	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D2008N(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCGAATCATTGATGCTGGTCC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(6022-6024)GAT>AAT		nuclear receptor binding SET domain protein 1							115.0	110.0	112.0					5																	176710800		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176710800G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6022G>A	5.37:g.176710800G>A	ENSP00000395929:p.Asp2008Asn	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.D1739N|NSD1_uc011dfx.1_Missense_Mutation_p.D1656N	p.D2008N	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	20	6160	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2008			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6022G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	36	5.616279	0.96649	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.42	5.42	0.78866	SET domain (3);	0.000000	0.64402	D	0.000008	D	0.98302	0.9437	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99357	1.0916	10	0.87932	D	0	.	19.5951	0.95533	0.0:0.0:1.0:0.0	.	1739;2008	Q96L73-2;Q96L73	.;NSD1_HUMAN	N	1739;2008;1739;1905	ENSP00000346111:D1739N;ENSP00000395929:D2008N;ENSP00000343209:D1739N;ENSP00000354310:D1905N	ENSP00000343209:D1739N	D	+	1	0	NSD1	176643406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.814000	0.99346	2.705000	0.92388	0.591000	0.81541	GAT		PASS	0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		52	37	52	37	---	---	---	---
PRELID1	27166	broad.mit.edu	37	5	176733505	176733505	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr5:176733505G>C	ENST00000303204.4	+	5	806	c.594G>C	c.(592-594)gaG>gaC	p.E198D	RAB24_ENST00000303270.6_5'Flank|PRELID1_ENST00000503216.1_Missense_Mutation_p.E187D|MXD3_ENST00000427908.2_3'UTR|RAB24_ENST00000303251.6_5'Flank|RAB24_ENST00000393611.2_5'Flank			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	198					apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.E198D(1)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCTACAGAGAAGGCCAAGG	0.592																																						uc003mfx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GAG>GAC		PRELI domain containing 1 precursor							20.0	19.0	20.0					5																	176733505		2203	4295	6498	SO:0001583	missense	27166				immune response|multicellular organismal development	mitochondrion|nucleus		g.chr5:176733505G>C	BC013748	CCDS4415.1, CCDS64328.1	5q35.3	2010-01-18			ENSG00000169230	ENSG00000169230			30255	protein-coding gene	gene with protein product	"""protein of relevant evolutionary and lymphoid interest"", ""px19-like protein"""	605733				10784606, 14640972	Standard	NM_013237		Approved	CGI-106, PX19, PRELI	uc003mfx.4	Q9Y255	OTTHUMG00000130847	ENST00000303204.4:c.594G>C	5.37:g.176733505G>C	ENSP00000302114:p.Glu198Asp					RAB24_uc003mfu.2_5'Flank|RAB24_uc003mfv.2_5'Flank|RAB24_uc003mfw.2_5'Flank|PRELID1_uc003mfy.2_Missense_Mutation_p.E196D|MXD3_uc010jkk.2_3'UTR	p.E198D	NM_013237	NP_037369	Q9Y255	PRLD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	746	+	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	198					B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9	Missense_Mutation	SNP	ENST00000303204.4	37	c.594G>C	CCDS4415.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611772	0.66558	.	.	ENSG00000169230	ENST00000303204;ENST00000503216;ENST00000503853	T;T	0.19105	2.17;2.17	4.36	2.55	0.30701	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	L	0.36672	1.1	0.47994	D	0.999569	P;D	0.58970	0.953;0.984	D;D	0.65443	0.935;0.935	T	0.01081	-1.1458	10	0.46703	T	0.11	-5.1098	9.7782	0.40632	0.2372:0.0:0.7628:0.0	.	187;198	D6RD25;Q9Y255	.;PRLD1_HUMAN	D	198;187;166	ENSP00000302114:E198D;ENSP00000427097:E187D	ENSP00000302114:E198D	E	+	3	2	PRELID1	176666111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.326000	0.59241	0.446000	0.26666	0.462000	0.41574	GAG		PASS	0.592	PRELID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253414.1	NM_013237		12	6	12	6	---	---	---	---
HIST1H2AA	221613	broad.mit.edu	37	6	25726721	25726721	+	Missense_Mutation	SNP	C	C	G	rs373261344		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:25726721C>G	ENST00000297012.3	-	1	69	c.35G>C	c.(34-36)cGc>cCc	p.R12P	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	12						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R12P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AGACTTGGCGCGTGCTTTTCC	0.527																																						uc003nfc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CGC>CCC		histone cluster 1, H2aa							462.0	354.0	391.0					6																	25726721		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726721C>G	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.35G>C	6.37:g.25726721C>G	ENSP00000297012:p.Arg12Pro					HIST1H2BA_uc003nfd.2_5'Flank	p.R12P	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			1	70	-			12						Missense_Mutation	SNP	ENST00000297012.3	37	c.35G>C	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	9.836	1.189813	0.21954	.	.	ENSG00000164508	ENST00000297012	T	0.44881	0.91	3.56	0.695	0.18070	Histone-fold (2);Histone H2A (1);	0.000000	0.46442	D	0.000298	T	0.22513	0.0543	M	0.83852	2.665	0.31405	N	0.676182	P	0.52463	0.953	B	0.37091	0.241	T	0.10870	-1.0611	10	0.87932	D	0	.	7.426	0.27098	0.0:0.6839:0.0:0.3161	.	12	Q96QV6	H2A1A_HUMAN	P	12	ENSP00000297012:R12P	ENSP00000297012:R12P	R	-	2	0	HIST1H2AA	25834700	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.632000	0.24583	0.128000	0.18479	0.555000	0.69702	CGC		PASS	0.527	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		39	66	39	66	---	---	---	---
SLC17A4	10050	broad.mit.edu	37	6	25777088	25777088	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:25777088C>A	ENST00000377905.4	+	10	1288	c.1169C>A	c.(1168-1170)tCc>tAc	p.S390Y	SLC17A4_ENST00000439485.2_Missense_Mutation_p.S160Y|SLC17A4_ENST00000397076.2_Missense_Mutation_p.S188Y	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	390					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.S390Y(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGGTCAGATCCAGCCACAGC	0.542																																						uc003nfe.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1168-1170)TCC>TAC		solute carrier family 17 (sodium phosphate),							174.0	142.0	153.0					6																	25777088		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25777088C>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1169C>A	6.37:g.25777088C>A	ENSP00000367137:p.Ser390Tyr					SLC17A4_uc011djx.1_Missense_Mutation_p.S160Y|SLC17A4_uc003nff.1_Missense_Mutation_p.S179Y|SLC17A4_uc003nfg.2_Missense_Mutation_p.S327Y|SLC17A4_uc010jqa.2_Intron	p.S390Y	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			10	1288	+			390					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.1169C>A	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631633	0.46944	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.72394	0.25;0.17;-0.65	5.62	0.787	0.18596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.567448	0.16084	N	0.230376	T	0.49915	0.1585	M	0.66939	2.045	0.31695	N	0.641385	B;P;B	0.35700	0.071;0.516;0.218	B;B;B	0.40009	0.059;0.187;0.316	T	0.42632	-0.9440	10	0.59425	D	0.04	.	4.3134	0.10981	0.1478:0.5295:0.0:0.3226	.	160;188;390	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	Y	390;160;188	ENSP00000367137:S390Y;ENSP00000391345:S160Y;ENSP00000380266:S188Y	ENSP00000367137:S390Y	S	+	2	0	SLC17A4	25885067	0.955000	0.32602	0.932000	0.37286	0.991000	0.79684	0.558000	0.23469	-0.069000	0.12931	-0.188000	0.12872	TCC		PASS	0.542	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			81	110	81	110	---	---	---	---
SLC17A2	10246	broad.mit.edu	37	6	25918760	25918760	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:25918760G>T	ENST00000265425.3	-	5	624	c.604C>A	c.(604-606)Cta>Ata	p.L202I	SLC17A2_ENST00000360488.3_Missense_Mutation_p.L202I|SLC17A2_ENST00000377850.3_Missense_Mutation_p.L202I			O00624	NPT3_HUMAN	solute carrier family 17, member 2	202					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.L202I(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGTGAGATTAGTCCCCCCACA	0.443																																						uc011dkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(604-606)CTA>ATA		SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;							99.0	93.0	95.0					6																	25918760		2203	4300	6503	SO:0001583	missense	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25918760G>T	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.604C>A	6.37:g.25918760G>T	ENSP00000265425:p.Leu202Ile					SLC17A2_uc011dkc.1_Missense_Mutation_p.L202I|SLC17A2_uc003nfl.2_Missense_Mutation_p.L202I	p.L202I			O00624	NPT3_HUMAN			5	687	-			202			Helical; (Potential).		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37	c.604C>A		.	.	.	.	.	.	.	.	.	.	G	8.444	0.851487	0.17034	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.58652	0.32;0.32;0.32	4.22	0.605	0.17553	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.318283	0.22812	N	0.055329	T	0.10594	0.0259	N	0.12887	0.27	0.23095	N	0.998308	B;B;B	0.31548	0.094;0.173;0.328	B;B;B	0.32393	0.145;0.124;0.076	T	0.33317	-0.9873	10	0.08837	T	0.75	.	3.4046	0.07336	0.3313:0.2017:0.467:0.0	.	202;202;202	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	I	202	ENSP00000353677:L202I;ENSP00000367081:L202I;ENSP00000265425:L202I	ENSP00000265425:L202I	L	-	1	2	SLC17A2	26026739	0.068000	0.21057	0.986000	0.45419	0.916000	0.54674	0.142000	0.16096	0.092000	0.17331	-0.345000	0.07892	CTA		PASS	0.443	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			44	78	44	78	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)CAG>CGG		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.Q78R	NM_002116	NP_002107	P30443	1A01_HUMAN			2	233	+			78			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		PASS	0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		5	28	5	28	---	---	---	---
CFB	629	broad.mit.edu	37	6	31918167	31918167	+	Silent	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:31918167C>A	ENST00000425368.2	+	12	2124	c.1611C>A	c.(1609-1611)atC>atA	p.I537I	CFB_ENST00000556679.1_Silent_p.I1039I|CFB_ENST00000456570.1_Silent_p.I1039I|CFB_ENST00000477310.1_Silent_p.I888I	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	537	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			I -> T (in Ref. 15; AAA36219). {ECO:0000305}.	complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.I537I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AACACTCAATCAAGGTCAGCG	0.517																																						uc003nyj.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1609-1611)ATC>ATA		complement factor B preproprotein							175.0	112.0	135.0					6																	31918167		1511	2709	4220	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31918167C>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1611C>A	6.37:g.31918167C>A						CFB_uc011dor.1_Silent_p.I1039I|CFB_uc003nyi.2_Silent_p.I537I	p.I537I	NM_001710	NP_001701	P00751	CFAB_HUMAN			12	1889	+			537	I -> T (in Ref. 13; AAA36219).		Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	c.1611C>A	CCDS4729.1																																																																																				PASS	0.517	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		38	63	38	63	---	---	---	---
HLA-DRB5	3127	broad.mit.edu	37	6	32497911	32497911	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:32497911C>T	ENST00000374975.3	-	1	153	c.91G>A	c.(91-93)Gac>Aac	p.D31N		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.D31N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CGTCGGGTGTCCCCAGCCAAA	0.537																																						uc003obj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GAC>AAC		major histocompatibility complex, class II, DR							103.0	105.0	105.0					6																	32497911		2203	4300	6503	SO:0001583	missense	3127				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32497911C>T		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.91G>A	6.37:g.32497911C>T	ENSP00000364114:p.Asp31Asn					HLA-DRB1_uc011dqa.1_Intron|HLA-DRB5_uc003obk.3_Intron	p.D31N	NM_002125	NP_002116	Q30154	DRB5_HUMAN			1	96	-			31			Beta-1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000374975.3	37	c.91G>A	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	16.02	3.004628	0.54254	.	.	ENSG00000198502	ENST00000374975	T	0.00274	8.35	4.54	1.62	0.23740	MHC classes I/II-like antigen recognition protein (1);	1.376800	0.04589	N	0.396439	T	0.00271	0.0008	M	0.74467	2.265	0.09310	N	1	D	0.71674	0.998	D	0.79784	0.993	T	0.48658	-0.9016	10	0.66056	D	0.02	.	4.7072	0.12855	0.0:0.6168:0.1793:0.2039	.	31	Q30154	DRB5_HUMAN	N	31	ENSP00000364114:D31N	ENSP00000364114:D31N	D	-	1	0	HLA-DRB5	32605889	0.559000	0.26562	0.006000	0.13384	0.034000	0.12701	1.608000	0.36847	0.543000	0.28864	0.485000	0.47835	GAC		PASS	0.537	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		8	105	8	105	---	---	---	---
PPARD	5467	broad.mit.edu	37	6	35392324	35392324	+	Silent	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:35392324C>G	ENST00000311565.4	+	8	1195	c.846C>G	c.(844-846)ctC>ctG	p.L282L	PPARD_ENST00000360694.3_Silent_p.L282L|PPARD_ENST00000337400.2_Silent_p.L282L|PPARD_ENST00000448077.2_Silent_p.L243L|PPARD_ENST00000540939.1_Silent_p.L179L|PPARD_ENST00000418635.2_Silent_p.L184L|PPARD_ENST00000444397.1_Silent_p.L282L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	282	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L282L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TTACCCTTCTCAAGTATGGCG	0.597																																						uc003okm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(844-846)CTC>CTG		peroxisome proliferative activated receptor,	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						94.0	78.0	84.0					6																	35392324		2203	4300	6503	SO:0001819	synonymous_variant	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35392324C>G	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.846C>G	6.37:g.35392324C>G						PPARD_uc003okl.2_Silent_p.L282L|PPARD_uc003okn.2_Silent_p.L282L|PPARD_uc011dtb.1_Silent_p.L243L|PPARD_uc011dtc.1_Silent_p.L184L	p.L282L	NM_006238	NP_006229	Q03181	PPARD_HUMAN			7	1155	+			282			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	37	c.846C>G	CCDS4803.1																																																																																				PASS	0.597	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		19	36	19	36	---	---	---	---
KLC4	89953	broad.mit.edu	37	6	43040698	43040698	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:43040698C>G	ENST00000394056.2	+	14	2120	c.1625C>G	c.(1624-1626)tCc>tGc	p.S542C	KLC4_ENST00000479388.1_Missense_Mutation_p.S542C|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000347162.5_Missense_Mutation_p.S542C|KLC4_ENST00000259708.3_Missense_Mutation_p.S560C|KLC4_ENST00000394058.1_Missense_Mutation_p.S542C|KLC4_ENST00000453940.2_Missense_Mutation_p.S465C			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	542						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.S542C(1)		endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GTGGAGTGGTCCGGGGTAAGT	0.557																																						uc003otv.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1624-1626)TCC>TGC		kinesin-like 8 isoform a							205.0	170.0	182.0					6																	43040698		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43040698C>G	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1625C>G	6.37:g.43040698C>G	ENSP00000377620:p.Ser542Cys					KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.S465C|KLC4_uc003otw.1_Missense_Mutation_p.S560C|KLC4_uc003otx.1_Missense_Mutation_p.S542C|KLC4_uc003oty.1_Missense_Mutation_p.S542C|KLC4_uc003otz.1_Missense_Mutation_p.S542C	p.S542C	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		13	1702	+			542					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.1625C>G	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937007	0.52972	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.79554	-1.25;-1.26;-1.28;-1.25;-1.25;-1.25	5.89	5.89	0.94794	.	0.129923	0.35708	N	0.003040	T	0.79185	0.4403	L	0.59436	1.845	0.36294	D	0.856627	D;P;P	0.69078	0.997;0.948;0.913	P;P;B	0.55667	0.781;0.545;0.343	T	0.81510	-0.0900	10	0.49607	T	0.09	-6.0201	10.3519	0.43941	0.1408:0.7053:0.1539:0.0	.	465;560;542	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	C	542;465;560;542;542;542	ENSP00000340221:S542C;ENSP00000395806:S465C;ENSP00000259708:S560C;ENSP00000418031:S542C;ENSP00000377620:S542C;ENSP00000377622:S542C	ENSP00000259708:S560C	S	+	2	0	KLC4	43148676	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	2.672000	0.46850	2.793000	0.96121	0.561000	0.74099	TCC		PASS	0.557	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		45	63	45	63	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46826856	46826856	+	Silent	SNP	G	G	A	rs369593357		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:46826856G>A	ENST00000283296.7	-	17	3072	c.2784C>T	c.(2782-2784)gtC>gtT	p.V928V	GPR116_ENST00000362015.4_Silent_p.V928V|GPR116_ENST00000456426.2_Silent_p.V786V|GPR116_ENST00000545669.1_Silent_p.V357V|GPR116_ENST00000265417.7_Silent_p.V928V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	928					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V928V(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TATTGTGGCTGACAGTGGTTG	0.458																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2782-2784)GTC>GTT		G-protein coupled receptor 116 precursor		G	,	0,4406		0,0,2203	128.0	115.0	119.0		2784,2784	3.5	0.5	6		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GPR116	NM_001098518.1,NM_015234.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	928/1347,928/1347	46826856	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826856G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2784C>T	6.37:g.46826856G>A						GPR116_uc011dwj.1_Silent_p.V483V|GPR116_uc011dwk.1_Silent_p.V357V|GPR116_uc003oyp.3_Silent_p.V786V|GPR116_uc003oyq.3_Silent_p.V928V|GPR116_uc010jzi.1_Silent_p.V600V	p.V928V	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3073	-			928			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2784C>T	CCDS4919.1																																																																																				PASS	0.458	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		56	91	56	91	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51491841	51491841	+	Silent	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:51491841G>T	ENST00000371117.3	-	66	12014	c.11739C>A	c.(11737-11739)cgC>cgA	p.R3913R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3913			R -> H (in dbSNP:rs2661487).		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGATTCTCGGCGTTTGGATG	0.438																																						uc003pah.1																			1	Substitution - coding silent(1)		lung(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11737-11739)CGC>CGA		fibrocystin isoform 1							286.0	273.0	277.0					6																	51491841		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51491841G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11739C>A	6.37:g.51491841G>T							p.R3913R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			66	12015	-	Lung NSC(77;0.0605)		3913			Cytoplasmic (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11739C>A	CCDS4935.1																																																																																				PASS	0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		64	103	64	103	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51909846	51909846	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:51909846G>C	ENST00000371117.3	-	25	2908	c.2633C>G	c.(2632-2634)gCc>gGc	p.A878G	PKHD1_ENST00000340994.4_Missense_Mutation_p.A878G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	878					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A878G(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACACGCGTGGCTGCAGCAGG	0.453																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(2632-2634)GCC>GGC		fibrocystin isoform 1							102.0	91.0	95.0					6																	51909846		2203	4299	6502	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51909846G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2633C>G	6.37:g.51909846G>C	ENSP00000360158:p.Ala878Gly					PKHD1_uc003pai.2_Missense_Mutation_p.A878G	p.A878G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			25	2909	-	Lung NSC(77;0.0605)		878			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2633C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	3.881	-0.025972	0.07589	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87029	-2.0;-2.2	5.25	3.31	0.37934	.	0.509864	0.20414	N	0.092805	T	0.56277	0.1974	N	0.08118	0	0.09310	N	1	B;B	0.29301	0.241;0.156	B;B	0.25140	0.058;0.026	T	0.52786	-0.8529	10	0.51188	T	0.08	.	8.5718	0.33574	0.0:0.144:0.5608:0.2952	.	878;878	P08F94-2;P08F94	.;PKHD1_HUMAN	G	878	ENSP00000360158:A878G;ENSP00000341097:A878G	ENSP00000341097:A878G	A	-	2	0	PKHD1	52017805	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	0.601000	0.24119	1.309000	0.44985	0.655000	0.94253	GCC		PASS	0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		32	34	32	34	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51936933	51936933	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:51936933T>C	ENST00000371117.3	-	8	857	c.582A>G	c.(580-582)atA>atG	p.I194M	PKHD1_ENST00000340994.4_Missense_Mutation_p.I194M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	194	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.I194M(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTGCCTATTTATAAGAGAGC	0.398																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(580-582)ATA>ATG		fibrocystin isoform 1							147.0	133.0	138.0					6																	51936933		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51936933T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.582A>G	6.37:g.51936933T>C	ENSP00000360158:p.Ile194Met					PKHD1_uc003pai.2_Missense_Mutation_p.I194M	p.I194M	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			8	858	-	Lung NSC(77;0.0605)		194			IPT/TIG 2.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.582A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437526	0.43224	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87412	-2.05;-2.25	5.55	3.09	0.35607	.	0.673330	0.14070	N	0.343407	T	0.67088	0.2856	L	0.40543	1.245	0.25067	N	0.991029	B;B	0.32526	0.374;0.257	B;B	0.35470	0.203;0.1	T	0.57195	-0.7853	10	0.33940	T	0.23	.	4.7326	0.12972	0.2944:0.0824:0.0:0.6232	.	194;194	P08F94-2;P08F94	.;PKHD1_HUMAN	M	194	ENSP00000360158:I194M;ENSP00000341097:I194M	ENSP00000341097:I194M	I	-	3	3	PKHD1	52044892	1.000000	0.71417	0.985000	0.45067	0.970000	0.65996	1.059000	0.30517	1.009000	0.39289	0.533000	0.62120	ATA		PASS	0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		34	56	34	56	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69759194	69759194	+	Silent	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:69759194C>T	ENST00000370598.1	+	15	3110	c.2289C>T	c.(2287-2289)ggC>ggT	p.G763G		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	763					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G763G(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGTTCTTGGCGCAGTCCTAT	0.274																																						uc003pev.3																			1	Substitution - coding silent(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2287-2289)GGC>GGT		brain-specific angiogenesis inhibitor 3							72.0	72.0	72.0					6																	69759194		2202	4297	6499	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69759194C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2289C>T	6.37:g.69759194C>T						BAI3_uc010kak.2_Silent_p.G763G	p.G763G	NM_001704	NP_001695	O60242	BAI3_HUMAN			15	2737	+		all_lung(197;0.212)	763			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.2289C>T	CCDS4968.1																																																																																				PASS	0.274	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			18	63	18	63	---	---	---	---
LCA5	167691	broad.mit.edu	37	6	80228525	80228525	+	Silent	SNP	C	C	T	rs369647371		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:80228525C>T	ENST00000392959.1	-	3	698	c.87G>A	c.(85-87)acG>acA	p.T29T	LCA5_ENST00000467898.3_Silent_p.T29T|LCA5_ENST00000369846.4_Silent_p.T29T	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	29					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.T29T(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AAGACTGTGGCGTTTCAAAAT	0.423																																						uc003pix.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(85-87)ACG>ACA		Leber congenital amaurosis 5		C	,	1,4405	2.1+/-5.4	0,1,2202	296.0	277.0	284.0		87,87	1.2	0.4	6		284	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LCA5	NM_001122769.2,NM_181714.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	29/698,29/698	80228525	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80228525C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.87G>A	6.37:g.80228525C>T						LCA5_uc003piy.2_Silent_p.T29T|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Silent_p.T29T	p.T29T	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	2	522	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	29					E1P542|Q9BWX7	Silent	SNP	ENST00000392959.1	37	c.87G>A	CCDS4990.1																																																																																				PASS	0.423	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		94	170	94	170	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84862712	84862712	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:84862712C>T	ENST00000403245.3	-	23	3295	c.3181G>A	c.(3181-3183)Gtc>Atc	p.V1061I	KIAA1009_ENST00000257766.4_Missense_Mutation_p.V985I|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.V1061I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTTTCTTGACGTCTAATTCA	0.368																																						uc010kbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3181-3183)GTC>ATC		KIAA1009 protein							126.0	119.0	122.0					6																	84862712		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84862712C>T																												ENST00000403245.3:c.3181G>A	6.37:g.84862712C>T	ENSP00000385215:p.Val1061Ile					KIAA1009_uc003pkj.3_Missense_Mutation_p.V985I|KIAA1009_uc003pki.3_Missense_Mutation_p.V447I	p.V1061I	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	23	3278	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	1061			Potential.			Missense_Mutation	SNP	ENST00000403245.3	37	c.3181G>A	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	6.715	0.500674	0.12822	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.16196	2.36;2.36	4.86	2.1	0.27182	.	0.598747	0.15880	N	0.240104	T	0.02193	0.0068	N	0.08118	0	0.19300	N	0.999972	B	0.24920	0.114	B	0.14023	0.01	T	0.44651	-0.9314	10	0.35671	T	0.21	3.4885	6.8375	0.23945	0.1602:0.1501:0.6897:0.0	.	1061	Q5TB80	QN1_HUMAN	I	985;1061	ENSP00000257766:V985I;ENSP00000385215:V1061I	ENSP00000257766:V985I	V	-	1	0	KIAA1009	84919431	0.996000	0.38824	0.437000	0.26809	0.637000	0.38172	1.912000	0.39946	0.207000	0.20607	-0.515000	0.04445	GTC		PASS	0.368	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			37	58	37	58	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	100988080	100988080	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:100988080C>G	ENST00000369162.2	-	37	6078	c.5734G>C	c.(5734-5736)Gat>Cat	p.D1912H		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1912	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.D1912H(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTTTGGTATCAGTGTCATAA	0.453																																						uc003pqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(5734-5736)GAT>CAT		activating signal cointegrator 1 complex subunit							196.0	170.0	179.0					6																	100988080		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:100988080C>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5734G>C	6.37:g.100988080C>G	ENSP00000358159:p.Asp1912His						p.D1912H	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	37	6063	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1912			SEC63 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5734G>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770951	0.90108	.	.	ENSG00000112249	ENST00000369162	T	0.80994	-1.44	5.7	5.7	0.88788	Sec63 domain (3);	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94227	0.7473	10	0.87932	D	0	.	19.8218	0.96599	0.0:1.0:0.0:0.0	.	1912	Q8N3C0	HELC1_HUMAN	H	1912	ENSP00000358159:D1912H	ENSP00000358159:D1912H	D	-	1	0	ASCC3	101094801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.073000	0.76784	2.678000	0.91216	0.655000	0.94253	GAT		PASS	0.453	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		36	51	36	51	---	---	---	---
DDO	8528	broad.mit.edu	37	6	110734551	110734551	+	Missense_Mutation	SNP	T	T	G	rs375007187		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:110734551T>G	ENST00000368924.3	-	2	214	c.199A>C	c.(199-201)Act>Cct	p.T67P	DDO_ENST00000368923.3_Missense_Mutation_p.T67P	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	39					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.T67P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTATCTGGAGTAAACTTGTCT	0.507																																						uc003puc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(199-201)ACT>CCT		D-aspartate oxidase isoform a							147.0	129.0	135.0					6																	110734551		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110734551T>G	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.199A>C	6.37:g.110734551T>G	ENSP00000357920:p.Thr67Pro					C6orf186_uc003pub.2_5'Flank|DDO_uc003pud.2_Missense_Mutation_p.T67P	p.T67P	NM_003649	NP_003640	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	2	203	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	39					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.199A>C	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805324	0.50315	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;T;T	0.80123	-1.34;-1.34;-1.34	5.45	2.96	0.34315	.	0.422436	0.27214	N	0.020387	T	0.62097	0.2400	L	0.35542	1.07	0.09310	N	1	D;D	0.89917	1.0;0.997	D;D	0.69824	0.966;0.928	T	0.59139	-0.7510	10	0.05351	T	0.99	-11.0213	5.3383	0.15969	0.2717:0.074:0.0:0.6544	.	67;67	Q99489-4;Q99489-3	.;.	P	67;67;39	ENSP00000357920:T67P;ENSP00000357919:T67P;ENSP00000357921:T39P	ENSP00000357919:T67P	T	-	1	0	DDO	110841244	1.000000	0.71417	0.030000	0.17652	0.006000	0.05464	1.536000	0.36072	0.324000	0.23333	-0.441000	0.05720	ACT		PASS	0.507	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			67	112	67	112	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123377054	123377054	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:123377054C>T	ENST00000275162.5	+	5	2114	c.779C>T	c.(778-780)aCa>aTa	p.T260I	CLVS2_ENST00000368438.1_Missense_Mutation_p.T114I	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	260					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.T260I(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GACATGGGGACATGGGCAAGA	0.468																																						uc003pzi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(778-780)ACA>ATA		retinaldehyde binding protein 1-like 2							170.0	138.0	149.0					6																	123377054		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123377054C>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.779C>T	6.37:g.123377054C>T	ENSP00000275162:p.Thr260Ile						p.T260I	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			5	1648	+			260					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.779C>T	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917194	0.52546	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.84516	-1.86;-1.86	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63976	-0.6515	10	0.49607	T	0.09	-16.9667	20.2983	0.98569	0.0:1.0:0.0:0.0	.	260	Q5SYC1	CLVS2_HUMAN	I	260;114	ENSP00000275162:T260I;ENSP00000357423:T114I	ENSP00000275162:T260I	T	+	2	0	CLVS2	123418753	1.000000	0.71417	0.645000	0.29479	0.974000	0.67602	5.503000	0.66962	2.802000	0.96397	0.655000	0.94253	ACA		PASS	0.468	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		41	72	41	72	---	---	---	---
MED23	9439	broad.mit.edu	37	6	131912582	131912582	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:131912582T>A	ENST00000368068.3	-	26	3736	c.3557A>T	c.(3556-3558)tAt>tTt	p.Y1186F	MED23_ENST00000354577.4_Missense_Mutation_p.Y1192F|MED23_ENST00000403834.3_Missense_Mutation_p.Y1192F|MED23_ENST00000545957.1_Missense_Mutation_p.Y827F|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Missense_Mutation_p.Y1192F|MED23_ENST00000368060.3_Missense_Mutation_p.Y1186F	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1186					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.Y1192F(1)|p.Y1186F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCGGAATGGATAGCCAACCCA	0.468																																						uc003qcs.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3556-3558)TAT>TTT		mediator complex subunit 23 isoform a							123.0	107.0	112.0					6																	131912582		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131912582T>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3557A>T	6.37:g.131912582T>A	ENSP00000357047:p.Tyr1186Phe					MED23_uc003qcq.2_Missense_Mutation_p.Y1192F|MED23_uc003qcr.1_Missense_Mutation_p.Y41F	p.Y1186F	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	26	3731	-	Breast(56;0.0753)		1186					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.3557A>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074909	0.76415	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.29908	0.895	0.80722	D	1	D;P	0.53312	0.959;0.95	P;B	0.46208	0.507;0.373	T	0.61362	-0.7078	10	0.17832	T	0.49	-19.9022	15.8533	0.78952	0.0:0.0:0.0:1.0	.	1186;1192	Q9ULK4;Q9ULK4-3	MED23_HUMAN;.	F	1192;1186;1192;1186;1192;827	ENSP00000346588:Y1192F;ENSP00000357047:Y1186F;ENSP00000384536:Y1192F;ENSP00000357039:Y1186F;ENSP00000357037:Y1192F;ENSP00000439977:Y827F	ENSP00000346588:Y1192F	Y	-	2	0	MED23	131954275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.956000	0.63645	2.147000	0.66899	0.460000	0.39030	TAT		PASS	0.468	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			36	54	36	54	---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132910358	132910358	+	Silent	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:132910358C>A	ENST00000258034.2	-	1	519	c.468G>T	c.(466-468)ctG>ctT	p.L156L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	156					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.L156L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CCCATCCTGCCAGGATGTACC	0.547																																						uc003qdk.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(466-468)CTG>CTT		trace amine associated receptor 5							78.0	80.0	80.0					6																	132910358		2203	4300	6503	SO:0001819	synonymous_variant	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910358C>A	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.468G>T	6.37:g.132910358C>A							p.L156L	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	520	-	Breast(56;0.112)		156			Helical; Name=4; (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	c.468G>T	CCDS5156.1																																																																																				PASS	0.547	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		29	48	29	48	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133783797	133783797	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:133783797G>C	ENST00000367895.5	+	9	1083	c.619G>C	c.(619-621)Gga>Cga	p.G207R	EYA4_ENST00000355167.3_Missense_Mutation_p.G207R|EYA4_ENST00000355286.6_Missense_Mutation_p.G184R|EYA4_ENST00000525849.1_Missense_Mutation_p.G184R|EYA4_ENST00000531901.1_Missense_Mutation_p.G207R|EYA4_ENST00000431403.2_Missense_Mutation_p.G207R|EYA4_ENST00000452339.2_Missense_Mutation_p.G153R|EYA4_ENST00000430974.2_Missense_Mutation_p.G153R	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	207					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.G207R(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GACAGAGAGTGGACTTTCCCA	0.438																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(619-621)GGA>CGA		eyes absent 4 isoform a							97.0	91.0	93.0					6																	133783797		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783797G>C	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.619G>C	6.37:g.133783797G>C	ENSP00000356870:p.Gly207Arg					EYA4_uc011ecq.1_Missense_Mutation_p.G153R|EYA4_uc011ecr.1_Missense_Mutation_p.G153R|EYA4_uc003qed.3_Missense_Mutation_p.G207R|EYA4_uc003qee.3_Missense_Mutation_p.G184R|EYA4_uc011ecs.1_Missense_Mutation_p.G207R|uc003qef.1_Intron	p.G207R	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	9	1077	+	Colorectal(23;0.221)		207					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.619G>C	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931039	0.92389	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.91945	-2.81;-2.74;-2.93;-2.93;-2.94;-2.91;-2.94;-2.93	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95172	0.8435	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.998;1.0;1.0	D;D;D;D;D;D	0.97110	0.991;0.994;0.931;0.962;0.997;1.0	D	0.95126	0.8251	10	0.72032	D	0.01	-11.9199	19.6818	0.95967	0.0:0.0:1.0:0.0	.	207;153;153;184;207;207	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	R	153;153;207;207;184;207;184;207	ENSP00000395916:G153R;ENSP00000388670:G153R;ENSP00000356870:G207R;ENSP00000347294:G207R;ENSP00000347434:G184R;ENSP00000432770:G207R;ENSP00000433219:G184R;ENSP00000404558:G207R	ENSP00000347294:G207R	G	+	1	0	EYA4	133825490	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.630000	0.83225	2.644000	0.89710	0.650000	0.86243	GGA		PASS	0.438	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		34	53	34	53	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152576052	152576052	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr6:152576052T>A	ENST00000367255.5	-	104	20034	c.19433A>T	c.(19432-19434)cAg>cTg	p.Q6478L	SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6407L|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6090L|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6478L|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6407L|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1002L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6478					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q6478L(2)|p.Q6407L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTTCATCTGATGACATCG	0.373										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(19432-19434)CAG>CTG		spectrin repeat containing, nuclear envelope 1							93.0	84.0	87.0					6																	152576052		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152576052T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19433A>T	6.37:g.152576052T>A	ENSP00000356224:p.Gln6478Leu	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.Q1002L|SYNE1_uc003qos.3_Missense_Mutation_p.Q1002L|SYNE1_uc003qot.3_Missense_Mutation_p.Q6407L|SYNE1_uc003qou.3_Missense_Mutation_p.Q6478L	p.Q6478L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	104	20035	-		Ovarian(120;0.0955)	6478			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19433A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362429	0.61403	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56103	0.57;0.56;0.48;0.56;0.69;2.59	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000023	T	0.44201	0.1282	M	0.63428	1.95	0.45662	D	0.998587	P;P;P	0.43094	0.565;0.565;0.799	B;B;P	0.44990	0.276;0.276;0.466	T	0.37709	-0.9694	10	0.23891	T	0.37	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	6478;6478;6407	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	L	6478;6407;6478;6407;6090;1002	ENSP00000356224:Q6478L;ENSP00000396024:Q6407L;ENSP00000265368:Q6478L;ENSP00000390975:Q6407L;ENSP00000341887:Q6090L;ENSP00000349276:Q1002L	ENSP00000265368:Q6478L	Q	-	2	0	SYNE1	152617745	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.391000	0.59652	2.201000	0.70794	0.533000	0.62120	CAG		PASS	0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	40	9	40	---	---	---	---
FBXL18	80028	broad.mit.edu	37	7	5540470	5540470	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:5540470G>A	ENST00000382368.3	-	3	1553	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F	FBXL18_ENST00000453700.3_Missense_Mutation_p.S477F	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	477								p.S477F(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTTCAGCAGAGACCAGAACAC	0.657																																						uc003soo.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1429-1431)TCT>TTT		F-box and leucine-rich repeat protein 18							13.0	16.0	15.0					7																	5540470		2054	4110	6164	SO:0001583	missense	80028							g.chr7:5540470G>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1430C>T	7.37:g.5540470G>A	ENSP00000371805:p.Ser477Phe					FBXL18_uc003son.3_Missense_Mutation_p.S477F	p.S477F	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1524	-		Ovarian(82;0.0607)	477			LRR 8.		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1430C>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.22|12.22	1.872723|1.872723	0.33069|0.33069	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.01005	.|5.45;5.45	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.468735	.|0.23893	.|N	.|0.043534	T|T	0.00875|0.00875	0.0029|0.0029	N|N	0.14661|0.14661	0.345|0.345	0.26298|0.26298	N|N	0.978017|0.978017	.|P;B	.|0.44380	.|0.834;0.302	.|B;B	.|0.42282	.|0.382;0.103	T|T	0.57980|0.57980	-0.7717|-0.7717	5|10	.|0.51188	.|T	.|0.08	.|.	8.6399|8.6399	0.33970|0.33970	0.0796:0.0:0.7688:0.1517|0.0796:0.0:0.7688:0.1517	.|.	.|477;477	.|F5H4Z4;Q96ME1-4	.|.;.	F|F	361|477	.|ENSP00000371805:S477F;ENSP00000444797:S477F	.|ENSP00000311990:S477F	L|S	-|-	1|2	0|0	FBXL18|FBXL18	5506996|5506996	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.434000|1.434000	0.34958|0.34958	2.628000|2.628000	0.89032|0.89032	0.585000|0.585000	0.79938|0.79938	CTC|TCT		PASS	0.657	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		16	30	16	30	---	---	---	---
HERPUD2	64224	broad.mit.edu	37	7	35673301	35673301	+	Nonstop_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:35673301C>A	ENST00000396081.1	-	8	2024	c.1220G>T	c.(1219-1221)tGa>tTa	p.*407L	HERPUD2_ENST00000426180.1_5'Flank|HERPUD2_ENST00000311350.3_Nonstop_Mutation_p.*407L	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	0					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.*407L(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TTTTTCAGGTCAATTGGCAAC	0.408																																						uc003tet.2																			1	Nonstop extension(1)		lung(1)	ovary(3)	3						c.(1219-1221)TGA>TTA		HERPUD family member 2							89.0	94.0	92.0					7																	35673301		2203	4300	6503	SO:0001578	stop_lost	64224				response to unfolded protein	integral to membrane		g.chr7:35673301C>A	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.1220G>T	7.37:g.35673301C>A						HERPUD2_uc003tes.3_Nonstop_Mutation_p.*407L	p.*407L	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			8	2025	-			407					A4D1Y8|Q9H6F9	Nonstop_Mutation	SNP	ENST00000396081.1	37	c.1220G>T	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.306988	0.60305	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7834	0.46390	0.0:0.8854:0.0:0.1146	.	.	.	.	L	407	.	.	X	-	2	2	HERPUD2	35639826	0.972000	0.33761	0.997000	0.53966	0.912000	0.54170	0.987000	0.29603	2.660000	0.90430	0.557000	0.71058	TGA		PASS	0.408	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		42	84	42	84	---	---	---	---
KIAA0895	23366	broad.mit.edu	37	7	36373699	36373699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:36373699C>A	ENST00000297063.6	-	5	1122	c.1072G>T	c.(1072-1074)Gag>Tag	p.E358*	KIAA0895_ENST00000317020.6_Nonsense_Mutation_p.E307*|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000440378.1_Nonsense_Mutation_p.E355*|KIAA0895_ENST00000436884.1_Nonsense_Mutation_p.E255*|KIAA0895_ENST00000453212.1_Nonsense_Mutation_p.E113*|KIAA0895_ENST00000338533.5_Nonsense_Mutation_p.E345*	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	358								p.E345*(1)|p.E358*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGCTTTAGCTCATGTTTTTTA	0.413																																						uc003tfd.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1072-1074)GAG>TAG		hypothetical protein LOC23366 isoform 1							166.0	152.0	157.0					7																	36373699		1923	4129	6052	SO:0001587	stop_gained	23366							g.chr7:36373699C>A	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1072G>T	7.37:g.36373699C>A	ENSP00000297063:p.Glu358*					KIAA0895_uc003tfc.2_Nonsense_Mutation_p.E345*|KIAA0895_uc011kaw.1_Nonsense_Mutation_p.E255*|KIAA0895_uc003tfb.2_Nonsense_Mutation_p.E307*|KIAA0895_uc011kax.1_Nonsense_Mutation_p.E355*	p.E358*	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN			5	1123	-			358					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Nonsense_Mutation	SNP	ENST00000297063.6	37	c.1072G>T	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	38	6.930869	0.97944	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	4.77	4.77	0.60923	.	0.216296	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-5.6463	18.1516	0.89676	0.0:1.0:0.0:0.0	.	.	.	.	X	358;345;307;355;255;113	.	ENSP00000297063:E358X	E	-	1	0	KIAA0895	36340224	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.274000	0.43390	2.371000	0.80710	0.650000	0.86243	GAG		PASS	0.413	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		28	74	28	74	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87190661	87190661	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:87190661T>C	ENST00000265724.3	-	9	1162	c.745A>G	c.(745-747)Aaa>Gaa	p.K249E	ABCB1_ENST00000543898.1_Missense_Mutation_p.K185E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	249	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.K249E(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCTCCAGCTTTTGCATACGCT	0.318																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(745-747)AAA>GAA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						69.0	68.0	69.0					7																	87190661		2202	4300	6502	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87190661T>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.745A>G	7.37:g.87190661T>C	ENSP00000265724:p.Lys249Glu					ABCB1_uc011khc.1_Missense_Mutation_p.K185E	p.K249E	NM_000927	NP_000918	P08183	MDR1_HUMAN			9	1163	-	Esophageal squamous(14;0.00164)		249			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.745A>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896913	0.72639	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90004	-2.6;-2.6	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92437	0.7599	L	0.49778	1.585	0.80722	D	1	P;D	0.65815	0.886;0.995	B;D	0.70227	0.065;0.968	D	0.92358	0.5895	10	0.48119	T	0.1	-28.1085	16.0292	0.80564	0.0:0.0:0.0:1.0	.	185;249	B5AK60;P08183	.;MDR1_HUMAN	E	30;249;185	ENSP00000265724:K249E;ENSP00000444095:K185E	ENSP00000265724:K249E	K	-	1	0	ABCB1	87028597	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.499000	0.81566	2.187000	0.69744	0.533000	0.62120	AAA		PASS	0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		30	39	30	39	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92027579	92027579	+	Silent	SNP	A	A	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:92027579A>G	ENST00000265742.3	+	20	2962	c.2586A>G	c.(2584-2586)ttA>ttG	p.L862L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	862							zinc ion binding (GO:0008270)	p.L862L(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAATACAGTTATCACTGCAAG	0.428																																						uc003ulw.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(2584-2586)TTA>TTG		ankyrin repeat and IBR domain containing 1							66.0	64.0	64.0					7																	92027579		1879	4124	6003	SO:0001819	synonymous_variant	54467						protein binding|zinc ion binding	g.chr7:92027579A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2586A>G	7.37:g.92027579A>G						ANKIB1_uc010lew.1_Silent_p.L131L	p.L862L	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	2962	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		862			UIM.		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	c.2586A>G	CCDS47639.1																																																																																				PASS	0.428	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			30	48	30	48	---	---	---	---
VGF	7425	broad.mit.edu	37	7	100807457	100807457	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:100807457A>C	ENST00000249330.2	-	2	907	c.668T>G	c.(667-669)cTg>cGg	p.L223R	VGF_ENST00000445482.2_Missense_Mutation_p.L223R	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	223					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.L223R(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					cgggggcggcaggggcgcgcg	0.692																																						uc003uxx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)CTG>CGG		VGF nerve growth factor inducible precursor							7.0	10.0	9.0					7																	100807457		2107	4155	6262	SO:0001583	missense	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100807457A>C	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.668T>G	7.37:g.100807457A>C	ENSP00000249330:p.Leu223Arg						p.L223R	NM_003378	NP_003369	O15240	VGF_HUMAN			2	886	-	Lung NSC(181;0.168)|all_lung(186;0.215)		223					Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	37	c.668T>G	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118966	0.37436	.	.	ENSG00000128564	ENST00000249330;ENST00000448792;ENST00000445482	.	.	.	4.18	3.01	0.34805	.	0.000000	0.38492	N	0.001671	T	0.18173	0.0436	N	0.14661	0.345	0.32012	N	0.601939	P	0.40476	0.718	B	0.37888	0.26	T	0.14062	-1.0486	9	0.56958	D	0.05	-7.7167	4.911	0.13821	0.8564:0.0:0.1436:0.0	.	223	O15240	VGF_HUMAN	R	223	.	ENSP00000249330:L223R	L	-	2	0	VGF	100594177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.546000	0.36179	1.774000	0.52232	0.459000	0.35465	CTG		PASS	0.692	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		17	25	17	25	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114298204	114298204	+	Silent	SNP	A	A	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:114298204A>T	ENST00000393494.2	+	11	1629	c.1350A>T	c.(1348-1350)ccA>ccT	p.P450P	FOXP2_ENST00000350908.4_Silent_p.P450P|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Silent_p.P358P|FOXP2_ENST00000403559.4_Silent_p.P467P|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Silent_p.P429P|FOXP2_ENST00000408937.3_Silent_p.P475P			O15409	FOXP2_HUMAN	forkhead box P2	450					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P475P(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTACCACACCAACGGCCCCAG	0.532																																						uc003vhb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1348-1350)CCA>CCT		forkhead box P2 isoform I							129.0	123.0	125.0					7																	114298204		2203	4300	6503	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114298204A>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1350A>T	7.37:g.114298204A>T						FOXP2_uc003vgu.2_Intron|FOXP2_uc003vgz.2_Silent_p.P475P|FOXP2_uc003vha.2_Silent_p.P358P|FOXP2_uc011kmu.1_Silent_p.P467P|FOXP2_uc011kmv.1_Silent_p.P449P|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vhe.1_Silent_p.P20P	p.P450P	NM_014491	NP_055306	O15409	FOXP2_HUMAN			11	1724	+			450					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.1350A>T	CCDS5760.1																																																																																				PASS	0.532	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		56	76	56	76	---	---	---	---
WNT16	51384	broad.mit.edu	37	7	120969747	120969747	+	Silent	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:120969747C>G	ENST00000222462.2	+	2	512	c.222C>G	c.(220-222)gcC>gcG	p.A74A	WNT16_ENST00000361301.2_Silent_p.A64A	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	74					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.A64A(1)|p.A74A(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GAGAGGGCGCCCGGCTGGGCA	0.652																																						uc003vjw.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(2)|large_intestine(1)	5						c.(220-222)GCC>GCG		wingless-type MMTV integration site family,							35.0	41.0	39.0					7																	120969747		2203	4300	6503	SO:0001819	synonymous_variant	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120969747C>G	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.222C>G	7.37:g.120969747C>G						WNT16_uc003vjv.2_Silent_p.A64A|WNT16_uc010lkl.2_5'UTR	p.A74A	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN			2	479	+	all_neural(327;0.117)		74					Q2M3G1|Q9Y5C0	Silent	SNP	ENST00000222462.2	37	c.222C>G	CCDS5781.1																																																																																				PASS	0.652	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		28	50	28	50	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121653575	121653575	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:121653575C>T	ENST00000393386.2	+	12	4886	c.4475C>T	c.(4474-4476)tCa>tTa	p.S1492L	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1492					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1492L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTGTATCCTCAGACAGTCAA	0.398																																						uc003vjy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(4474-4476)TCA>TTA		protein tyrosine phosphatase, receptor-type,							86.0	83.0	84.0					7																	121653575		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121653575C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4475C>T	7.37:g.121653575C>T	ENSP00000377047:p.Ser1492Leu					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.S1492L	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	4870	+			1492			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4475C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238108	0.58886	.	.	ENSG00000106278	ENST00000393386	T	0.47528	0.84	5.08	5.08	0.68730	.	0.394960	0.21547	N	0.072794	T	0.42381	0.1200	L	0.38531	1.155	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20371	-1.0277	10	0.39692	T	0.17	.	18.838	0.92171	0.0:1.0:0.0:0.0	.	1492	P23471	PTPRZ_HUMAN	L	1492	ENSP00000377047:S1492L	ENSP00000377047:S1492L	S	+	2	0	PTPRZ1	121440811	0.969000	0.33509	0.899000	0.35326	0.964000	0.63967	2.003000	0.40844	2.517000	0.84864	0.650000	0.86243	TCA		PASS	0.398	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		22	33	22	33	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747882	143747882	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:143747882C>A	ENST00000408906.2	+	1	422	c.388C>A	c.(388-390)Ctg>Atg	p.L130M		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L130M(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGCCACCCTCTGCAATATTC	0.488																																						uc011ktw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(388-390)CTG>ATG		olfactory receptor, family 2, subfamily A,							182.0	187.0	186.0					7																	143747882		2128	4244	6372	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747882C>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.388C>A	7.37:g.143747882C>A	ENSP00000386208:p.Leu130Met						p.L130M	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	388	+	Melanoma(164;0.0783)		130			Cytoplasmic (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.388C>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264723	0.40095	.	.	ENSG00000221836	ENST00000408906	T	0.01359	4.98	5.25	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26875	U	0.022042	T	0.10809	0.0264	H	0.94925	3.6	0.29827	N	0.830341	D	0.89917	1.0	D	0.73380	0.98	T	0.04140	-1.0974	10	0.87932	D	0	.	8.8371	0.35119	0.0:0.8173:0.0:0.1827	.	130	Q96R48	OR2A5_HUMAN	M	130	ENSP00000386208:L130M	ENSP00000386208:L130M	L	+	1	2	OR2A5	143378815	0.062000	0.20869	0.045000	0.18777	0.493000	0.33554	0.516000	0.22817	0.773000	0.33404	0.557000	0.71058	CTG		PASS	0.488	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			89	130	89	130	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158719682	158719682	+	Splice_Site	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr7:158719682G>A	ENST00000407559.3	+	20	2591		c.e20-1			NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60						cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.?(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCTGTTTTTAGGTGGTTGTTG	0.279																																						uc003woe.3																			1	Unknown(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.e20-1		WD repeat domain 60							80.0	69.0	72.0					7																	158719682		1803	4065	5868	SO:0001630	splice_region_variant	55112							g.chr7:158719682G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2434-1G>A	7.37:g.158719682G>A						WDR60_uc010lqv.2_Splice_Site|WDR60_uc010lqw.2_Splice_Site_p.V444_splice	p.V812_splice	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	20	2592	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)						Q9NW58	Splice_Site	SNP	ENST00000407559.3	37	c.2434_splice	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148663	0.57151	.	.	ENSG00000126870	ENST00000407559	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2341	0.89944	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR60	158412443	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.663000	0.83820	2.551000	0.86045	0.655000	0.94253	.		PASS	0.279	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051	Intron	10	16	10	16	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1616589	1616589	+	Silent	SNP	C	C	A	rs542362008	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:1616589C>A	ENST00000421627.2	+	6	1799	c.1665C>A	c.(1663-1665)acC>acA	p.T555T		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	634					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.T577T(1)|p.T599T(1)		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)		AGAGCAGCACCGAATCCACCC	0.622																																						uc003wpl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1663-1665)ACC>ACA		discs large-associated protein 2							13.0	18.0	17.0					8																	1616589		2039	4177	6216	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1616589C>A	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.1665C>A	8.37:g.1616589C>A						DLGAP2_uc003wpm.2_Silent_p.T555T	p.T555T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	6	1762	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	634					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.1665C>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	9.001	0.980101	0.18812	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.31358	0.0794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39921	-0.9590	4	.	.	.	-17.1221	1.8246	0.03118	0.3056:0.1115:0.3452:0.2377	.	.	.	.	Q	572	.	.	P	+	2	0	DLGAP2	1603996	0.000000	0.05858	0.195000	0.23364	0.976000	0.68499	-3.780000	0.00368	-2.614000	0.00443	-0.955000	0.02649	CCG		PASS	0.622	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		7	12	7	12	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468059	10468059	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:10468059G>A	ENST00000382483.3	-	4	3772	c.3549C>T	c.(3547-3549)gaC>gaT	p.D1183D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1183					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.D1183D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGACCCAAGGTCTGGCAGAG	0.612																																						uc003wtc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3547-3549)GAC>GAT		retinitis pigmentosa 1-like 1							47.0	52.0	50.0					8																	10468059		2117	4241	6358	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10468059G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3549C>T	8.37:g.10468059G>A							p.D1183D	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3778	-			1183					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.3549C>T	CCDS43708.1																																																																																				PASS	0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			20	36	20	36	---	---	---	---
DMTN	2039	broad.mit.edu	37	8	21937956	21937956	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:21937956G>C	ENST00000523266.1	+	12	1396	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	DMTN_ENST00000415253.1_Missense_Mutation_p.E312Q|DMTN_ENST00000517600.1_Missense_Mutation_p.E272Q|DMTN_ENST00000523782.2_Missense_Mutation_p.E287Q|DMTN_ENST00000358242.3_Missense_Mutation_p.E312Q|DMTN_ENST00000519907.1_Missense_Mutation_p.E312Q|DMTN_ENST00000381470.3_Missense_Mutation_p.E312Q|DMTN_ENST00000432128.1_Missense_Mutation_p.E312Q|DMTN_ENST00000265800.5_Missense_Mutation_p.E312Q|DMTN_ENST00000443491.2_Missense_Mutation_p.E287Q	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	312					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)	p.E312Q(1)									ATCAGGGAGTGAGACTGGAAG	0.607																																						uc011kyt.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(934-936)GAG>CAG		erythrocyte membrane protein band 4.9 isoform 1							80.0	88.0	85.0					8																	21937956		2203	4300	6503	SO:0001583	missense	2039				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	g.chr8:21937956G>C	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.934G>C	8.37:g.21937956G>C	ENSP00000427866:p.Glu312Gln					EPB49_uc010ltl.2_Missense_Mutation_p.E312Q|EPB49_uc011kys.1_Missense_Mutation_p.E272Q|EPB49_uc010ltn.2_Missense_Mutation_p.E287Q|EPB49_uc011kyu.1_Missense_Mutation_p.E312Q|EPB49_uc011kyv.1_Missense_Mutation_p.E312Q|EPB49_uc010ltq.2_Missense_Mutation_p.E312Q	p.E312Q	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN		Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)	12	1163	+			312					A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.934G>C	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.570021	0.28003	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T	0.44083	1.5;1.52;1.51;0.93;1.52;1.52;1.5;1.52;1.5	4.27	4.27	0.50696	.	1.366250	0.04768	N	0.427513	T	0.39226	0.1070	L	0.29908	0.895	0.29651	N	0.843932	D;B;B;B;B;B	0.53151	0.958;0.321;0.321;0.181;0.181;0.241	P;B;B;B;B;B	0.45276	0.475;0.177;0.177;0.134;0.092;0.249	T	0.24012	-1.0172	10	0.28530	T	0.3	.	12.0461	0.53480	0.0:0.0:1.0:0.0	.	251;272;312;287;287;312	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	Q	312;312;287;272;272;312;251;312;312;312;312	ENSP00000370879:E312Q;ENSP00000416111:E312Q;ENSP00000397904:E287Q;ENSP00000430618:E272Q;ENSP00000265800:E312Q;ENSP00000350977:E312Q;ENSP00000401291:E312Q;ENSP00000427866:E312Q;ENSP00000429377:E312Q	ENSP00000265800:E312Q	E	+	1	0	EPB49	21993902	1.000000	0.71417	0.967000	0.41034	0.984000	0.73092	5.527000	0.67123	2.227000	0.72691	0.455000	0.32223	GAG		PASS	0.607	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		38	83	38	83	---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22414364	22414364	+	Silent	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:22414364C>T	ENST00000240123.7	+	4	740	c.357C>T	c.(355-357)gtC>gtT	p.V119V	SORBS3_ENST00000523402.1_Silent_p.V119V	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	119	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.V119V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGCGCTGGGTCAAGTACGAGG	0.657																																						uc003xbv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(355-357)GTC>GTT		sorbin and SH3 domain containing 3 isoform 1							80.0	73.0	75.0					8																	22414364		2203	4300	6503	SO:0001819	synonymous_variant	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22414364C>T		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.357C>T	8.37:g.22414364C>T						SORBS3_uc011kzk.1_RNA	p.V119V	NM_005775	NP_005766	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	4	697	+		Prostate(55;0.0421)|Breast(100;0.102)	119			SoHo.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	c.357C>T	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469661	0.26423	.	.	ENSG00000120896	ENST00000520563;ENST00000524057	.	.	.	4.88	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.5408	12.9456	0.58371	0.0:0.4987:0.5013:0.0	.	.	.	.	X	74;56	.	.	Q	+	1	0	SORBS3	22470309	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.596000	0.36718	0.419000	0.25927	-0.182000	0.12963	CAA		PASS	0.657	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		23	33	23	33	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67476961	67476961	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:67476961T>C	ENST00000522677.3	-	16	2640	c.2230A>G	c.(2230-2232)Agt>Ggt	p.S744G	MYBL1_ENST00000524176.2_Missense_Mutation_p.S684G|MYBL1_ENST00000517885.1_Missense_Mutation_p.S402G|MYBL1_ENST00000522419.1_5'Flank	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	744					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	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.S744G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GAAGTACTACTGGTAGCTGTG	0.373																																						uc003xwj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2230-2232)AGT>GGT		v-myb myeloblastosis viral oncogene homolog							127.0	126.0	126.0					8																	67476961		1877	4087	5964	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67476961T>C	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.2230A>G	8.37:g.67476961T>C	ENSP00000429633:p.Ser744Gly					MYBL1_uc003xwl.2_Missense_Mutation_p.S684G|MYBL1_uc003xwk.2_Missense_Mutation_p.S683G	p.S744G	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		16	2637	-			744					E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.2230A>G	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	T	8.338	0.828010	0.16749	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.19532	2.58;2.14;2.17	5.21	3.99	0.46301	.	0.212653	0.49916	N	0.000131	T	0.09730	0.0239	N	0.08118	0	0.26157	N	0.980053	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30650	-0.9971	10	0.20046	T	0.44	-3.7457	8.7838	0.34807	0.0:0.1618:0.0:0.8382	.	684;683;744	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	G	744;402;684	ENSP00000429633:S744G;ENSP00000428265:S402G;ENSP00000428011:S684G	ENSP00000428265:S402G	S	-	1	0	MYBL1	67639515	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.796000	0.38794	0.747000	0.32809	0.482000	0.46254	AGT		PASS	0.373	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		7	10	7	10	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767214	77767214	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:77767214C>G	ENST00000521891.2	+	10	8505	c.8057C>G	c.(8056-8058)gCa>gGa	p.A2686G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2660G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2641G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2641G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A2670G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGTTTAAAGCAAAGTCGGCC	0.537										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7921-7923)GCA>GGA		zinc finger homeodomain 4							55.0	55.0	55.0					8																	77767214		1947	4137	6084	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767214C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8057C>G	8.37:g.77767214C>G	ENSP00000430497:p.Ala2686Gly	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.A2686G|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2641G	p.A2641G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8309	+			2641			C2H2-type 17.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7922C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836289	0.32421	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.44097	U	0.000484	T	0.51346	0.1669	L	0.50333	1.59	0.80722	D	1	D;D;D	0.56746	0.977;0.971;0.971	D;D;D	0.71656	0.974;0.956;0.97	T	0.47005	-0.9150	10	0.54805	T	0.06	.	18.8803	0.92353	0.0:1.0:0.0:0.0	.	2641;2641;2686	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	G	2686;2670;2641;2641;2660	ENSP00000430497:A2686G;ENSP00000399605:A2641G;ENSP00000050961:A2641G;ENSP00000430848:A2660G	ENSP00000050961:A2641G	A	+	2	0	ZFHX4	77929769	1.000000	0.71417	0.850000	0.33497	0.014000	0.08584	7.651000	0.83577	2.695000	0.91970	0.555000	0.69702	GCA		PASS	0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		33	72	33	72	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767221	77767221	+	Silent	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:77767221G>T	ENST00000521891.2	+	10	8512	c.8064G>T	c.(8062-8064)tcG>tcT	p.S2688S	ZFHX4_ENST00000518282.1_Silent_p.S2662S|ZFHX4_ENST00000050961.6_Silent_p.S2643S|ZFHX4_ENST00000455469.2_Silent_p.S2643S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S2672S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGCAAAGTCGGCCTTAGAAA	0.552										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7927-7929)TCG>TCT		zinc finger homeodomain 4							54.0	55.0	55.0					8																	77767221		1953	4137	6090	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767221G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8064G>T	8.37:g.77767221G>T		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.S2688S|ZFHX4_uc003yaw.1_Silent_p.S2643S	p.S2643S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8316	+			2643			C2H2-type 17.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7929G>T	CCDS47878.2																																																																																				PASS	0.552	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		33	65	33	65	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89179973	89179973	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:89179973G>T	ENST00000286614.6	-	4	915	c.634C>A	c.(634-636)Cct>Act	p.P212T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	212					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P212T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CCTGGTCCAGGGAAGTAGGCA	0.438																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(634-636)CCT>ACT		matrix metalloproteinase 16 isoform 1							95.0	82.0	87.0					8																	89179973		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89179973G>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.634C>A	8.37:g.89179973G>T	ENSP00000286614:p.Pro212Thr					MMP16_uc003yec.2_Missense_Mutation_p.P212T	p.P212T	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	916	-			212			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.634C>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362185	0.82353	.	.	ENSG00000156103	ENST00000286614	T	0.30448	1.53	5.5	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.047133	0.85682	D	0.000000	T	0.66848	0.2831	H	0.95816	3.725	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.69142	0.91;0.962	T	0.79344	-0.1842	10	0.87932	D	0	.	15.9509	0.79835	0.0:0.0:0.8644:0.1356	.	212;212	P51512-2;P51512	.;MMP16_HUMAN	T	212	ENSP00000286614:P212T	ENSP00000286614:P212T	P	-	1	0	MMP16	89249089	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.781000	0.99029	1.309000	0.44985	0.644000	0.83932	CCT		PASS	0.438	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		24	49	24	49	---	---	---	---
ERICH5	203111	broad.mit.edu	37	8	99101844	99101844	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:99101844C>G	ENST00000318528.3	+	2	958	c.599C>G	c.(598-600)gCt>gGt	p.A200G	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		200								p.A200G(1)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CTGCAAATAGCTGGAGAGCTA	0.478																																						uc003yih.1																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)GCT>GGT		hypothetical protein LOC203111							33.0	34.0	33.0					8																	99101844		2203	4300	6503	SO:0001583	missense	203111							g.chr8:99101844C>G																												ENST00000318528.3:c.599C>G	8.37:g.99101844C>G	ENSP00000315614:p.Ala200Gly						p.A200G	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		2	747	+	Breast(36;2.31e-06)		200					G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	c.599C>G	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	C	8.807	0.934191	0.18206	.	.	ENSG00000177459	ENST00000318528	T	0.52295	0.67	5.38	-3.93	0.04143	.	0.858257	0.10081	N	0.718448	T	0.37892	0.1020	M	0.71581	2.175	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.32214	-0.9915	10	0.23302	T	0.38	-12.5213	4.2506	0.10693	0.1046:0.1904:0.4882:0.2168	.	200	Q6P6B1	CH047_HUMAN	G	200	ENSP00000315614:A200G	ENSP00000315614:A200G	A	+	2	0	C8orf47	99171020	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.902000	0.01596	-1.153000	0.02829	0.655000	0.94253	GCT		PASS	0.478	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			15	39	15	39	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100729551	100729551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:100729551G>T	ENST00000358544.2	+	37	6793	c.6682G>T	c.(6682-6684)Gaa>Taa	p.E2228*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.E2203*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2228					protein transport (GO:0015031)			p.E2203*(1)|p.E2228*(1)|p.E2228Q(1)|p.E2203Q(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAGGCCCAGAACAATCCAT	0.428																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(2)|breast(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(6682-6684)GAA>TAA		vacuolar protein sorting 13B isoform 5							95.0	88.0	91.0					8																	100729551		2203	4300	6503	SO:0001587	stop_gained	157680				protein transport			g.chr8:100729551G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6682G>T	8.37:g.100729551G>T	ENSP00000351346:p.Glu2228*					VPS13B_uc003yiw.2_Nonsense_Mutation_p.E2203*	p.E2228*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		37	6793	+	Breast(36;3.73e-07)		2228					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	c.6682G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	45	11.580319	0.99578	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.27	4.37	0.52481	.	0.226648	0.35585	N	0.003102	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.3815	0.66914	0.0:0.2919:0.7081:0.0	.	.	.	.	X	2203;2228	.	ENSP00000349685:E2203X	E	+	1	0	VPS13B	100798727	1.000000	0.71417	0.999000	0.59377	0.280000	0.26924	3.834000	0.55798	1.285000	0.44548	0.655000	0.94253	GAA		PASS	0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		32	55	32	55	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100729569	100729569	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:100729569A>T	ENST00000358544.2	+	37	6811	c.6700A>T	c.(6700-6702)Ata>Tta	p.I2234L	VPS13B_ENST00000357162.2_Missense_Mutation_p.I2209L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2234					protein transport (GO:0015031)			p.I2234L(1)|p.I2209L(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATACCAAAAATATCCATTGA	0.418																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(6700-6702)ATA>TTA		vacuolar protein sorting 13B isoform 5							91.0	83.0	86.0					8																	100729569		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100729569A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6700A>T	8.37:g.100729569A>T	ENSP00000351346:p.Ile2234Leu					VPS13B_uc003yiw.2_Missense_Mutation_p.I2209L	p.I2234L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		37	6811	+	Breast(36;3.73e-07)		2234					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6700A>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118666	0.37436	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.73363	-0.73;-0.74	5.27	2.62	0.31277	.	0.283935	0.35615	N	0.003090	T	0.61123	0.2322	L	0.36672	1.1	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.56805	-0.7918	10	0.44086	T	0.13	.	8.3405	0.32241	0.7401:0.0:0.2599:0.0	.	2209;2234	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	L	2209;2234	ENSP00000349685:I2209L;ENSP00000351346:I2234L	ENSP00000349685:I2209L	I	+	1	0	VPS13B	100798745	0.991000	0.36638	1.000000	0.80357	0.983000	0.72400	0.454000	0.21827	0.937000	0.37394	0.533000	0.62120	ATA		PASS	0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		28	45	28	45	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100732672	100732672	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:100732672G>A	ENST00000358544.2	+	38	6943	c.6832G>A	c.(6832-6834)Gaa>Aaa	p.E2278K	VPS13B_ENST00000357162.2_Missense_Mutation_p.E2253K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2278					protein transport (GO:0015031)			p.E2278K(1)|p.E2253K(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAGTTTCTGAACCAGTGCC	0.373																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(6832-6834)GAA>AAA		vacuolar protein sorting 13B isoform 5							70.0	68.0	69.0					8																	100732672		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100732672G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6832G>A	8.37:g.100732672G>A	ENSP00000351346:p.Glu2278Lys					VPS13B_uc003yiw.2_Missense_Mutation_p.E2253K	p.E2278K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		38	6943	+	Breast(36;3.73e-07)		2278					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6832G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156298	0.09236	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.75	4.86	0.63082	.	0.544013	0.19807	N	0.105639	T	0.53722	0.1814	L	0.33485	1.01	0.26882	N	0.967528	B;B	0.24823	0.0;0.112	B;B	0.22386	0.001;0.039	T	0.44772	-0.9306	10	0.30854	T	0.27	.	10.8985	0.47036	0.0702:0.1318:0.798:0.0	.	2253;2278	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	K	2253;2278	ENSP00000349685:E2253K;ENSP00000351346:E2278K	ENSP00000349685:E2253K	E	+	1	0	VPS13B	100801848	0.431000	0.25546	0.217000	0.23759	0.416000	0.31233	1.909000	0.39917	1.389000	0.46526	0.591000	0.81541	GAA		PASS	0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		24	40	24	40	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110471938	110471938	+	Silent	SNP	C	C	A	rs184819616	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:110471938C>A	ENST00000378402.5	+	47	7223	c.7119C>A	c.(7117-7119)ctC>ctA	p.L2373L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2373					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L2375L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTCACACTCCCTGATGGAA	0.353										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7117-7119)CTC>CTA		fibrocystin L precursor							80.0	74.0	76.0					8																	110471938		1868	4109	5977	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110471938C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7119C>A	8.37:g.110471938C>A		HNSCC(38;0.096)					p.L2373L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		47	7223	+			2373			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.7119C>A	CCDS47911.1																																																																																				PASS	0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		16	34	16	34	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135524749	135524749	+	Silent	SNP	C	C	A	rs367952040	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr8:135524749C>A	ENST00000377838.3	-	14	3504	c.3330G>T	c.(3328-3330)gcG>gcT	p.A1110A	ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Silent_p.A1048A|ZFAT_ENST00000520727.1_Silent_p.A1098A|ZFAT_ENST00000429442.2_Silent_p.A1098A|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520214.1_Silent_p.A1098A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1110					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A1110A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGTCCTGGAGCGCGGCCACCG	0.542																																						uc003yup.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(3328-3330)GCG>GCT		zinc finger protein 406 isoform ZFAT-1							156.0	169.0	165.0					8																	135524749		2049	4196	6245	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524749C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3330G>T	8.37:g.135524749C>A						ZFAT_uc011ljj.1_Silent_p.A229A|ZFAT_uc003yun.2_Silent_p.A1098A|ZFAT_uc003yuo.2_Silent_p.A1098A|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A1098A|ZFAT_uc010mej.2_Silent_p.A1048A	p.A1110A	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		14	3505	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1110					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.3330G>T	CCDS47924.1																																																																																				PASS	0.542	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		76	169	76	169	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8528747	8528747	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr9:8528747C>A	ENST00000381196.4	-	12	928	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	PTPRD_ENST00000356435.5_Missense_Mutation_p.D129Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.D129Y|PTPRD_ENST00000540109.1_Missense_Mutation_p.D129Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.D129Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.D129Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.D129Y|PTPRD_ENST00000463477.1_Missense_Mutation_p.D129Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.D129Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.D129Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.D129Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.D129Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	129	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D129Y(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGCCCATGTCAATGGTAGGG	0.468										TSP Lung(15;0.13)																												uc003zkk.2																			4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(385-387)GAC>TAC		protein tyrosine phosphatase, receptor type, D							80.0	78.0	79.0					9																	8528747		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8528747C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.385G>T	9.37:g.8528747C>A	ENSP00000370593:p.Asp129Tyr	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkq.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkr.2_Missense_Mutation_p.D129Y|PTPRD_uc003zks.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkl.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkm.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkn.2_Missense_Mutation_p.D129Y|PTPRD_uc003zko.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkt.1_Missense_Mutation_p.D129Y	p.D129Y	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	14	1096	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	129			Extracellular (Potential).|Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.385G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616829	0.66672	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.71934	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.61	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	L	0.28054	0.825	0.80722	D	1	D;D;D;D;D;D;D;P;B;B	0.89917	1.0;0.993;0.958;0.964;0.979;1.0;0.991;0.821;0.045;0.314	D;D;P;P;P;D;P;B;B;B	0.91635	0.999;0.942;0.861;0.767;0.861;0.985;0.904;0.349;0.021;0.2	T	0.74284	-0.3715	9	.	.	.	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	129;129;129;129;129;129;129;129;129;129	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	Y	129	ENSP00000370593:D129Y;ENSP00000348812:D129Y;ENSP00000353187:D129Y;ENSP00000351293:D129Y;ENSP00000347373:D129Y;ENSP00000380741:D129Y;ENSP00000380735:D129Y;ENSP00000440515:D129Y;ENSP00000438164:D129Y;ENSP00000417093:D129Y;ENSP00000380731:D129Y;ENSP00000417661:D129Y	.	D	-	1	0	PTPRD	8518747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	GAC		PASS	0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			33	22	33	22	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14842451	14842451	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr9:14842451T>A	ENST00000380880.3	-	9	2384	c.1601A>T	c.(1600-1602)gAg>gTg	p.E534V	FREM1_ENST00000380881.4_Missense_Mutation_p.E535V|FREM1_ENST00000422223.2_Missense_Mutation_p.E534V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	534					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.E535V(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGTCTGCCCCTCCTCCAGTTC	0.507																																						uc003zlm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1600-1602)GAG>GTG		FRAS1 related extracellular matrix 1 precursor							129.0	130.0	129.0					9																	14842451		2036	4184	6220	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842451T>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1601A>T	9.37:g.14842451T>A	ENSP00000370262:p.Glu534Val					FREM1_uc010mic.2_RNA	p.E534V	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	9	2191	-			534			CSPG 3.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1601A>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792338	0.70452	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.61627	0.09;0.09;0.09	5.93	5.93	0.95920	.	0.047935	0.85682	D	0.000000	T	0.80232	0.4585	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83162	-0.0098	10	0.54805	T	0.06	-21.9416	16.3943	0.83563	0.0:0.0:0.0:1.0	.	534	Q5H8C1	FREM1_HUMAN	V	535;534;534	ENSP00000370263:E535V;ENSP00000412940:E534V;ENSP00000370262:E534V	ENSP00000370257:E537V	E	-	2	0	FREM1	14832451	1.000000	0.71417	0.999000	0.59377	0.385000	0.30292	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	GAG		PASS	0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		58	46	58	46	---	---	---	---
KLF4	9314	broad.mit.edu	37	9	110250280	110250280	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr9:110250280G>C	ENST00000374672.4	-	3	868	c.395C>G	c.(394-396)tCt>tGt	p.S132C		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	132	Ser-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S123C(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CGACGACGAAGAGGAGGCTGA	0.667																																						uc004bdh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)	3						c.(367-369)TCT>TGT		Kruppel-like factor 4 (gut)							20.0	15.0	17.0					9																	110250280		2187	4290	6477	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110250280G>C	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.395C>G	9.37:g.110250280G>C	ENSP00000363804:p.Ser132Cys					KLF4_uc004bdf.1_Missense_Mutation_p.S82C|KLF4_uc004bdg.2_Missense_Mutation_p.S132C	p.S123C	NM_004235	NP_004226	O43474	KLF4_HUMAN			3	989	-			132			Ser-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.368C>G	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423327	0.25639	.	.	ENSG00000136826	ENST00000374672;ENST00000411706	T	0.05319	3.46	4.73	3.83	0.44106	.	0.186072	0.26546	N	0.023772	T	0.07324	0.0185	N	0.14661	0.345	0.21290	N	0.999736	P;D	0.55385	0.951;0.971	P;P	0.50617	0.541;0.646	T	0.20240	-1.0281	10	0.51188	T	0.08	.	12.959	0.58447	0.0801:0.0:0.9199:0.0	.	132;132	O43474;O43474-1	KLF4_HUMAN;.	C	132;123	ENSP00000363804:S132C	ENSP00000363804:S132C	S	-	2	0	KLF4	109290101	0.314000	0.24563	0.756000	0.31282	0.119000	0.20118	2.020000	0.41010	1.180000	0.42898	0.655000	0.94253	TCT		PASS	0.667	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		7	1	7	1	---	---	---	---
PALM2	114299	broad.mit.edu	37	9	112642865	112642865	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr9:112642865G>A	ENST00000374531.2	+	4	241	c.167G>A	c.(166-168)gGc>gAc	p.G56D	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G54D|AKAP2_ENST00000510514.5_Missense_Mutation_p.G54D|PALM2_ENST00000483909.1_Missense_Mutation_p.G54D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.G54D|PALM2_ENST00000314527.4_Missense_Mutation_p.G54D|AKAP2_ENST00000555236.1_Missense_Mutation_p.G54D|PALM2_ENST00000448454.2_Missense_Mutation_p.G56D	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	56					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.G56D(1)|p.G54D(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTGCTGCAGGGCATACCCGCT	0.517																																						uc004bei.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(160-162)GGC>GAC		A kinase (PRKA) anchor protein 2 isoform 2							97.0	85.0	89.0					9																	112642865		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112642865G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.167G>A	9.37:g.112642865G>A	ENSP00000363656:p.Gly56Asp					PALM2_uc004bef.2_Missense_Mutation_p.G56D|PALM2_uc004beg.2_Missense_Mutation_p.G56D|PALM2_uc004beh.3_Missense_Mutation_p.G54D|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.G54D|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.G54D|PALM2-AKAP2_uc004bel.1_5'UTR	p.G54D	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			3	353	+			Error:Variant_position_missing_in_Q9Y2D5_after_alignment					A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.161G>A	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581013	0.86748	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.50277	1.24;1.2;1.27;1.22;0.75;1.56;1.14;1.58;1.56;1.58	5.36	5.36	0.76844	.	0.853808	0.10267	N	0.695276	T	0.70885	0.3275	M	0.71036	2.16	0.41997	D	0.990876	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.68131	-0.5490	10	0.87932	D	0	-16.3435	16.9434	0.86224	0.0:0.0:1.0:0.0	.	54;54;56;56	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	D	56;56;54;54;40;54;54;54;54;54	ENSP00000363656:G56D;ENSP00000400206:G56D;ENSP00000417525:G54D;ENSP00000323805:G54D;ENSP00000419747:G40D;ENSP00000363654:G54D;ENSP00000397839:G54D;ENSP00000305861:G54D;ENSP00000451476:G54D;ENSP00000421522:G54D	ENSP00000305861:G54D	G	+	2	0	PALM2-AKAP2;PALM2;AKAP2	111682686	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	6.908000	0.75730	2.693000	0.91896	0.650000	0.86243	GGC		PASS	0.517	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		4	57	4	57	---	---	---	---
OR2K2	26248	broad.mit.edu	37	9	114090514	114090514	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr9:114090514G>C	ENST00000374428.1	-	1	286	c.287C>G	c.(286-288)tCt>tGt	p.S96C	OR2K2_ENST00000302681.1_Missense_Mutation_p.S67C			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S67C(1)|p.S96C(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ATCCATGAAAGAGAGATTTCC	0.418																																						uc011lwp.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(199-201)TCT>TGT		olfactory receptor, family 2, subfamily K,							83.0	85.0	84.0					9																	114090514		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090514G>C	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.287C>G	9.37:g.114090514G>C	ENSP00000363550:p.Ser96Cys						p.S67C	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			1	200	-			96			Helical; Name=2; (Potential).		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.200C>G		.	.	.	.	.	.	.	.	.	.	G	17.83	3.484536	0.63962	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.12361	2.69;2.69	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	U	0.001131	T	0.48021	0.1477	H	0.96691	3.865	0.39211	D	0.963317	D	0.71674	0.998	P	0.60068	0.868	T	0.68812	-0.5310	10	0.87932	D	0	.	15.262	0.73631	0.0:0.0:1.0:0.0	.	96	Q8NGT1	OR2K2_HUMAN	C	67;96	ENSP00000305055:S67C;ENSP00000363550:S96C	ENSP00000305055:S67C	S	-	2	0	OR2K2	113130335	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	4.413000	0.59795	2.551000	0.86045	0.591000	0.81541	TCT		PASS	0.418	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		25	18	25	18	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120474964	120474964	+	Missense_Mutation	SNP	G	G	C	rs199943556		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr9:120474964G>C	ENST00000355622.6	+	3	659	c.558G>C	c.(556-558)aaG>aaC	p.K186N	TLR4_ENST00000394487.4_Missense_Mutation_p.K146N|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	186					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.K186N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CCAGCAACAAGATTCAAAGTA	0.388																																						uc004bjz.2																			1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(556-558)AAG>AAC		toll-like receptor 4 precursor							86.0	94.0	91.0					9																	120474964		2203	4299	6502	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474964G>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.558G>C	9.37:g.120474964G>C	ENSP00000363089:p.Lys186Asn					TLR4_uc004bka.2_Missense_Mutation_p.K146N|TLR4_uc004bkb.2_5'UTR	p.K186N	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	849	+			186			Extracellular (Potential).|LRR 6.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.558G>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.435569	0.01108	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.10192	2.9;2.9	5.35	-0.198	0.13224	.	1.187250	0.05993	N	0.646401	T	0.04137	0.0115	N	0.03177	-0.4	0.24809	N	0.992651	B	0.14805	0.011	B	0.18561	0.022	T	0.43097	-0.9412	10	0.17369	T	0.5	.	2.6731	0.05073	0.1391:0.1189:0.2891:0.4529	.	186	O00206	TLR4_HUMAN	N	146;186	ENSP00000377997:K146N;ENSP00000363089:K186N	ENSP00000363089:K186N	K	+	3	2	TLR4	119514785	0.988000	0.35896	0.819000	0.32651	0.023000	0.10783	0.697000	0.25556	-0.342000	0.08363	-1.360000	0.01215	AAG		PASS	0.388	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		57	71	57	71	---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126133398	126133398	+	Silent	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr9:126133398C>A	ENST00000373631.3	+	8	1978	c.1977C>A	c.(1975-1977)tcC>tcA	p.S659S	CRB2_ENST00000373629.2_Silent_p.S327S|CRB2_ENST00000359999.3_Silent_p.S659S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	659	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.S659S(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTCTGCCTCCTTTCTGCTCC	0.617																																						uc004bnx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1975-1977)TCC>TCA		crumbs homolog 2 precursor							96.0	107.0	103.0					9																	126133398		2203	4300	6503	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133398C>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1977C>A	9.37:g.126133398C>A						CRB2_uc004bnw.1_Silent_p.S659S	p.S659S	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			8	2069	+			659			Extracellular (Potential).|Laminin G-like 2.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.1977C>A	CCDS6852.2																																																																																				PASS	0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		4	171	4	171	---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126136902	126136902	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr9:126136902T>A	ENST00000373631.3	+	11	3435	c.3434T>A	c.(3433-3435)cTc>cAc	p.L1145H	CRB2_ENST00000373629.2_Missense_Mutation_p.L813H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1145	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.L1145H(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GTCACCTGCCTCGATGGCAGC	0.657																																						uc004bnx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3433-3435)CTC>CAC		crumbs homolog 2 precursor							74.0	63.0	66.0					9																	126136902		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126136902T>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3434T>A	9.37:g.126136902T>A	ENSP00000362734:p.Leu1145His						p.L1145H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			11	3526	+			1145			Extracellular (Potential).|EGF-like 14.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.3434T>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	6.492	0.458933	0.12342	.	.	ENSG00000148204	ENST00000373631;ENST00000373629	D;D	0.90504	-2.06;-2.68	5.08	1.32	0.21799	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.489662	0.15831	N	0.242510	D	0.88303	0.6400	M	0.64404	1.975	0.09310	N	0.999997	D	0.63880	0.993	P	0.50231	0.635	T	0.77555	-0.2544	10	0.15499	T	0.54	.	5.1679	0.15096	0.1366:0.1493:0.0:0.7141	.	1145	Q5IJ48	CRUM2_HUMAN	H	1145;813	ENSP00000362734:L1145H;ENSP00000362732:L813H	ENSP00000362732:L813H	L	+	2	0	CRB2	125176723	0.953000	0.32496	0.173000	0.22940	0.046000	0.14306	2.043000	0.41231	-0.030000	0.13804	-0.379000	0.06801	CTC		PASS	0.657	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		20	16	20	16	---	---	---	---
RET	5979	broad.mit.edu	37	10	43600477	43600477	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr10:43600477G>C	ENST00000355710.3	+	4	935	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	RET_ENST00000340058.5_Missense_Mutation_p.E235Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	235	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E235Q(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGAGCAGCGGGAGAAGTACGA	0.711		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		1	Substitution - Missense(1)		lung(1)	thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451	GRCh37	CM001780	RET	M		c.(703-705)GAG>CAG		ret proto-oncogene isoform a	Sunitinib(DB01268)						31.0	29.0	29.0					10																	43600477		2201	4296	6497	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43600477G>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.703G>C	10.37:g.43600477G>C	ENSP00000347942:p.Glu235Gln					RET_uc001jak.1_Missense_Mutation_p.E235Q|RET_uc010qez.1_5'UTR	p.E235Q	NM_020975	NP_066124	P07949	RET_HUMAN			4	893	+		Ovarian(717;0.0423)	235			Cadherin.|Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.703G>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	g	33	5.249946	0.95305	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.51574	0.7;0.7	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	0.045326	0.85682	D	0.000000	T	0.60534	0.2276	M	0.65498	2.005	0.80722	D	1	D;P	0.55605	0.972;0.766	P;B	0.53490	0.727;0.393	T	0.60707	-0.7210	10	0.41790	T	0.15	.	18.1816	0.89780	0.0:0.0:1.0:0.0	.	235;235	P07949;P07949-2	RET_HUMAN;.	Q	235	ENSP00000347942:E235Q;ENSP00000344798:E235Q	ENSP00000344798:E235Q	E	+	1	0	RET	42920483	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	8.386000	0.90166	2.610000	0.88304	0.550000	0.68814	GAG		PASS	0.711	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		14	4	14	4	---	---	---	---
RASGEF1A	221002	broad.mit.edu	37	10	43691988	43691988	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr10:43691988C>T	ENST00000395809.1	-	12	3863	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.V453I|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.V461I			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	453	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.V453I(1)|p.V400I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						AAGGAGGCGACGAAGAGAGCT	0.562																																						uc001jap.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1357-1359)GTC>ATC		RasGEF domain family, member 1A							126.0	116.0	119.0					10																	43691988		2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43691988C>T	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1357G>A	10.37:g.43691988C>T	ENSP00000379154:p.Val453Ile					RASGEF1A_uc001jao.1_Missense_Mutation_p.V461I	p.V453I	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN			12	1438	-			453			Ras-GEF.		Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.1357G>A	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915181	0.33815	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.29142	1.58;1.58;1.58	5.14	-7.89	0.01174	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.614546	0.16166	N	0.226524	T	0.07503	0.0189	N	0.02539	-0.55	0.19300	N	0.999974	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.17379	-1.0371	10	0.24483	T	0.36	.	4.7322	0.12970	0.0967:0.4335:0.1971:0.2727	.	453;461	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	I	461;453;453	ENSP00000363583:V461I;ENSP00000379155:V453I;ENSP00000379154:V453I	ENSP00000363583:V461I	V	-	1	0	RASGEF1A	43011994	1.000000	0.71417	0.093000	0.20910	0.888000	0.51559	0.606000	0.24194	-1.286000	0.02384	-0.672000	0.03802	GTC		PASS	0.562	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		35	30	35	30	---	---	---	---
ARHGAP22	58504	broad.mit.edu	37	10	49687694	49687694	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr10:49687694C>T	ENST00000249601.4	-	4	732	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.A146T|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.A56T|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.A56T|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.A152T|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.A21T	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	146					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.A146T(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCAGCGGGGCCCAGATGACT	0.667																																						uc001jgt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)GCC>ACC		Rho GTPase activating protein 2							39.0	40.0	39.0					10																	49687694		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49687694C>T	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.436G>A	10.37:g.49687694C>T	ENSP00000249601:p.Ala146Thr					ARHGAP22_uc001jgs.2_Missense_Mutation_p.A56T|ARHGAP22_uc001jgu.2_Missense_Mutation_p.A146T|ARHGAP22_uc010qgl.1_Intron|ARHGAP22_uc010qgm.1_Missense_Mutation_p.A152T|ARHGAP22_uc001jgv.2_5'UTR|uc001jgw.2_5'Flank	p.A146T	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN			4	733	-			146					A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.436G>A	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290059	0.80914	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T	0.30448	1.53;2.23;2.23;2.23;1.53;1.53	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	M	0.70595	2.14	0.80722	D	1	B;P;P;B	0.49358	0.065;0.787;0.923;0.107	B;B;P;B	0.49597	0.045;0.359;0.616;0.098	T	0.25984	-1.0116	10	0.18710	T	0.47	.	16.8225	0.85922	0.0:1.0:0.0:0.0	.	152;146;146;56	B4DED8;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3	.;.;RHG22_HUMAN;.	T	146;21;56;56;152;146	ENSP00000249601:A146T;ENSP00000363287:A21T;ENSP00000363285:A56T;ENSP00000410054:A56T;ENSP00000416701:A152T;ENSP00000412461:A146T	ENSP00000249601:A146T	A	-	1	0	ARHGAP22	49357700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.500000	0.81588	2.456000	0.83038	0.655000	0.94253	GCC		PASS	0.667	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		25	12	25	12	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95892112	95892112	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr10:95892112C>T	ENST00000371380.3	+	2	1623	c.1388C>T	c.(1387-1389)tCg>tTg	p.S463L	PLCE1_ENST00000260766.3_Missense_Mutation_p.S463L|PLCE1_ENST00000371385.3_Missense_Mutation_p.S155L|PLCE1_ENST00000371375.1_Missense_Mutation_p.S155L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	463					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.S463L(1)|p.S155L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTTCAATATCGCAGTACATC	0.502																																						uc001kjk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1387-1389)TCG>TTG		phospholipase C, epsilon 1 isoform 1							145.0	145.0	145.0					10																	95892112		2105	4221	6326	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95892112C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1388C>T	10.37:g.95892112C>T	ENSP00000360431:p.Ser463Leu					PLCE1_uc010qnx.1_Missense_Mutation_p.S463L|PLCE1_uc001kjm.2_Missense_Mutation_p.S155L	p.S463L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			3	2022	+		Colorectal(252;0.0458)	463					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1388C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143279	0.57044	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	4.84	4.84	0.62591	Ras guanine nucleotide exchange factor, domain (1);	0.780759	0.11589	N	0.548988	T	0.53206	0.1782	N	0.19112	0.55	0.30781	N	0.742018	P;P;P	0.39352	0.669;0.531;0.669	B;B;B	0.30943	0.122;0.057;0.122	T	0.61840	-0.6980	10	0.72032	D	0.01	.	18.3193	0.90232	0.0:1.0:0.0:0.0	.	463;155;463	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	463;463;155;155	ENSP00000260766:S463L;ENSP00000360431:S463L;ENSP00000360438:S155L;ENSP00000360426:S155L	ENSP00000260766:S463L	S	+	2	0	PLCE1	95882102	1.000000	0.71417	0.933000	0.37362	0.716000	0.41182	5.634000	0.67833	2.383000	0.81215	0.563000	0.77884	TCG		PASS	0.502	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		67	45	67	45	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108427527	108427527	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr10:108427527C>A	ENST00000263054.6	-	17	2230	c.2223G>T	c.(2221-2223)caG>caT	p.Q741H	SORCS1_ENST00000369698.1_Missense_Mutation_p.Q276H|SORCS1_ENST00000344440.6_Missense_Mutation_p.Q741H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	741					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.Q741H(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCGGCAGGCACTGGCCATTGC	0.453																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(2221-2223)CAG>CAT		SORCS receptor 1 isoform a							72.0	65.0	68.0					10																	108427527		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108427527C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2223G>T	10.37:g.108427527C>A	ENSP00000263054:p.Gln741His					SORCS1_uc001kyl.2_Missense_Mutation_p.Q741H|SORCS1_uc009xxs.2_Missense_Mutation_p.Q741H|SORCS1_uc001kyn.1_Missense_Mutation_p.Q741H|SORCS1_uc001kyo.2_Missense_Mutation_p.Q741H	p.Q741H	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	17	2231	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	741			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2223G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385587	0.61956	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.24151	1.87;2.44;2.45	5.49	2.57	0.30868	VPS10 (1);	0.148537	0.49916	D	0.000134	T	0.30510	0.0767	L	0.29908	0.895	0.40470	D	0.980339	P;D;D;P;D	0.53619	0.935;0.961;0.961;0.935;0.961	P;P;P;P;P	0.59889	0.737;0.865;0.865;0.634;0.865	T	0.02533	-1.1145	9	.	.	.	-19.9713	10.9558	0.47356	0.0:0.7836:0.0:0.2164	.	741;741;741;741;741	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	H	276;741;741	ENSP00000358712:Q276H;ENSP00000263054:Q741H;ENSP00000345964:Q741H	.	Q	-	3	2	SORCS1	108417517	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	0.549000	0.23329	0.787000	0.33731	0.462000	0.41574	CAG		PASS	0.453	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		14	15	14	15	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1269877	1269877	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:1269877A>T	ENST00000529681.1	+	31	11825	c.11767A>T	c.(11767-11769)Acc>Tcc	p.T3923S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3926S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3923	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T3878S(1)|p.T3923S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACCACCACCACAACTGT	0.622																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(13351-13353)ACC>TCC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							36.0	51.0	46.0					11																	1269877		1941	4101	6042	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269877A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11767A>T	11.37:g.1269877A>T	ENSP00000436812:p.Thr3923Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.T3926S	p.T4451S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	50	13477	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3923			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13351A>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	8.024	0.760246	0.15914	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.35	3.0	-1.91	0.07641	.	.	.	.	.	T	0.19287	0.0463	M	0.74258	2.255	0.09310	N	1	B;B	0.32781	0.384;0.384	B;B	0.27262	0.048;0.078	T	0.25363	-1.0134	9	0.87932	D	0	.	4.2626	0.10747	0.4846:0.0:0.099:0.4164	.	4451;3926	A7Y9J9;E9PBJ0	.;.	S	3923;3926;3867;3828	ENSP00000436812:T3923S;ENSP00000415793:T3926S	ENSP00000343037:T3867S	T	+	1	0	MUC5B	1226453	.	.	0.000000	0.03702	0.141000	0.21300	.	.	-0.174000	0.10743	0.248000	0.18094	ACC		PASS	0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	5	5	5	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10483143	10483143	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:10483143C>A	ENST00000396554.3	+	2	445	c.104C>A	c.(103-105)gCt>gAt	p.A35D	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	26					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.A35D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGGTGTTTGCTAAAGTGCTC	0.552																																						uc001mio.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(76-78)GCT>GAT		adenosine monophosphate deaminase 3 isoform 1B							89.0	91.0	90.0					11																	10483143		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10483143C>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.104C>A	11.37:g.10483143C>A	ENSP00000379802:p.Ala35Asp					AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Missense_Mutation_p.A35D|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.A26D|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.A33D|AMPD3_uc009yfy.2_Missense_Mutation_p.A26D	p.A26D	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	2	412	+			26					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.77C>A	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409103	0.96072	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77595	-0.2529	10	0.72032	D	0.01	-10.3019	20.2602	0.98440	0.0:1.0:0.0:0.0	.	33;26;35	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	D	26;35;26;26;33;26	ENSP00000432707:A26D;ENSP00000379802:A35D;ENSP00000433284:A26D;ENSP00000379801:A26D;ENSP00000436987:A33D;ENSP00000431648:A26D	ENSP00000379801:A26D	A	+	2	0	AMPD3	10439719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	GCT		PASS	0.552	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		57	37	57	37	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46903277	46903277	+	Silent	SNP	A	A	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:46903277A>G	ENST00000378623.1	-	20	3032	c.2790T>C	c.(2788-2790)gcT>gcC	p.A930A		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	930					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.A930A(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATCCAGTCCAGCAAATTCAA	0.493																																						uc001ndn.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2788-2790)GCT>GCC		low density lipoprotein receptor-related protein							145.0	136.0	139.0					11																	46903277		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46903277A>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2790T>C	11.37:g.46903277A>G							p.A930A	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	20	2936	-			930			Extracellular (Potential).|LDL-receptor class B 9.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.2790T>C	CCDS31478.1																																																																																				PASS	0.493	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		47	126	47	126	---	---	---	---
APLNR	187	broad.mit.edu	37	11	57004427	57004427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:57004427C>A	ENST00000606794.1	-	1	248	c.52G>T	c.(52-54)Gag>Tag	p.E18*		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	18					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.E18*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TACTCACACTCAGACTGGTTG	0.582																																						uc001njo.2																			1	Substitution - Nonsense(1)		lung(1)	lung(5)|ovary(1)	6						c.(52-54)GAG>TAG		apelin receptor							68.0	67.0	67.0					11																	57004427		2200	4295	6495	SO:0001587	stop_gained	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57004427C>A	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.52G>T	11.37:g.57004427C>A	ENSP00000475344:p.Glu18*					APLNR_uc001njn.3_RNA	p.E18*	NM_005161	NP_005152	P35414	APJ_HUMAN			1	501	-			18			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000606794.1	37	c.52G>T	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	36	5.957158	0.97145	.	.	ENSG00000134817	ENST00000257254;ENST00000326830	.	.	.	5.25	5.25	0.73442	.	0.392173	0.26692	N	0.022985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-14.7453	18.4361	0.90646	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000257254:E18X	E	-	1	0	APLNR	56761003	0.000000	0.05858	0.945000	0.38365	0.967000	0.64934	0.565000	0.23578	2.460000	0.83146	0.561000	0.74099	GAG		PASS	0.582	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		37	75	37	75	---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59629138	59629138	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:59629138G>T	ENST00000257264.3	-	4	522	c.418C>A	c.(418-420)Ccc>Acc	p.P140T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	140	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.P140T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAGTCAGGGGAGTGCCATTG	0.448																																						uc001noj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(418-420)CCC>ACC		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						93.0	89.0	90.0					11																	59629138		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59629138G>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.418C>A	11.37:g.59629138G>T	ENSP00000257264:p.Pro140Thr						p.P140T	NM_001062	NP_001053	P20061	TCO1_HUMAN			4	516	-		all_epithelial(135;0.198)	140					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.418C>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806819	0.31961	.	.	ENSG00000134827	ENST00000257264	T	0.52295	0.67	4.9	3.99	0.46301	.	0.103311	0.40818	N	0.001012	T	0.65069	0.2656	M	0.78801	2.425	0.27853	N	0.940681	D	0.71674	0.998	D	0.68353	0.957	T	0.60490	-0.7253	10	0.66056	D	0.02	.	9.7893	0.40695	0.0979:0.0:0.9021:0.0	.	140	P20061	TCO1_HUMAN	T	140	ENSP00000257264:P140T	ENSP00000257264:P140T	P	-	1	0	TCN1	59385714	0.994000	0.37717	0.632000	0.29296	0.074000	0.17049	3.072000	0.50049	1.198000	0.43158	0.655000	0.94253	CCC		PASS	0.448	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		38	59	38	59	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66472936	66472936	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:66472936T>C	ENST00000533211.1	-	15	2142	c.1811A>G	c.(1810-1812)tAt>tGt	p.Y604C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y604C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y604C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	604					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.Y604C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCAAGGTCTATACTCTGAGAA	0.637																																						uc001ojd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1810-1812)TAT>TGT		spectrin, beta, non-erythrocytic 2							24.0	27.0	26.0					11																	66472936		2171	4254	6425	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472936T>C	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1811A>G	11.37:g.66472936T>C	ENSP00000432568:p.Tyr604Cys						p.Y604C	NM_006946	NP_008877	O15020	SPTN2_HUMAN			14	1883	-			604			Spectrin 3.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.1811A>G	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529585	0.27387	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.72835	-0.68;-0.68;-0.69	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	D	0.85831	0.5788	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88566	0.3126	10	0.72032	D	0.01	.	12.8151	0.57660	0.0:0.0:0.0:1.0	.	604	O15020	SPTN2_HUMAN	C	604	ENSP00000432568:Y604C;ENSP00000311489:Y604C;ENSP00000433593:Y604C	ENSP00000311489:Y604C	Y	-	2	0	SPTBN2	66229512	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	7.737000	0.84957	1.858000	0.53909	0.402000	0.26972	TAT		PASS	0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		24	34	24	34	---	---	---	---
CPT1A	1374	broad.mit.edu	37	11	68574988	68574988	+	Missense_Mutation	SNP	C	C	A	rs200242711		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:68574988C>A	ENST00000265641.5	-	4	554	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	CPT1A_ENST00000540367.1_Missense_Mutation_p.G134W|CPT1A_ENST00000376618.2_Missense_Mutation_p.G134W|CPT1A_ENST00000539743.1_Missense_Mutation_p.G134W	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	134					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.G134W(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AACATCCACCCGTGGTAGGAG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19419	0.001		0.0	False		,,,				2504	0.0					uc001oog.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(400-402)GGG>TGG		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						189.0	136.0	154.0					11																	68574988		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68574988C>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.400G>T	11.37:g.68574988C>A	ENSP00000265641:p.Gly134Trp					CPT1A_uc001oof.3_Missense_Mutation_p.G134W|CPT1A_uc009ysj.2_Missense_Mutation_p.G134W	p.G134W	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		4	570	-	Esophageal squamous(3;3.28e-14)		134			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.400G>T	CCDS8185.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.04	3.286213	0.59867	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	6.04	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.91620	0.7352	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.93471	0.6819	10	0.87932	D	0	.	15.3659	0.74523	0.0:0.9335:0.0:0.0665	.	134;134;134	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	W	134	ENSP00000439084:G134W;ENSP00000365803:G134W;ENSP00000265641:G134W;ENSP00000446108:G134W	ENSP00000265641:G134W	G	-	1	0	CPT1A	68331564	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	4.760000	0.62235	1.573000	0.49748	-0.258000	0.10820	GGG		PASS	0.597	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		27	38	27	38	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	84245650	84245650	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:84245650T>A	ENST00000532653.1	-	2	469	c.167A>T	c.(166-168)cAt>cTt	p.H56L	DLG2_ENST00000398309.2_Missense_Mutation_p.H56L|DLG2_ENST00000524982.1_Missense_Mutation_p.H56L|DLG2_ENST00000543673.1_Missense_Mutation_p.H161L|DLG2_ENST00000376104.2_Missense_Mutation_p.H161L			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.H161L(1)|p.H56L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GACATATCCATGGACATTTTC	0.418																																						uc001paj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(2)|skin(1)	6						c.(166-168)CAT>CTT		chapsyn-110 isoform 2							181.0	170.0	174.0					11																	84245650		1876	4102	5978	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:84245650T>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.167A>T	11.37:g.84245650T>A	ENSP00000435849:p.His56Leu					DLG2_uc010rsz.1_Missense_Mutation_p.H56L|DLG2_uc010rta.1_Missense_Mutation_p.H56L|DLG2_uc001pak.2_Missense_Mutation_p.H161L|DLG2_uc001pal.1_Missense_Mutation_p.H56L	p.H56L	NM_001364	NP_001355	Q15700	DLG2_HUMAN			2	470	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	56					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.167A>T		.	.	.	.	.	.	.	.	.	.	T	21.8	4.199371	0.79015	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.88	5.88	0.94601	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.53938	D	0.000054	T	0.71962	0.3402	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.67145	0.968;0.996;0.96;0.968	D;D;D;D	0.70487	0.969;0.955;0.948;0.969	T	0.73052	-0.4104	9	.	.	.	.	16.2879	0.82732	0.0:0.0:0.0:1.0	.	56;56;161;56	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	L	56;161;161;56;56;161	ENSP00000381355:H56L;ENSP00000365272:H161L;ENSP00000441994:H161L;ENSP00000432894:H56L;ENSP00000435849:H56L	.	H	-	2	0	DLG2	83923298	1.000000	0.71417	0.974000	0.42286	0.919000	0.55068	7.534000	0.82004	2.242000	0.73789	0.533000	0.62120	CAT		PASS	0.418	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		45	94	45	94	---	---	---	---
SRSF8	10929	broad.mit.edu	37	11	94801046	94801046	+	RNA	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:94801046C>A	ENST00000529911.1	+	0	686					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CTAGCTCTCGCTCTGCATCAA	0.567																																						uc001pff.2																			0					0						c.(655-657)CGC>CGA		splicing factor, arginine/serine-rich 2B							95.0	103.0	100.0					11																	94801046		2170	4287	6457			10929				mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding	g.chr11:94801046C>A	AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"""Serine/arginine-rich splicing factors"""	16988	protein-coding gene	gene with protein product	"""SR splicing factor 8"""	603269	"""splicing factor, arginine/serine-rich 2B"""	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94801046C>A						SFRS2B_uc001pfg.1_5'Flank	p.R219R	NM_032102	NP_115285	Q9BRL6	SRSF8_HUMAN			2	992	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	219					B2R6B8|Q6PF01|Q96TA3	Silent	SNP	ENST00000529911.1	37	c.657C>A																																																																																					PASS	0.567	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000390962.3	NM_032102		4	103	4	103	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110126072	110126072	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:110126072C>T	ENST00000343115.4	-	8	1056	c.737G>A	c.(736-738)aGa>aAa	p.R246K	RDX_ENST00000528498.1_Missense_Mutation_p.R246K|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.R246K|RDX_ENST00000544551.1_Missense_Mutation_p.R110K	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	246	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.R246K(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGAAATATTTCTGATTTCACT	0.269																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	uc001pku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)AGA>AAA		radixin							36.0	39.0	38.0					11																	110126072		2198	4279	6477	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110126072C>T	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.737G>A	11.37:g.110126072C>T	ENSP00000342830:p.Arg246Lys					RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.R246K|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Missense_Mutation_p.R110K	p.R246K	NM_002906	NP_002897	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	8	1047	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	246			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.737G>A	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410959	0.83340	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.02	5.02	0.67125	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.076821	0.85682	D	0.000000	D	0.90017	0.6883	L	0.39326	1.205	0.80722	D	1	B;P;B	0.35575	0.025;0.51;0.006	B;P;B	0.53035	0.062;0.716;0.046	D	0.89367	0.3672	10	0.48119	T	0.1	.	18.6853	0.91560	0.0:1.0:0.0:0.0	.	110;246;246	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	K	246;246;246;246;110	ENSP00000432112:R246K;ENSP00000384136:R246K;ENSP00000342830:R246K;ENSP00000445826:R110K	ENSP00000342830:R246K	R	-	2	0	RDX	109631282	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.740000	0.84986	2.478000	0.83669	0.655000	0.94253	AGA		PASS	0.269	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		17	36	17	36	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113105811	113105811	+	Missense_Mutation	SNP	G	G	A	rs375525449		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:113105811G>A	ENST00000533760.1	+	13	1965	c.1366G>A	c.(1366-1368)Gta>Ata	p.V456I	NCAM1_ENST00000401611.2_Missense_Mutation_p.V583I|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.V574I	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	584	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.V583I(2)|p.V18I(1)|p.V574I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AACGTACGCCGTAAGGCTGGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17814	0.0		0.0	False		,,,				2504	0.001					uc009yyq.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1474-1476)GTA>ATA		neural cell adhesion molecule 1 isoform 3		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4022		0,0,2011	26.0	30.0	29.0		1751,1721,1829,1721,1721	5.8	0.2	11		29	3,8333		0,3,4165	no	missense,missense,missense,missense,missense	NCAM1	NM_181351.4,NM_001242608.1,NM_001242607.1,NM_001076682.3,NM_000615.6	29,29,29,29,29	0,3,6176	AA,AG,GG		0.036,0.0,0.0243	benign,benign,benign,benign,benign	584/859,574/727,610/885,574/762,574/849	113105811	3,12355	2011	4168	6179	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113105811G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1366G>A	11.37:g.113105811G>A	ENSP00000473281:p.Val456Ile						p.V492I	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	15	2168	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	584			Extracellular (Potential).|Fibronectin type-III 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1474G>A		.	.	.	.	.	.	.	.	.	.	G	9.966	1.224064	0.22457	0.0	3.6E-4	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.59083	0.29;0.29	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.075248	0.52532	U	0.000070	T	0.46698	0.1406	.	.	.	0.53688	D	0.999978	B;B;B;B	0.20164	0.034;0.034;0.042;0.019	B;B;B;B	0.25759	0.063;0.037;0.062;0.048	T	0.32295	-0.9912	9	0.22706	T	0.39	-34.9693	14.3096	0.66407	0.0707:0.0:0.9292:0.0	.	584;574;584;574	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	I	456;583;574;18	ENSP00000384055:V583I;ENSP00000318472:V574I	ENSP00000318472:V574I	V	+	1	0	NCAM1	112611021	1.000000	0.71417	0.181000	0.23098	0.005000	0.04900	4.674000	0.61612	2.767000	0.95098	0.591000	0.81541	GTA		PASS	0.552	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		5	10	5	10	---	---	---	---
OR6T1	219874	broad.mit.edu	37	11	123813782	123813782	+	Missense_Mutation	SNP	G	G	T	rs76969055		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:123813782G>T	ENST00000321252.2	-	1	798	c.764C>A	c.(763-765)tCc>tAc	p.S255Y		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S255Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGAAAGATGGAACTGCCATA	0.522																																						uc010sab.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(763-765)TCC>TAC		olfactory receptor, family 6, subfamily T,							181.0	153.0	163.0					11																	123813782		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813782G>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.764C>A	11.37:g.123813782G>T	ENSP00000325203:p.Ser255Tyr						p.S255Y	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	764	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	255			Helical; Name=6; (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.764C>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299298	0.40694	.	.	ENSG00000181499	ENST00000321252	T	0.00069	8.77	3.7	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	L	0.47190	1.495	0.22171	N	0.999312	D	0.69078	0.997	D	0.67231	0.95	T	0.53500	-0.8430	9	0.87932	D	0	-33.5658	5.4977	0.16811	0.2535:0.0:0.7465:0.0	.	255	Q8NGN1	OR6T1_HUMAN	Y	255	ENSP00000325203:S255Y	ENSP00000325203:S255Y	S	-	2	0	OR6T1	123318992	0.000000	0.05858	0.987000	0.45799	0.575000	0.36095	0.113000	0.15499	0.735000	0.32537	0.563000	0.77884	TCC		PASS	0.522	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		63	108	63	108	---	---	---	---
OR10G4	390264	broad.mit.edu	37	11	123886704	123886704	+	Silent	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr11:123886704C>A	ENST00000320891.4	+	1	423	c.423C>A	c.(421-423)gcC>gcA	p.A141A		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A141A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAGGTGTGCCCTCCTGGCCA	0.557																																						uc010sac.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(421-423)GCC>GCA		olfactory receptor, family 10, subfamily G,							209.0	199.0	203.0					11																	123886704		2201	4299	6500	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886704C>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.423C>A	11.37:g.123886704C>A							p.A141A	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	423	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	141			Helical; Name=4; (Potential).		Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.423C>A	CCDS31702.1																																																																																				PASS	0.557	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		79	201	79	201	---	---	---	---
ITFG2	55846	broad.mit.edu	37	12	2929267	2929267	+	Missense_Mutation	SNP	G	G	C	rs373063840		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr12:2929267G>C	ENST00000228799.2	+	5	561	c.422G>C	c.(421-423)cGt>cCt	p.R141P	ITFG2_ENST00000542548.1_Missense_Mutation_p.R29P|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	141					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.R141P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GATGGGTGTCGTGAGCTGGTG	0.612																																						uc001qlb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)CGT>CCT		integrin alpha FG-GAP repeat containing 2							126.0	98.0	107.0					12																	2929267		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2929267G>C	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.422G>C	12.37:g.2929267G>C	ENSP00000228799:p.Arg141Pro					ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA	p.R141P	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	486	+			141			FG-GAP 2; atypical.		A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.422G>C	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	g	11.52	1.663031	0.29515	.	.	ENSG00000111203	ENST00000228799;ENST00000542548	T;T	0.68331	-0.32;2.22	4.57	2.03	0.26663	.	0.191389	0.56097	D	0.000021	T	0.39809	0.1092	N	0.08118	0	0.80722	D	1	B	0.28971	0.229	B	0.20384	0.029	T	0.11518	-1.0584	10	0.36615	T	0.2	-7.9309	8.1278	0.31010	0.2484:0.0:0.7516:0.0	.	141	Q969R8	ITFG2_HUMAN	P	141;29	ENSP00000228799:R141P;ENSP00000437870:R29P	ENSP00000228799:R141P	R	+	2	0	ITFG2	2799528	0.991000	0.36638	0.001000	0.08648	0.870000	0.49936	3.919000	0.56439	0.255000	0.21593	0.556000	0.70494	CGT		PASS	0.612	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		25	36	25	36	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5853362	5853362	+	Missense_Mutation	SNP	G	G	T	rs201406615		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr12:5853362G>T	ENST00000356134.5	-	13	1374	c.1303C>A	c.(1303-1305)Cct>Act	p.P435T	ANO2_ENST00000546188.1_Missense_Mutation_p.P435T|ANO2_ENST00000327087.8_Missense_Mutation_p.P434T	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	439					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P434T(1)|p.P435T(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACGGTGGCAGGGTTGTCAAAC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18402	0.0		0.001	False		,,,				2504	0.0					uc001qnm.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1300-1302)CCT>ACT		anoctamin 2							96.0	106.0	102.0					12																	5853362		2112	4231	6343	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5853362G>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1303C>A	12.37:g.5853362G>T	ENSP00000348453:p.Pro435Thr						p.P434T	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			12	1372	-			439			Helical; (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1300C>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.81	3.896723	0.72639	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.62788	0.0;0.0;0.0	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.73372	2.23	0.80722	D	1	D	0.67145	0.996	D	0.64144	0.922	T	0.74592	-0.3614	10	0.35671	T	0.21	.	18.6044	0.91261	0.0:0.0:1.0:0.0	.	434	Q9NQ90-3	.	T	434;435;435;439	ENSP00000314048:P434T;ENSP00000348453:P435T;ENSP00000440981:P435T	ENSP00000314048:P434T	P	-	1	0	ANO2	5723623	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.387000	0.66243	2.721000	0.93114	0.655000	0.94253	CCT		PASS	0.547	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		27	69	27	69	---	---	---	---
ERGIC2	51290	broad.mit.edu	37	12	29498455	29498455	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr12:29498455T>C	ENST00000360150.4	-	11	821	c.746A>G	c.(745-747)tAt>tGt	p.Y249C		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	249					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)		p.Y249C(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TGTAATAAAATATTGGAACAT	0.313																																						uc001riv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(745-747)TAT>TGT		PTX1 protein	Arsenic trioxide(DB01169)						109.0	103.0	105.0					12																	29498455		1790	4063	5853	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29498455T>C	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.746A>G	12.37:g.29498455T>C	ENSP00000353270:p.Tyr249Cys					ERGIC2_uc001riw.2_RNA	p.Y249C	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN			11	879	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		249			Lumenal (Potential).		A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.746A>G	CCDS41765.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	18.80|18.80|18.80	3.700020|3.700020|3.700020	0.68501|0.68501|0.68501	.|.|.	.|.|.	ENSG00000087502|ENSG00000087502|ENSG00000087502	ENST00000548909|ENST00000551467|ENST00000360150;ENST00000201023	.|.|.	.|.|.	.|.|.	6.02|6.02|6.02	4.89|4.89|4.89	0.63831|0.63831|0.63831	.|.|Domain of unknown function DUF1692 (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.86066|0.86066|0.86066	0.5844|0.5844|0.5844	H|H|H	0.96547|0.96547|0.96547	3.84|3.84|3.84	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.89917	.|.|1.0	.|.|D	.|.|0.97110	.|.|1.0	D|D|D	0.88150|0.88150|0.88150	0.2850|0.2850|0.2850	5|5|9	.|.|0.87932	.|.|D	.|.|0	.|.|.	10.1173|10.1173|10.1173	0.42598|0.42598|0.42598	0.0:0.0781:0.0:0.9219|0.0:0.0781:0.0:0.9219|0.0:0.0781:0.0:0.9219	.|.|.	.|.|249	.|.|Q96RQ1	.|.|ERGI2_HUMAN	M|V|C	58|81|249;257	.|.|.	.|.|ENSP00000201023:Y257C	I|I|Y	-|-|-	3|1|2	3|0|0	ERGIC2|ERGIC2|ERGIC2	29389722|29389722|29389722	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.959000|0.959000|0.959000	0.62525|0.62525|0.62525	7.916000|7.916000|7.916000	0.87491|0.87491|0.87491	1.106000|1.106000|1.106000	0.41623|0.41623|0.41623	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	ATA|ATT|TAT		PASS	0.313	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		70	87	70	87	---	---	---	---
GXYLT1	283464	broad.mit.edu	37	12	42499711	42499711	+	Missense_Mutation	SNP	C	C	A	rs76555438		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr12:42499711C>A	ENST00000398675.3	-	5	1005	c.773G>T	c.(772-774)cGc>cTc	p.R258L	GXYLT1_ENST00000280876.6_Missense_Mutation_p.R227L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	258					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.R258L(1)|p.R227L(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CCTAGCAAAGCGATTATACCA	0.378																																						uc001rms.3																			2	Substitution - Missense(2)		lung(2)		0						c.(772-774)CGC>CTC		glycosyltransferase 8 domain containing 3							91.0	84.0	86.0					12																	42499711		1855	4107	5962	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42499711C>A	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.773G>T	12.37:g.42499711C>A	ENSP00000381666:p.Arg258Leu					GXYLT1_uc001rmt.3_Missense_Mutation_p.R227L	p.R258L	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN			5	998	-			258			Lumenal (Potential).		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.773G>T	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957650	0.92726	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.22743	1.94;1.94	6.07	5.19	0.71726	.	0.045796	0.85682	D	0.000000	T	0.53110	0.1776	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.983;0.993	T	0.62153	-0.6914	10	0.56958	D	0.05	-8.0962	17.0247	0.86442	0.1285:0.8715:0.0:0.0	.	227;258	Q4G148-2;Q4G148	.;GXLT1_HUMAN	L	258;227	ENSP00000381666:R258L;ENSP00000280876:R227L	ENSP00000280876:R227L	R	-	2	0	GXYLT1	40785978	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	1.594000	0.50039	-0.122000	0.15005	CGC		PASS	0.378	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		34	59	34	59	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	100175865	100175865	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr12:100175865C>T	ENST00000547776.2	-	5	679	c.680G>A	c.(679-681)gGg>gAg	p.G227E	ANKS1B_ENST00000329257.7_Missense_Mutation_p.G227E|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	227						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.G227E(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAGTGCACTCCCCTTTTCTGT	0.368																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GGG>GAG		cajalin 2 isoform a							79.0	77.0	77.0					12																	100175865		1847	4089	5936	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100175865C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.680G>A	12.37:g.100175865C>T	ENSP00000449629:p.Gly227Glu					ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.G227E	p.G227E	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	5	1097	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	227			ANK 7.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.680G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365083	0.82463	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	D;D;T	0.88431	-2.38;-2.38;-1.27	5.43	5.43	0.79202	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91672	0.5351	9	.	.	.	-6.6793	16.1857	0.81950	0.0:1.0:0.0:0.0	.	227;227	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	E	227	ENSP00000449629:G227E;ENSP00000331381:G227E;ENSP00000449894:G227E	.	G	-	2	0	ANKS1B	98699996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.960000	0.70348	2.546000	0.85860	0.655000	0.94253	GGG		PASS	0.368	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		10	11	10	11	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100790151	100790151	+	Missense_Mutation	SNP	C	C	T	rs121918339		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr12:100790151C>T	ENST00000323346.5	+	5	945	c.632C>T	c.(631-633)gCa>gTa	p.A211V	SLC17A8_ENST00000392989.3_Missense_Mutation_p.A211V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	211			A -> V (in DFNA25). {ECO:0000269|PubMed:18674745}.		ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.A211V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGTAAGTGGGCACCACCTTTG	0.423																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3	GRCh37	CM083779	SLC17A8	M	rs121918339	c.(631-633)GCA>GTA		solute carrier family 17 (sodium-dependent							85.0	84.0	84.0					12																	100790151		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100790151C>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.632C>T	12.37:g.100790151C>T	ENSP00000316909:p.Ala211Val					SLC17A8_uc009ztx.2_Missense_Mutation_p.A211V	p.A211V	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			5	945	+			211		A -> V (in DFNA25).	Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.632C>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181604	0.94885	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.57436	0.4;0.4	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050359	0.85682	D	0.000000	T	0.69205	0.3085	M	0.64997	1.995	0.80722	A	1	P;D	0.64830	0.905;0.994	D;D	0.67231	0.939;0.95	T	0.66268	-0.5966	9	0.33141	T	0.24	.	18.7979	0.92003	0.0:1.0:0.0:0.0	.	211;211	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	V	211	ENSP00000316909:A211V;ENSP00000376715:A211V	ENSP00000316909:A211V	A	+	2	0	SLC17A8	99314282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.717000	0.84732	2.499000	0.84300	0.561000	0.74099	GCA		PASS	0.423	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		30	58	30	58	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103699929	103699929	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr12:103699929C>G	ENST00000378113.2	-	5	679	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	C12orf42_ENST00000548048.1_Missense_Mutation_p.E85Q|C12orf42_ENST00000548883.1_Missense_Mutation_p.E152Q|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	152								p.E152Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CTGGCTCTCTCCTCAGTTTCT	0.458																																						uc001tjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(454-456)GAG>CAG		hypothetical protein LOC374470							67.0	68.0	68.0					12																	103699929		1878	4113	5991	SO:0001583	missense	374470							g.chr12:103699929C>G	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.454G>C	12.37:g.103699929C>G	ENSP00000367353:p.Glu152Gln					C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.E152Q|C12orf42_uc001tju.2_Missense_Mutation_p.E57Q	p.E152Q	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			5	542	-			152					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.454G>C	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	6.943	0.543871	0.13312	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	3.98	2.85	0.33270	.	0.638770	0.12895	N	0.430231	T	0.21468	0.0517	N	0.14661	0.345	0.09310	N	1	B	0.22346	0.068	B	0.19148	0.024	T	0.21415	-1.0246	10	0.16420	T	0.52	-0.1106	5.6814	0.17778	0.0:0.1253:0.0:0.8747	.	152	Q96LP6	CL042_HUMAN	Q	152;85;152;152	ENSP00000447908:E152Q;ENSP00000449362:E85Q;ENSP00000367353:E152Q;ENSP00000447795:E152Q	ENSP00000367353:E152Q	E	-	1	0	C12orf42	102224059	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.110000	0.15437	0.888000	0.36160	-0.389000	0.06534	GAG		PASS	0.458	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		28	52	28	52	---	---	---	---
C12orf45	121053	broad.mit.edu	37	12	105388301	105388301	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr12:105388301G>T	ENST00000552951.1	+	4	428	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	C12orf45_ENST00000280749.5_3'UTR|C12orf45_ENST00000548583.1_3'UTR	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	129								p.D129Y(1)		large_intestine(1)|lung(2)	3						AAAAGAAGTGgacagttcaga	0.398																																						uc001tlb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)GAC>TAC		hypothetical protein LOC121053							73.0	66.0	68.0					12																	105388301		1883	4098	5981	SO:0001583	missense	121053							g.chr12:105388301G>T	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.385G>T	12.37:g.105388301G>T	ENSP00000447057:p.Asp129Tyr						p.D129Y	NM_152318	NP_689531	Q8N5I9	CL045_HUMAN			4	418	+			129						Missense_Mutation	SNP	ENST00000552951.1	37	c.385G>T	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438178	0.62955	.	.	ENSG00000151131	ENST00000552951	T	0.38887	1.11	5.65	3.68	0.42216	.	0.728830	0.14012	N	0.347418	T	0.53465	0.1798	M	0.72118	2.19	0.22305	N	0.999215	D	0.60575	0.988	P	0.56700	0.804	T	0.44421	-0.9329	10	0.66056	D	0.02	-11.9733	7.1903	0.25822	0.0925:0.2132:0.6943:0.0	.	129	Q8N5I9	CL045_HUMAN	Y	129	ENSP00000447057:D129Y	ENSP00000447057:D129Y	D	+	1	0	C12orf45	103912431	0.110000	0.22057	0.200000	0.23457	0.972000	0.66771	0.900000	0.28431	1.529000	0.49120	0.650000	0.86243	GAC		PASS	0.398	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1	NM_152318		23	28	23	28	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129566569	129566569	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr12:129566569C>A	ENST00000422113.2	-	7	1984	c.1658G>T	c.(1657-1659)gGg>gTg	p.G553V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G91V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	553					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.G553V(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)		TTCACTGTCCCCGGCAGGCCT	0.622																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1657-1659)GGG>GTG		transmembrane protein 132D precursor							45.0	47.0	46.0					12																	129566569		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129566569C>A	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.1658G>T	12.37:g.129566569C>A	ENSP00000408581:p.Gly553Val					TMEM132D_uc001uia.2_Missense_Mutation_p.G91V	p.G553V	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	1986	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	553			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1658G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	9.009	0.981994	0.18812	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13307	2.6;2.6	4.72	-0.458	0.12182	.	0.786555	0.11244	N	0.584308	T	0.04272	0.0118	N	0.02539	-0.55	0.44745	D	0.997742	B;B	0.30973	0.302;0.001	B;B	0.29176	0.099;0.001	T	0.46679	-0.9174	9	.	.	.	-13.3998	5.9981	0.19505	0.0:0.5819:0.1259:0.2921	.	553;91	Q14C87;Q14C87-2	T132D_HUMAN;.	V	91;553	ENSP00000374092:G91V;ENSP00000408581:G553V	.	G	-	2	0	TMEM132D	128132522	0.674000	0.27549	0.049000	0.19019	0.155000	0.21991	1.194000	0.32174	-0.456000	0.07043	0.561000	0.74099	GGG		PASS	0.622	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		28	64	28	64	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26411385	26411385	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr13:26411385T>A	ENST00000381655.2	+	29	2981	c.2839T>A	c.(2839-2841)Tac>Aac	p.Y947N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.Y882N|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	907					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y947N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCCCCAGCTCTACAAAATCAC	0.488																																						uc001uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2839-2841)TAC>AAC		ATPase, aminophospholipid transporter-like,							116.0	110.0	112.0					13																	26411385		1926	4132	6058	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26411385T>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2839T>A	13.37:g.26411385T>A	ENSP00000371070:p.Tyr947Asn					ATP8A2_uc010tdi.1_Missense_Mutation_p.Y882N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.Y497N	p.Y947N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	29	2981	+		Breast(139;0.0201)|Lung SC(185;0.0225)	907			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2839T>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845867	0.91277	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.75938	-0.98;-0.98	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	H	0.97587	4.035	0.80722	D	1	P;D;P	0.63046	0.947;0.992;0.947	P;D;P	0.64321	0.84;0.924;0.686	D	0.93830	0.7127	10	0.87932	D	0	.	16.2009	0.82078	0.0:0.0:0.0:1.0	.	882;727;907	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	N	947;882;727	ENSP00000371070:Y947N;ENSP00000255283:Y882N	ENSP00000255283:Y882N	Y	+	1	0	ATP8A2	25309385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.235000	0.73313	0.533000	0.62120	TAC		PASS	0.488	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		64	38	64	38	---	---	---	---
POLR1D	51082	broad.mit.edu	37	13	28239962	28239962	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr13:28239962G>A	ENST00000399697.3	+	3	359	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	POLR1D_ENST00000465887.1_3'UTR	NM_001206559.1|NM_152705.2	NP_001193488.1|NP_689918.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.E81K(1)		endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CCAGAAAGAAGAAAACCCGAA	0.498																																						uc001urp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)GAA>AAA		polymerase (RNA) I polypeptide D isoform 2							110.0	112.0	112.0					13																	28239962		2203	4300	6503	SO:0001583	missense	51082				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr13:28239962G>A	AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000399697.3:c.241G>A	13.37:g.28239962G>A	ENSP00000382604:p.Glu81Lys					POLR1D_uc010aam.2_Missense_Mutation_p.E53K|POLR1D_uc001urq.2_RNA	p.E81K	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)	3	359	+		Lung SC(185;0.0161)	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					Q5TBX2|Q96BR3	Missense_Mutation	SNP	ENST00000399697.3	37	c.241G>A	CCDS9324.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603811	0.28534	.	.	ENSG00000186184	ENST00000399697	.	.	.	6.17	5.32	0.75619	.	0.301216	0.30201	U	0.010171	T	0.40719	0.1128	.	.	.	0.80722	D	1	B	0.30973	0.302	B	0.31101	0.124	T	0.24584	-1.0156	8	0.09338	T	0.73	.	12.8669	0.57944	0.1316:0.0:0.8684:0.0	.	81	Q9Y2S0-2	.	K	81	.	ENSP00000382604:E81K	E	+	1	0	POLR1D	27137962	0.995000	0.38212	0.705000	0.30386	0.042000	0.13812	2.276000	0.43408	1.599000	0.50093	0.655000	0.94253	GAA		PASS	0.498	POLR1D-004	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044306.1	NM_015972, NM_152705		22	25	22	25	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249034	20249034	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr14:20249034G>T	ENST00000315957.4	+	1	634	c.553G>T	c.(553-555)Gtc>Ttc	p.V185F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V185F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACACAGGTTGTCCGGATTGC	0.458																																						uc010tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)GTC>TTC		olfactory receptor, family 4, subfamily M,							272.0	248.0	256.0					14																	20249034		2202	4281	6483	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249034G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.553G>T	14.37:g.20249034G>T	ENSP00000319654:p.Val185Phe						p.V185F	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	553	+	all_cancers(95;0.00108)		185			Extracellular (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.553G>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.247922	0.22880	.	.	ENSG00000176299	ENST00000315957	T	0.00152	8.66	4.43	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.153876	0.30347	N	0.009825	T	0.00073	0.0002	N	0.11284	0.12	0.09310	N	1	B	0.25850	0.136	B	0.27262	0.078	T	0.20940	-1.0260	10	0.59425	D	0.04	-14.3143	4.3011	0.10925	0.2051:0.1902:0.6047:0.0	.	185	Q8NGD0	OR4M1_HUMAN	F	185	ENSP00000319654:V185F	ENSP00000319654:V185F	V	+	1	0	OR4M1	19318874	0.001000	0.12720	0.997000	0.53966	0.991000	0.79684	-0.033000	0.12246	1.221000	0.43506	0.506000	0.49869	GTC		PASS	0.458	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			91	68	91	68	---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67787835	67787835	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr14:67787835G>A	ENST00000261681.4	+	13	2260	c.1599G>A	c.(1597-1599)cgG>cgA	p.R533R	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Silent_p.R499R	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	533	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.R533R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTGTTTCGCGGCAAGCATTCG	0.443																																						uc001xjc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1597-1599)CGG>CGA		membrane protein, palmitoylated 5							142.0	134.0	136.0					14																	67787835		2203	4300	6503	SO:0001819	synonymous_variant	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67787835G>A	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1599G>A	14.37:g.67787835G>A						MPP5_uc001xjd.2_Silent_p.R499R|ATP6V1D_uc001xje.2_Intron	p.R533R	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	13	2065	+			533			Guanylate kinase-like.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	ENST00000261681.4	37	c.1599G>A	CCDS9779.1																																																																																				PASS	0.443	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		4	97	4	97	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68249614	68249614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr14:68249614C>A	ENST00000347230.4	-	21	4393	c.4255G>T	c.(4255-4257)Gaa>Taa	p.E1419*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.E1419*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1419					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E1419*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ACCAAGGATTCCTCAAAAGCC	0.537																																						uc001xka.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|breast(2)	11						c.(4255-4257)GAA>TAA		zinc finger, FYVE domain containing 26							103.0	104.0	104.0					14																	68249614		2203	4300	6503	SO:0001587	stop_gained	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68249614C>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4255G>T	14.37:g.68249614C>A	ENSP00000251119:p.Glu1419*					ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.E1419*	p.E1419*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	21	4394	-			1419					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	ENST00000347230.4	37	c.4255G>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	40	8.502679	0.98838	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.5	5.5	0.81552	.	0.169880	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-6.7578	16.1597	0.81693	0.0:0.8578:0.1422:0.0	.	.	.	.	X	1419;1398;1419	.	ENSP00000251119:E1419X	E	-	1	0	ZFYVE26	67319367	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	2.180000	0.42537	2.861000	0.98227	0.655000	0.94253	GAA		PASS	0.537	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		66	39	66	39	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86087896	86087896	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr14:86087896C>A	ENST00000330753.4	+	2	805	c.38C>A	c.(37-39)gCt>gAt	p.A13D	FLRT2_ENST00000554746.1_Missense_Mutation_p.A13D	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	13					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.A13D(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCCATGGGGCTTTTTTCCTG	0.458																																						uc001xvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(37-39)GCT>GAT		fibronectin leucine rich transmembrane protein 2							65.0	68.0	67.0					14																	86087896		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86087896C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.38C>A	14.37:g.86087896C>A	ENSP00000332879:p.Ala13Asp					FLRT2_uc010atd.2_Missense_Mutation_p.A13D	p.A13D	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	805	+			13					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.38C>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181545	0.57800	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57107	0.42;0.42	5.73	4.84	0.62591	.	0.258185	0.37348	N	0.002122	T	0.32556	0.0833	N	0.14661	0.345	0.29350	N	0.865412	B	0.32693	0.38	B	0.31869	0.137	T	0.22487	-1.0215	10	0.39692	T	0.17	-0.2879	8.7033	0.34338	0.0:0.788:0.0:0.212	.	13	O43155	FLRT2_HUMAN	D	13	ENSP00000332879:A13D;ENSP00000451050:A13D	ENSP00000332879:A13D	A	+	2	0	FLRT2	85157649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.522000	0.45572	2.706000	0.92434	0.655000	0.94253	GCT		PASS	0.458	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			51	34	51	34	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34064313	34064313	+	Silent	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr15:34064313C>A	ENST00000389232.4	+	63	9079	c.9009C>A	c.(9007-9009)tcC>tcA	p.S3003S	RYR3_ENST00000415757.3_Silent_p.S3003S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3003					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.S3003S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCTGACGTCCATCTTTGAGC	0.473																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9007-9009)TCC>TCA		ryanodine receptor 3							87.0	81.0	83.0					15																	34064313		1979	4158	6137	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34064313C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9009C>A	15.37:g.34064313C>A						RYR3_uc010bar.2_Silent_p.S3003S	p.S3003S	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	63	9079	+		all_lung(180;7.18e-09)	3003			Helical; Name=M'; (Potential).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9009C>A	CCDS45210.1																																																																																				PASS	0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			22	24	22	24	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41813976	41813976	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr15:41813976C>T	ENST00000304330.4	-	21	3114	c.2998G>A	c.(2998-3000)Gag>Aag	p.E1000K	RPAP1_ENST00000561603.1_Missense_Mutation_p.E1000K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1000	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.E1000K(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCAGCAGCTCATGGGTGAGG	0.592																																						uc001zod.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2998-3000)GAG>AAG		RNA polymerase II associated protein 1							68.0	63.0	65.0					15																	41813976		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41813976C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2998G>A	15.37:g.41813976C>T	ENSP00000306123:p.Glu1000Lys					RPAP1_uc001zoc.2_Missense_Mutation_p.E19K	p.E1000K	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	21	3122	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1000			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.2998G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322121	0.60634	.	.	ENSG00000103932	ENST00000304330	T	0.75589	-0.95	4.89	4.89	0.63831	.	0.113014	0.64402	D	0.000017	T	0.72661	0.3488	M	0.64997	1.995	0.46167	D	0.998902	P	0.43857	0.819	B	0.41374	0.355	T	0.77879	-0.2423	10	0.87932	D	0	-17.4056	13.9243	0.63952	0.0:0.8479:0.1521:0.0	.	1000	Q9BWH6	RPAP1_HUMAN	K	1000	ENSP00000306123:E1000K	ENSP00000306123:E1000K	E	-	1	0	RPAP1	39601268	0.982000	0.34865	0.959000	0.39883	0.427000	0.31564	2.555000	0.45854	2.520000	0.84964	0.563000	0.77884	GAG		PASS	0.592	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		15	37	15	37	---	---	---	---
B2M	567	broad.mit.edu	37	15	45007768	45007768	+	Nonsense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr15:45007768C>G	ENST00000558401.1	+	2	285	c.215C>G	c.(214-216)tCa>tGa	p.S72*	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Nonsense_Mutation_p.S72*|B2M_ENST00000544417.1_Nonsense_Mutation_p.S72*	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	72	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.K61_L74del(1)|p.S72*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTGGAGCATTCAGACTTGTCT	0.418																																						uc001zuc.2																			2	Substitution - Nonsense(1)|Deletion - In frame(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(2)|skin(1)	3						c.(214-216)TCA>TGA		beta-2-microglobulin precursor							208.0	210.0	209.0					15																	45007768		2198	4298	6496	SO:0001587	stop_gained	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007768C>G	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.215C>G	15.37:g.45007768C>G	ENSP00000452780:p.Ser72*					B2M_uc010uek.1_Nonsense_Mutation_p.S72*|B2M_uc010bdx.1_Intron	p.S72*	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	275	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	72			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Nonsense_Mutation	SNP	ENST00000558401.1	37	c.215C>G	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090929	0.76756	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	.	.	.	6.03	6.03	0.97812	.	1.086830	0.06994	N	0.822174	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.0569	0.80812	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000340858:S72X	S	+	2	0	B2M	42795060	0.730000	0.28100	0.980000	0.43619	0.254000	0.26022	3.087000	0.50167	2.861000	0.98227	0.655000	0.94253	TCA		PASS	0.418	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		58	56	58	56	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48062819	48062819	+	Silent	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr15:48062819C>A	ENST00000316364.5	+	19	2498	c.2059C>A	c.(2059-2061)Cga>Aga	p.R687R	SEMA6D_ENST00000389433.2_Silent_p.R668R|SEMA6D_ENST00000389432.2_Silent_p.R644R|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Silent_p.R625R|SEMA6D_ENST00000389428.3_Silent_p.R612R|SEMA6D_ENST00000354744.4_Silent_p.R631R|SEMA6D_ENST00000537942.1_Silent_p.R625R|SEMA6D_ENST00000536845.2_Silent_p.R687R|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.R625R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	687					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R625R(1)|p.R687R(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATACTGCTATCGAGACATGTT	0.463																																						uc010bek.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|breast(1)	4						c.(2059-2061)CGA>AGA		semaphorin 6D isoform 4 precursor							130.0	125.0	127.0					15																	48062819		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48062819C>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2059C>A	15.37:g.48062819C>A						SEMA6D_uc001zvw.2_Silent_p.R625R|SEMA6D_uc001zvy.2_Silent_p.R687R|SEMA6D_uc001zvz.2_Silent_p.R631R|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.R625R|SEMA6D_uc001zwc.2_Silent_p.R612R	p.R687R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2419	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	687			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.2059C>A	CCDS32225.1																																																																																				PASS	0.463	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		105	60	105	60	---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49127093	49127093	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr15:49127093T>C	ENST00000332408.4	-	11	2038	c.1610A>G	c.(1609-1611)gAg>gGg	p.E537G	SHC4_ENST00000396535.3_Missense_Mutation_p.E294G|SHC4_ENST00000537958.1_Missense_Mutation_p.E251G	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	537	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.E537G(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAAGAGGCTCTCTGCCGCCTT	0.537																																						uc001zxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1609-1611)GAG>GGG		rai-like protein							118.0	98.0	105.0					15																	49127093		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49127093T>C	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1610A>G	15.37:g.49127093T>C	ENSP00000329668:p.Glu537Gly					SHC4_uc010uey.1_Missense_Mutation_p.E294G|SHC4_uc010uez.1_Missense_Mutation_p.E251G	p.E537G	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	11	2039	-		all_lung(180;0.00466)	537			SH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.1610A>G	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737364	0.89482	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	D;D;D	0.92048	-2.96;-2.96;-2.96	4.92	4.92	0.64577	SH2 motif (5);	0.000000	0.64402	D	0.000002	D	0.97284	0.9112	H	0.96301	3.8	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98532	1.0628	10	0.87932	D	0	-28.4373	14.7222	0.69314	0.0:0.0:0.0:1.0	.	294;537	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	G	537;294;251	ENSP00000329668:E537G;ENSP00000379786:E294G;ENSP00000443300:E251G	ENSP00000329668:E537G	E	-	2	0	SHC4	46914385	1.000000	0.71417	0.986000	0.45419	0.932000	0.56968	7.499000	0.81566	2.068000	0.61886	0.482000	0.46254	GAG		PASS	0.537	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		3	42	3	42	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60747529	60747529	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr15:60747529T>C	ENST00000261520.4	-	7	1013	c.779A>G	c.(778-780)cAt>cGt	p.H260R	NARG2_ENST00000561114.1_Missense_Mutation_p.H260R|NARG2_ENST00000439632.1_Missense_Mutation_p.H123R	NM_024611.4	NP_078887.2												p.H260R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACTTACATAATGCATAGCTTC	0.368																																						uc002agp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(778-780)CAT>CGT		NMDA receptor regulated 2 isoform a							218.0	202.0	208.0					15																	60747529		2203	4300	6503	SO:0001583	missense	79664					nucleus		g.chr15:60747529T>C																												ENST00000261520.4:c.779A>G	15.37:g.60747529T>C	ENSP00000261520:p.His260Arg					NARG2_uc002ago.2_Missense_Mutation_p.H123R|NARG2_uc002agq.3_5'Flank|NARG2_uc010bgk.2_Missense_Mutation_p.H260R|NARG2_uc002agr.1_Missense_Mutation_p.H260R	p.H260R	NM_024611	NP_078887	Q659A1	NARG2_HUMAN			7	1014	-			260						Missense_Mutation	SNP	ENST00000261520.4	37	c.779A>G	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.381090	0.61845	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.9	4.9	0.64082	.	0.052219	0.85682	D	0.000000	T	0.56217	0.1970	L	0.56769	1.78	0.45161	D	0.99817	B;P	0.42785	0.288;0.79	B;B	0.41571	0.261;0.36	T	0.63382	-0.6650	9	0.87932	D	0	-9.5186	13.0558	0.58980	0.0:0.0:0.0:1.0	.	123;260	G3V0H6;Q659A1	.;NARG2_HUMAN	R	260;123	.	ENSP00000261520:H260R	H	-	2	0	NARG2	58534821	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.043000	0.49823	1.969000	0.57287	0.460000	0.39030	CAT		PASS	0.368	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			27	205	27	205	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100341348	100341348	+	RNA	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr15:100341348T>A	ENST00000341853.1	-	0	298					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										ATGGAGTGCATGAAGCTGTGG	0.587																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							43.0	39.0	40.0					15																	100341348		1548	3569	5117			196968							g.chr15:100341348T>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100341348T>A						C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|C15orf51_uc010bow.2_RNA		NR_003260						3		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.299A>T																																																																																					PASS	0.587	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		42	27	42	27	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51174483	51174483	+	Silent	SNP	A	A	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr16:51174483A>T	ENST00000251020.4	-	2	1683	c.1650T>A	c.(1648-1650)acT>acA	p.T550T	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.T453T|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	550					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T550T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTGGTCAGAGTAGGCAGGA	0.577																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(1648-1650)ACT>ACA		sal-like 1 isoform a							52.0	53.0	52.0					16																	51174483		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174483A>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1650T>A	16.37:g.51174483A>T						SALL1_uc010vgr.1_Silent_p.T453T|SALL1_uc010cbv.2_Intron	p.T550T	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1681	-		all_cancers(37;0.0322)	550					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1650T>A	CCDS10747.1																																																																																				PASS	0.577	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		38	28	38	28	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6021315	6021315	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr17:6021315G>T	ENST00000574946.1	+	8	1572	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	WSCD1_ENST00000573634.1_Missense_Mutation_p.K278N|WSCD1_ENST00000317744.5_Missense_Mutation_p.K394N|WSCD1_ENST00000574232.1_Missense_Mutation_p.K394N|WSCD1_ENST00000539421.1_Missense_Mutation_p.K394N			Q658N2	WSCD1_HUMAN	WSC domain containing 1	394						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.K394N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGGGTTCAAGGGCGAAAAGG	0.542																																						uc010cli.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1180-1182)AAG>AAT		WSC domain containing 1							83.0	79.0	80.0					17																	6021315		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:6021315G>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1182G>T	17.37:g.6021315G>T	ENSP00000460825:p.Lys394Asn					WSCD1_uc002gcn.2_Missense_Mutation_p.K394N|WSCD1_uc002gco.2_Missense_Mutation_p.K394N|WSCD1_uc010clj.2_Missense_Mutation_p.K85N	p.K394N	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			8	1561	+			394					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.1182G>T	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099317	0.37048	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.34667	1.35;1.35	5.47	2.08	0.27032	.	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	M	0.78049	2.395	0.49915	D	0.999838	D	0.76494	0.999	D	0.80764	0.994	T	0.49826	-0.8898	10	0.46703	T	0.11	-47.4486	5.5616	0.17146	0.4576:0.0:0.5424:0.0	.	394	Q658N2	WSCD1_HUMAN	N	394	ENSP00000323087:K394N;ENSP00000446032:K394N	ENSP00000323087:K394N	K	+	3	2	WSCD1	5962039	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	2.024000	0.41049	0.704000	0.31869	-0.123000	0.14984	AAG		PASS	0.542	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		4	127	4	127	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	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.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		PASS	0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	7	39	7	---	---	---	---
CYB561	1534	broad.mit.edu	37	17	61514793	61514793	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr17:61514793C>A	ENST00000392976.1	-	2	415	c.116G>T	c.(115-117)cGa>cTa	p.R39L	CYB561_ENST00000581573.1_Missense_Mutation_p.R39L|CYB561_ENST00000448884.2_Missense_Mutation_p.R39L|CYB561_ENST00000584031.1_Missense_Mutation_p.R39L|CYB561_ENST00000360793.3_Missense_Mutation_p.R39L|CYB561_ENST00000582297.1_Missense_Mutation_p.R39L|CYB561_ENST00000582997.1_Missense_Mutation_p.R46L|CYB561_ENST00000581163.1_5'Flank|CYB561_ENST00000542042.1_Missense_Mutation_p.R106L|CYB561_ENST00000582034.1_Missense_Mutation_p.R10L|CYB561_ENST00000392975.2_Missense_Mutation_p.R39L	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	39	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)	p.R39L(1)|p.R39Q(1)		lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		AATGCCGCCTCGGTACAGCCC	0.652																																						uc002jap.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(1)	1						c.(115-117)CGA>CTA		cytochrome b-561							70.0	65.0	67.0					17																	61514793		2203	4300	6503	SO:0001583	missense	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61514793C>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.116G>T	17.37:g.61514793C>A	ENSP00000376702:p.Arg39Leu					CYB561_uc002jaq.2_Missense_Mutation_p.R85L|CYB561_uc002jar.2_Missense_Mutation_p.R39L|CYB561_uc002jas.2_Missense_Mutation_p.R39L|CYB561_uc010ddt.2_Missense_Mutation_p.R39L|CYB561_uc002jat.2_Missense_Mutation_p.R39L|CYB561_uc010wpf.1_Missense_Mutation_p.R39L|CYB561_uc010wpg.1_Missense_Mutation_p.R10L	p.R39L	NM_001915	NP_001906	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	1	518	-			39			Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	c.116G>T	CCDS11636.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320486	0.41096	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042	T;T;T;T	0.67523	-0.24;-0.24;-0.24;-0.27	4.16	4.16	0.48862	Cytochrome b561/ferric reductase transmembrane (1);	0.064377	0.64402	D	0.000014	T	0.70613	0.3244	L	0.49350	1.555	0.58432	D	0.999998	B;P;D;B	0.61697	0.301;0.517;0.99;0.06	B;B;P;B	0.58454	0.027;0.167;0.839;0.027	T	0.65944	-0.6045	10	0.10111	T	0.7	-6.2939	15.6361	0.76953	0.0:1.0:0.0:0.0	.	39;39;106;39	B7Z775;B3KTA1;F5H757;P49447	.;.;.;CY561_HUMAN	L	39;39;39;39;106	ENSP00000354028:R39L;ENSP00000376702:R39L;ENSP00000376701:R39L;ENSP00000442773:R106L	ENSP00000354028:R39L	R	-	2	0	CYB561	58868525	0.987000	0.35691	0.984000	0.44739	0.592000	0.36648	2.650000	0.46665	2.170000	0.68504	0.561000	0.74099	CGA		PASS	0.652	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		58	22	58	22	---	---	---	---
CARD14	79092	broad.mit.edu	37	17	78179367	78179367	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr17:78179367G>A	ENST00000573882.1	+	21	3143	c.2607G>A	c.(2605-2607)caG>caA	p.Q869Q	CARD14_ENST00000344227.2_Silent_p.Q869Q|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	869	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)	p.Q869Q(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTGGAGCCAGAGAGGGGACA	0.622																																						uc002jxw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2605-2607)CAG>CAA		caspase recruitment domain protein 14 isoform 1							64.0	53.0	57.0					17																	78179367		2200	4295	6495	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78179367G>A	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2607G>A	17.37:g.78179367G>A						CARD14_uc002jxt.1_RNA	p.Q869Q	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		19	2802	+	all_neural(118;0.0952)		869			Guanylate kinase-like.		B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.2607G>A	CCDS11768.1																																																																																				PASS	0.622	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			8	5	8	5	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3215016	3215016	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr18:3215016G>T	ENST00000356443.4	-	2	539	c.206C>A	c.(205-207)tCc>tAc	p.S69Y	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.S69Y|MYOM1_ENST00000400569.3_Missense_Mutation_p.S69Y	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	69					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.S69Y(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGCTGCTGGGAGGAGGAGGC	0.692																																						uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(205-207)TCC>TAC		myomesin 1 isoform a							28.0	32.0	31.0					18																	3215016		2047	4202	6249	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215016G>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.206C>A	18.37:g.3215016G>T	ENSP00000348821:p.Ser69Tyr					MYOM1_uc002klq.2_Missense_Mutation_p.S69Y	p.S69Y	NM_003803	NP_003794	P52179	MYOM1_HUMAN			2	540	-			69					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.206C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.268765	0.00259	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.45668	1.01;1.02;0.89	4.85	-0.66	0.11421	.	1.401580	0.04218	N	0.333065	T	0.13970	0.0338	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	10	0.02654	T	1	.	2.0656	0.03602	0.1875:0.1187:0.4428:0.251	.	69;69	P52179-2;P52179	.;MYOM1_HUMAN	Y	69	ENSP00000348821:S69Y;ENSP00000383413:S69Y;ENSP00000261606:S69Y	ENSP00000261606:S69Y	S	-	2	0	MYOM1	3205016	0.134000	0.22483	0.883000	0.34634	0.016000	0.09150	-0.590000	0.05760	-0.212000	0.10109	-1.556000	0.00890	TCC		PASS	0.692	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		24	45	24	45	---	---	---	---
RAB12	201475	broad.mit.edu	37	18	8624946	8624946	+	Silent	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr18:8624946C>T	ENST00000329286.6	+	2	520	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	79					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.F79F(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						GTGTTGACTTCAAAATCAAAA	0.323																																						uc002knp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(235-237)TTC>TTT		RAB12, member RAS oncogene family							177.0	163.0	167.0					18																	8624946		1833	4093	5926	SO:0001819	synonymous_variant	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8624946C>T		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.237C>T	18.37:g.8624946C>T							p.F79F	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN			2	520	+			79			Effector region (By similarity).		A6NEF5|Q4KMQ3	Silent	SNP	ENST00000329286.6	37	c.237C>T	CCDS42410.1																																																																																				PASS	0.323	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		52	130	52	130	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30260198	30260198	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr18:30260198G>T	ENST00000359358.4	-	7	1960	c.1522C>A	c.(1522-1524)Cgt>Agt	p.R508S		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	508						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.R508S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGAATTGCACGTTTTGTGTTC	0.378																																						uc002kxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1522-1524)CGT>AGT		kelch-like 14							162.0	140.0	147.0					18																	30260198		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30260198G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1522C>A	18.37:g.30260198G>T	ENSP00000352314:p.Arg508Ser					KLHL14_uc010dmd.1_Missense_Mutation_p.R57S	p.R508S	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			7	1910	-			508			Kelch 4.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1522C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785822	0.70337	.	.	ENSG00000197705	ENST00000359358	T	0.74632	-0.86	5.87	4.95	0.65309	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.90604	0.7054	H	0.98048	4.135	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	D	0.93303	0.6678	10	0.87932	D	0	.	14.4538	0.67404	0.0:0.0:0.7502:0.2498	.	508	Q9P2G3	KLH14_HUMAN	S	508	ENSP00000352314:R508S	ENSP00000352314:R508S	R	-	1	0	KLHL14	28514196	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.137000	0.64789	2.779000	0.95612	0.655000	0.94253	CGT		PASS	0.378	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			33	65	33	65	---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66513659	66513659	+	Splice_Site	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr18:66513659G>C	ENST00000360242.5	+	4	1053		c.e4+1		CCDC102B_ENST00000358653.5_Intron|CCDC102B_ENST00000584156.1_Splice_Site|CCDC102B_ENST00000319445.6_Splice_Site|CCDC102B_ENST00000577772.1_Splice_Site	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B									p.?(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGTGAAAGAGGTATGGGGGAA	0.398																																						uc002lkk.2																			1	Unknown(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.e6+1		coiled-coil domain containing 102B							61.0	62.0	62.0					18																	66513659		2202	4300	6502	SO:0001630	splice_region_variant	79839							g.chr18:66513659G>C	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.936+1G>C	18.37:g.66513659G>C						CCDC102B_uc002lki.2_Splice_Site_p.E312_splice|CCDC102B_uc002lkj.1_Splice_Site_p.E312_splice	p.E312_splice	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			6	1159	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)						Q7Z467|Q8NDK7|Q9H5C1	Splice_Site	SNP	ENST00000360242.5	37	c.936_splice	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.982044	0.34942	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	.	.	.	5.56	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2515	0.60053	0.0:0.0:0.8411:0.1589	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC102B	64664639	1.000000	0.71417	0.983000	0.44433	0.565000	0.35776	4.468000	0.60162	1.418000	0.47098	0.650000	0.86243	.		PASS	0.398	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	Intron	13	28	13	28	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74563729	74563729	+	Splice_Site	SNP	A	A	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr18:74563729A>G	ENST00000253159.8	+	3	390		c.e3-1		ZNF236_ENST00000320610.9_Splice_Site|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus (GO:0071333)|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.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCTCCAAATAGCCACATCGA	0.398																																						uc002lmi.2																			2	Unknown(2)		lung(2)	ovary(4)	4						c.e3-2		zinc finger protein 236							65.0	63.0	63.0					18																	74563729		1845	4096	5941	SO:0001630	splice_region_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74563729A>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.193-1A>G	18.37:g.74563729A>G						ZNF236_uc002lmj.2_Splice_Site|ZNF236_uc002lmk.1_Splice_Site_p.P65_splice	p.P65_splice	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	3	391	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)						B2RTX9|Q9UL37	Splice_Site	SNP	ENST00000253159.8	37	c.193_splice	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578571	0.65878	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7595	0.78067	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF236	72692717	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.989000	0.93506	2.127000	0.65507	0.477000	0.44152	.		PASS	0.398	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		Intron	15	41	15	41	---	---	---	---
TMPRSS9	360200	broad.mit.edu	37	19	2410385	2410385	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:2410385C>G	ENST00000332578.3	+	8	1145	c.1145C>G	c.(1144-1146)tCc>tGc	p.S382C		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	382	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.S382C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		AAGGTGGACTCCTGCCAGGTG	0.567																																						uc010xgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1144-1146)TCC>TGC		transmembrane protease, serine 9							64.0	56.0	59.0					19																	2410385		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2410385C>G	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1145C>G	19.37:g.2410385C>G	ENSP00000330264:p.Ser382Cys					TMPRSS9_uc002lvv.1_Missense_Mutation_p.S416C	p.S382C	NM_182973	NP_892018	Q7Z410	TMPS9_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)	8	1145	+			382			Extracellular (Potential).|Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.1145C>G	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917058	0.73098	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.61274	0.12	3.65	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.307751	0.23834	N	0.044109	T	0.80874	0.4707	M	0.93420	3.415	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.86414	0.1750	10	0.87932	D	0	.	14.0806	0.64919	0.0:1.0:0.0:0.0	.	382;416	Q7Z410;E7EMP4	TMPS9_HUMAN;.	C	416;382	ENSP00000330264:S382C	ENSP00000330264:S382C	S	+	2	0	TMPRSS9	2361385	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	7.575000	0.82447	1.868000	0.54150	0.491000	0.48974	TCC		PASS	0.567	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		18	28	18	28	---	---	---	---
GADD45B	4616	broad.mit.edu	37	19	2477492	2477492	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:2477492C>T	ENST00000215631.4	+	4	608	c.376C>T	c.(376-378)Cac>Tac	p.H126Y		NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	126					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H126Y(1)		cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAACCCTCACACGGACGC	0.592																																						uc002lwb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)CAC>TAC		growth arrest and DNA-damage-inducible, beta							47.0	43.0	45.0					19																	2477492		2203	4300	6503	SO:0001583	missense	4616				activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress			g.chr19:2477492C>T	AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"""myeloid differentiation primary response"", ""growth arrest and DNA-damage-inducible beta"""	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.376C>T	19.37:g.2477492C>T	ENSP00000215631:p.His126Tyr						p.H126Y	NM_015675	NP_056490	O75293	GA45B_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)	4	598	+		Hepatocellular(1079;0.137)	126					A8KAM2|O75960|Q17R46	Missense_Mutation	SNP	ENST00000215631.4	37	c.376C>T	CCDS32868.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791718	0.50102	.	.	ENSG00000099860	ENST00000215631	T	0.42131	0.98	4.66	4.66	0.58398	.	0.242498	0.44097	D	0.000485	T	0.35799	0.0944	M	0.68952	2.095	0.80722	D	1	B	0.28850	0.225	B	0.26770	0.073	T	0.11966	-1.0566	10	0.08381	T	0.77	.	10.3457	0.43906	0.1964:0.8036:0.0:0.0	.	126	O75293	GA45B_HUMAN	Y	126	ENSP00000215631:H126Y	ENSP00000215631:H126Y	H	+	1	0	GADD45B	2428492	0.044000	0.20184	0.899000	0.35326	0.834000	0.47266	1.394000	0.34509	2.126000	0.65437	0.542000	0.68232	CAC		PASS	0.592	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451337.1	NM_015675		22	30	22	30	---	---	---	---
GNA15	2769	broad.mit.edu	37	19	3151776	3151776	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:3151776G>A	ENST00000262958.3	+	4	815	c.557G>A	c.(556-558)cGc>cAc	p.R186H	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	186					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R186H(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTCCGCAGCCGCATGCCCACC	0.647																																						uc002lxf.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(556-558)CGC>CAC		guanine nucleotide binding protein (G protein),							116.0	99.0	105.0					19																	3151776		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151776G>A		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.557G>A	19.37:g.3151776G>A	ENSP00000262958:p.Arg186His						p.R186H	NM_002068	NP_002059	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	4	815	+		Hepatocellular(1079;0.137)	186			GTP (By similarity).		E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.557G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974513	0.92919	.	.	ENSG00000060558	ENST00000262958	T	0.65916	-0.18	4.59	4.59	0.56863	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	U	0.000000	D	0.84202	0.5420	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89005	0.3424	10	0.87932	D	0	.	14.9063	0.70721	0.0:0.0:1.0:0.0	.	186	P30679	GNA15_HUMAN	H	186	ENSP00000262958:R186H	ENSP00000262958:R186H	R	+	2	0	GNA15	3102776	0.993000	0.37304	1.000000	0.80357	0.946000	0.59487	5.184000	0.65070	2.093000	0.63338	0.546000	0.68486	CGC		PASS	0.647	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		5	166	5	166	---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7082908	7082908	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:7082908C>A	ENST00000439035.2	+	8	665	c.425C>A	c.(424-426)gCa>gAa	p.A142E	ZNF557_ENST00000414706.1_Missense_Mutation_p.A149E|ZNF557_ENST00000252840.6_Missense_Mutation_p.A149E			Q8N988	ZN557_HUMAN	zinc finger protein 557	142					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.A149E(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CATCTTGGAGCAACACTCAAC	0.388																																						uc002mgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(424-426)GCA>GAA		zinc finger protein 557 isoform b							66.0	71.0	69.0					19																	7082908		2142	4258	6400	SO:0001583	missense	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082908C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.425C>A	19.37:g.7082908C>A	ENSP00000398965:p.Ala142Glu					ZNF557_uc002mga.2_Missense_Mutation_p.A149E|ZNF557_uc002mgc.2_Missense_Mutation_p.A149E	p.A142E	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	910	+			142					Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	c.425C>A	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.740840	0.00675	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.28895	1.59;1.59;1.59	1.6	-0.998	0.10212	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.00301	-1.68	0.22787	N	0.998731	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.32929	-0.9888	9	0.02654	T	1	.	0.0695	0.00021	0.2479:0.2011:0.2498:0.3012	.	142;149	Q8N988;Q8N988-2	ZN557_HUMAN;.	E	149;149;142	ENSP00000252840:A149E;ENSP00000404065:A149E;ENSP00000398965:A142E	ENSP00000252840:A149E	A	+	2	0	ZNF557	7033908	0.815000	0.29118	0.000000	0.03702	0.009000	0.06853	0.765000	0.26546	-0.308000	0.08792	0.313000	0.20887	GCA		PASS	0.388	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		4	73	4	73	---	---	---	---
OR10H1	26539	broad.mit.edu	37	19	15918067	15918067	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:15918067G>A	ENST00000334920.2	-	1	869	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L261L(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TTGGGCTTCAGGTAAATGACG	0.557																																						uc002nbq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(781-783)CTG>TTG		olfactory receptor, family 10, subfamily H,							123.0	94.0	104.0					19																	15918067		2203	4300	6503	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918067G>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.781C>T	19.37:g.15918067G>A							p.L261L	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	870	-			261			Extracellular (Potential).		Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.781C>T	CCDS12335.1																																																																																				PASS	0.557	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			3	78	3	78	---	---	---	---
LSM4	25804	broad.mit.edu	37	19	18420657	18420657	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:18420657G>C	ENST00000593829.1	-	4	412	c.159C>G	c.(157-159)ttC>ttG	p.F53L	LSM4_ENST00000252816.6_Missense_Mutation_p.F39L	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	53					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)	p.F53L(1)		endometrium(1)|large_intestine(2)|lung(3)	6						GCATCCGCCAGAACTTGTCCC	0.642																																						uc002niq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)TTC>TTG		U6 snRNA-associated Sm-like protein 4							47.0	39.0	41.0					19																	18420657		2203	4300	6503	SO:0001583	missense	25804				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding	g.chr19:18420657G>C	AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.159C>G	19.37:g.18420657G>C	ENSP00000469468:p.Phe53Leu						p.F53L	NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN			4	330	-			53						Missense_Mutation	SNP	ENST00000593829.1	37	c.159C>G	CCDS12374.1	.	.	.	.	.	.	.	.	.	.	g	16.93	3.257806	0.59321	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.47	2.24	0.28232	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	M	0.72353	2.195	0.80722	D	1	P	0.36171	0.541	P	0.45343	0.477	T	0.62383	-0.6866	9	0.87932	D	0	1.7308	6.9218	0.24393	0.2992:0.0:0.7008:0.0	.	53	Q9Y4Z0	LSM4_HUMAN	L	53	.	ENSP00000252816:F53L	F	-	3	2	LSM4	18281657	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.292000	0.33342	0.947000	0.37659	0.457000	0.33378	TTC		PASS	0.642	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1			8	19	8	19	---	---	---	---
ZNF431	170959	broad.mit.edu	37	19	21366407	21366407	+	Missense_Mutation	SNP	G	G	T	rs373075649		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:21366407G>T	ENST00000311048.7	+	5	1445	c.1301G>T	c.(1300-1302)gGc>gTc	p.G434V	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	434					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.G434V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GAAGAATGTGGCAAAGCTTTT	0.393																																						uc002npp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1300-1302)GGC>GTC		zinc finger protein 431							45.0	48.0	47.0					19																	21366407		2200	4295	6495	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366407G>T	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1301G>T	19.37:g.21366407G>T	ENSP00000308578:p.Gly434Val					ZNF431_uc010ecq.2_Missense_Mutation_p.G343V|ZNF431_uc010ecr.2_Missense_Mutation_p.G435V	p.G434V	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	1448	+			434			C2H2-type 10.		A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.1301G>T	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.028271	0.35797	.	.	ENSG00000196705	ENST00000311048	T	0.58358	0.34	1.04	-0.761	0.11038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72732	0.3497	M	0.92784	3.345	0.40384	D	0.979479	D	0.89917	1.0	D	0.97110	1.0	T	0.70421	-0.4876	9	0.87932	D	0	.	6.2866	0.21037	0.2:0.0:0.8:0.0	.	434	Q8TF32	ZN431_HUMAN	V	434	ENSP00000308578:G434V	ENSP00000308578:G434V	G	+	2	0	ZNF431	21158247	1.000000	0.71417	0.766000	0.31476	0.758000	0.43043	2.181000	0.42547	-0.396000	0.07703	-0.391000	0.06502	GGC		PASS	0.393	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		14	29	14	29	---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21477005	21477005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:21477005C>A	ENST00000356929.3	-	4	960	c.763G>T	c.(763-765)Gaa>Taa	p.E255*		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	191					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.E255*(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CCACATTCTTCACATTTGTAG	0.373																																						uc002npq.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(4)|skin(2)	6						c.(763-765)GAA>TAA		zinc finger protein 708							43.0	46.0	45.0					19																	21477005		2149	4269	6418	SO:0001587	stop_gained	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21477005C>A	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.763G>T	19.37:g.21477005C>A	ENSP00000349401:p.Glu255*					ZNF708_uc002npr.1_Nonsense_Mutation_p.E191*|ZNF708_uc010ecs.1_Nonsense_Mutation_p.E191*	p.E255*	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	961	-			255			C2H2-type 5.		Q6ZMR0	Nonsense_Mutation	SNP	ENST00000356929.3	37	c.763G>T	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	25.1	4.599285	0.87055	.	.	ENSG00000182141	ENST00000356929	.	.	.	1.05	-0.128	0.13506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	1.53	0.02533	0.3088:0.2925:0.0:0.3986	.	.	.	.	X	255	.	ENSP00000349401:E255X	E	-	1	0	ZNF708	21268845	0.000000	0.05858	0.970000	0.41538	0.967000	0.64934	-2.069000	0.01381	0.482000	0.27582	0.485000	0.47835	GAA		PASS	0.373	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		15	46	15	46	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34712411	34712411	+	Splice_Site	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:34712411G>C	ENST00000433627.5	+	9	1211		c.e9-1		LSM14A_ENST00000540746.2_Splice_Site|LSM14A_ENST00000544216.3_Splice_Site	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)						cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TTTTATAATAGAGAACGGAGA	0.408																																						uc002nvb.3																			1	Unknown(1)		lung(1)	skin(1)	1						c.e9-1		LSM14 homolog A isoform a							44.0	42.0	43.0					19																	34712411		2203	4300	6503	SO:0001630	splice_region_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34712411G>C	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1137-1G>C	19.37:g.34712411G>C						LSM14A_uc002nva.3_Splice_Site_p.R379_splice|LSM14A_uc010xru.1_Splice_Site_p.R338_splice|LSM14A_uc002nvc.3_Splice_Site_p.R185_splice	p.R379_splice	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN			9	1333	+	Esophageal squamous(110;0.162)							B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Splice_Site	SNP	ENST00000433627.5	37	c.1137_splice	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028442	0.75390	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	.	.	.	5.96	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2106	0.73222	0.0674:0.0:0.9326:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LSM14A	39404251	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.366000	0.97143	1.532000	0.49169	-0.140000	0.14226	.		PASS	0.408	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578	Intron	18	19	18	19	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35790486	35790486	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:35790486G>A	ENST00000392213.3	+	5	604	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	MAG_ENST00000597035.1_3'UTR|MAG_ENST00000361922.4_Missense_Mutation_p.V149M|MAG_ENST00000537831.2_Missense_Mutation_p.V124M	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	149	Ig-like C2-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.V149M(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCCCCAGAGGTGGTGGCAGG	0.682																																						uc002nyy.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(445-447)GTG>ATG		myelin associated glycoprotein isoform a							28.0	29.0	29.0					19																	35790486		2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35790486G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.445G>A	19.37:g.35790486G>A	ENSP00000376048:p.Val149Met					MAG_uc002nyx.1_Missense_Mutation_p.V149M|MAG_uc010eds.1_Missense_Mutation_p.V124M|MAG_uc002nyz.1_Missense_Mutation_p.V149M	p.V149M	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	594	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	149			Ig-like C2-type 1.|Extracellular (Potential).		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.445G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366514	0.24771	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	D;D;D	0.88046	-2.33;-2.33;-2.33	4.57	4.57	0.56435	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.175453	0.49305	D	0.000150	T	0.76062	0.3935	N	0.16478	0.41	0.33096	D	0.538628	B;B;P	0.35551	0.45;0.316;0.509	B;B;B	0.35470	0.125;0.101;0.203	T	0.81856	-0.0740	10	0.62326	D	0.03	.	8.4693	0.32975	0.1049:0.0:0.8951:0.0	.	186;149;149	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	M	186;149;149;124	ENSP00000355234:V149M;ENSP00000376048:V149M;ENSP00000440695:V124M	ENSP00000262624:V186M	V	+	1	0	MAG	40482326	1.000000	0.71417	0.993000	0.49108	0.326000	0.28443	4.532000	0.60608	2.361000	0.80049	0.306000	0.20318	GTG		PASS	0.682	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		7	14	7	14	---	---	---	---
PRODH2	58510	broad.mit.edu	37	19	36303141	36303141	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:36303141C>T	ENST00000301175.3	-	4	650	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	211					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.M211I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACACCGCAGCATAGCACCGA	0.672																																						uc002obx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(631-633)ATG>ATA		kidney and liver proline oxidase 1							71.0	70.0	70.0					19																	36303141		2203	4298	6501	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303141C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.633G>A	19.37:g.36303141C>T	ENSP00000301175:p.Met211Ile						p.M211I	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	651	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		211						Missense_Mutation	SNP	ENST00000301175.3	37	c.633G>A	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363907	0.41902	.	.	ENSG00000250799	ENST00000301175	T	0.26067	1.76	5.34	4.3	0.51218	.	.	.	.	.	T	0.25680	0.0625	M	0.73962	2.25	0.80722	D	1	P	0.38922	0.651	B	0.35859	0.212	T	0.05241	-1.0897	9	0.15499	T	0.54	.	10.2746	0.43501	0.0:0.908:0.0:0.092	.	211	Q9UF12	PROD2_HUMAN	I	211	ENSP00000301175:M211I	ENSP00000301175:M211I	M	-	3	0	PRODH2	40994981	1.000000	0.71417	0.996000	0.52242	0.269000	0.26545	4.200000	0.58433	1.245000	0.43885	0.650000	0.86243	ATG		PASS	0.672	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		32	45	32	45	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36322604	36322604	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:36322604G>T	ENST00000378910.5	-	24	3226	c.3227C>A	c.(3226-3228)tCc>tAc	p.S1076Y	NPHS1_ENST00000353632.6_Intron	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1076					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.S1076Y(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAGGCATTGGAGAGGAGCAG	0.647																																						uc002oby.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3226-3228)TCC>TAC		nephrin precursor							21.0	24.0	23.0					19																	36322604		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36322604G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3227C>A	19.37:g.36322604G>T	ENSP00000368190:p.Ser1076Tyr					NPHS1_uc010eem.1_Intron	p.S1076Y	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		24	3227	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		1076			Helical; (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.3227C>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197754	0.38806	.	.	ENSG00000161270	ENST00000378910	T	0.73047	-0.71	5.09	4.01	0.46588	.	0.501380	0.20435	N	0.092395	T	0.63943	0.2554	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	T	0.59451	-0.7452	10	0.02654	T	1	-22.355	11.6177	0.51099	0.0:0.1784:0.8216:0.0	.	1076	O60500	NPHN_HUMAN	Y	1076	ENSP00000368190:S1076Y	ENSP00000368190:S1076Y	S	-	2	0	NPHS1	41014444	1.000000	0.71417	0.984000	0.44739	0.116000	0.19942	2.937000	0.48979	2.662000	0.90505	0.456000	0.33151	TCC		PASS	0.647	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	8	5	8	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39914208	39914208	+	Silent	SNP	A	A	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:39914208A>G	ENST00000409794.3	+	18	3364	c.2514A>G	c.(2512-2514)gcA>gcG	p.A838A	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Silent_p.A779A|PLEKHG2_ENST00000425673.1_Silent_p.A809A|PLEKHG2_ENST00000378550.1_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	838					apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A796A(1)|p.A779A(1)|p.A838A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACTCGGGCATCAGCCAATG	0.697																																						uc010xuz.1																			3	Substitution - coding silent(3)		lung(3)	skin(2)|pancreas(1)|breast(1)	4						c.(2512-2514)GCA>GCG		common-site lymphoma/leukemia guanine nucleotide							11.0	14.0	13.0					19																	39914208		2194	4287	6481	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914208A>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2514A>G	19.37:g.39914208A>G						PLEKHG2_uc010xuy.1_Silent_p.A779A|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.A616A	p.A838A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		18	2839	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		838					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.2514A>G	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	A	4.360	0.066313	0.08388	.	.	ENSG00000090924	ENST00000205135	.	.	.	5.7	-4.71	0.03279	.	.	.	.	.	T	0.36166	0.0957	.	.	.	0.35979	D	0.835867	.	.	.	.	.	.	T	0.42849	-0.9427	4	.	.	.	.	1.8613	0.03189	0.2067:0.2555:0.3703:0.1674	.	.	.	.	R	706	.	.	H	+	2	0	PLEKHG2	44606048	0.000000	0.05858	0.425000	0.26659	0.309000	0.27889	-2.839000	0.00738	-0.550000	0.06183	0.533000	0.62120	CAT		PASS	0.697	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		3	8	3	8	---	---	---	---
GRIN2D	2906	broad.mit.edu	37	19	48945536	48945536	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:48945536G>T	ENST00000263269.3	+	12	2658	c.2570G>T	c.(2569-2571)gGc>gTc	p.G857V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	857					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.G857V(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTGGCCATGGGCCTGTCCCTG	0.622																																						uc002pjc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)	6						c.(2569-2571)GGC>GTC		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						125.0	120.0	122.0					19																	48945536		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945536G>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2570G>T	19.37:g.48945536G>T	ENSP00000263269:p.Gly857Val					GRIN2D_uc010elx.2_Missense_Mutation_p.G92V	p.G857V	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	12	2658	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	857			Helical; (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.2570G>T	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.613583	0.87359	.	.	ENSG00000105464	ENST00000263269	T	0.42900	0.96	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59573	-0.7429	10	0.66056	D	0.02	.	15.8442	0.78874	0.0:0.0:1.0:0.0	.	857	O15399	NMDE4_HUMAN	V	857	ENSP00000263269:G857V	ENSP00000263269:G857V	G	+	2	0	GRIN2D	53637348	1.000000	0.71417	0.993000	0.49108	0.768000	0.43524	7.602000	0.82796	2.352000	0.79861	0.450000	0.29827	GGC		PASS	0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			57	110	57	110	---	---	---	---
BCAT2	587	broad.mit.edu	37	19	49300560	49300560	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:49300560C>A	ENST00000316273.6	-	7	738	c.726G>T	c.(724-726)caG>caT	p.Q242H	BCAT2_ENST00000545387.2_Missense_Mutation_p.Q150H|BCAT2_ENST00000598162.1_Missense_Mutation_p.Q242H|BCAT2_ENST00000597011.1_Missense_Mutation_p.Q202H|BCAT2_ENST00000402551.1_Missense_Mutation_p.Q202H|BCAT2_ENST00000599246.1_Missense_Mutation_p.Q150H	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	242					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)	p.Q242H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TGAGTGCCTCCTGTTGCACTA	0.622																																						uc002pkr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(724-726)CAG>CAT		branched chain aminotransferase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						83.0	65.0	71.0					19																	49300560		2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49300560C>A	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.726G>T	19.37:g.49300560C>A	ENSP00000322991:p.Gln242His					BCAT2_uc002pkp.2_Missense_Mutation_p.Q202H|BCAT2_uc002pkq.3_Missense_Mutation_p.Q202H|BCAT2_uc002pks.2_Missense_Mutation_p.Q202H|BCAT2_uc002pkt.2_Missense_Mutation_p.Q150H|BCAT2_uc010emh.1_Missense_Mutation_p.Q242H|BCAT2_uc010emi.1_Missense_Mutation_p.Q150H	p.Q242H	NM_001190	NP_001181	O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	7	763	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	242					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.726G>T	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	2.158	-0.392906	0.04899	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.21543	2.0;2.0;2.0	5.06	1.74	0.24563	.	0.820350	0.11067	N	0.603383	T	0.20901	0.0503	M	0.68317	2.08	0.26379	N	0.976763	B;B;B;B	0.16396	0.017;0.007;0.003;0.007	B;B;B;B	0.17722	0.019;0.013;0.007;0.013	T	0.27365	-1.0076	10	0.41790	T	0.15	-1.5166	4.6556	0.12615	0.0:0.5647:0.1593:0.276	.	202;242;150;242	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	H	242;150;202	ENSP00000322991:Q242H;ENSP00000440973:Q150H;ENSP00000385161:Q202H	ENSP00000322991:Q242H	Q	-	3	2	BCAT2	53992372	0.000000	0.05858	0.678000	0.29963	0.089000	0.18198	-0.567000	0.05916	0.248000	0.21435	0.491000	0.48974	CAG		PASS	0.622	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			12	29	12	29	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55814114	55814114	+	Missense_Mutation	SNP	C	C	T	rs144130246		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:55814114C>T	ENST00000309383.1	+	10	1184	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	BRSK1_ENST00000590333.1_Missense_Mutation_p.R319W|BRSK1_ENST00000585418.1_Missense_Mutation_p.R303W|BRSK1_ENST00000326848.7_5'UTR	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	303			R -> W (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R303W(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCTGGCCGCCGGGTAGCCAT	0.632																																						uc002qkg.2																			3	Substitution - Missense(3)	p.R303W(1)	lung(2)|stomach(1)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(907-909)CGG>TGG		BR serine/threonine kinase 1		C	TRP/ARG	0,4406		0,0,2203	41.0	44.0	43.0		907	1.0	1.0	19	dbSNP_134	43	1,8597		0,1,4298	no	missense	BRSK1	NM_032430.1	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	303/779	55814114	1,13003	2203	4299	6502	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814114C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.907C>T	19.37:g.55814114C>T	ENSP00000310649:p.Arg303Trp					BRSK1_uc002qkf.2_Missense_Mutation_p.R319W|BRSK1_uc002qkh.2_5'UTR	p.R303W	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1184	+		Renal(1328;0.245)	303		R -> W (in a gastric adenocarcinoma sample; somatic mutation).			F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.907C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	15.21	2.766627	0.49574	0.0	1.16E-4	ENSG00000160469	ENST00000309383	T	0.72835	-0.69	4.68	1.01	0.19927	Protein kinase-like domain (1);	0.177472	0.34156	N	0.004205	T	0.78755	0.4333	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.96;0.982	T	0.79230	-0.1889	10	0.66056	D	0.02	.	12.6089	0.56540	0.7423:0.2577:0.0:0.0	.	303;319	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	W	303	ENSP00000310649:R303W	ENSP00000310649:R303W	R	+	1	2	BRSK1	60505926	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.965000	0.40471	0.426000	0.26116	0.650000	0.86243	CGG		PASS	0.632	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		4	95	4	95	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56952825	56952825	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr19:56952825G>C	ENST00000504904.3	-	7	2258	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.H641Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.H513Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	513					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.H513Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTTGGGCGAGGTGTGCACTCT	0.443																																						uc002qnd.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1537-1539)CAC>CAG		zinc finger protein 667							98.0	79.0	86.0					19																	56952825		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56952825G>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1539C>G	19.37:g.56952825G>C	ENSP00000439402:p.His513Gln					ZNF667_uc010etl.2_Missense_Mutation_p.H295Q|ZNF667_uc002qne.2_Missense_Mutation_p.H513Q|ZNF667_uc010etm.2_Missense_Mutation_p.H456Q	p.H513Q	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1701	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	513			C2H2-type 12.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.1539C>G	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	6.064	0.380078	0.11466	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.13196	2.61;2.61;2.61	4.81	-1.18	0.09617	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000676	T	0.11836	0.0288	N	0.20685	0.6	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.56163	0.734;0.793	T	0.32508	-0.9904	10	0.18710	T	0.47	-9.9342	8.6642	0.34110	0.5481:0.0:0.4519:0.0	.	641;513	E7EPS0;Q5HYK9	.;ZN667_HUMAN	Q	641;513;513;295;228	ENSP00000344699:H641Q;ENSP00000439402:H513Q;ENSP00000292069:H513Q	ENSP00000292069:H513Q	H	-	3	2	ZNF667	61644637	0.000000	0.05858	0.938000	0.37757	0.081000	0.17604	-0.567000	0.05916	-0.016000	0.14127	0.655000	0.94253	CAC		PASS	0.443	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		27	45	27	45	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16336978	16336978	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr20:16336978G>A	ENST00000354981.2	-	23	3775	c.3618C>T	c.(3616-3618)gtC>gtT	p.V1206V	KIF16B_ENST00000355755.3_Silent_p.V1206V|KIF16B_ENST00000378003.2_Intron	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1206	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.V1206V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACTCACCTTGACCTCAAACT	0.463																																						uc002wpg.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(3616-3618)GTC>GTT		kinesin-like motor protein C20orf23							133.0	101.0	112.0					20																	16336978		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16336978G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3618C>T	20.37:g.16336978G>A						KIF16B_uc002wpe.1_Silent_p.V588V|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Silent_p.V1155V	p.V1206V	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			23	3776	-			1206			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3618C>T	CCDS13122.1																																																																																				PASS	0.463	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		31	53	31	53	---	---	---	---
PYGB	5834	broad.mit.edu	37	20	25239970	25239970	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr20:25239970A>T	ENST00000216962.4	+	2	451	c.341A>T	c.(340-342)tAt>tTt	p.Y114F		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	114					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.Y114F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GAAGCCATCTATCAGGTACAG	0.532																																						uc002wup.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(340-342)TAT>TTT		brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)						87.0	85.0	85.0					20																	25239970		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25239970A>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.341A>T	20.37:g.25239970A>T	ENSP00000216962:p.Tyr114Phe						p.Y114F	NM_002862	NP_002853	P11216	PYGB_HUMAN			2	450	+			114					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.341A>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130391	0.77549	.	.	ENSG00000100994	ENST00000216962	D	0.92752	-3.1	4.38	4.38	0.52667	.	0.127206	0.56097	D	0.000039	D	0.90143	0.6920	L	0.59912	1.85	0.80722	D	1	B	0.11235	0.004	B	0.24394	0.053	D	0.88129	0.2837	10	0.56958	D	0.05	-15.1405	12.9876	0.58599	1.0:0.0:0.0:0.0	.	114	P11216	PYGB_HUMAN	F	114	ENSP00000216962:Y114F	ENSP00000216962:Y114F	Y	+	2	0	PYGB	25187970	1.000000	0.71417	0.996000	0.52242	0.890000	0.51754	8.564000	0.90726	1.968000	0.57251	0.533000	0.62120	TAT		PASS	0.532	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		4	66	4	66	---	---	---	---
CCM2L	140706	broad.mit.edu	37	20	30610466	30610466	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr20:30610466G>A	ENST00000300415.8	+	6	950	c.937G>A	c.(937-939)Gct>Act	p.A313T	CCM2L_ENST00000262659.8_Missense_Mutation_p.A313T			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	313								p.A313T(2)									GGGCCAGGACGCTGCAGAGGA	0.542																																						uc002wxf.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(937-939)GCT>ACT		hypothetical protein LOC140706							141.0	131.0	134.0					20																	30610466		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30610466G>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.937G>A	20.37:g.30610466G>A	ENSP00000300415:p.Ala313Thr					C20orf160_uc002wxg.2_5'UTR	p.A313T	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN			6	950	+			313					Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.937G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.868642	0.91587	.	.	ENSG00000101331	ENST00000300415;ENST00000262659;ENST00000452892	T;T;T	0.43294	0.95;0.95;0.95	5.41	5.41	0.78517	.	0.053661	0.85682	D	0.000000	T	0.65386	0.2686	M	0.69823	2.125	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.67745	-0.5591	10	0.66056	D	0.02	-15.7295	17.7483	0.88427	0.0:0.0:1.0:0.0	.	313	Q9NUG4-2	.	T	313;313;66	ENSP00000300415:A313T;ENSP00000262659:A313T;ENSP00000392448:A66T	ENSP00000262659:A313T	A	+	1	0	C20orf160	30074127	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	5.278000	0.65592	2.536000	0.85505	0.462000	0.41574	GCT		PASS	0.542	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		7	167	7	167	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40043904	40043904	+	Silent	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr20:40043904C>A	ENST00000373233.3	-	34	7038	c.6861G>T	c.(6859-6861)cgG>cgT	p.R2287R	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2287					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R2287R(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCTCCCTCTCCGCCTCCTCG	0.517																																						uc002xka.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(6859-6861)CGG>CGT		chromodomain helicase DNA binding protein 6							123.0	111.0	115.0					20																	40043904		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40043904C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6861G>T	20.37:g.40043904C>A						CHD6_uc002xjz.1_5'Flank	p.R2287R	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			34	7039	-		Myeloproliferative disorder(115;0.00425)	2287			Poly-Arg.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.6861G>T	CCDS13317.1																																																																																				PASS	0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			62	98	62	98	---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42789044	42789044	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr20:42789044G>A	ENST00000372980.3	-	2	1255	c.383C>T	c.(382-384)aCg>aTg	p.T128M		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	128	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.T128M(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTTGGTACGTCCCTGCGGG	0.721																																						uc002xli.1																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)ACG>ATG		junctophilin 2 isoform 1							21.0	12.0	15.0					20																	42789044		2117	4111	6228	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42789044G>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.383C>T	20.37:g.42789044G>A	ENSP00000362071:p.Thr128Met						p.T128M	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1256	-		Myeloproliferative disorder(115;0.0122)	128			MORN 5.|Gly-rich.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.383C>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839447	0.71488	.	.	ENSG00000149596	ENST00000372980	T	0.56444	0.46	3.35	3.35	0.38373	.	0.000000	0.85682	U	0.000000	T	0.62122	0.2402	L	0.37750	1.13	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.66468	-0.5916	10	0.59425	D	0.04	.	14.8735	0.70478	0.0:0.0:1.0:0.0	.	128	Q9BR39	JPH2_HUMAN	M	128	ENSP00000362071:T128M	ENSP00000362071:T128M	T	-	2	0	JPH2	42222458	1.000000	0.71417	0.980000	0.43619	0.722000	0.41435	9.168000	0.94781	1.703000	0.51240	0.313000	0.20887	ACG		PASS	0.721	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			9	13	9	13	---	---	---	---
SULF2	55959	broad.mit.edu	37	20	46301014	46301014	+	Missense_Mutation	SNP	C	C	T	rs143133611	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr20:46301014C>T	ENST00000359930.4	-	11	2355	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	SULF2_ENST00000361612.4_Missense_Mutation_p.E502K|SULF2_ENST00000484875.1_Missense_Mutation_p.E502K|SULF2_ENST00000467815.1_Missense_Mutation_p.E502K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	502					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.E502K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGCAGGCCTCGCTGCCCTGC	0.617													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15747	0.0		0.0	False		,,,				2504	0.0					uc002xto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1504-1506)GAG>AAG		sulfatase 2 isoform a precursor			LYS/GLU,LYS/GLU,LYS/GLU	8,4398	14.3+/-33.2	0,8,2195	69.0	65.0	66.0		1504,1504,1504	4.5	1.0	20	dbSNP_134	66	0,8600		0,0,4300	yes	missense,missense,missense	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	56,56,56	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	benign,benign,benign	502/871,502/871,502/868	46301014	8,12998	2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46301014C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1504G>A	20.37:g.46301014C>T	ENSP00000353007:p.Glu502Lys					SULF2_uc002xtr.2_Missense_Mutation_p.E502K|SULF2_uc002xtq.2_Missense_Mutation_p.E502K	p.E502K	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			11	1834	-			502					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1504G>A	CCDS13408.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	5.005	0.186556	0.09495	0.001816	0.0	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23	5.42	4.48	0.54585	Alkaline-phosphatase-like, core domain (1);	0.338574	0.35067	N	0.003465	D	0.93851	0.8033	N	0.19112	0.55	0.36516	D	0.86988	B;B	0.26975	0.165;0.127	B;B	0.19148	0.024;0.024	D	0.91254	0.5031	10	0.02654	T	1	-22.9231	9.316	0.37934	0.0:0.833:0.0:0.167	.	502;502	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	K	502	ENSP00000353007:E502K;ENSP00000418290:E502K;ENSP00000354662:E502K;ENSP00000418442:E502K	ENSP00000353007:E502K	E	-	1	0	SULF2	45734421	0.002000	0.14202	1.000000	0.80357	0.599000	0.36880	0.274000	0.18680	1.285000	0.44548	0.552000	0.68991	GAG		PASS	0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		33	44	33	44	---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49214214	49214214	+	Nonsense_Mutation	SNP	C	C	A	rs150234701		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr20:49214214C>A	ENST00000327979.2	-	14	2092	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	FAM65C_ENST00000045083.2_Nonsense_Mutation_p.E561*|FAM65C_ENST00000535356.1_Nonsense_Mutation_p.E565*			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	561								p.E561*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCAGGCTCTCGGCCGAGGTG	0.662																																						uc002xvm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1681-1683)GAG>TAG		hypothetical protein LOC140876							54.0	41.0	45.0					20																	49214214		2202	4300	6502	SO:0001587	stop_gained	140876							g.chr20:49214214C>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1681G>T	20.37:g.49214214C>A	ENSP00000332663:p.Glu561*					FAM65C_uc010zyt.1_Nonsense_Mutation_p.E565*|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Nonsense_Mutation_p.E561*	p.E561*	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			14	1999	-			561					Q5QPB6|Q9NQQ2	Nonsense_Mutation	SNP	ENST00000327979.2	37	c.1681G>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	39	7.856724	0.98528	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	.	.	.	4.74	3.75	0.43078	.	0.352339	0.31821	N	0.007019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-24.8909	13.3992	0.60872	0.0:0.7868:0.2131:0.0	.	.	.	.	X	561;561;565	.	ENSP00000045083:E561X	E	-	1	0	FAM65C	48647621	0.957000	0.32711	0.490000	0.27465	0.055000	0.15305	2.034000	0.41145	1.009000	0.39289	0.561000	0.74099	GAG		PASS	0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			9	13	9	13	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51870967	51870967	+	Missense_Mutation	SNP	G	G	T	rs138844500		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr20:51870967G>T	ENST00000371497.5	+	2	1857	c.970G>T	c.(970-972)Gtt>Ttt	p.V324F	TSHZ2_ENST00000603338.2_Missense_Mutation_p.V321F|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V321F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	324					multicellular organismal development (GO:0007275)|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.V324F(1)|p.V324I(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAAGAAACGCGTTTTTGATGT	0.458																																						uc002xwo.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(970-972)GTT>TTT		teashirt zinc finger homeobox 2							77.0	84.0	81.0					20																	51870967		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870967G>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.970G>T	20.37:g.51870967G>T	ENSP00000360552:p.Val324Phe						p.V324F	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1926	+			324					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.970G>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239323	0.58995	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.15372	2.43;2.43	5.8	4.85	0.62838	.	0.112140	0.64402	D	0.000010	T	0.28962	0.0719	L	0.34521	1.04	0.54753	D	0.999986	D	0.71674	0.998	P	0.61940	0.896	T	0.03325	-1.1048	10	0.72032	D	0.01	-0.5563	15.1363	0.72569	0.0679:0.0:0.9321:0.0	.	324	Q9NRE2	TSH2_HUMAN	F	324;321	ENSP00000360552:V324F;ENSP00000333114:V321F	ENSP00000333114:V321F	V	+	1	0	TSHZ2	51304374	1.000000	0.71417	0.214000	0.23707	0.558000	0.35554	4.532000	0.60608	1.451000	0.47736	0.643000	0.83706	GTT		PASS	0.458	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		73	91	73	91	---	---	---	---
ADAMTS1	9510	broad.mit.edu	37	21	28214679	28214679	+	Silent	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr21:28214679T>C	ENST00000284984.3	-	2	1510	c.1056A>G	c.(1054-1056)acA>acG	p.T352T		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	352	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T352T(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		AAAGAATTGCTGTGTCATAGT	0.493																																						uc002ymf.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1054-1056)ACA>ACG		ADAM metallopeptidase with thrombospondin type 1							85.0	59.0	68.0					21																	28214679		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28214679T>C	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1056A>G	21.37:g.28214679T>C							p.T352T	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	2	1511	-		Breast(209;0.000962)	352			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.1056A>G	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	T	4.828	0.153952	0.09185	.	.	ENSG00000154734	ENST00000451462	.	.	.	5.27	-10.5	0.00291	.	.	.	.	.	T	0.40498	0.1119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50750	-0.8791	4	.	.	.	.	4.2651	0.10759	0.2699:0.4327:0.19:0.1074	.	.	.	.	R	134	.	.	Q	-	2	0	ADAMTS1	27136550	0.000000	0.05858	0.011000	0.14972	0.678000	0.39670	-7.844000	0.00029	-3.419000	0.00167	-0.242000	0.12053	CAG		PASS	0.493	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			18	34	18	34	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869796	22869796	+	Silent	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr22:22869796T>C	ENST00000302097.3	-	2	411	c.159A>G	c.(157-159)tcA>tcG	p.S53S	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	53					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.S53S(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GTTTTGAATTTGAAATCATCC	0.438																																						uc002zwe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(157-159)TCA>TCG		zinc finger protein 280A							161.0	134.0	143.0					22																	22869796		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869796T>C	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.159A>G	22.37:g.22869796T>C						LOC96610_uc011aim.1_Intron	p.S53S	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	412	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	53						Silent	SNP	ENST00000302097.3	37	c.159A>G	CCDS13800.1																																																																																				PASS	0.438	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		32	68	32	68	---	---	---	---
RAB36	9609	broad.mit.edu	37	22	23487634	23487634	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr22:23487634C>T	ENST00000263116.2	+	1	122	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	RTDR1_ENST00000406876.1_5'Flank|RAB36_ENST00000341989.4_Missense_Mutation_p.R28C	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	28					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.R28C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GTCGACGATTCGTGTAGCCCG	0.677																																						uc002zwv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(82-84)CGT>TGT		RAB36, member RAS oncogene family							49.0	55.0	53.0					22																	23487634		2202	4299	6501	SO:0001583	missense	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23487634C>T	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.82C>T	22.37:g.23487634C>T	ENSP00000263116:p.Arg28Cys					RAB36_uc010gtw.1_Missense_Mutation_p.R28C	p.R28C	NM_004914	NP_004905	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	1	122	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		28					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.82C>T	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964430	0.34659	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.66815	-0.23;0.25	4.15	-0.559	0.11792	.	0.663244	0.12537	N	0.460299	T	0.40522	0.1120	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28744	-1.0034	10	0.72032	D	0.01	-0.0129	4.9501	0.14009	0.0:0.4212:0.3746:0.2042	.	28;28	O95755-2;O95755	.;RAB36_HUMAN	C	28	ENSP00000263116:R28C;ENSP00000343494:R28C	ENSP00000263116:R28C	R	+	1	0	RAB36	21817634	0.005000	0.15991	0.006000	0.13384	0.003000	0.03518	-0.136000	0.10405	0.016000	0.14998	-0.143000	0.13931	CGT		PASS	0.677	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		43	66	43	66	---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25251545	25251545	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr22:25251545G>C	ENST00000400359.4	+	8	706	c.699G>C	c.(697-699)atG>atC	p.M233I	SGSM1_ENST00000400358.4_Missense_Mutation_p.M233I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	233						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.M233I(2)		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						GTGGCAGCATGGATGACCGGC	0.572																																						uc003abg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(697-699)ATG>ATC		RUN and TBC1 domain containing 2 isoform 1							54.0	63.0	60.0					22																	25251545		2062	4182	6244	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25251545G>C	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.699G>C	22.37:g.25251545G>C	ENSP00000383212:p.Met233Ile					SGSM1_uc003abh.2_Missense_Mutation_p.M233I|SGSM1_uc010guu.1_Missense_Mutation_p.M233I|SGSM1_uc003abj.2_Missense_Mutation_p.M233I|SGSM1_uc003abi.1_Missense_Mutation_p.M208I|SGSM1_uc003abf.2_Missense_Mutation_p.M233I	p.M233I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			8	856	+			233					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.699G>C	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718666	0.68844	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06608	3.28;3.28	4.05	4.05	0.47172	.	0.196102	0.64402	D	0.000007	T	0.07188	0.0182	N	0.22421	0.69	0.80722	D	1	B;B;B;D;B	0.55605	0.048;0.131;0.42;0.972;0.028	B;B;B;P;B	0.46510	0.036;0.026;0.341;0.519;0.007	T	0.47471	-0.9115	10	0.33141	T	0.24	-8.5476	15.5962	0.76583	0.0:0.0:1.0:0.0	.	233;208;366;233;208	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	I	208;233;233	ENSP00000383211:M233I;ENSP00000383212:M233I	ENSP00000383211:M233I	M	+	3	0	SGSM1	23581545	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.845000	0.86875	1.982000	0.57802	0.478000	0.44815	ATG		PASS	0.572	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		14	24	14	24	---	---	---	---
BPIFC	254240	broad.mit.edu	37	22	32828430	32828430	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr22:32828430A>G	ENST00000397452.1	-	11	1189	c.1079T>C	c.(1078-1080)aTc>aCc	p.I360T	BPIFC_ENST00000300399.3_Missense_Mutation_p.I360T|BPIFC_ENST00000534972.1_Missense_Mutation_p.I84T|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	360						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.I360T(1)									GGAGGCAGGGATGTCCAGGGT	0.512																																						uc003amn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1078-1080)ATC>ACC		bactericidal/permeability-increasing							294.0	266.0	276.0					22																	32828430		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32828430A>G	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1079T>C	22.37:g.32828430A>G	ENSP00000380594:p.Ile360Thr					BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Missense_Mutation_p.I84T	p.I360T	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			10	1079	-			360					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1079T>C	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.127366	0.77549	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.08720	3.06;3.06;3.06	5.86	5.86	0.93980	.	0.269061	0.43919	D	0.000513	T	0.26448	0.0646	M	0.81802	2.56	0.32146	N	0.584813	D	0.62365	0.991	P	0.59825	0.864	T	0.35176	-0.9799	10	0.42905	T	0.14	-15.2879	13.7771	0.63059	1.0:0.0:0.0:0.0	.	360	Q8NFQ6	BPIFC_HUMAN	T	360;360;84	ENSP00000380594:I360T;ENSP00000300399:I360T;ENSP00000439123:I84T	ENSP00000300399:I360T	I	-	2	0	BPIFC	31158430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.779000	0.62375	2.244000	0.73946	0.528000	0.53228	ATC		PASS	0.512	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		52	109	52	109	---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37771493	37771493	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chr22:37771493C>G	ENST00000402918.2	-	3	867	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	28					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.E28Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TTGTCGCCCTCAATGAGCCAG	0.692																																						uc003asq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(82-84)GAG>CAG		leucine rich repeat containing 62							98.0	92.0	94.0					22																	37771493		2202	4299	6501	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37771493C>G	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.82G>C	22.37:g.37771493C>G	ENSP00000385277:p.Glu28Gln						p.E28Q	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	868	-	Melanoma(58;0.0574)		28			Extracellular (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.82G>C	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574960	0.65878	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.55052	0.54;0.54	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.76002	2.32	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.77416	-0.2596	10	0.72032	D	0.01	-25.4209	18.1325	0.89606	0.0:1.0:0.0:0.0	.	28	Q5R3F8	PPR29_HUMAN	Q	28	ENSP00000300147:E28Q;ENSP00000385277:E28Q	ENSP00000300147:E28Q	E	-	1	0	ELFN2	36101439	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.970000	0.70431	2.274000	0.75844	0.462000	0.41574	GAG		PASS	0.692	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		10	16	10	16	---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337109	13337109	+	Silent	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:13337109T>C	ENST00000380622.2	-	1	1409	c.945A>G	c.(943-945)acA>acG	p.T315T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	315					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.T315T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCGAACTTGTTGTTGGCCTTT	0.438																																						uc010ned.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(943-945)ACA>ACG		ataxin 3-like							186.0	152.0	162.0					X																	13337109		1568	3582	5150	SO:0001819	synonymous_variant	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337109T>C		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.945A>G	X.37:g.13337109T>C							p.T315T	NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN			1	1410	-			315					B2RNY8	Silent	SNP	ENST00000380622.2	37	c.945A>G	CCDS48080.1																																																																																				PASS	0.438	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		104	143	104	143	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18189190	18189190	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:18189190T>A	ENST00000380033.4	-	13	2248	c.2116A>T	c.(2116-2118)Agt>Tgt	p.S706C	BEND2_ENST00000380030.3_Missense_Mutation_p.S615C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	706	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.S706C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TAGACGTTACTTTGGACCAGG	0.438																																						uc004cyj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2116-2118)AGT>TGT		BEN domain containing 2							219.0	190.0	200.0					X																	18189190		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18189190T>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2116A>T	X.37:g.18189190T>A	ENSP00000369372:p.Ser706Cys					BEND2_uc010nfb.2_Missense_Mutation_p.S615C	p.S706C	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			13	2270	-			706			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2116A>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974514	0.34848	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.48201	0.82;0.82	5.49	4.29	0.51040	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	L	0.50333	1.59	0.27864	N	0.940302	D;D	0.63046	0.992;0.992	P;P	0.62382	0.901;0.901	T	0.53244	-0.8466	10	0.87932	D	0	-21.8366	8.9962	0.36055	0.1678:0.0:0.0:0.8322	.	615;706	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	C	706;615	ENSP00000369372:S706C;ENSP00000369369:S615C	ENSP00000369369:S615C	S	-	1	0	BEND2	18099111	1.000000	0.71417	0.047000	0.18901	0.016000	0.09150	3.356000	0.52269	0.675000	0.31264	0.451000	0.29950	AGT		PASS	0.438	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		118	207	118	207	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18915420	18915420	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:18915420G>T	ENST00000379942.4	-	30	3808	c.3143C>A	c.(3142-3144)aCg>aAg	p.T1048K	PHKA2_ENST00000481718.1_5'Flank|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1048					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.T1048K(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGAGGATGACGTGCCAGTGGG	0.657																																						uc004cyv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3142-3144)ACG>AAG		phosphorylase kinase, alpha 2 (liver)							71.0	50.0	57.0					X																	18915420		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18915420G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3143C>A	X.37:g.18915420G>T	ENSP00000369274:p.Thr1048Lys					PHKA2_uc004cyu.3_Missense_Mutation_p.T354K|PHKA2_uc010nfe.1_Missense_Mutation_p.T80K|PHKA2_uc010nff.1_RNA	p.T1048K	NM_000292	NP_000283	P46019	KPB2_HUMAN			30	3573	-	Hepatocellular(33;0.183)		1048					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3143C>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	0.940	-0.710005	0.03230	.	.	ENSG00000044446	ENST00000379942	D	0.90620	-2.7	5.39	4.53	0.55603	.	0.093375	0.85682	D	0.000000	D	0.85141	0.5629	L	0.47716	1.5	0.47037	D	0.999296	B	0.09022	0.002	B	0.11329	0.006	T	0.76788	-0.2830	10	0.06236	T	0.91	-5.4828	13.2737	0.60177	0.0785:0.0:0.9215:0.0	.	1048	P46019	KPB2_HUMAN	K	1048	ENSP00000369274:T1048K	ENSP00000369274:T1048K	T	-	2	0	PHKA2	18825341	1.000000	0.71417	0.538000	0.28064	0.147000	0.21601	5.973000	0.70456	1.053000	0.40415	0.436000	0.28706	ACG		PASS	0.657	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		19	48	19	48	---	---	---	---
PDHA1	5160	broad.mit.edu	37	X	19371288	19371288	+	Silent	SNP	G	G	T	rs141862527	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:19371288G>T	ENST00000422285.2	+	5	612	c.507G>T	c.(505-507)gcG>gcT	p.A169A	PDHA1_ENST00000379805.3_Silent_p.A169A|PDHA1_ENST00000379806.5_Silent_p.A207A|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000540249.1_Silent_p.A169A|PDHA1_ENST00000545074.1_Silent_p.A176A			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	169					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.A169A(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TCGTGGGAGCGCAGGTAGTCA	0.488																																						uc004czg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(505-507)GCG>GCT		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						175.0	131.0	146.0					X																	19371288		2203	4300	6503	SO:0001819	synonymous_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19371288G>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.507G>T	X.37:g.19371288G>T						PDHA1_uc004czh.3_Silent_p.A204A|PDHA1_uc011mjc.1_Silent_p.A173A|PDHA1_uc011mjd.1_Silent_p.A166A|PDHA1_uc010nfk.2_Silent_p.A166A|PDHA1_uc010nfl.2_5'Flank	p.A169A	NM_000284	NP_000275	P08559	ODPA_HUMAN			5	652	+	Hepatocellular(33;0.183)		169					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	c.507G>T	CCDS14192.1																																																																																				PASS	0.488	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			45	71	45	71	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19398259	19398259	+	Silent	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:19398259C>T	ENST00000338883.4	-	19	2567	c.2568G>A	c.(2566-2568)gaG>gaA	p.E856E	MAP3K15_ENST00000359173.3_Silent_p.E291E|MAP3K15_ENST00000469203.2_Silent_p.E688E|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	856	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.E331E(1)|p.E903E(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGCCTGCGGCTCACCAAGCT	0.532																																						uc004czk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(991-993)GAG>GAA		mitogen-activated protein kinase kinase kinase							57.0	47.0	51.0					X																	19398259		2203	4300	6503	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19398259C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2568G>A	X.37:g.19398259C>T						MAP3K15_uc004czj.1_Silent_p.E291E	p.E331E	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			20	2630	-	Hepatocellular(33;0.183)		856			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.993G>A																																																																																					PASS	0.532	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		12	24	12	24	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24733279	24733279	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:24733279G>T	ENST00000379059.3	+	6	481	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	POLA1_ENST00000379068.3_Missense_Mutation_p.D162Y	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	156					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.D156Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CTTGTCCAAGGATGGTCTGCT	0.383																																						uc004dbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(466-468)GAT>TAT		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						140.0	116.0	125.0					X																	24733279		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24733279G>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.466G>T	X.37:g.24733279G>T	ENSP00000368349:p.Asp156Tyr					POLA1_uc004dbm.2_Missense_Mutation_p.D162Y|POLA1_uc004dbn.2_Missense_Mutation_p.D20Y	p.D156Y	NM_016937	NP_058633	P09884	DPOLA_HUMAN			6	489	+			156					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.466G>T	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381166	0.82792	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.38887	1.11;1.11	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.70554	-0.4840	10	0.87932	D	0	-16.9882	16.3844	0.83500	0.0:0.0:1.0:0.0	.	162;156	A6NMQ1;P09884	.;DPOLA_HUMAN	Y	162;156	ENSP00000368358:D162Y;ENSP00000368349:D156Y	ENSP00000368349:D156Y	D	+	1	0	POLA1	24643200	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.473000	0.90410	2.499000	0.84300	0.422000	0.28245	GAT		PASS	0.383	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		62	106	62	106	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30237172	30237172	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:30237172G>T	ENST00000378988.4	+	2	576	c.475G>T	c.(475-477)Ggc>Tgc	p.G159C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	159	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.G159C(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCTCTGAGGGCCTCAGTGT	0.458																																						uc004dbz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(475-477)GGC>TGC		melanoma antigen family B, 2							53.0	48.0	50.0					X																	30237172		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237172G>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.475G>T	X.37:g.30237172G>T	ENSP00000368273:p.Gly159Cys						p.G159C	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	578	+			159			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.475G>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	6.164	0.398495	0.11696	.	.	ENSG00000099399	ENST00000378988	T	0.04551	3.6	3.27	-0.986	0.10252	.	0.573832	0.17841	N	0.160189	T	0.01156	0.0038	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44847	-0.9301	10	0.25751	T	0.34	.	3.6642	0.08250	0.0:0.4021:0.191:0.4069	.	159	O15479	MAGB2_HUMAN	C	159	ENSP00000368273:G159C	ENSP00000368273:G159C	G	+	1	0	MAGEB2	30147093	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.130000	0.10498	-0.377000	0.07930	-0.420000	0.06012	GGC		PASS	0.458	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		23	30	23	30	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32328381	32328381	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:32328381C>T	ENST00000357033.4	-	42	6141	c.5935G>A	c.(5935-5937)Gaa>Aaa	p.E1979K	DMD_ENST00000378677.2_Missense_Mutation_p.E1975K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1979					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E1979K(1)|p.E1975K(1)|p.E638K(1)|p.E1974K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCGTTTCTTCACGGACAGTG	0.368																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5935-5937)GAA>AAA		dystrophin Dp427m isoform							88.0	73.0	78.0					X																	32328381		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32328381C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5935G>A	X.37:g.32328381C>T	ENSP00000354923:p.Glu1979Lys					DMD_uc004dcw.2_Missense_Mutation_p.E635K|DMD_uc004dcx.2_Missense_Mutation_p.E638K|DMD_uc004dcz.2_Missense_Mutation_p.E1856K|DMD_uc004dcy.1_Missense_Mutation_p.E1975K|DMD_uc004ddb.1_Missense_Mutation_p.E1971K|DMD_uc010ngo.1_Intron	p.E1979K	NM_004006	NP_003997	P11532	DMD_HUMAN			42	6179	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1979			Spectrin 13.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5935G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878734	0.51801	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.60920	0.15;0.15	6.16	6.16	0.99307	.	0.000000	0.37857	U	0.001905	T	0.63745	0.2537	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.69078	0.996;0.997;0.997;0.997;0.997	D;D;D;D;D	0.79108	0.987;0.992;0.992;0.992;0.992	T	0.61451	-0.7060	10	0.30078	T	0.28	.	17.89	0.88869	0.0:1.0:0.0:0.0	.	1971;1979;1975;638;635	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1971;638;635;1975;1979;1979;1856	ENSP00000367948:E1975K;ENSP00000354923:E1979K	ENSP00000354923:E1979K	E	-	1	0	DMD	32238302	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.622000	0.67750	2.614000	0.88457	0.594000	0.82650	GAA		PASS	0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		20	27	20	27	---	---	---	---
TSPAN7	7102	broad.mit.edu	37	X	38546900	38546900	+	Silent	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:38546900C>A	ENST00000378482.2	+	7	906	c.729C>A	c.(727-729)gcC>gcA	p.A243A	TM4SF2_ENST00000465127.1_Silent_p.A273A|TSPAN7_ENST00000422612.2_Silent_p.A269A|TSPAN7_ENST00000545599.1_Silent_p.A217A|TSPAN7_ENST00000286824.6_Silent_p.A260A	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	243					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.A243A(1)|p.A238A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCATCACGGCCAATCAGTATG	0.493																																						uc004deg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(727-729)GCC>GCA		tetraspanin 7							131.0	100.0	111.0					X																	38546900		2202	4300	6502	SO:0001819	synonymous_variant	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38546900C>A	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.729C>A	X.37:g.38546900C>A						TSPAN7_uc011mkj.1_Silent_p.A269A|TSPAN7_uc011mkk.1_Silent_p.A260A|TSPAN7_uc004deh.2_Silent_p.A151A	p.A243A	NM_004615	NP_004606	P41732	TSN7_HUMAN			7	798	+			243			Cytoplasmic (Potential).		B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Silent	SNP	ENST00000378482.2	37	c.729C>A	CCDS14248.1																																																																																				PASS	0.493	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			19	35	19	35	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39922016	39922016	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:39922016C>G	ENST00000378444.4	-	9	4384	c.4156G>C	c.(4156-4158)Gag>Cag	p.E1386Q	BCOR_ENST00000397354.3_Missense_Mutation_p.E1352Q|BCOR_ENST00000378463.1_Missense_Mutation_p.E229Q|BCOR_ENST00000378455.4_Missense_Mutation_p.E1334Q|BCOR_ENST00000342274.4_Missense_Mutation_p.E1352Q	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1386					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E1352*(1)|p.E1352Q(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCGGCATTCTCCACGTAGTAT	0.587			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|central_nervous_system(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(4156-4158)GAG>CAG		BCL-6 interacting corepressor isoform c							103.0	74.0	84.0					X																	39922016		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922016C>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4156G>C	X.37:g.39922016C>G	ENSP00000367705:p.Glu1386Gln					BCOR_uc004dep.3_Missense_Mutation_p.E1352Q|BCOR_uc004deo.3_Missense_Mutation_p.E1334Q|BCOR_uc010nhb.2_Missense_Mutation_p.E94Q|BCOR_uc004dem.3_Missense_Mutation_p.E1352Q	p.E1386Q	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			9	4448	-			1386					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.4156G>C	CCDS48093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.31|19.31	3.802530|3.802530	0.70682|0.70682	.|.	.|.	ENSG00000183337|ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018|ENST00000427012	T;T;T;T;T;T;T|.	0.70164|.	-0.46;0.93;1.01;0.98;0.96;0.98;-0.43|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|.	.|.	.|.	.|.	T|T	0.56601|0.56601	0.1996|0.1996	L|L	0.27053|0.27053	0.805|0.805	0.51233|0.51233	D|D	0.999911|0.999911	P;P;P|.	0.45348|.	0.604;0.856;0.604|.	B;P;B|.	0.44921|.	0.264;0.464;0.264|.	T|T	0.51068|0.51068	-0.8752|-0.8752	9|5	0.56958|.	D|.	0.05|.	-10.6839|-10.6839	17.6816|17.6816	0.88245|0.88245	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1334;1386;1352|.	Q6W2J9-4;Q6W2J9;Q6W2J9-2|.	.;BCOR_HUMAN;.|.	Q|C	256;229;1334;1352;1386;1352;59|80	ENSP00000408006:E256Q;ENSP00000367724:E229Q;ENSP00000367716:E1334Q;ENSP00000380512:E1352Q;ENSP00000367705:E1386Q;ENSP00000345923:E1352Q;ENSP00000387552:E59Q|.	ENSP00000345923:E1352Q|.	E|W	-|-	1|3	0|0	BCOR|BCOR	39806960|39806960	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.852000|0.852000	0.48524|0.48524	5.038000|5.038000	0.64177|0.64177	2.562000|2.562000	0.86427|0.86427	0.600000|0.600000	0.82982|0.82982	GAG|TGG		PASS	0.587	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		13	37	13	37	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41056655	41056655	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:41056655G>C	ENST00000324545.8	+	29	4905	c.4272G>C	c.(4270-4272)gaG>gaC	p.E1424D	USP9X_ENST00000378308.2_Missense_Mutation_p.E1424D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1424					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.E1417D(1)|p.E1424D(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTATTGAAGAGACGATCTTAG	0.458																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.(4270-4272)GAG>GAC		ubiquitin specific protease 9, X-linked isoform							68.0	61.0	63.0					X																	41056655		1968	4161	6129	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41056655G>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4272G>C	X.37:g.41056655G>C	ENSP00000316357:p.Glu1424Asp					USP9X_uc004dfc.2_Missense_Mutation_p.E1424D	p.E1424D	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			29	4905	+			1424					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4272G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	8.170	0.791480	0.16258	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02631	4.22;4.23	5.3	2.6	0.31112	.	0.000000	0.85682	D	0.000000	T	0.02047	0.0064	L	0.29908	0.895	0.51233	D	0.999916	B;B	0.23249	0.082;0.008	B;B	0.24541	0.054;0.015	T	0.43097	-0.9412	10	0.02654	T	1	.	8.4494	0.32862	0.4262:0.0:0.5738:0.0	.	1424;1424	Q93008-1;Q93008	.;USP9X_HUMAN	D	1424	ENSP00000367558:E1424D;ENSP00000316357:E1424D	ENSP00000316357:E1424D	E	+	3	2	USP9X	40941599	1.000000	0.71417	0.976000	0.42696	0.338000	0.28826	1.867000	0.39499	0.177000	0.19895	-0.525000	0.04345	GAG		PASS	0.458	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		15	32	15	32	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41064718	41064718	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:41064718G>C	ENST00000324545.8	+	32	5620	c.4987G>C	c.(4987-4989)Gtg>Ctg	p.V1663L	USP9X_ENST00000378308.2_Missense_Mutation_p.V1663L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1663	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.V1656L(1)|p.V1663L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCAATACTATGTGCCCAGAGG	0.363																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.(4987-4989)GTG>CTG		ubiquitin specific protease 9, X-linked isoform							139.0	132.0	134.0					X																	41064718		2194	4294	6488	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41064718G>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4987G>C	X.37:g.41064718G>C	ENSP00000316357:p.Val1663Leu					USP9X_uc004dfc.2_Missense_Mutation_p.V1663L	p.V1663L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			32	5620	+			1663					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4987G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799827	0.90538	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.29917	1.55;1.55	5.37	5.37	0.77165	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.53617	1.68	0.80722	D	1	D;P	0.58268	0.982;0.888	P;P	0.51193	0.662;0.528	T	0.25082	-1.0142	10	0.45353	T	0.12	.	18.3946	0.90494	0.0:0.0:1.0:0.0	.	1663;1663	Q93008-1;Q93008	.;USP9X_HUMAN	L	1663	ENSP00000367558:V1663L;ENSP00000316357:V1663L	ENSP00000316357:V1663L	V	+	1	0	USP9X	40949662	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	9.455000	0.97625	2.371000	0.80710	0.523000	0.50628	GTG		PASS	0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		69	126	69	126	---	---	---	---
SYP	6855	broad.mit.edu	37	X	49055482	49055482	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:49055482C>A	ENST00000263233.4	-	2	119	c.47G>T	c.(46-48)gGg>gTg	p.G16V	SYP_ENST00000479808.1_Missense_Mutation_p.G16V|SYP-AS1_ENST00000433499.1_RNA|SYP_ENST00000538567.1_5'UTR	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	16					cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)	p.G16V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GAACTGACCCCCAGCCACCAG	0.632																																						uc004dmz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(46-48)GGG>GTG		synaptophysin							56.0	47.0	50.0					X																	49055482		2201	4300	6501	SO:0001583	missense	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49055482C>A	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.47G>T	X.37:g.49055482C>A	ENSP00000263233:p.Gly16Val					SYP_uc011mmz.1_5'UTR|SYP_uc004dna.1_Missense_Mutation_p.G10V	p.G16V	NM_003179	NP_003170	P08247	SYPH_HUMAN			2	63	-		all_lung(315;0.00016)	16			Cytoplasmic (Potential).		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	c.47G>T	CCDS14321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.21|18.21	3.573273|3.573273	0.65765|0.65765	.|.	.|.	ENSG00000102003|ENSG00000102003	ENST00000263233;ENST00000479808|ENST00000472598	T;T|T	0.69685|0.24908	-0.42;-0.42|1.83	4.33|4.33	4.33|4.33	0.51752|0.51752	.|.	0.155271|0.155271	0.43919|0.43919	D|D	0.000520|0.000520	T|T	0.29288|0.29288	0.0729|0.0729	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	P|.	0.48764|.	0.915|.	B|.	0.39339|.	0.297|.	T|T	0.03193|0.03193	-1.1062|-1.1062	10|7	0.45353|.	T|.	0.12|.	-5.5919|-5.5919	13.4749|13.4749	0.61303|0.61303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	16|.	P08247|.	SYPH_HUMAN|.	V|W	16|13	ENSP00000263233:G16V;ENSP00000418169:G16V|ENSP00000418387:G13W	ENSP00000263233:G16V|.	G|G	-|-	2|1	0|0	SYP|SYP	48942426|48942426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.444000|3.444000	0.52914|0.52914	1.740000|1.740000	0.51718|0.51718	0.492000|0.492000	0.49549|0.49549	GGG|GGG		PASS	0.632	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		17	30	17	30	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54565501	54565501	+	Silent	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:54565501G>A	ENST00000336470.4	+	3	187	c.48G>A	c.(46-48)aaG>aaA	p.K16K	GNL3L_ENST00000360845.2_Silent_p.K16K|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	16	Required for nucleolar localization.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.K16K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AAGGTTCCAAGGGCCACAAGA	0.438																																						uc004dth.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(46-48)AAG>AAA		guanine nucleotide binding protein-like 3							64.0	51.0	55.0					X																	54565501		2203	4300	6503	SO:0001819	synonymous_variant	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54565501G>A	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.48G>A	X.37:g.54565501G>A						GNL3L_uc004dti.2_RNA	p.K16K	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			3	187	+			16			Required for nucleolar localization.			Silent	SNP	ENST00000336470.4	37	c.48G>A	CCDS14360.1																																																																																				PASS	0.438	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		9	20	9	20	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54565513	54565513	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:54565513G>T	ENST00000336470.4	+	3	199	c.60G>T	c.(58-60)aaG>aaT	p.K20N	GNL3L_ENST00000360845.2_Missense_Mutation_p.K20N|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	20	Required for nucleolar localization.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.K20N(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCCACAAGAAGATAAGTTGGC	0.433																																						uc004dth.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(58-60)AAG>AAT		guanine nucleotide binding protein-like 3							70.0	55.0	60.0					X																	54565513		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54565513G>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.60G>T	X.37:g.54565513G>T	ENSP00000338573:p.Lys20Asn					GNL3L_uc004dti.2_RNA	p.K20N	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			3	199	+			20	KK->AA: Loss of nuclear location; when associated with 9-A-A-10. Loss of nuclear location; when associated with 34-A-A-35.		Required for nucleolar localization.			Missense_Mutation	SNP	ENST00000336470.4	37	c.60G>T	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279461	0.23307	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.22336	1.96;1.96	4.03	4.03	0.46877	.	0.364756	0.28146	N	0.016423	T	0.30008	0.0751	L	0.27053	0.805	0.37368	D	0.911527	D	0.57899	0.981	D	0.69824	0.966	T	0.18713	-1.0328	10	0.87932	D	0	-12.9404	10.5338	0.44992	0.0:0.0:1.0:0.0	.	20	Q9NVN8	GNL3L_HUMAN	N	20	ENSP00000338573:K20N;ENSP00000354091:K20N	ENSP00000338573:K20N	K	+	3	2	GNL3L	54582238	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	2.376000	0.44292	2.245000	0.73994	0.594000	0.82650	AAG		PASS	0.433	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		8	17	8	17	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54784647	54784647	+	Silent	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:54784647G>T	ENST00000218436.6	-	8	1889	c.1860C>A	c.(1858-1860)acC>acA	p.T620T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	620					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T620T(1)									TCTGTCTCCTGGTCTCCTCAC	0.567																																						uc004dtj.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(1858-1860)ACC>ACA		inter-alpha (globulin) inhibitor H5-like							56.0	43.0	47.0					X																	54784647		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784647G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1860C>A	X.37:g.54784647G>T							p.T620T	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	1890	-			620					A6NN03	Silent	SNP	ENST00000218436.6	37	c.1860C>A	CCDS14361.1																																																																																				PASS	0.567	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		20	38	20	38	---	---	---	---
PAGE2B	389860	broad.mit.edu	37	X	55102489	55102489	+	Silent	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:55102489G>C	ENST00000374971.1	+	2	67	c.15G>C	c.(13-15)gtG>gtC	p.V5V	PAGE2B_ENST00000374974.3_Silent_p.V5V	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	5								p.V5V(1)		lung(3)	3						GTGAGCATGTGAGAACAAGAT	0.363																																						uc004due.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(13-15)GTG>GTC		P antigen family, member 2B							113.0	92.0	99.0					X																	55102489		2203	4300	6503	SO:0001819	synonymous_variant	389860							g.chrX:55102489G>C		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.15G>C	X.37:g.55102489G>C							p.V5V	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN			2	67	+			5					A1L414	Silent	SNP	ENST00000374971.1	37	c.15G>C	CCDS35304.1																																																																																				PASS	0.363	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224		18	43	18	43	---	---	---	---
AMER1	139285	broad.mit.edu	37	X	63412739	63412739	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:63412739C>A	ENST00000330258.3	-	2	700	c.428G>T	c.(427-429)tGt>tTt	p.C143F	AMER1_ENST00000403336.1_Missense_Mutation_p.C143F|AMER1_ENST00000374869.3_Missense_Mutation_p.C143F	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	143					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.C143F(2)									AGATGTCTTACATCTGGAGCC	0.517																																						uc004dvo.2																			69	Whole gene deletion(67)|Substitution - Missense(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(427-429)TGT>TTT		family with sequence similarity 123B							39.0	40.0	40.0					X																	63412739		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412739C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.428G>T	X.37:g.63412739C>A	ENSP00000329117:p.Cys143Phe						p.C143F	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	701	-			143					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.428G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.268991	0.00259	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.16743	2.32;2.32;2.32	5.03	-5.19	0.02832	.	2.012330	0.01975	N	0.044428	T	0.13970	0.0338	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.33189	-0.9878	10	0.08837	T	0.75	11.1157	9.8714	0.41177	0.1391:0.1357:0.0:0.7252	.	143	Q5JTC6	F123B_HUMAN	F	143	ENSP00000364003:C143F;ENSP00000329117:C143F;ENSP00000384722:C143F	ENSP00000329117:C143F	C	-	2	0	FAM123B	63329464	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.929000	0.03976	-0.992000	0.03472	-0.192000	0.12808	TGT		PASS	0.517	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		16	61	16	61	---	---	---	---
SLC7A3	84889	broad.mit.edu	37	X	70148757	70148757	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:70148757C>A	ENST00000374299.3	-	3	610	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L	SLC7A3_ENST00000298085.4_Missense_Mutation_p.V156L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	156					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.V156L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACATGGGGCACGTGCAGTGCA	0.552																																						uc004dyn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(466-468)GTG>TTG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						77.0	70.0	72.0					X																	70148757		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148757C>A	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.466G>T	X.37:g.70148757C>A	ENSP00000363417:p.Val156Leu					SLC7A3_uc004dyo.2_Missense_Mutation_p.V156L	p.V156L	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			3	624	-	Renal(35;0.156)		156			Extracellular (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.466G>T	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504115	0.26949	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.87887	-2.31;-2.31	5.16	0.312	0.15837	Amino acid permease domain (1);	0.293312	0.38272	N	0.001749	T	0.73377	0.3579	N	0.26042	0.785	0.09310	N	1	B	0.16396	0.017	B	0.28385	0.089	T	0.55535	-0.8126	10	0.20519	T	0.43	.	1.7454	0.02961	0.127:0.3494:0.1365:0.3871	.	156	Q8WY07	CTR3_HUMAN	L	156	ENSP00000363417:V156L;ENSP00000298085:V156L	ENSP00000298085:V156L	V	-	1	0	SLC7A3	70065482	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.064000	0.11636	-0.284000	0.09102	0.436000	0.28706	GTG		PASS	0.552	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		42	42	42	42	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70602911	70602911	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:70602911A>C	ENST00000373790.4	+	12	1892	c.1841A>C	c.(1840-1842)cAg>cCg	p.Q614P	TAF1_ENST00000449580.1_Missense_Mutation_p.Q614P|TAF1_ENST00000423759.1_Missense_Mutation_p.Q635P|TAF1_ENST00000276072.3_Missense_Mutation_p.Q635P	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	614	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q635P(1)|p.Q614P(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAACTCCGGCAGTTCCATCGC	0.473																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(1840-1842)CAG>CCG		TBP-associated factor 1 isoform 2							50.0	47.0	48.0					X																	70602911		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70602911A>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1841A>C	X.37:g.70602911A>C	ENSP00000362895:p.Gln614Pro					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.Q635P	p.Q614P	NM_138923	NP_620278	P21675	TAF1_HUMAN			12	1892	+	Renal(35;0.156)	all_lung(315;0.000321)	614					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1841A>C	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.160572	0.57368	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.86	5.86	0.93980	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.056288	0.64402	D	0.000001	T	0.17874	0.0429	L	0.44542	1.39	0.58432	D	0.999997	P;P	0.41420	0.749;0.704	P;B	0.46885	0.53;0.409	T	0.01739	-1.1284	10	0.41790	T	0.15	.	10.4552	0.44546	0.8527:0.0:0.0:0.1473	.	614;635	P21675;P21675-2	TAF1_HUMAN;.	P	614;614;635;635	ENSP00000362895:Q614P;ENSP00000389000:Q614P;ENSP00000406549:Q635P;ENSP00000276072:Q635P	ENSP00000276072:Q635P	Q	+	2	0	TAF1	70519636	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.683000	0.68189	1.968000	0.57251	0.438000	0.28831	CAG		PASS	0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		23	37	23	37	---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71822070	71822070	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:71822070C>T	ENST00000373542.4	-	27	3130	c.2971G>A	c.(2971-2973)Gct>Act	p.A991T	PHKA1_ENST00000373539.3_Missense_Mutation_p.A991T|PHKA1_ENST00000373545.3_Missense_Mutation_p.A932T|PHKA1_ENST00000339490.3_Missense_Mutation_p.A991T|PHKA1_ENST00000541944.1_Missense_Mutation_p.A932T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	991					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.A991T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCTCCAACAGCACCAATCTCG	0.413																																						uc004eax.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2971-2973)GCT>ACT		phosphorylase kinase, alpha 1 (muscle) isoform							131.0	104.0	113.0					X																	71822070		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71822070C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2971G>A	X.37:g.71822070C>T	ENSP00000362643:p.Ala991Thr					PHKA1_uc004eay.3_Missense_Mutation_p.A991T|PHKA1_uc011mqi.1_Missense_Mutation_p.A932T	p.A991T	NM_002637	NP_002628	P46020	KPB1_HUMAN			27	3272	-	Renal(35;0.156)		991					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2971G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381193	0.42207	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90844	-2.74;-2.72;-2.7;-2.7;-2.73	5.83	5.83	0.93111	.	0.095545	0.64402	D	0.000001	D	0.87853	0.6282	M	0.68952	2.095	0.34338	D	0.688402	P;P;P	0.39665	0.682;0.486;0.57	B;B;B	0.34536	0.155;0.185;0.138	D	0.89040	0.3448	10	0.12766	T	0.61	-14.2821	16.2995	0.82801	0.0:1.0:0.0:0.0	.	932;991;991	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	T	932;991;932;991;991	ENSP00000362646:A932T;ENSP00000362643:A991T;ENSP00000441251:A932T;ENSP00000342469:A991T;ENSP00000362640:A991T	ENSP00000342469:A991T	A	-	1	0	PHKA1	71738795	0.796000	0.28864	1.000000	0.80357	0.992000	0.81027	1.055000	0.30467	2.454000	0.82982	0.513000	0.50165	GCT		PASS	0.413	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			19	44	19	44	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73061342	73061342	+	lincRNA	SNP	T	T	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:73061342T>G	ENST00000429829.1	-	0	11246					NR_001564.2				X inactive specific transcript (non-protein coding)																		TTTCAGTTATTACAAAGAACT	0.433																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							107.0	109.0	109.0					X																	73061342		876	1991	2867			7503							g.chrX:73061342T>G	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73061342T>G								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.11247A>C																																																																																					PASS	0.433	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		52	120	52	120	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91090821	91090822	+	Nonsense_Mutation	DNP	CT	CT	AA			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:91090821_91090822CT>AA	ENST00000373094.1	+	1	1163_1164	c.318_319CT>AA	c.(316-321)tgCTtt>tgAAtt	p.106_107CF>*I	PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.106_107CF>*I|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.106_107CF>*I|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.106_107CF>*I|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.106_107CF>*I|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.106_107CF>*I|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.106_107CF>*I|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.106_107CF>*I|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.106_107CF>*I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	106	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.F107I(3)|p.C106*(3)|p.C106_F107>*(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						ATGAGCATTGCTTTTATGAAGT	0.406																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			9	Substitution - Nonsense(3)|Substitution - Missense(3)|Complex - deletion inframe(3)		lung(9)	large_intestine(2)	2						c.(316-318)TGC>TGA|c.(319-321)TTT>ATT		protocadherin 11 X-linked isoform c																																				SO:0001587	stop_gained	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090821C>A|g.chrX:91090822T>A	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	Exception_encountered	X.37:g.91090821_91090822delinsAA	ENSP00000362186:p.C106_F107delins*I					PCDH11X_uc004efl.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efo.1_Nonsense_Mutation_p.C106*|PCDH11X_uc010nmv.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efm.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efn.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efh.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efj.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efl.1_Missense_Mutation_p.F107I|PCDH11X_uc004efo.1_Missense_Mutation_p.F107I|PCDH11X_uc010nmv.1_Missense_Mutation_p.F107I|PCDH11X_uc004efm.1_Missense_Mutation_p.F107I|PCDH11X_uc004efn.1_Missense_Mutation_p.F107I|PCDH11X_uc004efh.1_Missense_Mutation_p.F107I|PCDH11X_uc004efj.1_Missense_Mutation_p.F107I	p.C106*|p.F107I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	1163|1164	+			106|107			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000373094.1	37	c.318C>A|c.319T>A	CCDS14461.1																																																																																				PASS	0.406	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		67|66	157|156	66	156	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91642836	91642836	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:91642836C>T	ENST00000373094.1	+	5	4092	c.3247C>T	c.(3247-3249)Cat>Tat	p.H1083Y	PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1046Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1046Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1083Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1073Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1073Y|PCDH11X_ENST00000504220.2_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1083					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.H1083Y(1)		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						CAGCACATCTCATGGCCTGCC	0.552																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3247-3249)CAT>TAT		protocadherin 11 X-linked isoform c							199.0	153.0	169.0					X																	91642836		2201	4298	6499	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91642836C>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.3247C>T	X.37:g.91642836C>T	ENSP00000362186:p.His1083Tyr					PCDH11X_uc004efl.1_Missense_Mutation_p.H1073Y|PCDH11X_uc004efo.1_Missense_Mutation_p.H1046Y|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Missense_Mutation_p.H1083Y|PCDH11X_uc004efn.1_Missense_Mutation_p.H1073Y	p.H1083Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			5	4092	+			1083			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3247C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419507	0.25552	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.55234	0.62;0.57;0.53;0.59;0.66;0.53	2.83	0.942	0.19525	.	0.239958	0.25472	N	0.030428	T	0.55673	0.1935	L	0.43152	1.355	0.29398	N	0.862125	D;D;D;D;D	0.64830	0.994;0.994;0.994;0.994;0.99	P;P;P;P;P	0.61592	0.891;0.891;0.891;0.891;0.78	T	0.53528	-0.8426	10	0.62326	D	0.03	.	7.5506	0.27796	0.0:0.7652:0.0:0.2348	.	1046;1073;1083;1073;1083	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	Y	1083;1073;1046;1073;1083;1083;1046	ENSP00000362186:H1083Y;ENSP00000362189:H1073Y;ENSP00000362180:H1046Y;ENSP00000355105:H1073Y;ENSP00000384758:H1083Y;ENSP00000298274:H1046Y	ENSP00000298274:H1046Y	H	+	1	0	PCDH11X	91529492	1.000000	0.71417	0.961000	0.40146	0.342000	0.28953	3.811000	0.55620	-0.016000	0.14127	0.502000	0.49764	CAT		PASS	0.552	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		66	108	66	108	---	---	---	---
TRMT2B	79979	broad.mit.edu	37	X	100265657	100265657	+	Silent	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:100265657G>C	ENST00000372936.3	-	14	2200	c.1428C>G	c.(1426-1428)ggC>ggG	p.G476G	TRMT2B_ENST00000545398.1_Silent_p.G476G|TRMT2B_ENST00000372935.1_Silent_p.G476G|TRMT2B_ENST00000372939.1_Silent_p.G431G|TRMT2B_ENST00000338687.7_Silent_p.G431G	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	476						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)	p.G476G(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAAAGGGCTCGCCTAAGAGCT	0.502																																						uc004egq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1426-1428)GGC>GGG		TRM2 tRNA methyltransferase 2 homolog B							96.0	79.0	85.0					X																	100265657		2203	4300	6503	SO:0001819	synonymous_variant	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100265657G>C	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1428C>G	X.37:g.100265657G>C						TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.G476G|TRMT2B_uc004egs.2_3'UTR|TRMT2B_uc004egt.2_Silent_p.G476G|TRMT2B_uc004egu.2_Silent_p.G357G|TRMT2B_uc004egv.2_Silent_p.G431G	p.G476G	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN			13	1727	-			476					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Silent	SNP	ENST00000372936.3	37	c.1428C>G	CCDS14477.1																																																																																				PASS	0.502	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		49	60	49	60	---	---	---	---
TCEAL6	158931	broad.mit.edu	37	X	101396063	101396063	+	Missense_Mutation	SNP	C	C	T	rs368492884		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:101396063C>T	ENST00000372774.3	-	3	490	c.241G>A	c.(241-243)Gag>Aag	p.E81K	TCEAL6_ENST00000372773.1_Missense_Mutation_p.E81K	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E81K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GGCTTGCCCTCGCCTTGTGGC	0.607																																						uc004eiq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)GAG>AAG		transcription elongation factor A (SII)-like 6		C	LYS/GLU	1,3834		0,1,1631,571	99.0	96.0	97.0		241	0.8	0.0	X		97	0,6728		0,0,2428,1872	no	missense	TCEAL6	NM_001006938.2	56	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	possibly-damaging	81/184	101396063	1,10562	2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396063C>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.241G>A	X.37:g.101396063C>T	ENSP00000361860:p.Glu81Lys						p.E81K	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN			3	402	-			81					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.241G>A	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160912	0.57368	2.61E-4	0.0	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.25912	1.77;1.77	2.65	0.79	0.18613	.	0.491793	0.15175	N	0.276420	T	0.44561	0.1299	M	0.81942	2.565	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.19811	-1.0294	10	0.44086	T	0.13	.	4.314	0.10984	0.2239:0.6348:0.0:0.1413	.	81	Q6IPX3-2	.	K	81	ENSP00000361860:E81K;ENSP00000361859:E81K	ENSP00000361859:E81K	E	-	1	0	TCEAL6	101282719	0.025000	0.19082	0.001000	0.08648	0.272000	0.26649	0.131000	0.15870	0.079000	0.16929	0.468000	0.43344	GAG		PASS	0.607	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		76	91	76	91	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107976320	107976320	+	Silent	SNP	T	T	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:107976320T>C	ENST00000372129.2	-	1	3331	c.3255A>G	c.(3253-3255)ccA>ccG	p.P1085P	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1085					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.P1085P(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AACGGCTTTGTGGGCGTCTTC	0.552																																						uc004eoc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(3253-3255)CCA>CCG		insulin receptor substrate 4							104.0	101.0	102.0					X																	107976320		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976320T>C	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3255A>G	X.37:g.107976320T>C							p.P1085P	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	3288	-			1085						Silent	SNP	ENST00000372129.2	37	c.3255A>G	CCDS14544.1																																																																																				PASS	0.552	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		68	132	68	132	---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117540953	117540953	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:117540953G>T	ENST00000254029.3	+	10	1892	c.1497G>T	c.(1495-1497)caG>caT	p.Q499H	WDR44_ENST00000371825.3_Missense_Mutation_p.Q499H|WDR44_ENST00000371822.5_Missense_Mutation_p.Q474H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	499						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.Q499H(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATTTTGATCAGATCAAAGTGG	0.353																																						uc004eqn.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1495-1497)CAG>CAT		WD repeat domain 44 protein							190.0	170.0	177.0					X																	117540953		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117540953G>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1497G>T	X.37:g.117540953G>T	ENSP00000254029:p.Gln499His					WDR44_uc004eqo.2_Missense_Mutation_p.Q499H|WDR44_uc011mtr.1_Missense_Mutation_p.Q474H|WDR44_uc010nqi.2_Missense_Mutation_p.Q209H	p.Q499H	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			10	1922	+			499					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.1497G>T	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.16|14.16	2.452288|2.452288	0.43531|0.43531	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	.|T;T;T	.|0.81330	.|-1.48;-0.23;-0.09	5.75|5.75	4.88|4.88	0.63580|0.63580	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.049958	.|0.85682	.|D	.|0.000000	T|T	0.81959|0.81959	0.4933|0.4933	L|L	0.36672|0.36672	1.1|1.1	0.44798|0.44798	D|D	0.997801|0.997801	.|B;D;D;B	.|0.76494	.|0.232;0.999;0.999;0.409	.|B;D;D;B	.|0.72338	.|0.113;0.962;0.977;0.085	T|T	0.80714|0.80714	-0.1259|-0.1259	5|10	.|0.48119	.|T	.|0.1	-5.4288|-5.4288	6.3729|6.3729	0.21491|0.21491	0.3349:0.0:0.6651:0.0|0.3349:0.0:0.6651:0.0	.|.	.|474;499;499;499	.|F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.|.;.;.;WDR44_HUMAN	Y|H	399|474;499;499	.|ENSP00000360887:Q474H;ENSP00000254029:Q499H;ENSP00000360890:Q499H	.|ENSP00000254029:Q499H	D|Q	+|+	1|3	0|2	WDR44|WDR44	117424981|117424981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	2.182000|2.182000	0.42556|0.42556	1.181000|1.181000	0.42912|0.42912	0.544000|0.544000	0.68410|0.68410	GAT|CAG		PASS	0.353	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		64	109	64	109	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694097	119694097	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:119694097T>A	ENST00000404115.3	-	3	852	c.451A>T	c.(451-453)Aca>Tca	p.T151S	CUL4B_ENST00000371322.5_Missense_Mutation_p.T133S|CUL4B_ENST00000336592.6_Missense_Mutation_p.T138S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	151	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T133S(1)|p.T151S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGCTGAGATGTTGCAGCAGTT	0.478																																						uc004esw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(451-453)ACA>TCA		cullin 4B isoform 1							60.0	57.0	58.0					X																	119694097		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694097T>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.451A>T	X.37:g.119694097T>A	ENSP00000384109:p.Thr151Ser					CUL4B_uc004esv.2_Missense_Mutation_p.T133S	p.T151S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			3	888	-			151			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.451A>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	T	0.946	-0.707992	0.03230	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.66995	-0.23;-0.23;-0.24	5.53	4.39	0.52855	.	0.467952	0.19808	N	0.105590	T	0.34483	0.0899	N	0.03608	-0.345	0.22034	N	0.999402	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08973	-1.0696	9	.	.	.	-10.7757	2.1985	0.03917	0.2809:0.1629:0.0:0.5562	.	151;133	Q13620;Q13620-1	CUL4B_HUMAN;.	S	133;138;151	ENSP00000360373:T133S;ENSP00000338919:T138S;ENSP00000384109:T151S	.	T	-	1	0	CUL4B	119578125	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.778000	0.38614	1.855000	0.53841	0.430000	0.28490	ACA		PASS	0.478	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		48	58	48	58	---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125298856	125298856	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:125298856G>T	ENST00000360028.2	-	1	1078	c.1052C>A	c.(1051-1053)aCa>aAa	p.T351K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.T351K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	351								p.T351K(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGCACGCCTGTGCCACCCTC	0.627																																						uc004euk.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1051-1053)ACA>AAA		DDB1 and CUL4 associated factor 12-like 2							47.0	51.0	49.0					X																	125298856		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298856G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1052C>A	X.37:g.125298856G>T	ENSP00000353128:p.Thr351Lys						p.T351K	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1079	-			351			WD 4.		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1052C>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905699	0.17760	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.62498	0.02;0.02	4.05	2.23	0.28157	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.433517	0.17171	N	0.184279	T	0.52869	0.1761	L	0.60455	1.87	0.31920	N	0.613581	P	0.46706	0.883	B	0.41860	0.368	T	0.56607	-0.7951	10	0.28530	T	0.3	.	6.055	0.19807	0.1076:0.0:0.7055:0.1869	.	351	Q5VW00	DC122_HUMAN	K	351	ENSP00000441489:T351K;ENSP00000353128:T351K	ENSP00000353128:T351K	T	-	2	0	DCAF12L2	125126537	0.996000	0.38824	0.046000	0.18839	0.112000	0.19704	2.500000	0.45381	0.458000	0.26988	0.544000	0.68410	ACA		PASS	0.627	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		48	83	48	83	---	---	---	---
RP1-274L7.1	0	broad.mit.edu	37	X	129629150	129629150	+	lincRNA	SNP	G	G	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:129629150G>A	ENST00000458525.1	-	0	1045				FAM45B_ENST00000592932.1_RNA														p.L6L(1)									CGGCCGAGTTGGCGGACACTC	0.542																																						uc010nrh.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(16-18)TTG>TTA		hypothetical protein LOC404636							62.0	61.0	62.0					X																	129629150		2203	4300	6503			55855							g.chrX:129629150G>A																													X.37:g.129629150G>A						uc004evu.2_RNA	p.L6L	NM_207009	NP_996892				all cancers(201;0.0293)	1	236	+									Silent	SNP	ENST00000458525.1	37	c.18G>A																																																																																					PASS	0.542	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1			26	42	26	42	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134987551	134987551	+	Splice_Site	SNP	C	C	G	rs147659975		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:134987551C>G	ENST00000370709.3	+	4	454	c.454C>G	c.(454-456)Cat>Gat	p.H152D	SAGE1_ENST00000324447.3_Splice_Site_p.H152D|SAGE1_ENST00000535938.1_Splice_Site_p.H152D|SAGE1_ENST00000537770.1_Splice_Site_p.H152D			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	152						nucleus (GO:0005634)		p.H152D(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CAGGGATCTGCGTATGTCTGC	0.408																																						uc004ezh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(454-456)CAT>GAT		sarcoma antigen 1							161.0	114.0	130.0					X																	134987551		2203	4300	6503	SO:0001630	splice_region_variant	55511							g.chrX:134987551C>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.454+1C>G	X.37:g.134987551C>G						SAGE1_uc010nry.1_Missense_Mutation_p.H121D|SAGE1_uc011mvv.1_Missense_Mutation_p.H152D	p.H152D	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			5	621	+	Acute lymphoblastic leukemia(192;0.000127)		152					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.454C>G	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	1.054	-0.674947	0.03378	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.38722	1.28;1.28;1.12;1.28	0.744	-1.49	0.08718	.	0.154328	0.41823	U	0.000811	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.18968	0.01;0.032	B;B	0.15484	0.013;0.012	T	0.06427	-1.0827	9	0.39692	T	0.17	.	.	.	.	.	152;152	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	D	152	ENSP00000323191:H152D;ENSP00000445959:H152D;ENSP00000438276:H152D;ENSP00000359743:H152D	ENSP00000323191:H152D	H	+	1	0	SAGE1	134815217	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-2.677000	0.00839	-1.077000	0.03121	-0.848000	0.03037	CAT		PASS	0.408	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	Missense_Mutation	42	129	42	129	---	---	---	---
MIR513A2	574510	broad.mit.edu	37	X	146307450	146307450	+	RNA	SNP	G	G	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:146307450G>T	ENST00000385249.1	-	0	20					NR_030232.1				microRNA 513a-2																		actgcacactgaatggctgaa	0.418																																						hsa-mir-513a-2|MI0003192																			0					0															124.0	93.0	102.0					X																	146307450		1568	3582	5150			574510							g.chrX:146307450G>T			Xq27.3	2011-09-12	2008-01-07	2008-12-18	ENSG00000207984	ENSG00000207984		"""ncRNAs / Micro RNAs"""	32142	non-coding RNA	RNA, micro			"""microRNA 513-2"""	MIRN513-2, MIRN513A-2, MIRN513A2			Standard	NR_030232		Approved	hsa-mir-513-2					X.37:g.146307450G>T																-									RNA	SNP	ENST00000385249.1	37	c.21G>T																																																																																					PASS	0.418	MIR513A2-201	KNOWN	basic	miRNA	miRNA		NR_030232		12	13	12	13	---	---	---	---
IDS	3423	broad.mit.edu	37	X	148586591	148586591	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:148586591G>C	ENST00000340855.6	-	1	286	c.77C>G	c.(76-78)tCc>tGc	p.S26C	IDS_ENST00000370441.4_Missense_Mutation_p.S26C|IDS_ENST00000370443.4_Missense_Mutation_p.S26C|IDS_ENST00000422081.2_Intron|IDS_ENST00000490775.1_5'Flank|IDS_ENST00000428056.2_Missense_Mutation_p.S26C|IDS_ENST00000541269.1_Intron|IDS_ENST00000427113.2_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	26					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)	p.S26C(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGCGTTTCGGATCCGAGGGC	0.657																																						uc011mxe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)TCC>TGC		iduronate-2-sulfatase isoform a precursor							97.0	72.0	81.0					X																	148586591		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148586591G>C	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.77C>G	X.37:g.148586591G>C	ENSP00000339801:p.Ser26Cys					IDS_uc011mxf.1_Translation_Start_Site|IDS_uc011mxg.1_Translation_Start_Site|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Missense_Mutation_p.S26C|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Missense_Mutation_p.S26C	p.S26C	NM_000202	NP_000193	P22304	IDS_HUMAN			1	275	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		26					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.77C>G	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	G	5.187	0.220100	0.09863	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056;ENST00000521702	D;D;D;D;D	0.99470	-5.67;-5.68;-5.65;-5.96;-4.96	3.33	-0.782	0.10961	.	1.453530	0.04320	N	0.350622	D	0.96987	0.9016	N	0.14661	0.345	0.09310	N	1	B;P;P	0.36438	0.022;0.547;0.553	B;B;B	0.39379	0.01;0.298;0.125	D	0.96677	0.9501	10	0.49607	T	0.09	.	1.6457	0.02761	0.2385:0.1557:0.4479:0.1579	.	26;26;26	O60597;P22304-2;P22304	.;.;IDS_HUMAN	C	26	ENSP00000339801:S26C;ENSP00000359470:S26C;ENSP00000359472:S26C;ENSP00000390241:S26C;ENSP00000429745:S26C	ENSP00000339801:S26C	S	-	2	0	IDS	148394495	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.751000	0.26348	-0.704000	0.05042	-3.996000	0.00014	TCC		PASS	0.657	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			22	58	22	58	---	---	---	---
ITM2A	9452	broad.mit.edu	37	X	78618459	78618459	+	Frame_Shift_Del	DEL	T	T	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:78618459delT	ENST00000373298.2	-	3	564	c.421delA	c.(421-423)attfs	p.I142fs	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Frame_Shift_Del_p.I98fs	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	142	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCATGAATAATTGCTGCAGGG	0.408																																						uc004edh.2																			0				lung(2)	2						c.(421-423)ATTfs		integral membrane protein 2A							86.0	75.0	79.0					X																	78618459		2203	4300	6503	SO:0001589	frameshift_variant	9452					integral to membrane	protein binding	g.chrX:78618459delT	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.421delA	X.37:g.78618459delT	ENSP00000362395:p.Ile142fs					ITM2A_uc011mqr.1_Frame_Shift_Del_p.I97fs	p.I141fs	NM_004867	NP_004858	O43736	ITM2A_HUMAN			3	756	-			141			BRICHOS.		B2R7X5|B4E062|Q6IBC9	Frame_Shift_Del	DEL	ENST00000373298.2	37	c.421delA	CCDS14444.1																																																																																					0.408	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		42	24	42	24	---	---	---	---
DNASE1L1	1774	broad.mit.edu	37	X	153633251	153633251	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a25de54e-c13d-4973-864a-e307fbe7324a	4413b484-331d-439c-b762-73518802dc68	g.chrX:153633251C>G	ENST00000393638.1	-	4	515	c.229G>C	c.(229-231)Gat>Cat	p.D77H	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.D77H	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	77					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)	p.D77H(1)		lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGAGCCATCAAATCTGCCA	0.587																																						uc004fks.1																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GAT>CAT		deoxyribonuclease I-like 1 precursor							38.0	36.0	37.0					X																	153633251		2202	4300	6502	SO:0001583	missense	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153633251C>G	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.229G>C	X.37:g.153633251C>G	ENSP00000377255:p.Asp77His					DNASE1L1_uc004fkt.1_Missense_Mutation_p.D77H|DNASE1L1_uc004fku.1_Missense_Mutation_p.D77H|DNASE1L1_uc004fkv.1_Missense_Mutation_p.D77H|DNASE1L1_uc004fkw.1_Missense_Mutation_p.D77H	p.D77H	NM_006730	NP_006721	P49184	DNSL1_HUMAN			4	420	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		77					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.229G>C	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	C	4.642	0.119306	0.08881	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000451865;ENST00000424626	T;T;T;T;T;T;T;T	0.81247	0.73;0.73;0.73;0.73;0.73;0.73;-1.47;1.49	4.31	2.44	0.29823	Endonuclease/exonuclease/phosphatase (2);	0.368951	0.26563	U	0.023677	T	0.74382	0.3709	M	0.70595	2.14	0.09310	N	1	B	0.24258	0.1	B	0.24701	0.055	T	0.64495	-0.6394	10	0.44086	T	0.13	-10.9502	3.9648	0.09426	0.2374:0.6347:0.0:0.1279	.	77	P49184	DNSL1_HUMAN	H	77	ENSP00000358824:D77H;ENSP00000377255:D77H;ENSP00000014935:D77H;ENSP00000358823:D77H;ENSP00000358822:D77H;ENSP00000309168:D77H;ENSP00000393346:D77H;ENSP00000393000:D77H	ENSP00000014935:D77H	D	-	1	0	DNASE1L1	153286445	0.000000	0.05858	0.091000	0.20842	0.151000	0.21798	0.976000	0.29462	0.613000	0.30089	0.456000	0.33151	GAT		PASS	0.587	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			28	39	28	39	---	---	---	---
