#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_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
ARHGEF16	27237	broad.mit.edu	37	1	3395016	3395016	+	Missense_Mutation	SNP	G	G	A	rs201826500	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:3395016G>A	ENST00000378378.4	+	12	2059	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A264T|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A256T|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A264T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	552	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCAGGACTACGCCCAGATGAA	0.657													G|||	5	0.000998403	0.0038	0.0	5008	,	,		17737	0.0		0.0	False		,,,				2504	0.0					uc001akg.3																			0				ovary(1)	1						c.(1654-1656)GCC>ACC		Rho guanine exchange factor 16		G	THR/ALA	2,4394	2.1+/-5.4	0,2,2196	94.0	86.0	89.0		1654	5.7	0.7	1		89	0,8582		0,0,4291	yes	missense	ARHGEF16	NM_014448.3	58	0,2,6487	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	552/710	3395016	2,12976	2198	4291	6489	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3395016G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1654G>A	1.37:g.3395016G>A	ENSP00000367629:p.Ala552Thr					ARHGEF16_uc001aki.2_Missense_Mutation_p.A264T|ARHGEF16_uc001akj.2_Missense_Mutation_p.A264T|ARHGEF16_uc010nzh.1_Missense_Mutation_p.A256T	p.A552T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	12	1902	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	552			PH.		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1654G>A	CCDS46.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.9	4.071151	0.76301	4.55E-4	0.0	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.057684	0.64402	D	0.000002	D	0.85733	0.5765	M	0.87547	2.89	0.80722	D	1	D;D	0.57257	0.977;0.979	P;P	0.55713	0.782;0.727	D	0.87633	0.2517	10	0.62326	D	0.03	-28.8918	18.0065	0.89211	0.0:0.0:1.0:0.0	.	256;552	B4DJM7;Q5VV41	.;ARHGG_HUMAN	T	552;264;264;256	ENSP00000367629:A552T;ENSP00000367624:A264T;ENSP00000367622:A264T;ENSP00000408887:A256T	ENSP00000367622:A264T	A	+	1	0	ARHGEF16	3384876	1.000000	0.71417	0.743000	0.31040	0.520000	0.34377	5.337000	0.65941	2.694000	0.91930	0.561000	0.74099	GCC		0.657	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448	
HCRTR1	3061	broad.mit.edu	37	1	32084903	32084903	+	Missense_Mutation	SNP	G	G	A	rs200094994		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:32084903G>A	ENST00000373706.5	+	1	263	c.110G>A	c.(109-111)cGc>cAc	p.R37H	HCRTR1_ENST00000373705.1_Missense_Mutation_p.R37H|HCRTR1_ENST00000403528.2_Missense_Mutation_p.R37H|HCRTR1_ENST00000468521.1_3'UTR			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	37					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TATCTGTGGCGCGATTATCTG	0.607																																						uc009vtx.2																			0				ovary(1)	1						c.(109-111)CGC>CAC		orexin receptor 1							149.0	151.0	150.0					1																	32084903		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32084903G>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.110G>A	1.37:g.32084903G>A	ENSP00000362810:p.Arg37His					HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Missense_Mutation_p.A11T|HCRTR1_uc001btd.2_Missense_Mutation_p.R37H|HCRTR1_uc010ogl.1_Missense_Mutation_p.R37H	p.R37H	NM_001525	NP_001516	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	3	495	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	37			Extracellular (Potential).		A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.110G>A	CCDS344.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412097	0.42817	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.60797	0.16;0.16;0.4	3.91	2.99	0.34606	.	0.070601	0.52532	D	0.000080	T	0.46190	0.1380	L	0.43923	1.385	0.34593	D	0.71569	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.52200	-0.8607	10	0.33940	T	0.23	.	10.1337	0.42693	0.1043:0.0:0.8957:0.0	.	37;37	A6NMV7;O43613	.;OX1R_HUMAN	H	37	ENSP00000384387:R37H;ENSP00000362810:R37H;ENSP00000362809:R37H	ENSP00000362809:R37H	R	+	2	0	HCRTR1	31857490	0.917000	0.31117	0.988000	0.46212	0.961000	0.63080	1.206000	0.32321	0.924000	0.37069	-0.137000	0.14449	CGC		0.607	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525	
KANK4	163782	broad.mit.edu	37	1	62740564	62740564	+	Missense_Mutation	SNP	C	C	T	rs376267940		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:62740564C>T	ENST00000371153.4	-	3	590	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	71						cytoplasm (GO:0005737)		p.R71Q(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGAAGTTTCGGGGCAGAGT	0.557																																						uc001dah.3																			3	Substitution - Missense(3)		skin(2)|endometrium(1)	ovary(3)|skin(2)|lung(1)	6						c.(211-213)CGA>CAA		ankyrin repeat domain 38		C	GLN/ARG	0,4406		0,0,2203	129.0	136.0	133.0		212	5.1	1.0	1		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	KANK4	NM_181712.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	71/996	62740564	1,13005	2203	4300	6503	SO:0001583	missense	163782							g.chr1:62740564C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.212G>A	1.37:g.62740564C>T	ENSP00000360195:p.Arg71Gln					KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.R71Q	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	589	-			71					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.212G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592925	0.96602	0.0	1.16E-4	ENSG00000132854	ENST00000371153	T	0.68331	-0.32	5.13	5.13	0.70059	.	0.000000	0.31519	N	0.007520	T	0.80969	0.4726	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80415	-0.1392	10	0.46703	T	0.11	-11.0029	18.7902	0.91971	0.0:1.0:0.0:0.0	.	71	Q5T7N3	KANK4_HUMAN	Q	71	ENSP00000360195:R71Q	ENSP00000360195:R71Q	R	-	2	0	KANK4	62513152	0.996000	0.38824	1.000000	0.80357	0.981000	0.71138	6.860000	0.75473	2.665000	0.90641	0.563000	0.77884	CGA		0.557	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	
TGFBR3	7049	broad.mit.edu	37	1	92224221	92224221	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:92224221C>T	ENST00000525962.1	-	3	394	c.333G>A	c.(331-333)gtG>gtA	p.V111V	TGFBR3_ENST00000370399.2_Silent_p.V111V|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000212355.4_Silent_p.V111V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	111					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCAGATGCCACACCAGGGGGT	0.507																																						uc001doh.2																			0				ovary(3)	3						c.(331-333)GTG>GTA		transforming growth factor, beta receptor III							135.0	130.0	131.0					1																	92224221		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92224221C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.333G>A	1.37:g.92224221C>T						TGFBR3_uc009wde.2_Translation_Start_Site|TGFBR3_uc010osy.1_Silent_p.V69V|TGFBR3_uc001doi.2_Silent_p.V111V|TGFBR3_uc001doj.2_Silent_p.V111V	p.V111V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	4	799	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	111			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.333G>A	CCDS30770.1																																																																																				0.507	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
PSRC1	84722	broad.mit.edu	37	1	109823399	109823399	+	Splice_Site	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:109823399C>T	ENST00000438534.2	-	5	1132	c.994G>A	c.(994-996)Gtt>Att	p.V332I	PSRC1_ENST00000409138.2_Splice_Site_p.V332I|PSRC1_ENST00000369904.3_Splice_Site_p.G268D|PSRC1_ENST00000369907.3_Splice_Site_p.V302I|PSRC1_ENST00000369909.2_Splice_Site_p.V302I|PSRC1_ENST00000369903.2_Splice_Site_p.V302I|PSRC1_ENST00000409267.1_Splice_Site_p.V302I	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	332	Pro/Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GACCTCTTACCCTTGTGTCCA	0.552																																						uc001dxg.2																			0					0						c.(994-996)GTT>ATT		proline/serine-rich coiled-coil 1 isoform c							46.0	45.0	46.0					1																	109823399		2203	4300	6503	SO:0001630	splice_region_variant	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109823399C>T		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.994+1G>A	1.37:g.109823399C>T						PSRC1_uc001dxb.2_Missense_Mutation_p.V132I|PSRC1_uc001dxc.2_Missense_Mutation_p.V302I|PSRC1_uc001dxd.2_Missense_Mutation_p.V302I|PSRC1_uc001dxe.2_Missense_Mutation_p.V302I|PSRC1_uc001dxf.2_Missense_Mutation_p.G268D|PSRC1_uc001dxh.2_Missense_Mutation_p.V302I|PSRC1_uc001dxi.2_Missense_Mutation_p.V302I|PSRC1_uc001dxj.2_Missense_Mutation_p.V332I	p.V332I	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	5	1116	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	332			Pro/Ser-rich.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.994G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.32|12.32	1.904091|1.904091	0.33628|0.33628	.|.	.|.	ENSG00000134222|ENSG00000134222	ENST00000369904|ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903	.|T;T;T;T;T	.|0.50277	.|0.77;0.77;0.75;0.77;0.77	4.6|4.6	0.621|0.621	0.17643|0.17643	.|.	.|0.565405	.|0.15793	.|N	.|0.244362	T|T	0.09379|0.09379	0.0231|0.0231	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B;B	0.10296|0.11235	0.003|0.003;0.003;0.004	B|B;B;B	0.12156|0.09377	0.007|0.004;0.002;0.004	T|T	0.31223|0.31223	-0.9951|-0.9951	6|8	.|.	.|.	.|.	9.865|9.865	3.6559|3.6559	0.08221|0.08221	0.1721:0.5496:0.0:0.2783|0.1721:0.5496:0.0:0.2783	.|.	268|332;302;302	Q6PGN9-3|Q6PGN9;Q6PGN9-2;A8K0M8	.|PSRC1_HUMAN;.;.	D|I	268|302;302;332;302;302	.|ENSP00000386323:V302I;ENSP00000358923:V302I;ENSP00000413591:V332I;ENSP00000358925:V302I;ENSP00000358919:V302I	.|.	G|V	-|-	2|1	0|0	PSRC1|PSRC1	109624922|109624922	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.064000|0.064000	0.16182|0.16182	-0.282000|-0.282000	0.08445|0.08445	0.128000|0.128000	0.18479|0.18479	0.655000|0.655000	0.94253|0.94253	GGT|GTT		0.552	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636	Missense_Mutation
SYT6	148281	broad.mit.edu	37	1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	rs138691067		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:114682285C>T	ENST00000610222.1	-	2	610	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_ENST00000393296.1_Missense_Mutation_p.R155H|SYT6_ENST00000609117.1_Missense_Mutation_p.R70H|SYT6_ENST00000369547.1_Missense_Mutation_p.R70H|SYT6_ENST00000607941.1_Missense_Mutation_p.R70H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CCGGGTGTGACGCATGATGTG	0.622																																						uc001eev.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(208-210)CGT>CAT		synaptotagmin VI		C	HIS/ARG	0,4406		0,0,2203	101.0	80.0	87.0		209	5.5	1.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT6	NM_205848.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	70/426	114682285	1,13005	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114682285C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.464G>A	1.37:g.114682285C>T	ENSP00000476396:p.Arg155His						p.R70H	NM_205848	NP_995320	Q5T7P8	SYT6_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)	2	459	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	155			Cytoplasmic (Potential).		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.209G>A		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101911	0.56183	0.0	1.16E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;1.47;0.9	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.31207	0.915	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.17349	-1.0372	10	0.17832	T	0.49	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	155	Q5T7P8	SYT6_HUMAN	H	70;155;70;155;70;70	ENSP00000358560:R70H;ENSP00000376974:R155H;ENSP00000358559:R70H;ENSP00000358558:R155H;ENSP00000412443:R70H;ENSP00000389266:R70H	ENSP00000358558:R155H	R	-	2	0	SYT6	114483808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.071000	0.57556	2.583000	0.87209	0.655000	0.94253	CGT		0.622	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848	
FLG	2312	broad.mit.edu	37	1	152282266	152282266	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:152282266C>T	ENST00000368799.1	-	3	5131	c.5096G>A	c.(5095-5097)cGc>cAc	p.R1699H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1699	Ser-rich.		R -> C (in dbSNP:rs12405278).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTTGTCTGCGCCCAGTGCC	0.572									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5095-5097)CGC>CAC		filaggrin							253.0	256.0	255.0					1																	152282266		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282266C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5096G>A	1.37:g.152282266C>T	ENSP00000357789:p.Arg1699His						p.R1699H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5132	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1699			Ser-rich.|Filaggrin 10.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5096G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	5.271	0.235356	0.10023	.	.	ENSG00000143631	ENST00000368799	T	0.03951	3.75	2.69	-1.42	0.08913	.	.	.	.	.	T	0.00875	0.0029	N	0.17082	0.46	0.09310	N	1	B	0.24882	0.113	B	0.15484	0.013	T	0.45920	-0.9228	9	0.44086	T	0.13	.	5.9351	0.19161	0.0:0.485:0.0:0.515	.	1699	P20930	FILA_HUMAN	H	1699	ENSP00000357789:R1699H	ENSP00000357789:R1699H	R	-	2	0	FLG	150548890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.335000	0.07873	-0.429000	0.07329	0.306000	0.20318	CGC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
PKLR	5313	broad.mit.edu	37	1	155264433	155264433	+	Missense_Mutation	SNP	C	C	T	rs200695047	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:155264433C>T	ENST00000342741.4	-	6	843	c.805G>A	c.(805-807)Gtc>Atc	p.V269I	PKLR_ENST00000392414.3_Missense_Mutation_p.V238I	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	269					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCTCGGACGTCCTGCTCG	0.672																																						uc001fkb.3																			0				skin(4)|ovary(1)	5						c.(805-807)GTC>ATC		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						47.0	46.0	47.0					1																	155264433		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264433C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.805G>A	1.37:g.155264433C>T	ENSP00000339933:p.Val269Ile					RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.V238I	p.V269I	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	844	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		269					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.805G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	3.541	-0.093745	0.07053	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99329	-5.75;-5.75	4.48	-1.06	0.10002	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	1.234470	0.05244	N	0.512803	D	0.82568	0.5065	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.85733	0.1332	10	0.15499	T	0.54	-2.9389	1.2504	0.01981	0.4067:0.2792:0.1416:0.1725	.	269;260	P30613;B1AVT1	KPYR_HUMAN;.	I	294;238;269;183	ENSP00000376214:V238I;ENSP00000339933:V269I	ENSP00000271946:V183I	V	-	1	0	PKLR	153531057	0.000000	0.05858	0.001000	0.08648	0.344000	0.29017	-0.307000	0.08167	-0.277000	0.09193	-0.470000	0.05040	GTC		0.672	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298	
KCNH1	3756	broad.mit.edu	37	1	210977475	210977475	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:210977475G>A	ENST00000271751.4	-	8	1523	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M	KCNH1_ENST00000367007.4_Missense_Mutation_p.T472M			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	499					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)			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)		GAAAATAGTCGTCACATTCCC	0.478																																						uc001hib.2																			0				ovary(4)|central_nervous_system(1)	5						c.(1495-1497)ACG>ATG		potassium voltage-gated channel, subfamily H,							132.0	119.0	123.0					1																	210977475		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.chr1:210977475G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1496C>T	1.37:g.210977475G>A	ENSP00000271751:p.Thr499Met					KCNH1_uc001hic.2_Missense_Mutation_p.T472M	p.T499M	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	8	1666	-			499			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1496C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799537	0.90538	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97688	-4.49;-4.49	5.6	5.6	0.85130	.	0.043712	0.85682	D	0.000000	D	0.98991	0.9656	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.99612	1.0981	10	0.87932	D	0	.	19.6055	0.95580	0.0:0.0:1.0:0.0	.	472;499	Q14CL3;O95259	.;KCNH1_HUMAN	M	499;472	ENSP00000271751:T499M;ENSP00000355974:T472M	ENSP00000271751:T499M	T	-	2	0	KCNH1	209044098	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.489000	0.97949	2.645000	0.89757	0.511000	0.50034	ACG		0.478	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
FAM107B	83641	broad.mit.edu	37	10	14816316	14816316	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:14816316G>A	ENST00000181796.2	-	1	580	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCACAGTCCGCCCCATCATC	0.572																																						uc001ina.1																			0				breast(4)	4						c.(346-348)GCG>GTG		hypothetical protein LOC83641							111.0	101.0	105.0					10																	14816316		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14816316G>A	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.347C>T	10.37:g.14816316G>A	ENSP00000181796:p.Ala116Val					FAM107B_uc010qbu.1_RNA	p.A116V	NM_031453	NP_113641	Q9H098	F107B_HUMAN			1	581	-			Error:Variant_position_missing_in_Q9H098_after_alignment					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	c.347C>T	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	8.248	0.808369	0.16467	.	.	ENSG00000065809	ENST00000181796	T	0.48836	0.8	4.77	-0.374	0.12512	.	1.289930	0.05866	N	0.623879	T	0.29190	0.0726	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21381	-1.0247	10	0.44086	T	0.13	-2.641	5.6529	0.17627	0.3948:0.1427:0.4626:0.0	.	116	Q9H098-2	.	V	116	ENSP00000181796:A116V	ENSP00000181796:A116V	A	-	2	0	FAM107B	14856322	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.304000	0.08199	-0.254000	0.09500	-0.211000	0.12701	GCG		0.572	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453	
AGAP5	729092	broad.mit.edu	37	10	75434500	75434500	+	Missense_Mutation	SNP	C	C	T	rs200625197		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:75434500C>T	ENST00000374094.4	-	8	1958	c.1918G>A	c.(1918-1920)Gca>Aca	p.A640T	RP11-464F9.1_ENST00000399449.3_RNA|RP11-464F9.21_ENST00000607450.1_RNA|AGAP5_ENST00000443782.2_Missense_Mutation_p.A617T	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	640					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						AGGAGCTGTGCCAGGACCACA	0.667																																						uc009xri.2																			0					0						c.(1918-1920)GCA>ACA		ArfGAP with GTPase domain, ankyrin repeat and PH							21.0	17.0	18.0					10																	75434500		692	1580	2272	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75434500C>T		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.1918G>A	10.37:g.75434500C>T	ENSP00000363207:p.Ala640Thr					AGAP5_uc001juu.3_Missense_Mutation_p.A601T	p.A640T	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN			8	1959	-			640			ANK 1.		A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.1918G>A	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	c	1.667	-0.509980	0.04231	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	T;T	0.66460	-0.21;-0.21	.	.	.	Ankyrin repeat-containing domain (4);	0.557036	0.19599	N	0.110423	T	0.40498	0.1119	N	0.25992	0.78	0.26466	N	0.975352	P	0.34587	0.458	B	0.32342	0.144	T	0.41197	-0.9522	9	0.02654	T	1	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	640	A6NIR3	AGAP5_HUMAN	T	640;617	ENSP00000363207:A640T;ENSP00000402792:A617T	ENSP00000363207:A640T	A	-	1	0	AGAP5	75104506	0.004000	0.15560	0.020000	0.16555	0.020000	0.10135	0.509000	0.22707	0.107000	0.17824	0.109000	0.15622	GCA		0.667	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585	
C10orf12	26148	broad.mit.edu	37	10	98741767	98741767	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:98741767G>A	ENST00000286067.2	+	1	727	c.620G>A	c.(619-621)cGt>cAt	p.R207H		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	207										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAACTGTTCGTACACTGGCC	0.433																																						uc001kmv.2																			0				skin(2)	2						c.(619-621)CGT>CAT		hypothetical protein LOC26148							92.0	92.0	92.0					10																	98741767		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741767G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.620G>A	10.37:g.98741767G>A	ENSP00000286067:p.Arg207His					C10orf12_uc009xvg.1_Missense_Mutation_p.R517H	p.R207H	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	727	+		Colorectal(252;0.172)	207					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.620G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568231	0.86439	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.20598	2.06	6.05	6.05	0.98169	.	0.379178	0.23358	N	0.049052	T	0.36110	0.0955	N	0.24115	0.695	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.09422	-1.0675	10	0.87932	D	0	-7.2776	18.7892	0.91966	0.0:0.0:1.0:0.0	.	41;207	A0PJI9;Q8N655	.;CJ012_HUMAN	H	207;41	ENSP00000286067:R207H	ENSP00000286067:R207H	R	+	2	0	C10orf12	98731757	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.337000	0.90036	2.880000	0.98712	0.655000	0.94253	CGT		0.433	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
FANK1	92565	broad.mit.edu	37	10	127677132	127677132	+	Silent	SNP	G	G	A	rs146192515		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:127677132G>A	ENST00000368693.1	+	3	308	c.204G>A	c.(202-204)acG>acA	p.T68T	FANK1_ENST00000368695.1_Silent_p.T62T|FANK1_ENST00000368689.1_Silent_p.T62T|FANK1_ENST00000449042.2_Silent_p.T62T			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	68	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T68T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATATGCAACGAAGCATGTTG	0.512																																						uc001ljh.3																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(202-204)ACG>ACA		fibronectin type III and ankyrin repeat domains		G		0,4406		0,0,2203	254.0	232.0	239.0		204	-10.1	0.0	10	dbSNP_134	239	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FANK1	NM_145235.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		68/346	127677132	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92565					cytoplasm|nucleus		g.chr10:127677132G>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.204G>A	10.37:g.127677132G>A						FANK1_uc010quk.1_Silent_p.T62T|FANK1_uc009yan.2_Silent_p.T68T|FANK1_uc001lji.2_Silent_p.T62T	p.T68T	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			3	308	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	68			Fibronectin type-III.		Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	c.204G>A	CCDS31309.1																																																																																				0.512	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	
INS	3630	broad.mit.edu	37	11	2181082	2181082	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:2181082C>T	ENST00000397262.1	-	2	565	c.333G>A	c.(331-333)taG>taA	p.*111*	INS_ENST00000381330.4_Silent_p.*111*|INS_ENST00000512523.1_Silent_p.*99*|INS_ENST00000250971.3_Silent_p.*111*|INS-IGF2_ENST00000481781.1_5'Flank|INS-IGF2_ENST00000397270.1_Intron	NM_001185098.1	NP_001172027.1	P01308	INS_HUMAN	insulin	0					activation of protein kinase B activity (GO:0032148)|acute-phase response (GO:0006953)|alpha-beta T cell activation (GO:0046631)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of fatty acid metabolic process (GO:0045922)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of glycogen catabolic process (GO:0045818)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of protein secretion (GO:0050709)|negative regulation of proteolysis (GO:0045861)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|negative regulation of vasodilation (GO:0045908)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|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 activity (GO:0051000)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of respiratory burst (GO:0060267)|positive regulation of vasodilation (GO:0045909)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of insulin secretion (GO:0050796)|regulation of protein localization (GO:0032880)|regulation of protein secretion (GO:0050708)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transmembrane transporter activity (GO:0022898)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	endoplasmic reticulum lumen (GO:0005788)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)|identical protein binding (GO:0042802)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protease binding (GO:0002020)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)		CGGGCTGCGTCTAGTTGCAGT	0.612																																						uc001lvn.1																			0					0						c.(331-333)TAG>TAA		proinsulin precursor							66.0	59.0	61.0					11																	2181082		2193	4292	6485	SO:0001819	synonymous_variant	3630				activation of protein kinase B activity|acute-phase response|alpha-beta T cell activation|endocrine pancreas development|energy reserve metabolic process|fatty acid homeostasis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|glucose metabolic process|glucose transport|insulin receptor signaling pathway|MAPKKK cascade|negative regulation of acute inflammatory response|negative regulation of apoptosis|negative regulation of fatty acid metabolic process|negative regulation of feeding behavior|negative regulation of gluconeogenesis|negative regulation of glycogen catabolic process|negative regulation of lipid catabolic process|negative regulation of NAD(P)H oxidase activity|negative regulation of protein catabolic process|negative regulation of protein secretion|negative regulation of proteolysis|negative regulation of respiratory burst involved in inflammatory response|negative regulation of vasodilation|positive regulation of cell differentiation|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine secretion|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin receptor signaling pathway|positive regulation of lipid biosynthetic process|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of respiratory burst|positive regulation of vasodilation|regulation of cellular amino acid metabolic process|regulation of insulin secretion|regulation of transmembrane transporter activity|wound healing	endoplasmic reticulum lumen|endosome lumen|extracellular space	hormone activity|insulin receptor binding|insulin-like growth factor receptor binding	g.chr11:2181082C>T	X70508	CCDS7729.1	11p15.5	2014-02-03			ENSG00000254647	ENSG00000254647			6081	protein-coding gene	gene with protein product		176730	"""insulin-dependent diabetes mellitus 2"""	IDDM2, IDDM1		6243748, 7773291	Standard	NM_000207		Approved			P01308	OTTHUMG00000009558	ENST00000397262.1:c.333G>A	11.37:g.2181082C>T						INS-IGF2_uc001lvi.2_Intron|INS-IGF2_uc001lvm.2_Intron|INS_uc001lvo.1_Silent_p.*111*|INS_uc009ydg.1_Silent_p.*99*	p.*111*	NM_000207	NP_000198	P01308	INS_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)	3	388	-		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)	111					Q5EEX2	Silent	SNP	ENST00000397262.1	37	c.333G>A	CCDS7729.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466529	0.43839	.	.	ENSG00000254647	ENST00000421783	D	0.98264	-4.83	3.04	3.04	0.35103	.	.	.	.	.	D	0.98403	0.9469	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.99097	1.0842	6	0.87932	D	0	.	13.797	0.63177	0.0:1.0:0.0:0.0	.	.	.	.	N	70	ENSP00000408400:D70N	ENSP00000408400:D70N	D	-	1	0	INS	2137658	0.770000	0.28543	0.892000	0.35008	0.507000	0.33981	1.162000	0.31786	2.007000	0.58848	0.457000	0.33378	GAC		0.612	INS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026395.3	NM_000207	
CSNK2A3	283106	broad.mit.edu	37	11	11374589	11374589	+	Nonsense_Mutation	SNP	G	G	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:11374589G>C	ENST00000528848.2	-	1	315	c.78C>G	c.(76-78)taC>taG	p.Y26*	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	26					positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										CATGTGACTCGTAATCCCAGT	0.473																																						uc001mjp.2																			0					0						c.(76-78)TAC>TAG		casein kinase II alpha 1 subunit isoform a																																				SO:0001587	stop_gained	283106							g.chr11:11374589G>C	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.78C>G	11.37:g.11374589G>C	ENSP00000473553:p.Tyr26*					GALNTL4_uc001mjo.2_Intron	p.Y26*	NM_177559	NP_808227					1	316	-									Nonsense_Mutation	SNP	ENST00000528848.2	37	c.78C>G	CCDS59224.1																																																																																				0.473	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686	
SLC5A12	159963	broad.mit.edu	37	11	26734241	26734241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:26734241G>A	ENST00000396005.3	-	2	661	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SLC5A12_ENST00000280467.6_Nonsense_Mutation_p.R118*	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	118					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTTGAATCGTAGTTGTAAG	0.418																																						uc001mra.2																			0				ovary(1)|skin(1)	2						c.(352-354)CGA>TGA		solute carrier family 5 (sodium/glucose							293.0	252.0	266.0					11																	26734241		2203	4299	6502	SO:0001587	stop_gained	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734241G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.352C>T	11.37:g.26734241G>A	ENSP00000379326:p.Arg118*					SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Nonsense_Mutation_p.R118*	p.R118*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			2	665	-			118			Cytoplasmic (Potential).		Q86UC7	Nonsense_Mutation	SNP	ENST00000396005.3	37	c.352C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	38	7.051641	0.98029	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	.	.	.	5.13	2.86	0.33363	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9722	0.30134	0.0843:0.0:0.5233:0.3924	.	.	.	.	X	118	.	ENSP00000280467:R118X	R	-	1	2	SLC5A12	26690817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.493000	0.45320	1.214000	0.43395	0.655000	0.94253	CGA		0.418	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
LRRC4C	57689	broad.mit.edu	37	11	40135944	40135944	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:40135944G>T	ENST00000278198.2	-	2	3862	c.1899C>A	c.(1897-1899)gaC>gaA	p.D633E	LRRC4C_ENST00000530763.1_Missense_Mutation_p.D633E|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D633E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D633E			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	633					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTGTACATTGTCTTTAGAGT	0.318																																						uc001mxa.1																			0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1897-1899)GAC>GAA		netrin-G1 ligand precursor							99.0	91.0	94.0					11																	40135944		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40135944G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1899C>A	11.37:g.40135944G>T	ENSP00000278198:p.Asp633Glu					LRRC4C_uc001mxc.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D629E	p.D633E	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3863	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	633					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1899C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	0.623	-0.820213	0.02755	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	N	0.16307	0.4	0.52099	D	0.999943	B	0.13594	0.008	B	0.17979	0.02	T	0.10019	-1.0648	10	0.06891	T	0.86	.	19.7224	0.96148	0.0:0.0:1.0:0.0	.	633	Q9HCJ2	LRC4C_HUMAN	E	633	ENSP00000278198:D633E;ENSP00000436976:D633E;ENSP00000437132:D633E;ENSP00000434761:D633E	ENSP00000278198:D633E	D	-	3	2	LRRC4C	40092520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.624000	0.67764	2.906000	0.99361	0.655000	0.94253	GAC		0.318	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
OR5AR1	219493	broad.mit.edu	37	11	56431699	56431699	+	Missense_Mutation	SNP	G	G	A	rs138342920	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56431699G>A	ENST00000302969.2	+	1	562	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E180K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTTCTTCTGCGAAATCCCACC	0.483													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21972	0.001		0.0	False		,,,				2504	0.0					uc010rjm.1																			1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)		0						c.(538-540)GAA>AAA		olfactory receptor, family 5, subfamily AR,							214.0	189.0	197.0					11																	56431699		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431699G>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.538G>A	11.37:g.56431699G>A	ENSP00000302639:p.Glu180Lys						p.E180K	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	538	+			180			Extracellular (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.538G>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058017	0.76074	.	.	ENSG00000172459	ENST00000302969	T	0.00202	8.56	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000151	T	0.00468	0.0015	M	0.74467	2.265	0.29430	N	0.859955	D	0.67145	0.996	P	0.60682	0.878	T	0.49011	-0.8983	10	0.87932	D	0	.	13.8882	0.63721	0.0:0.0:0.8473:0.1526	.	180	Q8NGP9	O5AR1_HUMAN	K	180	ENSP00000302639:E180K	ENSP00000302639:E180K	E	+	1	0	OR5AR1	56188275	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.479000	0.53165	2.554000	0.86153	0.573000	0.79308	GAA		0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730	
OR9G4	283189	broad.mit.edu	37	11	56511283	56511283	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56511283A>T	ENST00000302957.3	-	1	4	c.5T>A	c.(4-6)aTt>aAt	p.I2N		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAAGGGAAAATCATCACTTA	0.383																																						uc010rjo.1																			0				ovary(2)|skin(1)	3						c.(4-6)ATT>AAT		olfactory receptor, family 9, subfamily G,							76.0	74.0	75.0					11																	56511283		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511283A>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.5T>A	11.37:g.56511283A>T	ENSP00000307515:p.Ile2Asn						p.I2N	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	5	-			2			Extracellular (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.5T>A	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519174	0.27211	.	.	ENSG00000172457	ENST00000302957	T	0.00512	6.89	5.14	2.8	0.32819	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.45877	-0.9231	9	0.66056	D	0.02	-0.0596	7.7044	0.28642	0.7504:0.0:0.2496:0.0	.	2	Q8NGQ1	OR9G4_HUMAN	N	2	ENSP00000307515:I2N	ENSP00000307515:I2N	I	-	2	0	OR9G4	56267859	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-0.037000	0.12164	0.911000	0.36747	0.523000	0.50628	ATT		0.383	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284	
OR4D6	219983	broad.mit.edu	37	11	59224665	59224665	+	Missense_Mutation	SNP	G	G	A	rs144983296	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:59224665G>A	ENST00000300127.2	+	1	255	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATCTATCACCGTCCCCAAGTT	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		20744	0.0		0.001	False		,,,				2504	0.001					uc010rku.1																			0				ovary(1)	1						c.(232-234)GTC>ATC		olfactory receptor, family 4, subfamily D,		A	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	138.0	123.0	128.0		232	4.2	0.4	11	dbSNP_134	128	1,8589	1.2+/-3.3	0,1,4294	yes	missense	OR4D6	NM_001004708.1	29	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	benign	78/315	59224665	2,12990	2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224665G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.232G>A	11.37:g.59224665G>A	ENSP00000300127:p.Val78Ile						p.V78I	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	232	+			78			Helical; Name=2; (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.232G>A	CCDS31562.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.26	1.302401	0.23736	2.27E-4	1.16E-4	ENSG00000166884	ENST00000300127	T	0.02787	4.16	6.01	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.428856	0.19776	N	0.106325	T	0.02929	0.0087	L	0.42581	1.335	0.09310	N	1	B	0.27679	0.185	B	0.16722	0.016	T	0.42103	-0.9471	10	0.66056	D	0.02	-15.2143	5.2595	0.15565	0.2215:0.0:0.635:0.1435	.	78	Q8NGJ1	OR4D6_HUMAN	I	78	ENSP00000300127:V78I	ENSP00000300127:V78I	V	+	1	0	OR4D6	58981241	0.000000	0.05858	0.410000	0.26471	0.539000	0.34962	0.272000	0.18644	0.891000	0.36235	-0.119000	0.15052	GTC		0.468	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708	
ARHGEF17	9828	broad.mit.edu	37	11	73073628	73073628	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:73073628G>A	ENST00000263674.3	+	14	5195	c.4845G>A	c.(4843-4845)tcG>tcA	p.S1615S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1615					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTGCAGGCTCGGGCTTGGAGA	0.706																																						uc001otu.2																			0					0						c.(4843-4845)TCG>TCA		Rho guanine nucleotide exchange factor (GEF) 17							14.0	19.0	17.0					11																	73073628		2188	4277	6465	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|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.chr11:73073628G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4845G>A	11.37:g.73073628G>A							p.S1615S	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			14	4866	+			1615					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.4845G>A	CCDS8221.1																																																																																				0.706	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
TENM4	26011	broad.mit.edu	37	11	78383335	78383335	+	Missense_Mutation	SNP	C	C	T	rs567221953	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:78383335C>T	ENST00000278550.7	-	31	5998	c.5536G>A	c.(5536-5538)Gta>Ata	p.V1846I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1846					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GTGCGTGTTACGCGATCAAAG	0.512													C|||	3	0.000599042	0.0	0.0	5008	,	,		23081	0.0		0.0	False		,,,				2504	0.0031					uc001ozl.3																			0				ovary(2)|pancreas(2)	4						c.(5536-5538)GTA>ATA		odz, odd Oz/ten-m homolog 4							92.0	91.0	91.0					11																	78383335		1950	4158	6108	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78383335C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5536G>A	11.37:g.78383335C>T	ENSP00000278550:p.Val1846Ile					ODZ4_uc001ozk.3_Missense_Mutation_p.V71I|ODZ4_uc009yvb.1_Missense_Mutation_p.V430I	p.V1846I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			31	5999	-			1846			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5536G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588723	0.28357	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89617	-2.54;0.95	5.65	5.65	0.86999	.	0.063317	0.64402	D	0.000006	T	0.82226	0.4991	N	0.19112	0.55	0.48571	D	0.999679	B	0.16166	0.016	B	0.06405	0.002	T	0.75130	-0.3426	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1846	Q6N022	TEN4_HUMAN	I	1846;310	ENSP00000278550:V1846I;ENSP00000431711:V310I	.	V	-	1	0	ODZ4	78060983	0.995000	0.38212	0.842000	0.33263	0.069000	0.16628	2.998000	0.49465	2.941000	0.99782	0.655000	0.94253	GTA		0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
PZP	5858	broad.mit.edu	37	12	9346769	9346769	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:9346769G>A	ENST00000261336.2	-	11	1186	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	PZP_ENST00000381997.2_Silent_p.D255D	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	386					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AATAATTGGCGTCATTCACAG	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(1156-1158)GAC>GAT		pregnancy-zone protein precursor							180.0	170.0	173.0					12																	9346769		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9346769G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1158C>T	12.37:g.9346769G>A						PZP_uc009zgl.2_Silent_p.D255D	p.D386D	NM_002864	NP_002855					11	1187	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.1158C>T	CCDS8600.1																																																																																				0.408	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
NR1H4	9971	broad.mit.edu	37	12	100897268	100897268	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:100897268G>A	ENST00000551379.1	+	1	131	c.103G>A	c.(103-105)Gcg>Acg	p.A35T	NR1H4_ENST00000392986.3_Intron|NR1H4_ENST00000546380.1_Intron|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000548884.1_Intron|NR1H4_ENST00000188403.7_Missense_Mutation_p.A35T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	35					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TATGAAGCCCGCGAAAGGTAG	0.463																																						uc001tht.1																			0				ovary(1)|lung(1)|skin(1)	3						c.(103-105)GCG>ACG		nuclear receptor subfamily 1, group H, member 4							35.0	32.0	33.0					12																	100897268		876	1991	2867	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100897268G>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.103G>A	12.37:g.100897268G>A	ENSP00000447149:p.Ala35Thr					NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc010svj.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.A35T	p.A35T	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			1	131	+			35					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.103G>A	CCDS55876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.260|7.260	0.604902|0.604902	0.14002|0.14002	.|.	.|.	ENSG00000012504|ENSG00000012504	ENST00000551379;ENST00000188403|ENST00000551184	D;D|.	0.92647|.	-3.08;-3.03|.	5.75|5.75	2.84|2.84	0.33178|0.33178	.|.	0.299519|.	0.31949|.	N|.	0.006815|.	T|T	0.24967|0.24967	0.0606|0.0606	N|N	0.24115|0.24115	0.695|0.695	0.23693|0.23693	N|N	0.997097|0.997097	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.25751|.	T|.	0.34|.	.|.	7.6065|7.6065	0.28105|0.28105	0.076:0.0:0.6313:0.2927|0.076:0.0:0.6313:0.2927	.|.	35;35|.	Q96RI1;Q96RI1-4|.	NR1H4_HUMAN;.|.	T|H	35|13	ENSP00000447149:A35T;ENSP00000188403:A35T|.	ENSP00000188403:A35T|.	A|R	+|+	1|2	0|0	NR1H4|NR1H4	99421399|99421399	0.014000|0.014000	0.17966|0.17966	0.485000|0.485000	0.27403|0.27403	0.004000|0.004000	0.04260|0.04260	0.474000|0.474000	0.22148|0.22148	0.403000|0.403000	0.25479|0.25479	-0.142000|-0.142000	0.14014|0.14014	GCG|CGC		0.463	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123	
RBM19	9904	broad.mit.edu	37	12	114377904	114377904	+	Missense_Mutation	SNP	G	G	A	rs376588204		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:114377904G>A	ENST00000545145.2	-	15	1877	c.1799C>T	c.(1798-1800)gCg>gTg	p.A600V	RBM19_ENST00000392561.3_Missense_Mutation_p.A600V|RBM19_ENST00000261741.5_Missense_Mutation_p.A600V|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	600	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGCTGGGCCGCCAGGGTGCC	0.627																																						uc009zwi.2																			0				skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(1798-1800)GCG>GTG		RNA binding motif protein 19		G	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	72.0	77.0	75.0		1799,1799,1799	1.5	0.2	12		75	0,8600		0,0,4300	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	600/961,600/961,600/961	114377904	1,13005	2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377904G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1799C>T	12.37:g.114377904G>A	ENSP00000442053:p.Ala600Val					RBM19_uc001tvn.3_Missense_Mutation_p.A600V|RBM19_uc001tvm.2_Missense_Mutation_p.A600V	p.A600V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			15	1943	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		600			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1799C>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320851	0.01320	2.27E-4	0.0	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.08008	3.14;3.14;3.14	4.3	1.45	0.22620	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.531595	0.20007	N	0.101212	T	0.03783	0.0107	N	0.04805	-0.155	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.44937	-0.9295	10	0.22109	T	0.4	-15.3656	9.5271	0.39171	0.235:0.0:0.765:0.0	.	600	Q9Y4C8	RBM19_HUMAN	V	600	ENSP00000442053:A600V;ENSP00000376344:A600V;ENSP00000261741:A600V	ENSP00000261741:A600V	A	-	2	0	RBM19	112862287	0.002000	0.14202	0.224000	0.23877	0.089000	0.18198	1.245000	0.32790	0.013000	0.14918	-1.051000	0.02340	GCG		0.627	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
CKAP2	26586	broad.mit.edu	37	13	53029668	53029668	+	5'UTR	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr13:53029668C>T	ENST00000378037.5	+	0	67				CKAP2_ENST00000490903.1_5'Flank|CKAP2_ENST00000378034.3_5'UTR|CKAP2_ENST00000258607.5_5'UTR	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAAGCGGAGACGCATCCCCCG	0.672																																						uc001vgv.2																			0				ovary(1)|skin(1)	2						c.(-25--21)GACGC>GATGC		cytoskeleton associated protein 2 isoform 2							33.0	36.0	35.0					13																	53029668		2201	4299	6500	SO:0001623	5_prime_UTR_variant	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53029668C>T	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.-24C>T	13.37:g.53029668C>T						CKAP2_uc001vgt.2_Translation_Start_Site|CKAP2_uc001vgu.2_Translation_Start_Site|CKAP2_uc010tha.1_5'Flank		NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	1	174	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)							Translation_Start_Site	SNP	ENST00000378037.5	37	c.-23C>T	CCDS41893.1																																																																																				0.672	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2		
SLC7A8	23428	broad.mit.edu	37	14	23600746	23600746	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:23600746C>T	ENST00000316902.7	-	8	1762	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SLC7A8_ENST00000529705.2_Missense_Mutation_p.R241Q|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R143Q|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000422941.2_Missense_Mutation_p.R122Q	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	346					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTGGCCCTCTCGGGCTCCAGC	0.592																																						uc001wiz.2																			0				ovary(1)	1						c.(1036-1038)CGA>CAA		solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						98.0	80.0	86.0					14																	23600746		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23600746C>T	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1037G>A	14.37:g.23600746C>T	ENSP00000320378:p.Arg346Gln					SLC7A8_uc001wiw.2_5'Flank|SLC7A8_uc001wix.2_Missense_Mutation_p.R143Q|SLC7A8_uc010tnk.1_Missense_Mutation_p.R122Q|SLC7A8_uc010tnl.1_Missense_Mutation_p.R241Q|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Intron	p.R346Q	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	8	1763	-	all_cancers(95;4.6e-05)		346					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.1037G>A	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396809	0.96009	.	.	ENSG00000092068	ENST00000316902;ENST00000453702;ENST00000529705;ENST00000422941;ENST00000206514	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.17	5.17	0.71159	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	M	0.71871	2.18	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.989;0.989;0.994	D	0.94830	0.7995	10	0.54805	T	0.06	.	17.4585	0.87614	0.0:1.0:0.0:0.0	.	241;122;346	B4DKT4;B4DTV6;Q9UHI5	.;.;LAT2_HUMAN	Q	346;143;241;122;143	ENSP00000320378:R346Q;ENSP00000391577:R143Q;ENSP00000434345:R241Q;ENSP00000416398:R122Q	ENSP00000206514:R143Q	R	-	2	0	SLC7A8	22670586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.553000	0.82203	2.407000	0.81776	0.557000	0.71058	CGA		0.592	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3		
SPTB	6710	broad.mit.edu	37	14	65261276	65261276	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:65261276C>T	ENST00000389721.5	-	12	1736	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q	SPTB_ENST00000389722.3_Silent_p.Q568Q|SPTB_ENST00000542895.1_Silent_p.Q568Q|SPTB_ENST00000556626.1_Silent_p.Q568Q|SPTB_ENST00000389720.3_Silent_p.Q568Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	568					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTTGTGCTTCTGTAGCAGGT	0.522																																						uc001xht.2																			0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(1702-1704)CAG>CAA		spectrin beta isoform b							207.0	192.0	197.0					14																	65261276		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65261276C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1704G>A	14.37:g.65261276C>T						SPTB_uc001xhr.2_Silent_p.Q568Q|SPTB_uc001xhs.2_Silent_p.Q568Q|SPTB_uc001xhu.2_Silent_p.Q568Q	p.Q568Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	12	1758	-		all_lung(585;4.15e-09)	568			Spectrin 3.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.1704G>A	CCDS32100.1																																																																																				0.522	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
EXD2	55218	broad.mit.edu	37	14	69702870	69702870	+	Splice_Site	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:69702870G>T	ENST00000409018.3	+	6	1284		c.e6+1		EXD2_ENST00000409675.1_Splice_Site|EXD2_ENST00000492815.1_Splice_Site|EXD2_ENST00000409014.1_Splice_Site|EXD2_ENST00000449989.1_Splice_Site|EXD2_ENST00000409242.1_Splice_Site|EXD2_ENST00000312994.5_Splice_Site|EXD2_ENST00000409949.1_Splice_Site	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2								3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGCATTGGTGGTATGAGATTC	0.478																																						uc001xkt.2																			0					0						c.e8+1		exonuclease 3'-5' domain containing 2							119.0	116.0	117.0					14																	69702870		2203	4300	6503	SO:0001630	splice_region_variant	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69702870G>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1156+1G>T	14.37:g.69702870G>T						EXD2_uc001xku.2_Splice_Site_p.E131_splice|EXD2_uc001xkv.2_Splice_Site_p.E386_splice|EXD2_uc001xkw.2_Splice_Site_p.E261_splice|EXD2_uc010aqt.2_Splice_Site_p.E386_splice|EXD2_uc010tte.1_Splice_Site_p.E386_splice|EXD2_uc001xky.2_Splice_Site_p.E261_splice	p.E261_splice	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			8	1440	+								B4DIH6|G5E947|Q6AWB6|Q8N3D3	Splice_Site	SNP	ENST00000409018.3	37	c.781_splice	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751776	0.69533	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EXD2	68772623	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	7.718000	0.84743	2.894000	0.99253	0.591000	0.81541	.		0.478	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1		Intron
CAPN3	825	broad.mit.edu	37	15	42700426	42700426	+	Silent	SNP	G	G	A	rs28364528		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:42700426G>A	ENST00000397163.3	+	16	2037	c.1818G>A	c.(1816-1818)tcG>tcA	p.S606S	CAPN3_ENST00000569136.1_5'UTR|CAPN3_ENST00000357568.3_Silent_p.S600S|CAPN3_ENST00000397200.4_Silent_p.S94S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Intron|CAPN3_ENST00000397204.4_Intron|CAPN3_ENST00000356316.3_Silent_p.S513S|CAPN3_ENST00000349748.3_Intron|CAPN3_ENST00000318023.7_Silent_p.S600S|CAPN3_ENST00000561817.1_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	606	Linker.		S -> L (in LGMD2A; dbSNP:rs199806879).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCTTCGTTTCGGACAGAGCAA	0.552													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20783	0.0		0.0	False		,,,				2504	0.0					uc001zpn.1																			0				central_nervous_system(1)	1						c.(1816-1818)TCG>TCA		calpain 3 isoform a		A	,,,,,	3,4403	6.2+/-15.9	0,3,2200	81.0	71.0	74.0		1818,1800,,282,,	-2.9	1.0	15	dbSNP_125	74	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,intron	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1,NM_173088.1,NM_173089.1,NM_173090.1	,,,,,	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	,,,,,	606/822,600/816,,94/310,,	42700426	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42700426G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1818G>A	15.37:g.42700426G>A						CAPN3_uc001zpk.1_Silent_p.S373S|CAPN3_uc001zpl.1_Silent_p.S513S|CAPN3_uc010udf.1_Silent_p.S519S|CAPN3_uc010udg.1_Silent_p.S471S|CAPN3_uc001zpo.1_Silent_p.S600S|CAPN3_uc001zpp.1_Intron|CAPN3_uc001zpq.1_Silent_p.S94S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_5'UTR|CAPN3_uc001zps.1_Intron|CAPN3_uc001zpt.1_Intron	p.S606S	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	16	2124	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	606		S -> L (in LGMD2A).	Linker.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.1818G>A	CCDS45245.1																																																																																				0.552	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		
GOLGA6B	55889	broad.mit.edu	37	15	72954655	72954655	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:72954655G>A	ENST00000421285.3	+	11	910	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	304						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACAAGATGAGGCCAAACACCT	0.542																																						uc010uks.1																			0					0						c.(910-912)GCC>ACC		golgi autoantigen, golgin subfamily a, 6B							16.0	17.0	17.0					15																	72954655		1821	3639	5460	SO:0001583	missense	55889							g.chr15:72954655G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.910G>A	15.37:g.72954655G>A	ENSP00000408132:p.Ala304Thr						p.A304T	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			11	951	+			304			Potential.		A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.910G>A	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	8.295	0.818632	0.16607	.	.	ENSG00000215186	ENST00000421285	T	0.23147	1.92	0.69	-0.549	0.11829	.	.	.	.	.	T	0.26011	0.0634	N	0.25332	0.735	0.09310	N	1	D	0.60575	0.988	P	0.62885	0.908	T	0.21042	-1.0257	9	0.20046	T	0.44	.	4.8573	0.13566	0.278:0.0:0.722:0.0	.	304	A6NDN3	GOG6B_HUMAN	T	304	ENSP00000408132:A304T	ENSP00000408132:A304T	A	+	1	0	GOLGA6B	70741709	0.998000	0.40836	0.001000	0.08648	0.120000	0.20174	1.475000	0.35409	-0.179000	0.10654	0.089000	0.15464	GCC		0.542	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652	
ACAN	176	broad.mit.edu	37	15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	rs143697605		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89391161C>T	ENST00000561243.1	+	8	1624	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_ENST00000559004.1_Missense_Mutation_p.R542W|ACAN_ENST00000352105.7_Missense_Mutation_p.R542W|ACAN_ENST00000439576.2_Missense_Mutation_p.R542W|ACAN_ENST00000558207.1_Missense_Mutation_p.R542W			P16112	PGCA_HUMAN	aggrecan	542	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R542W(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGAGCCCCCGGACCCCATG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11533	0.0		0.0	False		,,,				2504	0.0					uc010upo.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(1624-1626)CGG>TGG		aggrecan isoform 2 precursor							72.0	75.0	74.0					15																	89391161		1949	4147	6096	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391161C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1624C>T	15.37:g.89391161C>T	ENSP00000453342:p.Arg542Trp					ACAN_uc002bmx.2_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_RNA	p.R542W	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		9	1998	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		542					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1624C>T	CCDS53970.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.01	2.707015	0.48412	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.13901	2.55;2.55	5.35	3.4	0.38934	.	.	.	.	.	T	0.49541	0.1563	H	0.97103	3.94	0.40088	D	0.976221	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63817	-0.6551	9	0.87932	D	0	-18.098	11.6973	0.51551	0.3215:0.6785:0.0:0.0	.	542;542;542	E7ENV9;E7EX88;Q6PID9	.;.;.	W	542	ENSP00000387356:R542W;ENSP00000341615:R542W	ENSP00000268134:R542W	R	+	1	2	ACAN	87192165	0.202000	0.23423	0.676000	0.29932	0.976000	0.68499	0.725000	0.25970	0.581000	0.29539	0.563000	0.77884	CGG		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
ACAN	176	broad.mit.edu	37	15	89401858	89401858	+	Silent	SNP	A	A	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89401858A>G	ENST00000561243.1	+	11	6042	c.6042A>G	c.(6040-6042)gtA>gtG	p.V2014V	ACAN_ENST00000559004.1_Silent_p.V2014V|ACAN_ENST00000352105.7_Silent_p.V2014V|ACAN_ENST00000439576.2_Silent_p.V2014V			P16112	PGCA_HUMAN	aggrecan	2024	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCACCAATGTAAGTGGAGAAT	0.522																																						uc010upo.1																			0				ovary(2)|central_nervous_system(1)	3						c.(6040-6042)GTA>GTG		aggrecan isoform 2 precursor							42.0	43.0	42.0					15																	89401858		1874	4108	5982	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401858A>G	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6042A>G	15.37:g.89401858A>G						ACAN_uc010upp.1_Silent_p.V2014V|ACAN_uc002bna.2_RNA	p.V2014V	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6416	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2014					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.6042A>G	CCDS53970.1																																																																																				0.522	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
TP53	7157	broad.mit.edu	37	17	7578264	7578268	+	Frame_Shift_Del	DEL	GATAA	GATAA	-	rs370216745		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:7578264_7578268delGATAA	ENST00000269305.4	-	6	770_774	c.581_585delTTATC	c.(580-585)cttatcfs	p.LI194fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.LI194fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.LI194fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.LI194fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.LI194fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.LI194fs	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.L194R(47)|p.I195F(20)|p.I195N(12)|p.I195S(10)|p.L194P(8)|p.0?(8)|p.L194H(8)|p.R196*(7)|p.I195fs*14(6)|p.?(6)|p.I195fs*52(5)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I195M(3)|p.P191fs*53(2)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.L194fs*14(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.L101H(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.L194fs*15(1)|p.I102M(1)|p.I102F(1)|p.I63F(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.I63M(1)|p.I195L(1)|p.L194fs*52(1)|p.H193_I195>AP(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)	CTTCCACTCGGATAAGATGCTGAGG	0.551		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		263	Substitution - Missense(202)|Deletion - Frameshift(14)|Insertion - Frameshift(9)|Whole gene deletion(8)|Substitution - Nonsense(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(6)|Substitution - coding silent(4)|Complex - frameshift(1)	p.I195T(61)|p.L194R(31)|p.L194F(16)|p.I195F(16)|p.I195N(12)|p.L194P(8)|p.R196*(7)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.P191fs*53(2)|p.L194fs*15(2)|p.I195fs*52(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.I195fs*12(1)|p.I195L(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.L194fs*52(1)|p.?(1)|p.I195_G199delIRVEG(1)|p.A189fs*53(1)|p.L194I(1)|p.H193_I195>AP(1)	ovary(51)|breast(39)|lung(34)|large_intestine(30)|haematopoietic_and_lymphoid_tissue(15)|upper_aerodigestive_tract(13)|oesophagus(13)|biliary_tract(12)|skin(12)|urinary_tract(9)|central_nervous_system(8)|stomach(6)|liver(6)|bone(4)|pancreas(4)|endometrium(3)|soft_tissue(2)|eye(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(580-585)CTTATCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	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.chr17:7578264_7578268delGATAA	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.581_585delTTATC	17.37:g.7578264_7578268delGATAA	ENSP00000269305:p.Leu194fs	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_Frame_Shift_Del_p.L194fs|TP53_uc002gih.2_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.1_Frame_Shift_Del_p.L155fs	p.L194fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	775_779	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194_195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.581_585delTTATC	CCDS11118.1																																																																																				0.551	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH2	4620	broad.mit.edu	37	17	10447064	10447064	+	Silent	SNP	G	G	A	rs201018335		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:10447064G>A	ENST00000245503.5	-	8	1089	c.705C>T	c.(703-705)aaC>aaT	p.N235N	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.N235N|MYH2_ENST00000532183.2_Silent_p.N235N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	235	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGTCTTGGCGTTGCCAAAGG	0.478																																						uc010coi.2																			0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(703-705)AAC>AAT		myosin heavy chain IIa							84.0	84.0	84.0					17																	10447064		2203	4297	6500	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10447064G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.705C>T	17.37:g.10447064G>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N235N|MYH2_uc010coj.2_Silent_p.N235N	p.N235N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			8	833	-			235			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.705C>T	CCDS11156.1																																																																																				0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
HOXB3	3213	broad.mit.edu	37	17	46628102	46628102	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:46628102G>A	ENST00000470495.1	-	2	2337	c.890C>T	c.(889-891)gCc>gTc	p.A297V	HOXB3_ENST00000485909.2_Missense_Mutation_p.A165V|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.A224V|HOXB3_ENST00000460160.1_Missense_Mutation_p.A165V|HOXB3_ENST00000490677.1_Missense_Mutation_p.A163V|HOXB3_ENST00000498678.1_Missense_Mutation_p.A297V|HOXB3_ENST00000489475.1_Missense_Mutation_p.A224V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.A297V|HOXB3_ENST00000311626.4_Missense_Mutation_p.A297V			P14651	HXB3_HUMAN	homeobox B3	297					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATTCTGGTGGGCTTTACCGAA	0.672											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002inn.2																			0					0						c.(889-891)GCC>GTC		homeobox B3							62.0	75.0	70.0					17																	46628102		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628102G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.890C>T	17.37:g.46628102G>A	ENSP00000417207:p.Ala297Val		OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_uc010wlm.1_Missense_Mutation_p.A224V|HOXB3_uc010dbf.2_Missense_Mutation_p.A297V|HOXB3_uc010dbg.2_Missense_Mutation_p.A297V|HOXB3_uc002ino.2_Missense_Mutation_p.A297V|HOXB3_uc010wlk.1_Missense_Mutation_p.A165V|HOXB3_uc010wll.1_Missense_Mutation_p.A224V	p.A297V	NM_002146	NP_002137	P14651	HXB3_HUMAN			2	1290	-			297					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.890C>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911086	0.52439	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	3.79	1.66	0.24008	.	0.327754	0.32301	N	0.006300	T	0.76535	0.4001	N	0.14661	0.345	0.80722	D	1	B	0.19817	0.039	B	0.19148	0.024	T	0.70146	-0.4952	10	0.72032	D	0.01	.	13.3139	0.60397	0.0:0.3158:0.6842:0.0	.	297	P14651	HXB3_HUMAN	V	297;224;297;297;163;165;165;224;297	ENSP00000417207:A297V;ENSP00000419676:A224V;ENSP00000308252:A297V;ENSP00000420595:A297V;ENSP00000449977:A163V;ENSP00000418035:A165V;ENSP00000438747:A165V;ENSP00000418729:A224V;ENSP00000418892:A297V	ENSP00000308252:A297V	A	-	2	0	HOXB3	43983101	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.408000	0.59761	0.351000	0.24027	0.455000	0.32223	GCC		0.672	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1		
EPB41L3	23136	broad.mit.edu	37	18	5428401	5428401	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:5428401G>A	ENST00000341928.2	-	9	1316	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	EPB41L3_ENST00000544123.1_Missense_Mutation_p.R326W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R326W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R326W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R326W|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R326R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATTCGCAGCCGGTCGCGATAT	0.418																																						uc002kmt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(976-978)CGG>TGG		erythrocyte membrane protein band 4.1-like 3							140.0	144.0	143.0					18																	5428401		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428401G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.976C>T	18.37:g.5428401G>A	ENSP00000343158:p.Arg326Trp					EPB41L3_uc010wzh.1_Missense_Mutation_p.R326W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R326W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R217W|EPB41L3_uc010dks.1_Missense_Mutation_p.R348W	p.R326W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			9	1062	-			326			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.976C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916452	0.73098	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;T;D;D;D	0.87412	-2.25;-1.41;-2.25;-2.25;-2.25	5.31	3.28	0.37604	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.048246	0.85682	D	0.000000	D	0.92485	0.7614	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.993;0.968;0.975;0.942;0.987	D	0.93109	0.6515	10	0.87932	D	0	.	12.9628	0.58468	0.0:0.0:0.5501:0.4498	.	326;326;217;326;326	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	W	326;217;326;217;326;326	ENSP00000343158:R326W;ENSP00000442091:R217W;ENSP00000441174:R326W;ENSP00000341138:R326W;ENSP00000382981:R326W	ENSP00000343158:R326W	R	-	1	2	EPB41L3	5418401	1.000000	0.71417	0.944000	0.38274	0.983000	0.72400	2.596000	0.46205	1.190000	0.43042	0.655000	0.94253	CGG		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
DSG3	1830	broad.mit.edu	37	18	29038467	29038467	+	Silent	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:29038467C>A	ENST00000257189.4	+	4	359	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGTGGGAATCGATCAGCCGC	0.438																																						uc002kws.2																			0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(274-276)ATC>ATA		desmoglein 3 preproprotein							103.0	102.0	103.0					18																	29038467		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29038467C>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.276C>A	18.37:g.29038467C>A							p.I92I	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	385	+			92			Extracellular (Potential).|Cadherin 1.		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.276C>A	CCDS11898.1																																																																																				0.438	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
QTRT1	81890	broad.mit.edu	37	19	10823297	10823297	+	Missense_Mutation	SNP	G	G	A	rs548731555		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr19:10823297G>A	ENST00000250237.5	+	7	864	c.854G>A	c.(853-855)cGg>cAg	p.R285Q		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	285					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TTCCCCACACGGACAGCGGTG	0.632																																						uc002mpr.2																			0				skin(1)	1						c.(853-855)CGG>CAG		queuine tRNA-ribosyltransferase 1							113.0	104.0	107.0					19																	10823297		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823297G>A	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.854G>A	19.37:g.10823297G>A	ENSP00000250237:p.Arg285Gln					DNM2_uc010dxk.2_5'Flank	p.R285Q	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		7	879	+			285					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.854G>A	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934558	0.92458	.	.	ENSG00000213339	ENST00000250237	.	.	.	3.77	3.77	0.43336	.	0.000000	0.64402	U	0.000002	D	0.85427	0.5694	M	0.93507	3.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89690	0.3897	9	0.87932	D	0	-6.3549	14.5061	0.67752	0.0:0.0:1.0:0.0	.	285	Q9BXR0	TGT_HUMAN	Q	285	.	ENSP00000250237:R285Q	R	+	2	0	QTRT1	10684297	1.000000	0.71417	0.915000	0.36163	0.904000	0.53231	8.739000	0.91574	1.938000	0.56188	0.462000	0.41574	CGG		0.632	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209	
HTRA2	27429	broad.mit.edu	37	2	74756731	74756731	+	5'UTR	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:74756731G>A	ENST00000258080.3	+	0	228				AUP1_ENST00000377526.3_Missense_Mutation_p.P9L|HTRA2_ENST00000352222.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GAGCCGCTCCGGCCCCGGCCC	0.711																																						uc010yry.1																			0					0						c.(25-27)CCG>CTG		SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;							10.0	15.0	13.0					2																	74756731		1788	3994	5782	SO:0001623	5_prime_UTR_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74756731G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.-403G>A	2.37:g.74756731G>A						AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Missense_Mutation_p.P9L|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Missense_Mutation_p.R40W|HTRA2_uc002smi.1_5'UTR|HTRA2_uc002smj.1_5'UTR|HTRA2_uc002smk.1_5'UTR|HTRA2_uc002sml.1_5'UTR|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	p.P9L			Q9Y679	AUP1_HUMAN			1	244	-			9			Lumenal (Potential).		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.26C>T	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	9.277	1.047179	0.19827	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.84	5.84	0.93424	.	0.140306	0.49305	D	0.000159	T	0.48786	0.1519	N	0.08118	0	0.80722	D	1	D;B	0.89917	1.0;0.093	D;B	0.87578	0.998;0.007	T	0.40887	-0.9539	9	0.02654	T	1	-13.162	15.6279	0.76878	0.0:0.0:1.0:0.0	.	9;9	B4DW71;Q9Y679-2	.;.	L	9	.	ENSP00000258081:P9L	P	-	2	0	AUP1	74610239	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.855000	0.62925	2.768000	0.95171	0.561000	0.74099	CCG		0.711	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247	
ASTL	431705	broad.mit.edu	37	2	96795617	96795617	+	Missense_Mutation	SNP	G	G	A	rs568621983		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:96795617G>A	ENST00000342380.2	-	8	819	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TTGAGGACCCGGGTGATGTCC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16995	0.001		0.0	False		,,,				2504	0.0					uc010yui.1																			0					0						c.(820-822)CGG>TGG		astacin-like metalloendopeptidase precursor							45.0	51.0	49.0					2																	96795617		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795617G>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.820C>T	2.37:g.96795617G>A	ENSP00000343674:p.Arg274Trp						p.R274W	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			8	820	-			274						Missense_Mutation	SNP	ENST00000342380.2	37	c.820C>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084022	0.55861	.	.	ENSG00000188886	ENST00000342380	T	0.64260	-0.09	4.14	2.08	0.27032	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.44483	D	0.000442	T	0.79082	0.4386	M	0.89534	3.04	0.20196	N	0.999928	D	0.89917	1.0	D	0.79784	0.993	T	0.68202	-0.5471	10	0.87932	D	0	-21.0059	8.4956	0.33125	0.0:0.0:0.5797:0.4202	.	274	Q6HA08	ASTL_HUMAN	W	274	ENSP00000343674:R274W	ENSP00000343674:R274W	R	-	1	2	ASTL	96159344	0.594000	0.26849	0.844000	0.33320	0.975000	0.68041	1.671000	0.37513	0.839000	0.34971	0.555000	0.69702	CGG		0.652	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		
ACMSD	130013	broad.mit.edu	37	2	135621053	135621053	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:135621053G>T	ENST00000356140.5	+	5	474	c.338G>T	c.(337-339)gGt>gTt	p.G113V	ACMSD_ENST00000392928.1_Missense_Mutation_p.G55V|ACMSD_ENST00000283054.4_Missense_Mutation_p.G55V|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	113					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGGTTCGTGGGTCTGGGGACG	0.587																																						uc002ttz.2																			0				skin(1)	1						c.(337-339)GGT>GTT		aminocarboxymuconate semialdehyde decarboxylase							81.0	72.0	75.0					2																	135621053		2203	4300	6503	SO:0001583	missense	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135621053G>T	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.338G>T	2.37:g.135621053G>T	ENSP00000348459:p.Gly113Val					ACMSD_uc002tua.2_Missense_Mutation_p.G55V	p.G113V	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	5	405	+			113					Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	c.338G>T	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092521	0.76756	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.63	4.73	0.59995	.	0.044537	0.85682	D	0.000000	D	0.83454	0.5258	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.86052	0.1526	9	0.56958	D	0.05	-12.428	16.3479	0.83151	0.0:0.1323:0.8677:0.0	.	55;113	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	V	113;55;55	.	ENSP00000283054:G55V	G	+	2	0	ACMSD	135337523	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	7.971000	0.88012	1.335000	0.45486	0.561000	0.74099	GGT		0.587	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1		
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTTCCAAGACGCAGCATGTG	0.468																																						uc002udu.1																			0				large_intestine(1)	1						c.(4072-4074)CGT>CAT		sodium channel, voltage-gated, type VII, alpha							119.0	113.0	115.0					2																	167263066		1981	4154	6135	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167263066C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4073G>A	2.37:g.167263066C>T	ENSP00000386796:p.Arg1358His						p.R1358H	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			25	4200	-			1358			Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.4073G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579051	0.46006	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98455	-4.94	5.35	2.62	0.31277	Ion transport (1);	0.338199	0.28821	N	0.014040	D	0.96059	0.8716	L	0.60957	1.885	0.41471	D	0.988101	B	0.24043	0.096	B	0.19946	0.027	D	0.94235	0.7480	10	0.62326	D	0.03	.	8.9932	0.36037	0.0:0.7529:0.0:0.2471	.	1358	Q01118	SCN7A_HUMAN	H	1358	ENSP00000386796:R1358H	ENSP00000259060:R1358H	R	-	2	0	SCN7A	166971312	0.999000	0.42202	0.992000	0.48379	0.827000	0.46813	3.871000	0.56077	0.958000	0.37956	0.655000	0.94253	CGT		0.468	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
TTN	7273	broad.mit.edu	37	2	179575562	179575562	+	Missense_Mutation	SNP	G	G	A	rs375209383		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:179575562G>A	ENST00000591111.1	-	96	27535	c.27311C>T	c.(27310-27312)aCg>aTg	p.T9104M	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T9421M|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T8177M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13236	Ig-like 74.				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)			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)			TTGTGTGCCCGTGACGTGGCA	0.522																																						uc010zfg.1																			0				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.(24529-24531)ACG>ATG		titin isoform N2-A		G	,,,MET/THR	0,4006		0,0,2003	116.0	111.0	113.0		,,,24530	5.3	0.6	2		113	1,8347		0,1,4173	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,81	0,1,6176	AA,AG,GG		0.012,0.0,0.0081	,,,benign	,,,8177/33424	179575562	1,12353	2003	4174	6177	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575562G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27311C>T	2.37:g.179575562G>A	ENSP00000465570:p.Thr9104Met					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4838M	p.T8177M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	24754	-			9104					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.24530C>T		.	.	.	.	.	.	.	.	.	.	G	9.380	1.072720	0.20147	0.0	1.2E-4	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	6.17	5.3	0.74995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73118	0.3546	M	0.87269	2.87	0.80722	D	1	B	0.26845	0.161	B	0.28139	0.086	T	0.74791	-0.3545	9	0.87932	D	0	.	15.763	0.78101	0.065:0.0:0.935:0.0	.	9104	Q8WZ42	TITIN_HUMAN	M	8177	ENSP00000343764:T8177M	ENSP00000343764:T8177M	T	-	2	0	TTN	179283807	1.000000	0.71417	0.604000	0.28916	0.111000	0.19643	6.556000	0.73932	1.628000	0.50416	-0.150000	0.13652	ACG		0.522	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PLCL1	5334	broad.mit.edu	37	2	198968641	198968641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:198968641G>A	ENST00000428675.1	+	5	3484	c.3086G>A	c.(3085-3087)tGg>tAg	p.W1029*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.W931*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1029					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)			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)	AGCTTTGCTTGGAACATTACA	0.403																																						uc010fsp.2																			0				ovary(1)|skin(1)	2						c.(3085-3087)TGG>TAG		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)						78.0	79.0	78.0					2																	198968641		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.chr2:198968641G>A	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.3086G>A	2.37:g.198968641G>A	ENSP00000402861:p.Trp1029*					PLCL1_uc002uuv.3_Nonsense_Mutation_p.W950*	p.W1029*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			5	3377	+			1029					Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP	ENST00000428675.1	37	c.3086G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	41	8.974837	0.99023	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.572	0.87937	0.0:0.0:1.0:0.0	.	.	.	.	X	1029;931	.	.	W	+	2	0	PLCL1	198676886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.595000	0.90840	2.679000	0.91253	0.650000	0.86243	TGG		0.403	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
ESPNL	339768	broad.mit.edu	37	2	239039147	239039147	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:239039147C>T	ENST00000343063.3	+	9	2055	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	ESPNL_ENST00000409169.1_Missense_Mutation_p.R554C|ESPNL_ENST00000409506.1_Missense_Mutation_p.R230C|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	598										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACATCTCCCGCCTGGTACG	0.692																																						uc002vxq.3																			0				pancreas(1)	1						c.(1792-1794)CGC>TGC		espin-like							9.0	11.0	10.0					2																	239039147		2168	4230	6398	SO:0001583	missense	339768							g.chr2:239039147C>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1792C>T	2.37:g.239039147C>T	ENSP00000339115:p.Arg598Cys					ESPNL_uc010fyw.2_Missense_Mutation_p.R294C	p.R598C	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	1902	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	598					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.1792C>T	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300545	0.40694	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.64085	-0.08;1.03;0.62	3.78	1.82	0.25136	.	0.086755	0.43260	D	0.000598	T	0.66426	0.2788	L	0.51422	1.61	0.34286	D	0.68268	D;D	0.89917	1.0;1.0	D;P	0.65773	0.938;0.869	T	0.71108	-0.4688	10	0.56958	D	0.05	-29.4333	5.5386	0.17026	0.1726:0.4391:0.3882:0.0	.	554;598	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	C	598;554;230	ENSP00000339115:R598C;ENSP00000386577:R554C;ENSP00000386579:R230C	ENSP00000339115:R598C	R	+	1	0	ESPNL	238703886	0.609000	0.26975	0.646000	0.29493	0.489000	0.33432	1.787000	0.38704	0.567000	0.29293	0.205000	0.17691	CGC		0.692	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312	
PLCB4	5332	broad.mit.edu	37	20	9370528	9370528	+	Silent	SNP	T	T	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:9370528T>C	ENST00000378493.1	+	13	1176	c.1161T>C	c.(1159-1161)gaT>gaC	p.D387D	PLCB4_ENST00000414679.2_Silent_p.D387D|PLCB4_ENST00000378473.3_Silent_p.D387D|PLCB4_ENST00000278655.4_Silent_p.D387D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.D387D|PLCB4_ENST00000378501.2_Silent_p.D387D			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	387	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333																																						uc002wnf.2																			0				skin(11)|ovary(3)|pancreas(1)	15						c.(1159-1161)GAT>GAC		phospholipase C beta 4 isoform b							90.0	88.0	89.0					20																	9370528		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9370528T>C		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1161T>C	20.37:g.9370528T>C						PLCB4_uc010gbw.1_Silent_p.D387D|PLCB4_uc010gbx.2_Silent_p.D387D|PLCB4_uc002wne.2_Silent_p.D387D|PLCB4_uc002wnh.2_Silent_p.D234D	p.D387D	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			15	1297	+			387			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.1161T>C	CCDS13105.1																																																																																				0.333	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
WFDC3	140686	broad.mit.edu	37	20	44417585	44417585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:44417585G>A	ENST00000243938.4	-	3	279	c.196C>T	c.(196-198)Cga>Tga	p.R66*	WFDC3_ENST00000372632.2_Nonsense_Mutation_p.R66*|DNTTIP1_ENST00000372622.3_5'Flank|WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	66	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGAATGTCTCGGCAGATCCGA	0.527																																						uc002xpf.1																			0					0						c.(196-198)CGA>TGA		WAP four-disulfide core domain 3 precursor							211.0	194.0	200.0					20																	44417585		2203	4300	6503	SO:0001587	stop_gained	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44417585G>A	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.196C>T	20.37:g.44417585G>A	ENSP00000243938:p.Arg66*					DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_Intron	p.R66*	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN			3	280	-		Myeloproliferative disorder(115;0.0122)	66			WAP 1.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Nonsense_Mutation	SNP	ENST00000243938.4	37	c.196C>T	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126167	0.56721	.	.	ENSG00000124116	ENST00000243938;ENST00000372632	.	.	.	4.11	-0.111	0.13576	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999972	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0389	6.0421	0.19740	0.4915:0.0:0.5085:0.0	.	.	.	.	X	66	.	ENSP00000243938:R66X	R	-	1	2	WFDC3	43850992	0.008000	0.16893	0.113000	0.21522	0.730000	0.41778	-0.236000	0.09003	0.109000	0.17891	-0.126000	0.14955	CGA		0.527	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1		
ZBP1	81030	broad.mit.edu	37	20	56191402	56191402	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:56191402T>G	ENST00000371173.3	-	2	334	c.157A>C	c.(157-159)Aaa>Caa	p.K53Q	ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000541799.1_Missense_Mutation_p.K53Q|ZBP1_ENST00000340462.4_Missense_Mutation_p.K53Q|ZBP1_ENST00000343535.4_Missense_Mutation_p.K53Q|ZBP1_ENST00000538947.1_5'UTR	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	53			K -> R (in dbSNP:rs35895307).		innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AACTCCTTTTTCATTCGGTAG	0.597																																						uc002xyo.2																			0				ovary(2)	2						c.(157-159)AAA>CAA		Z-DNA binding protein 1 isoform a							184.0	171.0	175.0					20																	56191402		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56191402T>G	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.157A>C	20.37:g.56191402T>G	ENSP00000360215:p.Lys53Gln					ZBP1_uc010gjm.2_Missense_Mutation_p.K53Q|ZBP1_uc002xyp.2_Intron|ZBP1_uc010zzn.1_Missense_Mutation_p.K53Q	p.K53Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		2	438	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		53			DRADA 1.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.157A>C	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	T	7.707	0.694355	0.15039	.	.	ENSG00000124256	ENST00000371173;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	3.63	-7.27	0.01461	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (1);	1.992260	0.02383	N	0.078993	T	0.36331	0.0963	L	0.32530	0.975	0.09310	N	1	B;B;B	0.16396	0.013;0.017;0.017	B;B;B	0.21546	0.021;0.035;0.035	T	0.37126	-0.9719	10	0.62326	D	0.03	-1.9511	9.1339	0.36861	0.0:0.1592:0.5399:0.3009	.	53;53;53	F5GYT1;A2RRL9;Q9H171	.;.;ZBP1_HUMAN	Q	53	ENSP00000360215:K53Q;ENSP00000344954:K53Q;ENSP00000340584:K53Q;ENSP00000440552:K53Q	ENSP00000344954:K53Q	K	-	1	0	ZBP1	55624808	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	-0.608000	0.05641	-2.426000	0.00560	-1.788000	0.00630	AAA		0.597	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
RIPK4	54101	broad.mit.edu	37	21	43161460	43161460	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr21:43161460G>A	ENST00000352483.2	-	9	2101	c.2037C>T	c.(2035-2037)aaC>aaT	p.N679N	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.N631N|RIPK4_ENST00000542057.1_Silent_p.N568N|RIPK4_ENST00000544709.1_Silent_p.N568N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	679					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697																																						uc002yzn.1																			0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1891-1893)AAC>AAT		ankyrin repeat domain 3							52.0	55.0	54.0					21																	43161460		2201	4298	6499	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161460G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2037C>T	21.37:g.43161460G>A							p.N631N	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1941	-			631					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1893C>T		.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041658	0.02013	.	.	ENSG00000183421	ENST00000330470	.	.	.	4.75	-1.13	0.09775	.	.	.	.	.	T	0.67571	0.2907	.	.	.	0.48341	D	0.999633	.	.	.	.	.	.	T	0.66791	-0.5834	5	0.62326	D	0.03	-25.4646	11.0454	0.47855	0.2809:0.0:0.7191:0.0	.	.	.	.	C	368	.	ENSP00000330975:R368C	R	-	1	0	RIPK4	42034529	0.262000	0.24073	0.004000	0.12327	0.071000	0.16799	0.600000	0.24104	-0.550000	0.06183	-1.170000	0.01741	CGT		0.697	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639	
MCM5	4174	broad.mit.edu	37	22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A	rs367630495		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:35796511G>A	ENST00000216122.4	+	2	234	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_ENST00000382011.5_Missense_Mutation_p.R27H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	27					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647																																						uc003anu.3																			0				ovary(1)	1						c.(79-81)CGC>CAC		minichromosome maintenance complex component 5							37.0	42.0	40.0					22																	35796511		2203	4299	6502	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35796511G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.80G>A	22.37:g.35796511G>A	ENSP00000216122:p.Arg27His					MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.R27H	p.R27H	NM_006739	NP_006730	P33992	MCM5_HUMAN			2	174	+			27					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.80G>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874705	0.72180	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905	T;T;T	0.31247	4.19;3.84;1.5	5.08	5.08	0.68730	.	0.420814	0.26563	N	0.023669	T	0.14787	0.0357	N	0.03608	-0.345	0.41628	D	0.989009	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.07195	-1.0785	10	0.41790	T	0.15	-21.2565	11.5797	0.50883	0.0832:0.0:0.9168:0.0	.	27;27	B1AHB1;P33992	.;MCM5_HUMAN	H	27	ENSP00000216122:R27H;ENSP00000371441:R27H;ENSP00000393977:R27H	ENSP00000216122:R27H	R	+	2	0	MCM5	34126511	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.291000	0.72719	2.342000	0.79632	0.455000	0.32223	CGC		0.647	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		
APOBEC3H	164668	broad.mit.edu	37	22	39497965	39497965	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:39497965C>T	ENST00000401756.1	+	4	537	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_ENST00000421988.2_Intron|APOBEC3H_ENST00000442487.3_Missense_Mutation_p.P154L|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.P154L	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	154					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537																																						uc011aoh.1																			0				ovary(1)|central_nervous_system(1)	2						c.(460-462)CCG>CTG		apolipoprotein B mRNA editing enzyme, catalytic							77.0	73.0	74.0					22																	39497965		2203	4300	6503	SO:0001583	missense	164668				DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39497965C>T	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.461C>T	22.37:g.39497965C>T	ENSP00000385741:p.Pro154Leu					APOBEC3H_uc011aoi.1_RNA|APOBEC3H_uc003axa.3_RNA	p.P154L	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN			4	527	+	Melanoma(58;0.04)		154					B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	ENST00000401756.1	37	c.461C>T	CCDS54530.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281942	0.23392	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000401756	T;T;T	0.63580	-0.05;-0.05;-0.05	0.502	-1.0	0.10196	.	.	.	.	.	T	0.69788	0.3150	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58025	-0.7709	8	0.40728	T	0.16	.	.	.	.	.	154	B7TQM3	.	L	154	ENSP00000216123:P154L;ENSP00000411754:P154L;ENSP00000385741:P154L	ENSP00000216123:P154L	P	+	2	0	APOBEC3H	37827911	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.075000	0.01374	-0.465000	0.06953	0.313000	0.20887	CCG		0.537	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773	
CENPM	79019	broad.mit.edu	37	22	42342475	42342475	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:42342475A>G	ENST00000215980.5	-	2	170	c.83T>C	c.(82-84)cTg>cCg	p.L28P	CENPM_ENST00000402338.1_5'UTR|CENPM_ENST00000402420.1_5'UTR|CENPM_ENST00000407253.3_Missense_Mutation_p.L28P|CENPM_ENST00000404067.1_5'UTR	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	28					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CAGCTGCTGCAGAAGAGCATC	0.662											OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bbn.2																			0					0						c.(82-84)CTG>CCG		centromere protein M isoform a							35.0	31.0	32.0					22																	42342475		2202	4300	6502	SO:0001583	missense	79019				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus		g.chr22:42342475A>G	BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"""chromosome 22 open reading frame 18"""	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.83T>C	22.37:g.42342475A>G	ENSP00000215980:p.Leu28Pro		OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	908	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|CENPM_uc003bbm.2_5'UTR|CENPM_uc003bbo.2_Missense_Mutation_p.L28P|CENPM_uc003bbp.1_Missense_Mutation_p.L28P	p.L28P	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN			2	151	-			28					A7LM22|B1AHQ9|Q6I9W3	Missense_Mutation	SNP	ENST00000215980.5	37	c.83T>C	CCDS14025.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936283	0.73442	.	.	ENSG00000100162	ENST00000215980;ENST00000407253	.	.	.	5.13	5.13	0.70059	.	0.138416	0.50627	D	0.000116	T	0.70334	0.3212	L	0.60455	1.87	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	0.70828	-0.4766	9	0.46703	T	0.11	-13.6321	11.6358	0.51202	1.0:0.0:0.0:0.0	.	28;28;28	Q9NSP4-2;B1AHQ9;Q9NSP4	.;.;CENPM_HUMAN	P	28	.	ENSP00000215980:L28P	L	-	2	0	CENPM	40672421	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	3.134000	0.50538	2.067000	0.61834	0.533000	0.62120	CTG		0.662	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053	
CSPG5	10675	broad.mit.edu	37	3	47619104	47619104	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:47619104T>C	ENST00000383738.2	-	2	2510	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000264723.4_Missense_Mutation_p.I138V	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	138					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGGGCATGATTGACTGCCCG	0.692																																						uc003crp.3																			0				ovary(1)|central_nervous_system(1)	2						c.(412-414)ATC>GTC		chondroitin sulfate proteoglycan 5 (neuroglycan							35.0	43.0	40.0					3																	47619104		2196	4288	6484	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47619104T>C	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.412A>G	3.37:g.47619104T>C	ENSP00000373244:p.Ile138Val					CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.I138V|CSPG5_uc011bbb.1_5'UTR	p.I138V	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	588	-			138			Extracellular (Potential).		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.412A>G	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.313894	0.00235	.	.	ENSG00000114646	ENST00000383738;ENST00000264723	T;T	0.40756	1.02;1.02	3.76	-6.62	0.01813	Chondroitin sulphate attachment (1);	2.250040	0.02134	N	0.056622	T	0.20414	0.0491	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.20009	-1.0288	10	0.42905	T	0.14	2.2655	5.9442	0.19209	0.1684:0.3381:0.0:0.4936	.	138;138	O95196;O95196-2	CSPG5_HUMAN;.	V	138	ENSP00000373244:I138V;ENSP00000264723:I138V	ENSP00000264723:I138V	I	-	1	0	CSPG5	47594108	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.785000	0.04628	-0.693000	0.05121	-1.711000	0.00714	ATC		0.692	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574	
KBTBD12	166348	broad.mit.edu	37	3	127682174	127682174	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:127682174C>T	ENST00000405109.1	+	5	2102	c.1635C>T	c.(1633-1635)acC>acT	p.T545T	KBTBD12_ENST00000343941.4_Silent_p.T120T|RNA5SP139_ENST00000364340.1_RNA|KBTBD12_ENST00000407609.3_Silent_p.T152T|KBTBD12_ENST00000405256.1_Silent_p.T545T|KBTBD12_ENST00000492025.1_3'UTR			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	545										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CCAATTCCACCAATGCAGGGG	0.532																																						uc010hsr.2																			0				ovary(1)	1						c.(1633-1635)ACC>ACT		kelch domain containing 6							49.0	42.0	44.0					3																	127682174		2203	4300	6503	SO:0001819	synonymous_variant	166348							g.chr3:127682174C>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1635C>T	3.37:g.127682174C>T						KBTBD12_uc003ejy.3_Silent_p.T152T|KBTBD12_uc010hsq.2_RNA|KBTBD12_uc003eka.3_Silent_p.T120T	p.T545T	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN			4	1638	+			545			Kelch 3.		B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.1635C>T	CCDS33848.2																																																																																				0.532	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335	
CNGA1	1259	broad.mit.edu	37	4	47938532	47938532	+	Missense_Mutation	SNP	G	G	T	rs566054486		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:47938532G>T	ENST00000514170.1	-	11	2298	c.1979C>A	c.(1978-1980)aCc>aAc	p.T660N	CNGA1_ENST00000544810.1_Missense_Mutation_p.T660N|CNGA1_ENST00000420489.2_Missense_Mutation_p.T660N|CNGA1_ENST00000358519.4_Missense_Mutation_p.T660N|CNGA1_ENST00000402813.3_Missense_Mutation_p.T729N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	660					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCAACCTTGGTTAATCTTTG	0.463																																						uc003gxt.3																			0				ovary(2)	2						c.(1978-1980)ACC>AAC		cyclic nucleotide gated channel alpha 1 isoform							99.0	95.0	96.0					4																	47938532		1855	4109	5964	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938532G>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1979C>A	4.37:g.47938532G>T	ENSP00000426862:p.Thr660Asn					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.T729N	p.T660N	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	2245	-			660			Cytoplasmic (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1979C>A	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119333	0.37436	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97138	-4.14;-4.26;-4.26;-4.26;-4.26	4.77	4.77	0.60923	.	0.155706	0.56097	D	0.000021	D	0.95130	0.8422	M	0.69248	2.105	0.46241	D	0.998945	B;B	0.32507	0.373;0.373	B;B	0.24269	0.052;0.052	D	0.94541	0.7745	10	0.48119	T	0.1	.	13.9719	0.64245	0.0:0.0:0.8478:0.1521	.	660;660	Q4W5E3;P29973	.;CNGA1_HUMAN	N	729;660;660;660;660	ENSP00000384264:T729N;ENSP00000426862:T660N;ENSP00000443401:T660N;ENSP00000351320:T660N;ENSP00000389881:T660N	ENSP00000351320:T660N	T	-	2	0	CNGA1	47633289	1.000000	0.71417	0.989000	0.46669	0.982000	0.71751	7.546000	0.82137	2.352000	0.79861	0.491000	0.48974	ACC		0.463	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	
CENPE	1062	broad.mit.edu	37	4	104068560	104068560	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:104068560C>A	ENST00000265148.3	-	29	4176	c.4087G>T	c.(4087-4089)Gtt>Ttt	p.V1363F	CENPE_ENST00000380026.3_Missense_Mutation_p.V1338F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1363					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCATGTTTAACTTCAAGGGCT	0.343																																						uc003hxb.1																			0				ovary(5)|breast(4)	9						c.(4087-4089)GTT>TTT		centromere protein E							100.0	98.0	99.0					4																	104068560		2203	4298	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104068560C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4087G>T	4.37:g.104068560C>A	ENSP00000265148:p.Val1363Phe					CENPE_uc003hxc.1_Missense_Mutation_p.V1338F	p.V1363F	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	29	4177	-			1363			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.4087G>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	4.642	0.119275	0.08881	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71461	-0.57;-0.57	5.03	-0.826	0.10805	.	.	.	.	.	T	0.46034	0.1372	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.002	T	0.23655	-1.0182	9	0.30078	T	0.28	.	0.221	0.00168	0.3149:0.2676:0.1813:0.2361	.	1338;1363	Q02224-3;Q02224	.;CENPE_HUMAN	F	1363;1363;1338	ENSP00000265148:V1363F;ENSP00000369365:V1338F	ENSP00000265148:V1363F	V	-	1	0	CENPE	104288009	0.000000	0.05858	0.154000	0.22540	0.239000	0.25481	-1.542000	0.02196	0.145000	0.18977	-0.230000	0.12252	GTT		0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FBXW7	55294	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Nonsense(5)|Unknown(1)	p.R658*(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1972-1974)CGA>TGA		F-box and WD repeat domain containing 7 isoform							167.0	164.0	165.0					4																	153244185		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153244185G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1972C>T	4.37:g.153244185G>A	ENSP00000281708:p.Arg658*					FBXW7_uc011cii.1_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R540*	p.R658*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2121	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	658			WD 7.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1972C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698056	0.88830	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7715	15.907	0.79439	0.0:0.0:0.8635:0.1365	.	.	.	.	X	658;540;578;482	.	ENSP00000263981:R578X	R	-	1	2	FBXW7	153463635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.632000	0.74281	1.377000	0.46286	0.655000	0.94253	CGA		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
NPY5R	4889	broad.mit.edu	37	4	164271738	164271738	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:164271738G>C	ENST00000515560.1	+	4	1835	c.313G>C	c.(313-315)Gat>Cat	p.D105H	NPY5R_ENST00000338566.3_Missense_Mutation_p.D105H|NPY5R_ENST00000506953.1_Missense_Mutation_p.D105H			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	105					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCTTGCTGGATCAGTGGAT	0.393																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2																			0				lung(6)|skin(1)	7						c.(313-315)GAT>CAT		neuropeptide Y receptor Y5							301.0	292.0	295.0					4																	164271738		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271738G>C	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.313G>C	4.37:g.164271738G>C	ENSP00000423917:p.Asp105His						p.D105H	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	495	+	all_hematologic(180;0.166)	Prostate(90;0.109)	105			Extracellular (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.313G>C	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021883	0.75275	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.37584	1.19;1.19;1.19	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.49660	0.1570	M	0.69463	2.115	0.80722	D	1	P	0.43314	0.803	P	0.48189	0.57	T	0.50268	-0.8848	10	0.49607	T	0.09	.	18.9152	0.92503	0.0:0.0:1.0:0.0	.	105	Q15761	NPY5R_HUMAN	H	105	ENSP00000339377:D105H;ENSP00000423917:D105H;ENSP00000423474:D105H	ENSP00000339377:D105H	D	+	1	0	NPY5R	164491188	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.487000	0.97945	2.533000	0.85409	0.591000	0.81541	GAT		0.393	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174	
SLC9A3	6550	broad.mit.edu	37	5	482707	482707	+	Missense_Mutation	SNP	C	C	T	rs375784344		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:482707C>T	ENST00000264938.3	-	7	1321	c.1312G>A	c.(1312-1314)Gtc>Atc	p.V438I	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.V438I|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	438					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGTGCTGACGAACAGGTTC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		14319	0.001		0.0	False		,,,				2504	0.0					uc003jbe.2																			0					0						c.(1312-1314)GTC>ATC		solute carrier family 9 (sodium/hydrogen		C	ILE/VAL	0,4404		0,0,2202	99.0	87.0	91.0		1312	4.1	1.0	5		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A3	NM_004174.2	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	438/835	482707	1,13003	2202	4300	6502	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482707C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1312G>A	5.37:g.482707C>T	ENSP00000264938:p.Val438Ile					SLC9A3_uc011clx.1_Missense_Mutation_p.V438I	p.V438I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		7	1424	-			438			Helical; Name=M/M10; (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1312G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836208	0.32421	0.0	1.16E-4	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.14893	2.47;2.47	4.13	4.13	0.48395	Cation/H+ exchanger (1);	0.350750	0.29486	N	0.012007	T	0.15565	0.0375	N	0.12746	0.255	0.34276	D	0.681526	P;D	0.58268	0.854;0.982	B;P	0.51016	0.403;0.656	T	0.24621	-1.0155	10	0.24483	T	0.36	.	15.9847	0.80142	0.0:1.0:0.0:0.0	.	438;438	E9PF67;P48764	.;SL9A3_HUMAN	I	438	ENSP00000264938:V438I;ENSP00000422983:V438I	ENSP00000264938:V438I	V	-	1	0	SLC9A3	535707	0.990000	0.36364	0.986000	0.45419	0.608000	0.37181	2.734000	0.47368	1.836000	0.53414	0.561000	0.74099	GTC		0.652	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174	
GPR98	84059	broad.mit.edu	37	5	89954051	89954051	+	Missense_Mutation	SNP	A	A	G	rs537211169		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:89954051A>G	ENST00000405460.2	+	21	4804	c.4708A>G	c.(4708-4710)Aat>Gat	p.N1570D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1570	Calx-beta 11. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAAAGTGACAATGCAAATGG	0.343													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19613	0.0		0.0	False		,,,				2504	0.0					uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(4708-4710)AAT>GAT		G protein-coupled receptor 98 precursor							73.0	73.0	73.0					5																	89954051		1813	4085	5898	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89954051A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4708A>G	5.37:g.89954051A>G	ENSP00000384582:p.Asn1570Asp					GPR98_uc003kjt.2_5'UTR	p.N1570D	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4804	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1570			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4708A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159961	0.78226	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.24151	1.87	5.86	5.86	0.93980	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.33710	1.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13415	-1.0510	10	0.40728	T	0.16	.	16.2507	0.82485	1.0:0.0:0.0:0.0	.	1570	Q8WXG9	GPR98_HUMAN	D	1570	ENSP00000384582:N1570D	ENSP00000296619:N1570D	N	+	1	0	GPR98	89989807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.065000	0.76727	2.237000	0.73441	0.528000	0.53228	AAT		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
NUP153	9972	broad.mit.edu	37	6	17616339	17616339	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:17616339G>A	ENST00000262077.2	-	22	4416	c.4417C>T	c.(4417-4419)Cgc>Tgc	p.R1473C	NUP153_ENST00000537253.1_Missense_Mutation_p.R1504C	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1473					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTTCCTGCGTCTAACAGCA	0.388																																						uc003ncd.1																			0				lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(4417-4419)CGC>TGC		nucleoporin 153kDa							155.0	145.0	149.0					6																	17616339		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17616339G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4417C>T	6.37:g.17616339G>A	ENSP00000262077:p.Arg1473Cys					NUP153_uc011dje.1_Missense_Mutation_p.R1504C|NUP153_uc010jpl.1_Missense_Mutation_p.R1431C	p.R1473C	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		22	4617	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1473					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.4417C>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962100	0.74016	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.57907	0.37;0.37	5.66	5.66	0.87406	Retro-transposon transporting, conserved site (1);	0.000000	0.48767	D	0.000161	T	0.67458	0.2895	M	0.64997	1.995	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	0.69503	-0.5128	10	0.87932	D	0	-2.74	19.7427	0.96238	0.0:0.0:1.0:0.0	.	1504;1453;1473	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	C	1473;1453;1504	ENSP00000262077:R1473C;ENSP00000444029:R1504C	ENSP00000262077:R1473C	R	-	1	0	NUP153	17724318	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.780000	0.91799	2.638000	0.89438	0.563000	0.77884	CGC		0.388	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
SUPT3H	8464	broad.mit.edu	37	6	44922308	44922308	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:44922308C>T	ENST00000371459.1	-	8	782	c.617G>A	c.(616-618)tGc>tAc	p.C206Y	SUPT3H_ENST00000371460.1_Missense_Mutation_p.C217Y|SUPT3H_ENST00000306867.5_Missense_Mutation_p.C206Y|SUPT3H_ENST00000371461.2_Missense_Mutation_p.C217Y|SUPT3H_ENST00000371458.1_5'UTR	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	288					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATACTGCTGCAGTCCAACCA	0.348																																						uc003oxo.2																			0				ovary(2)|breast(1)	3						c.(649-651)TGC>TAC		suppressor of Ty 3 homolog isoform 2							152.0	146.0	148.0					6																	44922308		2203	4300	6503	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44922308C>T	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.617G>A	6.37:g.44922308C>T	ENSP00000360514:p.Cys206Tyr					SUPT3H_uc003oxn.1_Missense_Mutation_p.C206Y|SUPT3H_uc011dvv.1_Missense_Mutation_p.C54Y|SUPT3H_uc003oxp.2_Missense_Mutation_p.C206Y|SUPT3H_uc011dvw.1_Missense_Mutation_p.C120Y	p.C217Y	NM_181356	NP_852001	O75486	SUPT3_HUMAN			10	968	-			288					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.650G>A	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326079	0.81580	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.44482	0.92;0.94;0.94;0.92	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.71581	2.175	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.929;0.991	T	0.62732	-0.6792	10	0.66056	D	0.02	.	19.3898	0.94576	0.0:1.0:0.0:0.0	.	217;288	O75486-3;O75486	.;SUPT3_HUMAN	Y	217;206;206;217	ENSP00000360515:C217Y;ENSP00000360514:C206Y;ENSP00000306718:C206Y;ENSP00000360516:C217Y	ENSP00000306718:C206Y	C	-	2	0	SUPT3H	45030286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.654000	0.61469	2.579000	0.87056	0.555000	0.69702	TGC		0.348	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356	
MEP1A	4224	broad.mit.edu	37	6	46761453	46761453	+	Splice_Site	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:46761453G>A	ENST00000230588.4	+	3	154	c.145G>A	c.(145-147)Gct>Act	p.A49T		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	49					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AATCAATTTAGGTGAGTTCAA	0.313																																						uc010jzh.1																			0				pancreas(2)|ovary(1)	3						c.(145-147)GCT>ACT		meprin A alpha precursor							43.0	46.0	45.0					6																	46761453		2203	4295	6498	SO:0001630	splice_region_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46761453G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.145+1G>A	6.37:g.46761453G>A						MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.A77T|MEP1A_uc011dwi.1_5'UTR	p.A49T	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		3	187	+			49					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.145G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544346	0.65198	.	.	ENSG00000112818	ENST00000230588	T	0.24908	1.83	5.47	5.47	0.80525	.	0.365392	0.29451	N	0.012120	T	0.18130	0.0435	L	0.54323	1.7	0.43540	D	0.995839	P;P	0.41041	0.736;0.561	B;B	0.41332	0.354;0.262	T	0.01178	-1.1427	10	0.36615	T	0.2	-3.6452	15.1722	0.72884	0.0:0.0:1.0:0.0	.	77;49	B7ZL91;Q16819	.;MEP1A_HUMAN	T	49	ENSP00000230588:A49T	ENSP00000230588:A49T	A	+	1	0	MEP1A	46869412	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.992000	0.63889	2.724000	0.93272	0.650000	0.86243	GCT		0.313	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	Missense_Mutation
HTR1E	3354	broad.mit.edu	37	6	87725079	87725079	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:87725079G>A	ENST00000305344.5	+	2	730	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	9					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GTACCACAGAGGCCAGCATGG	0.473																																						uc003pli.2																			0				ovary(2)|skin(1)	3						c.(25-27)GAG>GAA		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						117.0	99.0	105.0					6																	87725079		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725079G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.27G>A	6.37:g.87725079G>A							p.E9E	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	730	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	9			Extracellular (By similarity).		E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.27G>A	CCDS5006.1																																																																																				0.473	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
GRM1	2911	broad.mit.edu	37	6	146720758	146720758	+	Silent	SNP	C	C	T	rs148042148		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:146720758C>T	ENST00000282753.1	+	7	2818	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	GRM1_ENST00000392299.2_Silent_p.G861G|GRM1_ENST00000355289.4_Silent_p.G861G|GRM1_ENST00000492807.2_Silent_p.G861G|GRM1_ENST00000507907.1_Silent_p.G861G|GRM1_ENST00000361719.2_Silent_p.G861G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	861					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGCATGTTGGCGATGGCAAGC	0.522																																						uc010khw.1																			0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2581-2583)GGC>GGT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	C	,	1,4405	2.1+/-5.4	0,1,2202	52.0	44.0	47.0		2583,2583	-3.1	1.0	6	dbSNP_134	47	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	GRM1	NM_000838.3,NM_001114329.1	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	861/1195,861/907	146720758	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720758C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2583C>T	6.37:g.146720758C>T						GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G|GRM1_uc011edz.1_Silent_p.G861G|GRM1_uc011eea.1_Silent_p.G861G	p.G861G	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3053	+		Ovarian(120;0.0387)	861			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.2583C>T	CCDS5209.1																																																																																				0.522	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
SYNE1	23345	broad.mit.edu	37	6	152763368	152763368	+	Missense_Mutation	SNP	G	G	A	rs140780725	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:152763368G>A	ENST00000367255.5	-	31	4451	c.3850C>T	c.(3850-3852)Cgg>Tgg	p.R1284W	SYNE1_ENST00000367253.4_Missense_Mutation_p.R1284W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1284W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1291W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1284W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1350W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R1274W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1291W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1284					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)			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)		GCTGAGATCCGCTTTGTCTTT	0.512										HNSCC(10;0.0054)			G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18110	0.0		0.0	False		,,,				2504	0.0					uc010kiw.2																			0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3850-3852)CGG>TGG		spectrin repeat containing, nuclear envelope 1		G	TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	73.0	63.0	66.0		3871,3850	0.4	1.0	6	dbSNP_134	66	0,8600		0,0,4300	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	101,101	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	1291/8750,1284/8798	152763368	4,13002	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.chr6:152763368G>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.3850C>T	6.37:g.152763368G>A	ENSP00000356224:p.Arg1284Trp	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R1291W|SYNE1_uc003qou.3_Missense_Mutation_p.R1284W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1267W|SYNE1_uc003qow.2_Missense_Mutation_p.R579W|SYNE1_uc003qox.1_Missense_Mutation_p.R800W	p.R1284W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4452	-		Ovarian(120;0.0955)	1284			Potential.|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.3850C>T	CCDS5236.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.48	3.834949	0.71373	9.08E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88896	0.53;0.53;0.44;0.53;0.6;-2.28;-2.44;-2.44	5.41	0.377	0.16198	.	0.423433	0.21640	N	0.071360	D	0.84584	0.5504	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D	0.76494	0.993;0.994;0.992;0.999;0.994;0.997	B;P;P;P;P;P	0.62382	0.405;0.634;0.785;0.901;0.634;0.799	T	0.82780	-0.0288	10	0.66056	D	0.02	.	7.2271	0.26022	0.0:0.1399:0.2963:0.5638	.	1267;1284;1274;1284;1284;1291	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	W	1284;1291;1284;1291;1350;1284;1274;1284	ENSP00000356224:R1284W;ENSP00000396024:R1291W;ENSP00000265368:R1284W;ENSP00000390975:R1291W;ENSP00000341887:R1350W;ENSP00000356222:R1284W;ENSP00000356217:R1274W;ENSP00000414510:R1284W	ENSP00000265368:R1284W	R	-	1	2	SYNE1	152805061	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	0.884000	0.28214	0.113000	0.18004	-0.172000	0.13284	CGG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SLC22A2	6582	broad.mit.edu	37	6	160662608	160662608	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:160662608C>T	ENST00000366953.3	-	9	1657	c.1399G>A	c.(1399-1401)Gtc>Atc	p.V467I	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	467					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAGATGTGGACGCCAAGATTC	0.453																																						uc003qtf.2																			0				breast(1)|skin(1)	2						c.(1399-1401)GTC>ATC		solute carrier family 22 member 2							129.0	100.0	110.0					6																	160662608		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160662608C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1399G>A	6.37:g.160662608C>T	ENSP00000355920:p.Val467Ile					SLC22A2_uc003qte.1_Missense_Mutation_p.V467I	p.V467I	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	9	1569	-		Breast(66;0.000776)|Ovarian(120;0.0303)	467			Helical; (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1399G>A	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	c	13.38	2.221108	0.39201	.	.	ENSG00000112499	ENST00000366953	T	0.73363	-0.74	4.57	3.7	0.42460	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.146153	0.44902	N	0.000409	T	0.51635	0.1686	L	0.45422	1.42	0.80722	D	1	B	0.33318	0.408	B	0.35413	0.202	T	0.55244	-0.8171	10	0.38643	T	0.18	.	9.6246	0.39743	0.0:0.8399:0.0:0.1601	.	467	O15244	S22A2_HUMAN	I	467	ENSP00000355920:V467I	ENSP00000355920:V467I	V	-	1	0	SLC22A2	160582598	0.998000	0.40836	0.002000	0.10522	0.704000	0.40688	3.850000	0.55918	1.290000	0.44636	-0.127000	0.14921	GTC		0.453	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	
UNC93A	54346	broad.mit.edu	37	6	167728686	167728686	+	Missense_Mutation	SNP	G	G	A	rs572198078	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:167728686G>A	ENST00000230256.3	+	8	1295	c.1120G>A	c.(1120-1122)Gtt>Att	p.V374I	UNC93A_ENST00000366829.2_Missense_Mutation_p.V332I	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	374						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCTCTACGGCGTTCTGTTTGA	0.567													G|||	3	0.000599042	0.0	0.0	5008	,	,		18609	0.0		0.0	False		,,,				2504	0.0031					uc003qvq.2																			0					0						c.(1120-1122)GTT>ATT		unc-93 homolog A isoform 1							58.0	65.0	63.0					6																	167728686		2202	4300	6502	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167728686G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1120G>A	6.37:g.167728686G>A	ENSP00000230256:p.Val374Ile					UNC93A_uc003qvr.2_Missense_Mutation_p.V332I	p.V374I	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	8	1295	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	374					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.1120G>A	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087751	0.01873	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.19394	2.34;2.15	3.86	1.96	0.26148	Major facilitator superfamily domain, general substrate transporter (1);	0.132682	0.50627	N	0.000110	T	0.04952	0.0133	L	0.38175	1.15	0.30744	N	0.745851	B;B	0.27656	0.184;0.107	B;B	0.18263	0.021;0.021	T	0.35101	-0.9802	10	0.32370	T	0.25	-10.9034	8.1552	0.31165	0.215:0.0:0.785:0.0	.	332;374	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	I	374;332	ENSP00000230256:V374I;ENSP00000355794:V332I	ENSP00000230256:V374I	V	+	1	0	UNC93A	167648676	0.706000	0.27856	0.003000	0.11579	0.054000	0.15201	0.965000	0.29319	0.223000	0.20920	0.462000	0.41574	GTT		0.567	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974	
CALN1	83698	broad.mit.edu	37	7	71488740	71488740	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:71488740C>A	ENST00000329008.5	-	4	575	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	CALN1_ENST00000431984.1_Missense_Mutation_p.D93Y|CALN1_ENST00000412588.1_Missense_Mutation_p.D135Y|CALN1_ENST00000395275.2_Missense_Mutation_p.D135Y|CALN1_ENST00000405452.2_Missense_Mutation_p.D93Y|CALN1_ENST00000395276.2_Missense_Mutation_p.D93Y	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	93	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCATCAAAATCCACCTGGCCA	0.458																																						uc003twa.3																			0				skin(1)	1						c.(277-279)GAT>TAT		calneuron 1 isoform 2							117.0	98.0	104.0					7																	71488740		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71488740C>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.277G>T	7.37:g.71488740C>A	ENSP00000332498:p.Asp93Tyr					CALN1_uc003twb.3_Missense_Mutation_p.D135Y|CALN1_uc003twc.3_Missense_Mutation_p.D93Y	p.D93Y	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			4	804	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	93			2 (Potential).|EF-hand 2.|Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.277G>T	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753640	0.89753	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.87	5.87	0.94306	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89298	0.6675	H	0.96576	3.845	0.80722	D	1	D;D	0.55605	0.972;0.972	D;D	0.64506	0.926;0.926	D	0.91511	0.5227	10	0.59425	D	0.04	-29.5575	18.0718	0.89410	0.0:1.0:0.0:0.0	.	93;93	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	Y	93;135;93;93;135;93;93	ENSP00000332498:D93Y;ENSP00000378690:D135Y;ENSP00000378691:D93Y;ENSP00000410704:D93Y;ENSP00000391882:D135Y;ENSP00000384354:D93Y;ENSP00000411806:D93Y	ENSP00000332498:D93Y	D	-	1	0	CALN1	71126676	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.105000	0.77031	2.941000	0.99782	0.655000	0.94253	GAT		0.458	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
ABCB1	5243	broad.mit.edu	37	7	87148697	87148697	+	Missense_Mutation	SNP	G	G	A	rs200280095		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:87148697G>A	ENST00000265724.3	-	24	3289	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R894W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	958	ABC transmembrane type-1 2. {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)			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)	GCTCCAAACCGGAAACATCCA	0.378																																						uc003uiz.1																			0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2872-2874)CGG>TGG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						95.0	87.0	90.0					7																	87148697		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87148697G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2872C>T	7.37:g.87148697G>A	ENSP00000265724:p.Arg958Trp					ABCB1_uc011khc.1_Missense_Mutation_p.R894W	p.R958W	NM_000927	NP_000918	P08183	MDR1_HUMAN			24	3290	-	Esophageal squamous(14;0.00164)		958			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2872C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892567	0.52121	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.86366	-2.11;-2.11	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.111652	0.64402	D	0.000013	D	0.88962	0.6580	L	0.28556	0.865	0.47737	D	0.9995	B;D	0.89917	0.071;1.0	B;D	0.71184	0.027;0.972	D	0.88159	0.2856	10	0.41790	T	0.15	-10.1447	14.8298	0.70139	0.0:0.0:0.8561:0.1439	.	894;958	B5AK60;P08183	.;MDR1_HUMAN	W	739;958;894	ENSP00000265724:R958W;ENSP00000444095:R894W	ENSP00000265724:R958W	R	-	1	2	ABCB1	86986633	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.971000	0.49248	2.736000	0.93811	0.561000	0.74099	CGG		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
PEX1	5189	broad.mit.edu	37	7	92120719	92120719	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:92120719C>A	ENST00000248633.4	-	21	3400	c.3305G>T	c.(3304-3306)tGt>tTt	p.C1102F	AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.C780F|PEX1_ENST00000428214.1_Missense_Mutation_p.C1045F|AC007566.10_ENST00000441539.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1102					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATCTAAGCCACATTCTCCATC	0.428																																						uc003uly.2																			0				ovary(1)|central_nervous_system(1)	2						c.(3304-3306)TGT>TTT		peroxin1							181.0	180.0	180.0					7																	92120719		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92120719C>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3305G>T	7.37:g.92120719C>A	ENSP00000248633:p.Cys1102Phe					PEX1_uc011khr.1_Missense_Mutation_p.C894F|PEX1_uc010ley.2_Missense_Mutation_p.C1045F|PEX1_uc011khs.1_Missense_Mutation_p.C780F	p.C1102F	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		21	3401	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1102					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.3305G>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629763	0.46944	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94184	-3.31;-3.34;-3.37	4.69	3.81	0.43845	.	0.438819	0.26715	N	0.022862	D	0.85915	0.5808	N	0.22421	0.69	0.80722	D	1	B;B;B	0.26147	0.143;0.047;0.047	B;B;B	0.18561	0.022;0.02;0.02	T	0.81234	-0.1025	10	0.28530	T	0.3	-2.254	10.1307	0.42676	0.0:0.7735:0.1471:0.0795	.	780;894;1102	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	F	780;1102;1045	ENSP00000410438:C780F;ENSP00000248633:C1102F;ENSP00000394413:C1045F	ENSP00000248633:C1102F	C	-	2	0	PEX1	91958655	0.980000	0.34600	1.000000	0.80357	0.993000	0.82548	1.279000	0.33191	1.350000	0.45770	0.485000	0.47835	TGT		0.428	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	
NPTX2	4885	broad.mit.edu	37	7	98254301	98254301	+	Silent	SNP	C	C	T	rs573416055		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:98254301C>T	ENST00000265634.3	+	3	876	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19245	0.0		0.001	False		,,,				2504	0.0					uc003upl.2																			0				central_nervous_system(2)|skin(1)	3						c.(709-711)TAC>TAT		neuronal pentraxin II precursor							222.0	177.0	192.0					7																	98254301		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254301C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.711C>T	7.37:g.98254301C>T							p.Y237Y	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	888	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		237			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.711C>T	CCDS5657.1																																																																																				0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
LMOD2	442721	broad.mit.edu	37	7	123302696	123302696	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:123302696G>A	ENST00000458573.2	+	2	1213	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	352						cytoskeleton (GO:0005856)		p.M352I(1)									CAAGAAATATGGATAAACAGA	0.473																																						uc003vky.2																			1	Substitution - Missense(1)		skin(1)		0						c.(1054-1056)ATG>ATA		leiomodin 2 (cardiac)							119.0	113.0	115.0					7																	123302696		1977	4170	6147	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302696G>A	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1056G>A	7.37:g.123302696G>A	ENSP00000411932:p.Met352Ile						p.M352I	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			2	1213	+			352					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1056G>A	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675226	0.88445	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.91631	-2.88	5.27	5.27	0.74061	.	.	.	.	.	D	0.92642	0.7662	M	0.74647	2.275	0.80722	D	1	D	0.59357	0.985	P	0.47206	0.541	D	0.90651	0.4582	9	0.15499	T	0.54	.	19.2535	0.93935	0.0:0.0:1.0:0.0	.	352	Q6P5Q4	LMOD2_HUMAN	I	352;312;323	ENSP00000411932:M352I	ENSP00000405123:M323I	M	+	3	0	LMOD2	123089932	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.568000	0.73987	2.624000	0.88883	0.491000	0.48974	ATG		0.473	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1		
TRPV5	56302	broad.mit.edu	37	7	142622682	142622682	+	Missense_Mutation	SNP	C	C	T	rs200067461		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:142622682C>T	ENST00000265310.1	-	8	1412	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	TRPV5_ENST00000442623.1_Missense_Mutation_p.R355H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	355					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R355L(1)|p.R355H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTTGCCACCACGAAACTTAAG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20619	0.001		0.0	False		,,,				2504	0.0					uc003wby.1																			2	Substitution - Missense(2)	p.R355L(1)|p.R355H(1)	ovary(1)|central_nervous_system(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1063-1065)CGT>CAT		transient receptor potential cation channel,		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	122.0	106.0	112.0		1064	5.2	0.0	7		112	0,8600		0,0,4300	yes	missense	TRPV5	NM_019841.4	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	355/730	142622682	2,13004	2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142622682C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1064G>A	7.37:g.142622682C>T	ENSP00000265310:p.Arg355His					TRPV5_uc003wbz.2_Missense_Mutation_p.R355H	p.R355H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			8	1328	-	Melanoma(164;0.059)		355			Extracellular (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1064G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761725	0.89932	4.54E-4	0.0	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	D;D;D	0.85339	-1.97;-1.97;-1.97	5.18	5.18	0.71444	.	0.202656	0.43747	D	0.000525	D	0.90703	0.7083	M	0.80982	2.52	0.09310	N	1	D;D	0.69078	0.99;0.997	P;P	0.55455	0.776;0.724	D	0.85055	0.0931	10	0.46703	T	0.11	-18.3936	18.0624	0.89381	0.0:1.0:0.0:0.0	.	355;355	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	H	355;300;355	ENSP00000265310:R355H;ENSP00000406361:R300H;ENSP00000406572:R355H	ENSP00000265310:R355H	R	-	2	0	TRPV5	142332804	0.482000	0.25948	0.012000	0.15200	0.875000	0.50365	2.793000	0.47845	2.575000	0.86900	0.655000	0.94253	CGT		0.517	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
OR2A12	346525	broad.mit.edu	37	7	143792808	143792808	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:143792808C>T	ENST00000408949.2	+	1	668	c.608C>T	c.(607-609)gCg>gTg	p.A203V		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCGGGTTCTGCGTTCATCTTA	0.537																																						uc011kty.1																			0				ovary(2)|central_nervous_system(1)	3						c.(607-609)GCG>GTG		olfactory receptor, family 2, subfamily A,							204.0	198.0	200.0					7																	143792808		2019	4185	6204	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792808C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.608C>T	7.37:g.143792808C>T	ENSP00000386174:p.Ala203Val						p.A203V	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	608	+	Melanoma(164;0.0783)		203			Helical; Name=5; (Potential).		Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.608C>T	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.146130	0.00328	.	.	ENSG00000221858	ENST00000408949	T	0.33865	1.39	4.23	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10294	0.0252	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31943	-0.9925	9	0.02654	T	1	-15.1716	7.7161	0.28704	0.0:0.1038:0.0:0.8962	.	203	Q8NGT7	O2A12_HUMAN	V	203	ENSP00000386174:A203V	ENSP00000386174:A203V	A	+	2	0	OR2A12	143423741	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	-0.075000	0.11431	0.673000	0.31224	-0.431000	0.05894	GCG		0.537	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1		
SSPO	23145	broad.mit.edu	37	7	149502623	149502623	+	RNA	DEL	C	C	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:149502623delC	ENST00000378016.2	+	0	8436							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATTCATCCTGCCCAGGAGATG	0.682																																						uc010lpk.2																			0					0						c.(8434-8436)TGCfs		SCO-spondin precursor							36.0	43.0	41.0					7																	149502623		1900	4102	6002			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149502623delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149502623delC							p.C2812fs	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		58	8436	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2812			TSP type-1 7.		Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37	c.8436delC																																																																																					0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
NOS3	4846	broad.mit.edu	37	7	150703567	150703567	+	Missense_Mutation	SNP	G	G	A	rs145168353		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:150703567G>A	ENST00000297494.3	+	15	2162	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	NOS3_ENST00000461406.1_Missense_Mutation_p.R396Q	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R602Q(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTCCCCTCGGCCGGAACAG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		16625	0.001		0.0	False		,,,				2504	0.0					uc003wif.2																			1	Substitution - Missense(1)	p.R602Q(1)	large_intestine(1)	central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(1804-1806)CGG>CAG		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	81.0	91.0	88.0		1805	4.6	1.0	7	dbSNP_134	88	0,8600		0,0,4300	yes	missense	NOS3	NM_000603.4	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	602/1204	150703567	2,13004	2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150703567G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1805G>A	7.37:g.150703567G>A	ENSP00000297494:p.Arg602Gln					NOS3_uc011kuy.1_Missense_Mutation_p.R396Q	p.R602Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	15	2101	+	all_neural(206;0.219)		602		R -> Q (in a colorectal cancer sample; somatic mutation).	Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1805G>A	CCDS5912.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.59	2.281457	0.40394	4.54E-4	0.0	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.01887	4.74;4.58	4.63	4.63	0.57726	Flavodoxin/nitric oxide synthase (2);	0.114202	0.37761	N	0.001958	T	0.02119	0.0066	N	0.14661	0.345	0.80722	D	1	B;B	0.26041	0.14;0.114	B;B	0.32677	0.15;0.072	T	0.62015	-0.6943	10	0.13853	T	0.58	-10.0753	15.3875	0.74714	0.0:0.0:1.0:0.0	.	396;602	E7ESA7;P29474	.;NOS3_HUMAN	Q	602;396	ENSP00000297494:R602Q;ENSP00000417143:R396Q	ENSP00000297494:R602Q	R	+	2	0	NOS3	150334500	0.996000	0.38824	1.000000	0.80357	0.882000	0.50991	2.903000	0.48711	2.560000	0.86352	0.609000	0.83330	CGG		0.542	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603	
PRSS55	203074	broad.mit.edu	37	8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:10390524C>T	ENST00000328655.3	+	4	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.A236V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483																																						uc003wta.2																			0				ovary(1)	1						c.(706-708)GCC>GTC		hypothetical protein LOC203074 precursor							121.0	104.0	110.0					8																	10390524		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10390524C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.707C>T	8.37:g.10390524C>T	ENSP00000333003:p.Ala236Val					uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	p.A236V	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			4	722	+			236			Extracellular (Potential).|Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.707C>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733040	0.48939	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.94966	-3.57;-3.57	5.42	5.42	0.78866	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34725	N	0.003736	D	0.95007	0.8384	L	0.53617	1.68	0.43863	D	0.996461	D	0.52996	0.957	P	0.54431	0.752	D	0.94760	0.7935	10	0.54805	T	0.06	.	15.0703	0.72030	0.0:1.0:0.0:0.0	.	236	Q6UWB4	PRS55_HUMAN	V	236	ENSP00000333003:A236V;ENSP00000430459:A236V	ENSP00000333003:A236V	A	+	2	0	PRSS55	10427934	0.973000	0.33851	0.966000	0.40874	0.052000	0.14988	2.472000	0.45136	2.694000	0.91930	0.591000	0.81541	GCC		0.483	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
PHYHIP	9796	broad.mit.edu	37	8	22079191	22079191	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:22079191G>A	ENST00000321613.3	-	6	1124	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PHYHIP_ENST00000454243.2_Missense_Mutation_p.A223V	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	223										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GTAGAAGTCCGCAAAGTAGAG	0.657																																						uc003xbk.3																			0					0						c.(667-669)GCG>GTG		phytanoyl-CoA 2-hydroxylase interacting protein							17.0	22.0	21.0					8																	22079191		2022	4164	6186	SO:0001583	missense	9796							g.chr8:22079191G>A	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.668C>T	8.37:g.22079191G>A	ENSP00000320017:p.Ala223Val					PHYHIP_uc003xbj.3_Missense_Mutation_p.A223V	p.A223V	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	6	1362	-			223					D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	c.668C>T	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002564	0.93227	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132;ENST00000523252	T;T	0.37584	1.19;1.19	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.57536	1.79	0.51482	D	0.999925	D	0.63046	0.992	P	0.57720	0.826	T	0.55108	-0.8192	10	0.72032	D	0.01	-31.3231	18.1109	0.89536	0.0:0.0:1.0:0.0	.	223	Q92561	PHYIP_HUMAN	V	223;223;130;175	ENSP00000320017:A223V;ENSP00000415491:A223V	ENSP00000320017:A223V	A	-	2	0	PHYHIP	22135136	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.907000	0.56348	2.580000	0.87095	0.555000	0.69702	GCG		0.657	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759	
SULF1	23213	broad.mit.edu	37	8	70536309	70536309	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70536309G>A	ENST00000260128.4	+	15	2444	c.1727G>A	c.(1726-1728)cGt>cAt	p.R576H	SULF1_ENST00000402687.4_Missense_Mutation_p.R576H|SULF1_ENST00000419716.3_Missense_Mutation_p.R576H|SULF1_ENST00000458141.2_Missense_Mutation_p.R576H|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	576					apoptotic process (GO:0006915)|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 angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTGCTAAGCGTCATGATGAA	0.498																																						uc010lza.1																			0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1726-1728)CGT>CAT		sulfatase 1 precursor							76.0	66.0	70.0					8																	70536309		2203	4300	6503	SO:0001583	missense	23213				apoptosis|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.chr8:70536309G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1727G>A	8.37:g.70536309G>A	ENSP00000260128:p.Arg576His					SULF1_uc003xyd.2_Missense_Mutation_p.R576H|SULF1_uc003xye.2_Missense_Mutation_p.R576H|SULF1_uc003xyf.2_Missense_Mutation_p.R576H|SULF1_uc003xyg.2_Missense_Mutation_p.R576H|SULF1_uc003xyh.1_RNA	p.R576H	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		15	2444	+	Breast(64;0.0654)		576					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1727G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294545	0.95546	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38	5.78	5.78	0.91487	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99601	1.0978	10	0.66056	D	0.02	.	20.0119	0.97458	0.0:0.0:1.0:0.0	.	576	Q8IWU6	SULF1_HUMAN	H	576	ENSP00000403040:R576H;ENSP00000260128:R576H;ENSP00000385704:R576H;ENSP00000390315:R576H	ENSP00000260128:R576H	R	+	2	0	SULF1	70698863	1.000000	0.71417	0.988000	0.46212	0.900000	0.52787	9.429000	0.97481	2.706000	0.92434	0.655000	0.94253	CGT		0.498	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
SLCO5A1	81796	broad.mit.edu	37	8	70744225	70744225	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70744225G>A	ENST00000260126.4	-	2	1390	c.684C>T	c.(682-684)aaC>aaT	p.N228N	SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.N228N|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000530307.1_Silent_p.N228N|RP11-159H10.3_ENST00000501104.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGCCGAGGCGTTCAACTCTT	0.637																																						uc003xyl.2																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(682-684)AAC>AAT		solute carrier organic anion transporter family,							27.0	33.0	31.0					8																	70744225		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744225G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.684C>T	8.37:g.70744225G>A						SLCO5A1_uc010lzb.2_Silent_p.N228N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.N228N|SLCO5A1_uc010lzc.2_Silent_p.N228N	p.N228N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1391	-	Breast(64;0.0654)		228			Extracellular (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.684C>T	CCDS6205.1																																																																																				0.637	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
KIAA1161	57462	broad.mit.edu	37	9	34372688	34372688	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:34372688G>A	ENST00000297625.7	-	2	377	c.152C>T	c.(151-153)gCg>gTg	p.A51V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	85					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AAGTCGCTCCGCCTTGCGTAG	0.662																																						uc003zue.3																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(253-255)GCG>GTG		hypothetical protein LOC57462							23.0	31.0	28.0					9																	34372688		2114	4243	6357	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372688G>A	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.152C>T	9.37:g.34372688G>A	ENSP00000297625:p.Ala51Val						p.A85V	NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	3	421	-			85			Extracellular (Potential).		Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.254C>T		.	.	.	.	.	.	.	.	.	.	G	17.15	3.316565	0.60524	.	.	ENSG00000164976	ENST00000297625;ENST00000379142	D;T	0.92249	-3.0;0.94	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92334	0.5876	10	0.28530	T	0.3	-11.3691	17.9064	0.88919	0.0:0.0:1.0:0.0	.	85	Q6NSJ0	K1161_HUMAN	V	51;48	ENSP00000297625:A51V;ENSP00000368437:A48V	ENSP00000297625:A51V	A	-	2	0	KIAA1161	34362688	1.000000	0.71417	0.970000	0.41538	0.834000	0.47266	9.358000	0.97109	2.656000	0.90262	0.561000	0.74099	GCG		0.662	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807	
FAM214B	80256	broad.mit.edu	37	9	35108015	35108015	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:35108015C>T	ENST00000378561.1	-	2	3312	c.257G>A	c.(256-258)gGg>gAg	p.G86E	FAM214B_ENST00000378557.1_Missense_Mutation_p.G86E|FAM214B_ENST00000603301.1_Missense_Mutation_p.G86E|FAM214B_ENST00000322813.5_Missense_Mutation_p.G86E|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000488109.2_Missense_Mutation_p.G86E|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000605244.1_Missense_Mutation_p.G86E|FAM214B_ENST00000378554.2_Missense_Mutation_p.G86E			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	86						nucleus (GO:0005634)											CTCTCTGGCCCCCAGCCCAGG	0.637																																						uc003zwl.2																			0				ovary(2)	2						c.(256-258)GGG>GAG		hypothetical protein LOC80256							37.0	40.0	39.0					9																	35108015		2203	4300	6503	SO:0001583	missense	80256					nucleus		g.chr9:35108015C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.257G>A	9.37:g.35108015C>T	ENSP00000367823:p.Gly86Glu					KIAA1539_uc003zwm.2_Missense_Mutation_p.G86E|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.G86E|KIAA1539_uc003zwp.1_Missense_Mutation_p.G86E|KIAA1539_uc010mkk.1_Intron	p.G86E	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	582	-	all_epithelial(49;0.217)		86					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.257G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879421	0.51801	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.71	3.77	0.43336	.	0.306309	0.29178	N	0.012911	T	0.43055	0.1230	L	0.50333	1.59	0.28088	N	0.931902	D	0.59767	0.986	P	0.53266	0.722	T	0.21177	-1.0253	9	0.17369	T	0.5	-7.2852	9.211	0.37318	0.0:0.6704:0.2432:0.0863	.	86	Q7L5A3	K1539_HUMAN	E	86	.	ENSP00000319897:G86E	G	-	2	0	KIAA1539	35098015	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.606000	0.46291	2.455000	0.83008	0.555000	0.69702	GGG		0.637	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182	
ZNF462	58499	broad.mit.edu	37	9	109746495	109746495	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:109746495C>T	ENST00000277225.5	+	10	7150	c.6861C>T	c.(6859-6861)tgC>tgT	p.C2287C	ZNF462_ENST00000441147.2_Silent_p.C1193C|ZNF462_ENST00000457913.1_Silent_p.C2347C|ZNF462_ENST00000542028.1_Silent_p.C244C|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2287					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C2287C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTGAAGTTTGCCGGTCCAAAC	0.423																																						uc004bcz.2																			1	Substitution - coding silent(1)		kidney(1)	ovary(5)	5						c.(6859-6861)TGC>TGT		zinc finger protein 462							101.0	97.0	98.0					9																	109746495		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109746495C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6861C>T	9.37:g.109746495C>T						ZNF462_uc010mto.2_Silent_p.C2196C|ZNF462_uc004bda.2_Silent_p.C2195C|ZNF462_uc011lvz.1_Silent_p.C244C|uc004bdc.1_Intron	p.C2287C	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			10	7150	+			2287					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6861C>T	CCDS35096.1																																																																																				0.423	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
USP20	10868	broad.mit.edu	37	9	132625554	132625555	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:132625554_132625555delTC	ENST00000315480.4	+	9	745_746	c.587_588delTC	c.(586-588)gtcfs	p.V196fs	USP20_ENST00000372429.3_Frame_Shift_Del_p.V196fs|USP20_ENST00000358355.1_Frame_Shift_Del_p.V196fs			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	196	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAGAAGCTGGTCTCTGAGGTCT	0.589																																						uc004bys.2																			0				lung(1)|breast(1)	2						c.(586-588)GTCfs		ubiquitin specific protease 20																																				SO:0001589	frameshift_variant	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132625554_132625555delTC	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.587_588delTC	9.37:g.132625556_132625557delTC	ENSP00000313811:p.Val196fs					USP20_uc004byr.2_Frame_Shift_Del_p.V196fs|USP20_uc004byt.1_Frame_Shift_Del_p.V196fs	p.V196fs	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			9	798_799	+		Ovarian(14;0.00556)	196					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Frame_Shift_Del	DEL	ENST00000315480.4	37	c.587_588delTC	CCDS43892.1																																																																																				0.589	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		
PHEX	5251	broad.mit.edu	37	X	22151701	22151701	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:22151701A>T	ENST00000379374.4	+	12	1929	c.1364A>T	c.(1363-1365)gAg>gTg	p.E455V	PHEX_ENST00000535894.1_Missense_Mutation_p.E358V|PHEX_ENST00000418858.3_Missense_Mutation_p.E158V|PHEX_ENST00000537599.1_Missense_Mutation_p.E455V	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	455					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AAAGAAAATGAGTGGATGGAT	0.403																																						uc004dah.2																			0				ovary(2)|lung(1)	3						c.(1363-1365)GAG>GTG		phosphate-regulating neutral endopeptidase							135.0	114.0	121.0					X																	22151701		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22151701A>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1364A>T	X.37:g.22151701A>T	ENSP00000368682:p.Glu455Val					PHEX_uc011mjr.1_Missense_Mutation_p.E455V|PHEX_uc011mjs.1_Missense_Mutation_p.E358V	p.E455V	NM_000444	NP_000435	P78562	PHEX_HUMAN			12	1567	+			455			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1364A>T	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.785049	0.31593	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	5.39	4.21	0.49690	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.306226	0.39615	N	0.001308	T	0.73877	0.3643	L	0.35487	1.065	0.41463	D	0.988057	B;B	0.27416	0.178;0.096	B;B	0.31390	0.079;0.129	T	0.67872	-0.5558	10	0.48119	T	0.1	.	7.3562	0.26721	0.7088:0.1471:0.0:0.1441	.	455;455	F5GXU4;P78562	.;PHEX_HUMAN	V	455;455;358;158	ENSP00000368682:E455V;ENSP00000440362:E455V;ENSP00000439418:E358V;ENSP00000443531:E158V	ENSP00000368682:E455V	E	+	2	0	PHEX	22061622	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	5.216000	0.65246	0.671000	0.31185	-0.396000	0.06452	GAG		0.403	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
GLUD2	2747	broad.mit.edu	37	X	120183085	120183085	+	Missense_Mutation	SNP	G	G	A	rs201021827		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:120183085G>A	ENST00000328078.1	+	1	1624	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	516					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ACAATGGAGCGTTCTGCCAGG	0.468																																						uc004eto.2																			0				pancreas(1)	1						c.(1546-1548)CGT>CAT		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						161.0	122.0	135.0					X																	120183085		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120183085G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1547G>A	X.37:g.120183085G>A	ENSP00000327589:p.Arg516His						p.R516H	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1624	+			516					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1547G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	9.796	1.179131	0.21787	.	.	ENSG00000182890	ENST00000328078	D	0.96459	-4.02	1.46	-2.21	0.06973	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.052594	0.64402	N	0.000001	D	0.92590	0.7646	M	0.71206	2.165	0.54753	D	0.999985	B	0.17667	0.023	B	0.15052	0.012	T	0.80291	-0.1444	10	0.51188	T	0.08	-2.5094	2.7647	0.05317	0.2616:0.0:0.4893:0.2491	.	516	P49448	DHE4_HUMAN	H	516	ENSP00000327589:R516H	ENSP00000327589:R516H	R	+	2	0	GLUD2	120010766	1.000000	0.71417	0.004000	0.12327	0.095000	0.18619	6.619000	0.74219	-0.559000	0.06110	0.182000	0.17080	CGT		0.468	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084	
ENOX2	10495	broad.mit.edu	37	X	129759413	129759413	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:129759413T>G	ENST00000370927.1	-	13	1729	c.1708A>C	c.(1708-1710)Acc>Ccc	p.T570P	ENOX2_ENST00000394363.1_Missense_Mutation_p.T541P|ENOX2_ENST00000338144.3_Missense_Mutation_p.T570P|ENOX2_ENST00000370935.1_Missense_Mutation_p.T541P			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	570					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ACATCGCTGGTGCAGATCTGT	0.463																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2																			0				ovary(1)	1						c.(1708-1710)ACC>CCC		ecto-NOX disulfide-thiol exchanger 2 isoform b							83.0	63.0	70.0					X																	129759413		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759413T>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1708A>C	X.37:g.129759413T>G	ENSP00000359965:p.Thr570Pro					ENOX2_uc004evx.2_Missense_Mutation_p.T541P|ENOX2_uc004evy.2_Missense_Mutation_p.T541P|ENOX2_uc004evv.2_Missense_Mutation_p.T395P	p.T570P	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			16	2126	-			570					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1708A>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	T	7.576	0.667654	0.14710	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.99	4.99	0.66335	.	0.126753	0.53938	D	0.000046	T	0.28400	0.0702	N	0.12502	0.225	0.38153	D	0.93879	B;B	0.14012	0.005;0.009	B;B	0.13407	0.006;0.009	T	0.19192	-1.0313	9	0.02654	T	1	-10.7981	9.9792	0.41802	0.0:0.0:0.0:1.0	.	570;598	Q16206;A4QPE1	ENOX2_HUMAN;.	P	541;570;541;598;570	.	ENSP00000337146:T570P	T	-	1	0	ENOX2	129587094	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.066000	0.41452	1.959000	0.56917	0.441000	0.28932	ACC		0.463	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314	
SLITRK2	84631	broad.mit.edu	37	X	144903994	144903997	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:144903994_144903997delACAG	ENST00000370490.1	+	1	4306_4309	c.51_54delACAG	c.(49-54)ttacagfs	p.LQ17fs	SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.LQ17fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.LQ17fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.LQ17fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.LQ17fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	17					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.Q18Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGATCTTACAGACAGAGAGTC	0.471																																						uc004fcd.2																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(49-54)TTACAGfs		SLIT and NTRK-like family, member 2 precursor																																				SO:0001589	frameshift_variant	84631					integral to membrane		g.chrX:144903994_144903997delACAG	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.51_54delACAG	X.37:g.144903998_144904001delACAG	ENSP00000359521:p.Leu17fs					SLITRK2_uc010nsp.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nso.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwq.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwr.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mws.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fcg.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwt.1_Frame_Shift_Del_p.L17fs	p.L17fs	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1041_1044	+	Acute lymphoblastic leukemia(192;6.56e-05)		17_18					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	ENST00000370490.1	37	c.51_54delACAG	CCDS14680.1																																																																																				0.471	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
L1CAM	3897	broad.mit.edu	37	X	153137805	153137805	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:153137805G>A	ENST00000370060.1	-	5	391	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	L1CAM_ENST00000370057.3_Missense_Mutation_p.R68C|L1CAM_ENST00000543994.1_Missense_Mutation_p.R70C|L1CAM_ENST00000370055.1_Missense_Mutation_p.R63C|L1CAM_ENST00000361981.3_Missense_Mutation_p.R63C|L1CAM_ENST00000361699.4_Missense_Mutation_p.R68C|L1CAM_ENST00000538883.1_Missense_Mutation_p.R70C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	68	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGTCCAGCGGAACCTGTGG	0.637																																						uc004fjb.2																			0				ovary(8)|central_nervous_system(1)	9						c.(202-204)CGC>TGC		L1 cell adhesion molecule isoform 1 precursor							61.0	53.0	56.0					X																	153137805		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137805G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.202C>T	X.37:g.153137805G>A	ENSP00000359077:p.Arg68Cys					L1CAM_uc004fjc.2_Missense_Mutation_p.R68C|L1CAM_uc010nuo.2_Missense_Mutation_p.R63C|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Missense_Mutation_p.R63C	p.R68C	NM_000425	NP_000416	P32004	L1CAM_HUMAN			4	310	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		68			Extracellular (Potential).|Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.202C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941696	0.73557	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.87	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.206520	0.33691	N	0.004654	T	0.42787	0.1218	M	0.90759	3.145	0.51233	D	0.999918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.992	T	0.49835	-0.8897	10	0.87932	D	0	.	11.1311	0.48347	0.0:0.0:0.8156:0.1844	.	63;68;68	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	C	68;70;68;70;63;63;68;68;63;63;68	ENSP00000359077:R68C;ENSP00000438430:R70C;ENSP00000359074:R68C;ENSP00000439645:R70C;ENSP00000354712:R63C;ENSP00000359072:R63C;ENSP00000355380:R68C;ENSP00000402407:R68C;ENSP00000384902:R63C;ENSP00000392524:R63C;ENSP00000396079:R68C	ENSP00000355380:R68C	R	-	1	0	L1CAM	152790999	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.316000	0.43761	2.259000	0.74868	0.529000	0.55759	CGC		0.637	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
