#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
ATAD3B	83858	broad.mit.edu	37	1	1423280	1423280	+	Missense_Mutation	SNP	C	C	T	rs199705339		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:1423280C>T	ENST00000308647.7	+	12	1368	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	418						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)	p.R418W(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGCCTTCCTTCGGAAGCGAGC	0.627													N|||	1	0.000199681	0.0	0.0	5008	,	,		14315	0.0		0.0	False		,,,				2504	0.001					uc001afv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1252-1254)CGG>TGG		AAA-ATPase  TOB3							80.0	82.0	81.0					1																	1423280		2203	4299	6502	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1423280C>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1252C>T	1.37:g.1423280C>T	ENSP00000311766:p.Arg418Trp					ATAD3B_uc001afx.2_Missense_Mutation_p.R372W|ATAD3B_uc001afy.2_5'Flank	p.R418W	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	12	1353	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	418					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.1252C>T	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	9.501	1.103291	0.20632	.	.	ENSG00000160072	ENST00000308647	D	0.93659	-3.26	2.5	-0.189	0.13260	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.049703	0.85682	D	0.000000	D	0.95915	0.8670	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.979;0.997	D	0.92865	0.6309	10	0.87932	D	0	.	4.8384	0.13476	0.6205:0.1948:0.0:0.1847	.	372;418	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	W	418	ENSP00000311766:R418W	ENSP00000311766:R418W	R	+	1	2	ATAD3B	1413143	0.111000	0.22076	0.718000	0.30602	0.001000	0.01503	0.202000	0.17295	-0.178000	0.10672	-1.021000	0.02439	CGG		0.627	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2		NM_031921		13	68	0	0	0	0.09319	0	13	68		
NADK	65220	broad.mit.edu	37	1	1684482	1684482	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:1684482G>A	ENST00000341426.5	-	12	1423	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	NADK_ENST00000341991.3_Missense_Mutation_p.S401L|NADK_ENST00000344463.4_Missense_Mutation_p.S546L|NADK_ENST00000378625.1_Missense_Mutation_p.S546L|NADK_ENST00000342348.5_Missense_Mutation_p.S369L	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	401					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.S401L(1)|p.S369L(1)		NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CGGGTAGCATGAGGTAGTGAT	0.642																																						uc009vkw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1201-1203)TCA>TTA		NAD kinase							43.0	29.0	34.0					1																	1684482		2200	4299	6499	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1684482G>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1202C>T	1.37:g.1684482G>A	ENSP00000341679:p.Ser401Leu					NADK_uc001aic.2_Missense_Mutation_p.S401L|NADK_uc001aid.3_Missense_Mutation_p.S401L|NADK_uc001aie.2_Missense_Mutation_p.S546L|NADK_uc010nyv.1_Missense_Mutation_p.S369L	p.S401L	NM_023018	NP_075394	O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	12	1323	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	401					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.1202C>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264735	0.95399	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.08	5.08	0.68730	ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	H	0.96996	3.92	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.79784	0.988;0.988;0.993	D	0.87018	0.2127	10	0.87932	D	0	-23.5743	17.0122	0.86409	0.0:0.0:1.0:0.0	.	369;546;401	F5GXR5;Q5QPS4;O95544	.;.;NADK_HUMAN	L	401;401;546;546;369	ENSP00000341679:S401L;ENSP00000344340:S401L;ENSP00000367890:S546L;ENSP00000340925:S546L;ENSP00000339727:S369L	ENSP00000341679:S401L	S	-	2	0	NADK	1674342	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	9.022000	0.93678	2.359000	0.80004	0.561000	0.74099	TCA		0.642	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1		NM_023018		3	19	0	0	0	0.021553	0	3	19		
ARID1A	8289	broad.mit.edu	37	1	27059204	27059204	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:27059204C>T	ENST00000324856.7	+	4	2212	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	ARID1A_ENST00000457599.2_Missense_Mutation_p.S614L|ARID1A_ENST00000374152.2_Missense_Mutation_p.S231L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	614					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S614L(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGCATCCTCAGCCCCCTCA	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		urinary_tract(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1840-1842)TCA>TTA		AT rich interactive domain 1A isoform a							139.0	125.0	130.0					1																	27059204		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059204C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1841C>T	1.37:g.27059204C>T	ENSP00000320485:p.Ser614Leu					ARID1A_uc001bmt.1_Missense_Mutation_p.S614L|ARID1A_uc001bmu.1_Missense_Mutation_p.S614L|ARID1A_uc001bmw.1_Missense_Mutation_p.S231L	p.S614L	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2214	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	614					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1841C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441516	0.83993	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03689	4.11;3.84;3.87	5.7	5.7	0.88788	.	0.128735	0.53938	D	0.000048	T	0.05868	0.0153	L	0.29908	0.895	0.80722	D	1	P;P;P	0.48294	0.851;0.908;0.851	B;B;B	0.43916	0.253;0.436;0.253	T	0.40213	-0.9575	10	0.49607	T	0.09	-8.1571	19.8172	0.96573	0.0:1.0:0.0:0.0	.	614;614;268	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	L	614;614;231	ENSP00000320485:S614L;ENSP00000387636:S614L;ENSP00000363267:S231L	ENSP00000320485:S614L	S	+	2	0	ARID1A	26931791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.905000	0.75714	2.702000	0.92279	0.491000	0.48974	TCA		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		7	169	0	0	0	0.038147	0	7	169		
ARID1A	8289	broad.mit.edu	37	1	27059260	27059260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:27059260C>T	ENST00000324856.7	+	4	2268	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q633*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q250*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	633					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q633*(2)|p.S634fs*12(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTGAGCCTTCAGTCAAGACC	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		3	Substitution - Nonsense(2)|Deletion - Frameshift(1)		urinary_tract(2)|liver(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1897-1899)CAG>TAG		AT rich interactive domain 1A isoform a							128.0	120.0	123.0					1																	27059260		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059260C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1897C>T	1.37:g.27059260C>T	ENSP00000320485:p.Gln633*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q633*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q633*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q250*	p.Q633*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2270	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	633					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1897C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	39	7.755239	0.98471	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-6.1762	19.8172	0.96573	0.0:1.0:0.0:0.0	.	.	.	.	X	633;633;250	.	ENSP00000320485:Q633X	Q	+	1	0	ARID1A	26931847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.905000	0.75714	2.702000	0.92279	0.491000	0.48974	CAG		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		14	170	0	0	0	0.132662	0	14	170		
RLF	6018	broad.mit.edu	37	1	40661404	40661404	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:40661404T>G	ENST00000372771.4	+	4	602	c.575T>G	c.(574-576)aTt>aGt	p.I192S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	192					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.I192S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTTCTTAAAATTCTGTCTCAA	0.368																																						uc001cfc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(574-576)ATT>AGT		rearranged L-myc fusion							73.0	76.0	75.0					1																	40661404		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40661404T>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.575T>G	1.37:g.40661404T>G	ENSP00000361857:p.Ile192Ser						p.I192S	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		4	606	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	192					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.575T>G	CCDS448.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204049	0.79127	.	.	ENSG00000117000	ENST00000372771	T	0.26223	1.75	5.1	5.1	0.69264	.	0.103993	0.64402	D	0.000004	T	0.44201	0.1282	M	0.65975	2.015	0.45272	D	0.998272	D	0.61080	0.989	P	0.56788	0.806	T	0.46428	-0.9192	10	0.87932	D	0	-12.2218	14.8735	0.70478	0.0:0.0:0.0:1.0	.	192	Q13129	RLF_HUMAN	S	192	ENSP00000361857:I192S	ENSP00000361857:I192S	I	+	2	0	RLF	40433991	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.809000	0.69172	1.919000	0.55581	0.377000	0.23210	ATT		0.368	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1		NM_012421		5	47	0	0	0	0.02938	0	5	47		
ECHDC2	55268	broad.mit.edu	37	1	53370432	53370432	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:53370432C>G	ENST00000371522.4	-	7	681	c.588G>C	c.(586-588)ctG>ctC	p.L196L	ECHDC2_ENST00000358358.5_Silent_p.L165L|ECHDC2_ENST00000536120.1_Silent_p.L150L	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	196					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)	p.L165L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CAGTTCCACTCAGTCGTCGGC	0.677																																						uc001cup.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(586-588)CTG>CTC		enoyl Coenzyme A hydratase domain containing 2							58.0	52.0	54.0					1																	53370432		2203	4300	6503	SO:0001819	synonymous_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53370432C>G	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.588G>C	1.37:g.53370432C>G						ECHDC2_uc001cun.2_Silent_p.L119L|ECHDC2_uc001cuo.3_Silent_p.L165L|ECHDC2_uc010onk.1_Silent_p.L150L	p.L196L	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN			7	834	-			196					D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	37	c.588G>C	CCDS55600.1																																																																																				0.677	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3		NM_018281		12	64	0	0	0	0.105934	0	12	64		
CD58	965	broad.mit.edu	37	1	117078842	117078842	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:117078842G>C	ENST00000369489.5	-	3	439	c.373C>G	c.(373-375)Cca>Gca	p.P125A	CD58_ENST00000369487.3_Missense_Mutation_p.P125A|CD58_ENST00000457047.2_Missense_Mutation_p.P125A	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	125					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.P125A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTGGGAGATGGAAGAGACTCT	0.358																																						uc001egm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(373-375)CCA>GCA		CD58 molecule isoform 1							61.0	58.0	59.0					1																	117078842		2203	4300	6503	SO:0001583	missense	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078842G>C	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.373C>G	1.37:g.117078842G>C	ENSP00000358501:p.Pro125Ala					CD58_uc001egn.2_RNA|CD58_uc010owy.1_Missense_Mutation_p.P125A|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Missense_Mutation_p.P125A	p.P125A	NM_001779	NP_001770	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	3	494	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	125			Extracellular (Potential).		A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	c.373C>G	CCDS888.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525827	0.27299	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	T;T;T	0.54866	0.61;0.55;0.65	3.06	2.14	0.27477	.	0.431719	0.21862	N	0.068011	T	0.46073	0.1374	L	0.54323	1.7	0.26693	N	0.971316	D;D;D	0.89917	0.987;1.0;0.987	P;D;P	0.72338	0.807;0.977;0.807	T	0.18304	-1.0341	10	0.37606	T	0.19	.	6.0026	0.19529	0.143:0.0:0.857:0.0	.	125;125;125	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	A	125	ENSP00000358501:P125A;ENSP00000409080:P125A;ENSP00000358499:P125A	ENSP00000358499:P125A	P	-	1	0	CD58	116880365	0.183000	0.23186	0.008000	0.14137	0.012000	0.07955	0.842000	0.27627	0.860000	0.35481	0.655000	0.94253	CCA		0.358	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1		NM_001779		5	36	0	0	0	0.014758	0	5	36		
NUDT17	200035	broad.mit.edu	37	1	145588986	145588986	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:145588986C>T	ENST00000334513.5	-	2	273	c.262G>A	c.(262-264)Gat>Aat	p.D88N	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	88							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D88N(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACACCTCGATCTGTGGGCAGC	0.637											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001eoe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(262-264)GAT>AAT		nudix (nucleoside diphosphate linked moiety							21.0	21.0	21.0					1																	145588986		2203	4300	6503	SO:0001583	missense	200035						hydrolase activity|metal ion binding	g.chr1:145588986C>T	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.262G>A	1.37:g.145588986C>T	ENSP00000334437:p.Asp88Asn		OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1695	NBPF10_uc001emp.3_Intron|NUDT17_uc001eof.1_Missense_Mutation_p.D148N	p.D88N	NM_001012758	NP_001012776	P0C025	NUD17_HUMAN			2	270	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		88						Missense_Mutation	SNP	ENST00000334513.5	37	c.262G>A	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	C	6.698	0.497491	0.12762	.	.	ENSG00000186364	ENST00000334513	.	.	.	4.33	-4.33	0.03677	.	0.883916	0.10013	N	0.726910	T	0.02494	0.0076	N	0.01668	-0.77	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44174	-0.9345	9	0.07175	T	0.84	3.9098	7.8684	0.29552	0.0:0.5434:0.1363:0.3203	.	88;88	B4DNV8;P0C025	.;NUD17_HUMAN	N	88	.	ENSP00000334437:D88N	D	-	1	0	NUDT17	144300343	0.000000	0.05858	0.009000	0.14445	0.620000	0.37586	-0.876000	0.04201	-0.729000	0.04875	0.655000	0.94253	GAT		0.637	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3		XM_496395		3	15	0	0	0	0.115264	0	3	15		
KIF14	9928	broad.mit.edu	37	1	200571154	200571154	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:200571154C>G	ENST00000367350.4	-	11	2460	c.2022G>C	c.(2020-2022)atG>atC	p.M674I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	674	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.M674I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCGTAGCAATCATTGCAGTTT	0.348																																						uc010ppk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(2)|skin(2)	7						c.(2020-2022)ATG>ATC		kinesin family member 14							125.0	115.0	118.0					1																	200571154		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200571154C>G	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2022G>C	1.37:g.200571154C>G	ENSP00000356319:p.Met674Ile					KIF14_uc010ppj.1_Missense_Mutation_p.M183I	p.M674I	NM_014875	NP_055690	Q15058	KIF14_HUMAN			11	2461	-			674					Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.2022G>C	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184277	0.94885	.	.	ENSG00000118193	ENST00000367350	T	0.75154	-0.91	5.89	5.89	0.94794	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	M	0.66506	2.035	0.80722	D	1	D	0.60575	0.988	D	0.65323	0.934	D	0.85685	0.1303	10	0.87932	D	0	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	674	Q15058	KIF14_HUMAN	I	674	ENSP00000356319:M674I	ENSP00000356319:M674I	M	-	3	0	KIF14	198837777	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.476000	0.81055	2.783000	0.95769	0.655000	0.94253	ATG		0.348	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875		15	83	0	0	0	0.160694	0	15	83		
OR2L2	26246	broad.mit.edu	37	1	248202245	248202245	+	Missense_Mutation	SNP	C	C	T	rs201798934		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:248202245C>T	ENST00000366479.2	+	1	772	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R226C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTGTCTACCGCATGCACTC	0.488																																						uc001idw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(676-678)CGC>TGC		olfactory receptor, family 2, subfamily L,							246.0	218.0	227.0					1																	248202245		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202245C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.676C>T	1.37:g.248202245C>T	ENSP00000355435:p.Arg226Cys					OR2L13_uc001ids.2_Intron	p.R226C	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	772	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		226			Cytoplasmic (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.676C>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	6.060	0.379306	0.11466	.	.	ENSG00000203663	ENST00000366479	T	0.00267	8.38	1.9	0.79	0.18613	GPCR, rhodopsin-like superfamily (1);	0.845232	0.09637	U	0.775456	T	0.00271	0.0008	M	0.84585	2.705	0.09310	N	1	B	0.26602	0.154	B	0.27170	0.077	T	0.26643	-1.0097	10	0.56958	D	0.05	.	7.665	0.28426	0.5823:0.4177:0.0:0.0	.	226	Q8NH16	OR2L2_HUMAN	C	226	ENSP00000355435:R226C	ENSP00000355435:R226C	R	+	1	0	OR2L2	246268868	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.941000	0.03925	0.897000	0.36392	0.194000	0.17425	CGC		0.488	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1		NM_001004686		33	191	0	0	0	0.163468	0	33	191		
ITGA8	8516	broad.mit.edu	37	10	15614236	15614236	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:15614236G>A	ENST00000378076.3	-	25	2964	c.2611C>T	c.(2611-2613)Cct>Tct	p.P871S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	871					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.P871S(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTGATATTAGGATTTGGTTGG	0.413																																						uc001ioc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(3)	6						c.(2611-2613)CCT>TCT		integrin, alpha 8 precursor							79.0	81.0	80.0					10																	15614236		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15614236G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2611C>T	10.37:g.15614236G>A	ENSP00000367316:p.Pro871Ser					ITGA8_uc010qcb.1_Missense_Mutation_p.P856S	p.P871S	NM_003638	NP_003629	P53708	ITA8_HUMAN			25	2611	-			871			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2611C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	0.244	-1.011716	0.02095	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.41758	0.99	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.267127	0.42172	D	0.000744	T	0.22322	0.0538	N	0.17278	0.47	0.30966	N	0.723073	B;B	0.14012	0.007;0.009	B;B	0.15052	0.007;0.012	T	0.23190	-1.0195	10	0.07990	T	0.79	.	7.8266	0.29318	0.0803:0.0:0.7571:0.1626	.	856;871	F5H818;P53708	.;ITA8_HUMAN	S	871;856	ENSP00000367316:P871S	ENSP00000367316:P871S	P	-	1	0	ITGA8	15654242	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	1.977000	0.40589	2.734000	0.93682	0.655000	0.94253	CCT		0.413	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1		NM_003638		20	85	0	0	0	0.076483	0	20	85		
OR13A1	79290	broad.mit.edu	37	10	45799078	45799078	+	Missense_Mutation	SNP	C	C	T	rs372706541	byFrequency	TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:45799078C>T	ENST00000553795.1	-	4	1101	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	OR13A1_ENST00000374401.2_Missense_Mutation_p.V265M|OR13A1_ENST00000536058.1_Missense_Mutation_p.V265M	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V265M(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ATGCACACCACGGTGAGGTGG	0.572													C|||	7	0.00139776	0.0	0.0	5008	,	,		20695	0.001		0.0	False		,,,				2504	0.0061					uc001jcc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(793-795)GTG>ATG		olfactory receptor, family 13, subfamily A,							95.0	89.0	91.0					10																	45799078		2203	4300	6503	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799078C>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.793G>A	10.37:g.45799078C>T	ENSP00000451950:p.Val265Met					OR13A1_uc001jcd.1_Missense_Mutation_p.V261M	p.V265M	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	1102	-			265			Helical; Name=6; (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.793G>A	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	c	19.57	3.852232	0.71719	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00277	8.34;8.34;8.34	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	D	0.000921	T	0.00936	0.0031	M	0.89414	3.03	0.36801	D	0.885348	D	0.89917	1.0	D	0.91635	0.999	T	0.64175	-0.6469	10	0.66056	D	0.02	-74.9121	17.5765	0.87950	0.0:1.0:0.0:0.0	.	265	Q8NGR1	O13A1_HUMAN	M	265	ENSP00000451950:V265M;ENSP00000438657:V265M;ENSP00000363522:V265M	ENSP00000311379:V265M	V	-	1	0	OR13A1	45119084	0.699000	0.27786	0.957000	0.39632	0.633000	0.38033	2.281000	0.43452	2.724000	0.93272	0.650000	0.86243	GTG		0.572	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2		NM_001004297		39	96	0	0	0	0.086207	0	39	96		
ARHGAP22	58504	broad.mit.edu	37	10	49667753	49667753	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:49667753G>A	ENST00000249601.4	-	5	929	c.633C>T	c.(631-633)gaC>gaT	p.D211D	ARHGAP22_ENST00000417247.2_Silent_p.D121D|ARHGAP22_ENST00000417912.2_Silent_p.D227D|ARHGAP22_ENST00000374172.1_Silent_p.D102D|ARHGAP22_ENST00000435790.2_Silent_p.D217D|ARHGAP22_ENST00000374170.1_Silent_p.D121D	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	211	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.D211D(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTCCCCACAGTCGAAGGAAT	0.617																																						uc001jgt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(631-633)GAC>GAT		Rho GTPase activating protein 2							184.0	169.0	174.0					10																	49667753		2203	4300	6503	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49667753G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.633C>T	10.37:g.49667753G>A						ARHGAP22_uc001jgs.2_Silent_p.D121D|ARHGAP22_uc001jgu.2_Silent_p.D227D|ARHGAP22_uc010qgl.1_Silent_p.D168D|ARHGAP22_uc010qgm.1_Silent_p.D217D|ARHGAP22_uc001jgv.2_5'UTR	p.D211D	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN			5	930	-			211			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.633C>T	CCDS7227.1																																																																																				0.617	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1		NM_021226		17	171	0	0	0	0.160694	0	17	171		
MGEA5	10724	broad.mit.edu	37	10	103547231	103547231	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr10:103547231A>G	ENST00000361464.3	-	15	2899	c.2504T>C	c.(2503-2505)tTc>tCc	p.F835S	MGEA5_ENST00000357797.5_Missense_Mutation_p.F768S|MGEA5_ENST00000439817.1_Missense_Mutation_p.F782S|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	835					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.F835S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ATTAGCAAGGAAAGTTTCTGG	0.383																																						uc001ktv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2503-2505)TTC>TCC		meningioma expressed antigen 5 (hyaluronidase)							145.0	143.0	144.0					10																	103547231		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103547231A>G	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2504T>C	10.37:g.103547231A>G	ENSP00000354850:p.Phe835Ser					MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.F782S|MGEA5_uc009xws.2_Missense_Mutation_p.F768S	p.F835S	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	15	2947	-		Colorectal(252;0.207)	835			Histone acetyltransferase activity (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.2504T>C	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651563	0.88056	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797	T;T;T	0.31769	1.49;1.5;1.48	5.63	5.63	0.86233	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	L	0.29908	0.895	0.80722	D	1	D;D;P	0.57899	0.967;0.981;0.882	B;P;B	0.50490	0.439;0.642;0.376	T	0.10382	-1.0632	10	0.66056	D	0.02	-13.4522	16.1748	0.81844	1.0:0.0:0.0:0.0	.	782;768;835	E9PGF9;O60502-2;O60502	.;.;NCOAT_HUMAN	S	782;835;768	ENSP00000409973:F782S;ENSP00000354850:F835S;ENSP00000350445:F768S	ENSP00000350445:F768S	F	-	2	0	MGEA5	103537221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.905000	0.92613	2.274000	0.75844	0.529000	0.55759	TTC		0.383	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1		NM_012215		8	101	0	0	0	0.038147	0	8	101		
CCKBR	887	broad.mit.edu	37	11	6291461	6291461	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:6291461G>A	ENST00000334619.2	+	3	740	c.547G>A	c.(547-549)Gga>Aga	p.G183R	CCKBR_ENST00000532715.1_Missense_Mutation_p.G99R|CCKBR_ENST00000525462.1_Missense_Mutation_p.G183R|CCKBR_ENST00000525014.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	183					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.G183R(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGCTGTCCGGACTACTCAT	0.667																																						uc001mcp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(5)|ovary(2)|breast(1)	8						c.(547-549)GGA>AGA		cholecystokinin B receptor	Pentagastrin(DB00183)						56.0	47.0	50.0					11																	6291461		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291461G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.547G>A	11.37:g.6291461G>A	ENSP00000335544:p.Gly183Arg					CCKBR_uc001mcq.2_Missense_Mutation_p.G111R|CCKBR_uc001mcr.2_Missense_Mutation_p.G183R|CCKBR_uc001mcs.2_Missense_Mutation_p.G183R|CCKBR_uc001mct.1_5'Flank	p.G183R	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	740	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	183			Helical; Name=4; (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.547G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614303	0.46631	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.37411	1.2;1.2;1.2	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.327603	0.30235	N	0.010097	T	0.56877	0.2015	M	0.78344	2.41	0.09310	N	1	D;D;D	0.89917	1.0;0.978;0.991	D;P;P	0.65684	0.937;0.63;0.846	T	0.52653	-0.8547	10	0.32370	T	0.25	.	12.6617	0.56817	0.0:0.0:0.8347:0.1653	.	183;117;183	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	R	183;99;183	ENSP00000335544:G183R;ENSP00000432079:G99R;ENSP00000435534:G183R	ENSP00000335544:G183R	G	+	1	0	CCKBR	6248037	0.010000	0.17322	0.793000	0.32043	0.984000	0.73092	0.623000	0.24447	2.505000	0.84491	0.655000	0.94253	GGA		0.667	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2		NM_176875		14	70	0	0	0	0.146539	0	14	70		
USH1C	10083	broad.mit.edu	37	11	17553040	17553040	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:17553040C>T	ENST00000318024.4	-	3	262	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	USH1C_ENST00000005226.7_Missense_Mutation_p.E52K|USH1C_ENST00000527720.1_Missense_Mutation_p.E21K|USH1C_ENST00000527020.1_Missense_Mutation_p.E52K	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	52	N-terminal domain.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.E52K(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CGGCTGGGTTCATTGATGACC	0.617																																						uc001mnf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(154-156)GAA>AAA		harmonin isoform a							54.0	48.0	50.0					11																	17553040		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17553040C>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.154G>A	11.37:g.17553040C>T	ENSP00000317018:p.Glu52Lys					USH1C_uc001mne.2_Missense_Mutation_p.E52K|USH1C_uc009yhb.2_Missense_Mutation_p.E52K|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.E16K	p.E52K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			3	263	-			52					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.154G>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487735	0.96323	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.26660	1.77;1.74;1.98;1.72;2.18	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	N	0.24115	0.695	0.80722	D	1	P;P;D	0.56521	0.943;0.483;0.976	B;B;B	0.40901	0.264;0.069;0.343	T	0.01401	-1.1364	10	0.44086	T	0.13	.	16.722	0.85412	0.0:1.0:0.0:0.0	.	52;52;52	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	K	52;21;52;52;63	ENSP00000317018:E52K;ENSP00000432944:E21K;ENSP00000436934:E52K;ENSP00000005226:E52K;ENSP00000437128:E63K	ENSP00000005226:E52K	E	-	1	0	USH1C	17509616	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.824000	0.75288	2.688000	0.91661	0.561000	0.74099	GAA		0.617	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1		NM_005709		9	46	0	0	0	0.105934	0	9	46		
RAB3IL1	5866	broad.mit.edu	37	11	61675662	61675662	+	Missense_Mutation	SNP	G	G	C	rs374088156		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:61675662G>C	ENST00000394836.2	-	2	285	c.128C>G	c.(127-129)tCt>tGt	p.S43C	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.S90C	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	43					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S43C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CTCCCCTGCAGAGGTCTCCAC	0.711																																						uc001nso.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(127-129)TCT>TGT		RAB3A interacting protein (rabin3)-like 1							7.0	8.0	8.0					11																	61675662		2128	4213	6341	SO:0001583	missense	5866						protein binding	g.chr11:61675662G>C	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.128C>G	11.37:g.61675662G>C	ENSP00000378313:p.Ser43Cys					RAB3IL1_uc001nsp.2_Missense_Mutation_p.S90C	p.S43C	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN			2	286	-			43					Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.128C>G	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	G	8.539	0.872879	0.17322	.	.	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000531922	T;T;T	0.50277	1.36;1.36;0.75	4.97	1.95	0.26073	.	0.716816	0.13358	N	0.393864	T	0.36468	0.0968	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.10450	0.005;0.001	T	0.29212	-1.0019	10	0.54805	T	0.06	-1.9719	8.6952	0.34291	0.0:0.2972:0.4325:0.2703	.	90;43	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	C	43;90;90	ENSP00000378313:S43C;ENSP00000301773:S90C;ENSP00000435444:S90C	ENSP00000301773:S90C	S	-	2	0	RAB3IL1	61432238	0.001000	0.12720	0.000000	0.03702	0.580000	0.36256	0.941000	0.29005	0.198000	0.20407	-0.305000	0.09177	TCT		0.711	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1		NM_013401		3	11	0	0	0	0.115264	0	3	11		
MAP4K2	5871	broad.mit.edu	37	11	64557669	64557669	+	Missense_Mutation	SNP	C	C	G	rs148398112	byFrequency	TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:64557669C>G	ENST00000294066.2	-	29	2330	c.2239G>C	c.(2239-2241)Gag>Cag	p.E747Q	MAP4K2_ENST00000377350.3_Missense_Mutation_p.E739Q	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	747	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E747Q(2)		cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCCACAGTCTCGATGGGGAAA	0.617																																						uc001obh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|pancreas(1)	2						c.(2239-2241)GAG>CAG		mitogen-activated protein kinase kinase kinase							97.0	89.0	92.0					11																	64557669		2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64557669C>G	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2239G>C	11.37:g.64557669C>G	ENSP00000294066:p.Glu747Gln					MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.E739Q	p.E747Q	NM_004579	NP_004570	Q12851	M4K2_HUMAN			29	2331	-			747			CNH.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.2239G>C	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232434	0.58777	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.05025	3.51;3.51	5.28	4.36	0.52297	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	L	0.60455	1.87	0.45837	D	0.998705	P;P	0.50710	0.938;0.938	P;P	0.53006	0.715;0.715	T	0.00121	-1.2028	10	0.87932	D	0	.	10.3895	0.44160	0.0:0.9069:0.0:0.0931	.	739;747	Q86VU3;Q12851	.;M4K2_HUMAN	Q	747;739	ENSP00000294066:E747Q;ENSP00000366567:E739Q	ENSP00000294066:E747Q	E	-	1	0	MAP4K2	64314245	1.000000	0.71417	0.983000	0.44433	0.955000	0.61496	4.787000	0.62432	2.494000	0.84150	0.555000	0.69702	GAG		0.617	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1		NM_004579		12	79	0	0	0	0.09319	0	12	79		
ATG2A	23130	broad.mit.edu	37	11	64662776	64662776	+	Missense_Mutation	SNP	C	C	T	rs373838276		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:64662776C>T	ENST00000377264.3	-	40	5678	c.5566G>A	c.(5566-5568)Gac>Aac	p.D1856N	ATG2A_ENST00000421419.2_Missense_Mutation_p.D1858N	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1856					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.D1856N(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGCACTGTGTCGTAGGCCTTG	0.706																																						uc001obx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(5566-5568)GAC>AAC		autophagy related 2A		C	ASN/ASP	1,4399		0,1,2199	33.0	38.0	37.0		5566	3.7	1.0	11		37	0,8588		0,0,4294	no	missense	ATG2A	NM_015104.2	23	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1856/1939	64662776	1,12987	2200	4294	6494	SO:0001583	missense	23130						protein binding	g.chr11:64662776C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5566G>A	11.37:g.64662776C>T	ENSP00000366475:p.Asp1856Asn					uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Missense_Mutation_p.D621N	p.D1856N	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			40	5681	-			1856					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5566G>A	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.85|18.85	3.711847|3.711847	0.68730|0.68730	2.27E-4|2.27E-4	0.0|0.0	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264|ENST00000418259	T;T|.	0.06849|.	3.25;3.25|.	3.7|3.7	3.7|3.7	0.42460|0.42460	Autophagy-related, C-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.38214|0.38214	0.1032|0.1032	N|N	0.11201|0.11201	0.11|0.11	0.58432|0.58432	D|D	0.999992|0.999992	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.21143|0.21143	-1.0254|-1.0254	10|5	0.34782|.	T|.	0.22|.	.|.	13.3567|13.3567	0.60631|0.60631	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1856;1858|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	N|Q	1858;249;1856|1659	ENSP00000410522:D1858N;ENSP00000366475:D1856N|.	ENSP00000366473:D249N|.	D|R	-|-	1|2	0|0	ATG2A|ATG2A	64419352|64419352	0.999000|0.999000	0.42202|0.42202	0.990000|0.990000	0.47175|0.47175	0.789000|0.789000	0.44602|0.44602	3.332000|3.332000	0.52083|0.52083	2.075000|2.075000	0.62263|0.62263	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.706	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		4	98	0	0	0	0.021553	0	4	98		
INPPL1	3636	broad.mit.edu	37	11	71949087	71949087	+	Splice_Site	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:71949087C>A	ENST00000298229.2	+	27	3758	c.3554C>A	c.(3553-3555)gCt>gAt	p.A1185D	INPPL1_ENST00000541756.1_Splice_Site_p.A943D|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Splice_Site_p.A943D	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1185					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.A1185D(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTCCTTAGGCTCCGTGCCTG	0.657											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001osf.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	skin(2)|ovary(1)|breast(1)	4						c.(3553-3555)GCT>GAT		inositol polyphosphate phosphatase-like 1							15.0	17.0	17.0					11																	71949087		2197	4291	6488	SO:0001630	splice_region_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71949087C>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3553-1C>A	11.37:g.71949087C>A			OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	INPPL1_uc001osg.2_Missense_Mutation_p.A943D	p.A1185D	NM_001567	NP_001558	O15357	SHIP2_HUMAN			27	3701	+			1185					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.3554C>A	CCDS8213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.01|12.01	1.810120|1.810120	0.32053|0.32053	.|.	.|.	ENSG00000165458|ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751|ENST00000320683	D;D;D|.	0.96716|.	-2.99;-4.1;-4.1|.	4.69|4.69	2.76|2.76	0.32466|0.32466	.|.	0.083463|.	0.47093|.	D|.	0.000259|.	T|T	0.34600|0.34600	0.0903|0.0903	N|N	0.14661|0.14661	0.345|0.345	0.36357|0.36357	D|D	0.860441|0.860441	P|.	0.44090|.	0.826|.	B|.	0.38655|.	0.278|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|5	0.44086|.	T|.	0.13|.	.|.	7.041|7.041	0.25021|0.25021	0.0:0.6953:0.1561:0.1486|0.0:0.6953:0.1561:0.1486	.|.	1185|.	O15357|.	SHIP2_HUMAN|.	D|I	1185;943;943|47	ENSP00000298229:A1185D;ENSP00000446360:A943D;ENSP00000444619:A943D|.	ENSP00000298229:A1185D|.	A|L	+|+	2|1	0|0	INPPL1|INPPL1	71626735|71626735	0.671000|0.671000	0.27521|0.27521	1.000000|1.000000	0.80357|0.80357	0.421000|0.421000	0.31385|0.31385	1.197000|1.197000	0.32211|0.32211	1.184000|1.184000	0.42957|0.42957	0.591000|0.591000	0.81541|0.81541	GCT|CTC		0.657	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1		NM_001567	Missense_Mutation	4	22	1	0	0.000602214	0.014758	0.000622838	4	22		
SLC35F2	54733	broad.mit.edu	37	11	107677535	107677535	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:107677535C>T	ENST00000525815.1	-	4	902	c.482G>A	c.(481-483)aGa>aAa	p.R161K	SLC35F2_ENST00000375682.4_Missense_Mutation_p.R114K|SLC35F2_ENST00000525071.1_Missense_Mutation_p.R161K|SLC35F2_ENST00000265836.7_Missense_Mutation_p.R13K|SLC35F2_ENST00000429869.1_Missense_Mutation_p.R161K	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	161					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R161K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GTGGATCACTCTGTATCTTGC	0.458																																						uc001pjq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(481-483)AGA>AAA		solute carrier family 35, member F2							136.0	135.0	135.0					11																	107677535		1982	4180	6162	SO:0001583	missense	54733				transport	integral to membrane		g.chr11:107677535C>T		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.482G>A	11.37:g.107677535C>T	ENSP00000436785:p.Arg161Lys					SLC35F2_uc010rvu.1_Missense_Mutation_p.R13K|SLC35F2_uc001pjs.2_Missense_Mutation_p.R161K	p.R161K	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	4	903	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	161					Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	37	c.482G>A	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302639	0.23736	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000265836;ENST00000375682;ENST00000429869	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	4.86	3.94	0.45596	.	0.146511	0.64402	N	0.000016	T	0.46073	0.1374	N	0.25245	0.725	0.29644	N	0.844473	B;B	0.06786	0.001;0.001	B;B	0.15870	0.014;0.012	T	0.33059	-0.9883	10	0.07030	T	0.85	.	9.6667	0.39988	0.0:0.8304:0.0:0.1696	.	161;161	E9PJD1;Q8IXU6	.;S35F2_HUMAN	K	161;161;13;114;161	ENSP00000436785:R161K;ENSP00000434307:R161K;ENSP00000364834:R114K;ENSP00000393571:R161K	ENSP00000265836:R13K	R	-	2	0	SLC35F2	107182745	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	1.040000	0.30278	1.013000	0.39391	0.655000	0.94253	AGA		0.458	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1		NM_017515		16	90	0	0	0	0.160694	0	16	90		
SDHD	6392	broad.mit.edu	37	11	111959637	111959637	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:111959637C>T	ENST00000375549.3	+	3	351	c.216C>T	c.(214-216)gtC>gtT	p.V72V	SDHD_ENST00000528021.1_Silent_p.V72V|TIMM8B_ENST00000504148.2_5'Flank|SDHD_ENST00000528048.1_Intron|TIMM8B_ENST00000507614.1_5'Flank|SDHD_ENST00000528182.1_Silent_p.V72V|SDHD_ENST00000532699.1_Silent_p.V72V|TIMM8B_ENST00000541231.1_5'Flank|SDHD_ENST00000526592.1_Silent_p.V72V|SDHD_ENST00000525291.1_Silent_p.V33V	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	72					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)	p.V72V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	AGAGGGTTGTCAGTGTTTTGC	0.498			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													uc001pmz.2		NaN	yes	Rec		Familial paraganglioma	11	11q23	6392	Mis|N|F|S	"""succinate dehydrogenase complex, subunit D, integral membrane protein"""			O		paraganglioma|pheochromocytoma			1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(214-216)GTC>GTT		succinate dehydrogenase complex, subunit D	Succinic acid(DB00139)						78.0	77.0	77.0					11																	111959637		2201	4294	6495	SO:0001819	synonymous_variant	6392	Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding	g.chr11:111959637C>T	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"""Mitochondrial respiratory chain complex / Complex II"""	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.216C>T	11.37:g.111959637C>T						TIMM8B_uc001pmx.2_5'Flank|TIMM8B_uc001pmy.2_5'Flank	p.V72V	NM_003002	NP_002993	O14521	DHSD_HUMAN		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	3	277	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	72			Helical; (By similarity).		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Silent	SNP	ENST00000375549.3	37	c.216C>T	CCDS31678.1																																																																																				0.498	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392351.1		NM_003002		22	63	0	0	0	0.062417	0	22	63		
APOA4	337	broad.mit.edu	37	11	116692360	116692360	+	Nonsense_Mutation	SNP	G	G	T	rs145317065		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:116692360G>T	ENST00000357780.3	-	3	528	c.414C>A	c.(412-414)taC>taA	p.Y138*		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	138	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)	p.Y138*(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCTGGTCCGCGTagggctcca	0.682																																						uc001pps.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(412-414)TAC>TAA		apolipoprotein A-IV precursor							33.0	34.0	34.0					11																	116692360		2201	4295	6496	SO:0001587	stop_gained	337							g.chr11:116692360G>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.414C>A	11.37:g.116692360G>T	ENSP00000350425:p.Tyr138*						p.Y138*	NM_000482	NP_000473				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	518	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Nonsense_Mutation	SNP	ENST00000357780.3	37	c.414C>A	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227642	0.39399	.	.	ENSG00000110244	ENST00000357780	.	.	.	4.8	1.75	0.24633	.	0.866438	0.10164	N	0.707938	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0655	6.0893	0.19985	0.1616:0.2957:0.5427:0.0	.	.	.	.	X	138	.	ENSP00000350425:Y138X	Y	-	3	2	APOA4	116197570	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.358000	0.07641	0.073000	0.16731	0.462000	0.41574	TAC		0.682	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2		NM_000482		11	42	1	0	0.000978159	0.080935	0.00100478	11	42		
KMT2A	4297	broad.mit.edu	37	11	118375024	118375024	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:118375024C>T	ENST00000389506.5	+	27	8408	c.8408C>T	c.(8407-8409)tCa>tTa	p.S2803L	KMT2A_ENST00000534358.1_Missense_Mutation_p.S2806L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2765L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2803					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.S2806L(1)|p.S2803L(1)									CAGCTCAGCTCATTGGAGTCA	0.443																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		urinary_tract(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(8407-8409)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia							88.0	91.0	90.0					11																	118375024		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118375024C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8408C>T	11.37:g.118375024C>T	ENSP00000374157:p.Ser2803Leu					MLL_uc001ptb.2_Missense_Mutation_p.S2806L	p.S2803L	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	8431	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2803					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8408C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715574	0.30413	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.81996	-1.56;-1.56;-1.52	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000011	D	0.87928	0.6301	L	0.36672	1.1	0.47214	D	0.999353	D;D	0.63880	0.993;0.993	D;D	0.72338	0.977;0.977	D	0.85109	0.0962	10	0.35671	T	0.21	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2806;2803	E9PQG7;Q03164	.;MLL1_HUMAN	L	2806;2803;2765;1713	ENSP00000436786:S2806L;ENSP00000374157:S2803L;ENSP00000346516:S2765L	ENSP00000346516:S2765L	S	+	2	0	MLL	117880234	0.999000	0.42202	0.952000	0.39060	0.971000	0.66376	5.359000	0.66074	2.941000	0.99782	0.655000	0.94253	TCA		0.443	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		5	165	0	0	0	0.014758	0	5	165		
ROBO4	54538	broad.mit.edu	37	11	124755027	124755027	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr11:124755027G>A	ENST00000306534.3	-	17	3396	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	ROBO4_ENST00000533054.1_Missense_Mutation_p.R826W|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	971					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R971W(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTTCCCAGCCGCTGGGTGTGG	0.622																																						uc001qbg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2911-2913)CGG>TGG		roundabout homolog 4, magic roundabout							53.0	56.0	55.0					11																	124755027		2201	4298	6499	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124755027G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2911C>T	11.37:g.124755027G>A	ENSP00000304945:p.Arg971Trp					ROBO4_uc010sas.1_Missense_Mutation_p.R826W	p.R971W	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	17	3051	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	971					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2911C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	5.291	0.239126	0.10023	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.72505	-0.66;-0.31	5.11	0.894	0.19242	.	0.449261	0.16543	N	0.209824	T	0.48095	0.1481	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34030	-0.9845	10	0.51188	T	0.08	.	4.1317	0.10152	0.187:0.0:0.3265:0.4865	.	971	Q8WZ75	ROBO4_HUMAN	W	971;826	ENSP00000304945:R971W;ENSP00000437129:R826W	ENSP00000304945:R971W	R	-	1	2	ROBO4	124260237	0.018000	0.18449	0.014000	0.15608	0.056000	0.15407	0.201000	0.17276	0.125000	0.18397	-0.152000	0.13540	CGG		0.622	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1		NM_019055		17	81	0	0	0	0.069288	0	17	81		
GALNT8	26290	broad.mit.edu	37	12	4835834	4835834	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:4835834G>C	ENST00000252318.2	+	2	685	c.348G>C	c.(346-348)atG>atC	p.M116I	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	116					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.M116I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAACCCAAATGAAACTCTTCC	0.498																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(346-348)ATG>ATC		polypeptide N-acetylgalactosaminyltransferase 8							66.0	64.0	65.0					12																	4835834		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835834G>C	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.348G>C	12.37:g.4835834G>C	ENSP00000252318:p.Met116Ile						p.M116I	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			2	440	+			116			Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.348G>C	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	7.807	0.714906	0.15306	.	.	ENSG00000130035	ENST00000252318	T	0.51071	0.72	3.38	1.52	0.23074	.	5.801820	0.01091	N	0.005179	T	0.34629	0.0904	N	0.22421	0.69	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.18023	-1.0350	10	0.46703	T	0.11	.	3.9818	0.09498	0.1284:0.0:0.6393:0.2323	.	116	Q9NY28	GALT8_HUMAN	I	116	ENSP00000252318:M116I	ENSP00000252318:M116I	M	+	3	0	GALNT8	4706095	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.297000	0.19101	0.163000	0.19507	-0.158000	0.13435	ATG		0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2		NM_017417		3	36	0	0	0	0.115264	0	3	36		
ASUN	55726	broad.mit.edu	37	12	27077408	27077408	+	Silent	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:27077408C>A	ENST00000261191.7	-	7	1220	c.684G>T	c.(682-684)ccG>ccT	p.P228P	ASUN_ENST00000539625.1_Silent_p.P127P	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	228					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P228P(1)									TGGTTAAAACCGGGGACAACT	0.318																																						uc001rhk.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(682-684)CCG>CCT		hypothetical protein LOC55726							79.0	81.0	80.0					12																	27077408		2203	4300	6503	SO:0001819	synonymous_variant	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27077408C>A	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.684G>T	12.37:g.27077408C>A						C12orf11_uc010sjk.1_Silent_p.P127P	p.P228P	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			7	1221	-	Colorectal(261;0.0847)		228					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	c.684G>T	CCDS8708.1																																																																																				0.318	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1		NM_018164		28	104	1	0	2.47511e-08	0.134883	2.63198e-08	28	104		
CYP27B1	1594	broad.mit.edu	37	12	58157882	58157882	+	Splice_Site	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:58157882T>G	ENST00000228606.4	-	7	1423	c.1214A>C	c.(1213-1215)aAt>aCt	p.N405T	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	405					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.N405T(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TTTACTCACATTTTTGGGGAT	0.458																																						uc001spz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(3)	3						c.(1213-1215)AAT>ACT		cytochrome P450, family 27, subfamily B,	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						92.0	84.0	87.0					12																	58157882		2203	4300	6503	SO:0001630	splice_region_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58157882T>G	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.1215+1A>C	12.37:g.58157882T>G						CYP27B1_uc001sqa.1_Missense_Mutation_p.N170T	p.N405T	NM_000785	NP_000776	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		7	1366	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		405					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.1214A>C	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571387	0.45798	.	.	ENSG00000111012	ENST00000228606	T	0.69306	-0.39	4.65	2.13	0.27403	.	0.329901	0.34110	N	0.004249	T	0.69788	0.3150	M	0.65975	2.015	0.38157	D	0.938926	B	0.33694	0.421	P	0.45794	0.493	T	0.70673	-0.4807	10	0.87932	D	0	.	8.6549	0.34058	0.0:0.1675:0.0:0.8325	.	405	O15528	CP27B_HUMAN	T	405	ENSP00000228606:N405T	ENSP00000228606:N405T	N	-	2	0	CYP27B1	56444149	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.533000	0.60615	0.251000	0.21505	0.379000	0.24179	AAT		0.458	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1		NM_000785	Missense_Mutation	17	44	0	0	0	0.175082	0	17	44		
KNTC1	9735	broad.mit.edu	37	12	123057784	123057784	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:123057784G>C	ENST00000333479.7	+	26	2412	c.2235G>C	c.(2233-2235)atG>atC	p.M745I	KNTC1_ENST00000450485.2_Missense_Mutation_p.M708I	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	745					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.M745I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAGTTTACATGAGAGAACATG	0.398																																						uc001ucv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(2233-2235)ATG>ATC		Rough Deal homolog, centromere/kinetochore							168.0	165.0	166.0					12																	123057784		1840	4093	5933	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123057784G>C		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2235G>C	12.37:g.123057784G>C	ENSP00000328236:p.Met745Ile					KNTC1_uc010taf.1_Missense_Mutation_p.M708I	p.M745I	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	26	2398	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		745					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.2235G>C	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	2.045	-0.419131	0.04766	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.25414	1.8;2.33	5.66	3.77	0.43336	.	0.312185	0.41500	N	0.000865	T	0.17280	0.0415	L	0.29908	0.895	0.46954	D	0.999269	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.05903	-1.0857	10	0.19147	T	0.46	-14.5569	10.8181	0.46589	0.0:0.1926:0.5712:0.2362	.	708;745	E7ES84;P50748	.;KNTC1_HUMAN	I	708;745	ENSP00000397992:M708I;ENSP00000328236:M745I	ENSP00000328236:M745I	M	+	3	0	KNTC1	121623737	0.287000	0.24315	0.628000	0.29241	0.154000	0.21943	0.543000	0.23237	0.690000	0.31570	-0.182000	0.12963	ATG		0.398	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				33	157	0	0	0	0.173368	0	33	157		
KNTC1	9735	broad.mit.edu	37	12	123057806	123057806	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr12:123057806G>A	ENST00000333479.7	+	26	2434	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	KNTC1_ENST00000450485.2_Missense_Mutation_p.E716K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	753					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.E753K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTTGCAAGAGGAGGAACTTCT	0.378																																						uc001ucv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(2257-2259)GAG>AAG		Rough Deal homolog, centromere/kinetochore							179.0	177.0	178.0					12																	123057806		1850	4096	5946	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123057806G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2257G>A	12.37:g.123057806G>A	ENSP00000328236:p.Glu753Lys					KNTC1_uc010taf.1_Missense_Mutation_p.E716K	p.E753K	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	26	2420	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		753					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.2257G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555004	0.65425	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.24723	1.84;2.43	5.66	5.66	0.87406	.	0.115161	0.64402	D	0.000013	T	0.43964	0.1271	L	0.51422	1.61	0.80722	D	1	D;D	0.56968	0.978;0.963	P;P	0.57911	0.829;0.63	T	0.21999	-1.0229	10	0.66056	D	0.02	-21.474	19.7375	0.96212	0.0:0.0:1.0:0.0	.	716;753	E7ES84;P50748	.;KNTC1_HUMAN	K	716;753	ENSP00000397992:E716K;ENSP00000328236:E753K	ENSP00000328236:E753K	E	+	1	0	KNTC1	121623759	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	8.283000	0.89909	2.680000	0.91292	0.655000	0.94253	GAG		0.378	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				28	153	0	0	0	0.134883	0	28	153		
DCLK1	9201	broad.mit.edu	37	13	36401843	36401843	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr13:36401843G>C	ENST00000360631.3	-	10	1547	c.1336C>G	c.(1336-1338)Ccc>Gcc	p.P446A	DCLK1_ENST00000379893.1_Missense_Mutation_p.P139A|DCLK1_ENST00000255448.4_Missense_Mutation_p.P446A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.P446A(2)|p.P139A(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACGATATTGGGATGCTTCACT	0.388																																						uc001uvf.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	stomach(6)|ovary(2)|skin(1)	9						c.(1336-1338)CCC>GCC		doublecortin-like kinase 1							176.0	154.0	162.0					13																	36401843		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36401843G>C	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1336C>G	13.37:g.36401843G>C	ENSP00000353846:p.Pro446Ala					DCLK1_uc001uve.3_Missense_Mutation_p.P139A|DCLK1_uc010teh.1_Missense_Mutation_p.P139A|DCLK1_uc010abk.2_Intron	p.P446A	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	10	1569	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	446			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1336C>G		.	.	.	.	.	.	.	.	.	.	G	29.0	4.968407	0.92855	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.52983	0.64;0.64;0.64	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.987;0.996;0.987	T	0.79198	-0.1902	10	0.72032	D	0.01	.	20.1379	0.98040	0.0:0.0:1.0:0.0	.	139;446;139	O15075-4;O15075-2;O15075-3	.;.;.	A	138;446;446;139;446	ENSP00000255448:P446A;ENSP00000353846:P446A;ENSP00000369223:P139A	ENSP00000255448:P446A	P	-	1	0	DCLK1	35299843	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	9.756000	0.98918	2.779000	0.95612	0.655000	0.94253	CCC		0.388	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1		NM_004734		15	105	0	0	0	0.132662	0	15	105		
LPAR6	10161	broad.mit.edu	37	13	48985928	48985928	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr13:48985928A>C	ENST00000378434.4	-	7	2256	c.632T>G	c.(631-633)tTa>tGa	p.L211*	LPAR6_ENST00000345941.2_Nonsense_Mutation_p.L211*|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)|p.L211*(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AGGTTTGGTTAAAGTTTTTAG	0.264																																						uc010acu.2		NaN																	20	Whole gene deletion(15)|Unknown(4)|Substitution - Nonsense(1)	p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|urinary_tract(1)	ovary(4)	4						c.(631-633)TTA>TGA		G-protein coupled purinergic receptor P2Y5							42.0	44.0	43.0					13																	48985928		2201	4299	6500	SO:0001587	stop_gained	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985928A>C	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.632T>G	13.37:g.48985928A>C	ENSP00000367691:p.Leu211*					RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Nonsense_Mutation_p.L211*|LPAR6_uc001vcf.2_Nonsense_Mutation_p.L211*	p.L211*	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN			1	1726	-			211			Cytoplasmic (Potential).		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Nonsense_Mutation	SNP	ENST00000378434.4	37	c.632T>G	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	A	45	11.972708	0.99623	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	.	.	.	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3034	0.82836	1.0:0.0:0.0:0.0	.	.	.	.	X	211	.	ENSP00000344353:L211X	L	-	2	0	LPAR6	47883929	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.339000	0.96797	2.245000	0.73994	0.454000	0.30748	TTA		0.264	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2		NM_005767		10	61	0	0	0	0.069234	0	10	61		
CIDEB	27141	broad.mit.edu	37	14	24776597	24776597	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:24776597G>A	ENST00000336557.5	-	5	1468	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	LTB4R2_ENST00000543919.1_5'Flank|CIDEB_ENST00000554411.1_Missense_Mutation_p.R56C|LTB4R2_ENST00000533293.1_5'Flank|LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000258807.5_Missense_Mutation_p.R56C|NOP9_ENST00000267425.3_3'UTR			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	56	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)	p.R56C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		AGCTCCTGGCGGGTGGCAGCT	0.587																																						uc001won.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(166-168)CGC>TGC		cell death-inducing DFFA-like effector b							79.0	77.0	78.0					14																	24776597		2203	4300	6503	SO:0001583	missense	27141				apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol		g.chr14:24776597G>A	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.166C>T	14.37:g.24776597G>A	ENSP00000337731:p.Arg56Cys					CIDEB_uc001woo.2_Missense_Mutation_p.R56C|CIDEB_uc001wop.2_Missense_Mutation_p.R56C|LTB4R2_uc001woq.1_5'Flank|LTB4R2_uc010alo.2_5'Flank|LTB4R2_uc001wor.2_5'Flank	p.R56C	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	290	-			56			CIDE-N.		D3DS73|Q546V8|Q9NNW9	Missense_Mutation	SNP	ENST00000336557.5	37	c.166C>T	CCDS32056.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282985	0.80692	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	T;T;T	0.41400	1.0;1.0;1.0	5.55	1.11	0.20524	Caspase-activated nuclease CIDE-N (3);	0.326142	0.29342	N	0.012428	T	0.39809	0.1092	L	0.36672	1.1	0.58432	D	0.999997	D	0.55800	0.973	P	0.55345	0.774	T	0.20273	-1.0280	10	0.59425	D	0.04	0.2438	5.0641	0.14572	0.3415:0.0:0.5209:0.1376	.	56	Q9UHD4	CIDEB_HUMAN	C	56	ENSP00000451089:R56C;ENSP00000337731:R56C;ENSP00000258807:R56C	ENSP00000258807:R56C	R	-	1	0	CIDEB	23846437	1.000000	0.71417	0.274000	0.24659	0.998000	0.95712	2.210000	0.42816	0.286000	0.22352	0.655000	0.94253	CGC		0.587	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1				15	114	0	0	0	0.146539	0	15	114		
PTGDR	5729	broad.mit.edu	37	14	52735281	52735281	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:52735281G>A	ENST00000306051.2	+	1	851	c.749G>A	c.(748-750)gGg>gAg	p.G250E	PTGDR_ENST00000553372.1_Missense_Mutation_p.G250E	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	250					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.G250E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCGCGGACGGGAGGGAAGCG	0.667																																						uc001wzq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(748-750)GGG>GAG		prostaglandin D2 receptor	Nedocromil(DB00716)						56.0	57.0	57.0					14																	52735281		2201	4298	6499	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735281G>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.749G>A	14.37:g.52735281G>A	ENSP00000303424:p.Gly250Glu						p.G250E	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	851	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		250			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.749G>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	G	1.074	-0.669077	0.03403	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.17370	2.28;2.67	3.89	-2.9	0.05648	GPCR, rhodopsin-like superfamily (1);	1.403430	0.04796	N	0.432573	T	0.07143	0.0181	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.29336	-1.0015	10	0.10111	T	0.7	-0.3802	0.9608	0.01395	0.3275:0.1748:0.3273:0.1703	.	250	Q13258	PD2R_HUMAN	E	250	ENSP00000303424:G250E;ENSP00000452408:G250E	ENSP00000303424:G250E	G	+	2	0	PTGDR	51805031	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.413000	0.07123	-0.575000	0.05982	-0.471000	0.05019	GGG		0.667	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1		NM_000953		36	148	0	0	0	0.183431	0	36	148		
GPHB5	122876	broad.mit.edu	37	14	63784372	63784372	+	RNA	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:63784372C>T	ENST00000539258.1	-	0	248							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.E64K(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TCCCAGGTCTCACAGCGACCC	0.532																																						uc010apu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)	1						c.(190-192)GTG>GTA		glycoprotein beta 5							39.0	42.0	41.0					14																	63784372		2032	4182	6214			122876					extracellular region	hormone activity	g.chr14:63784372C>T	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784372C>T						GPHB5_uc001xgc.2_Silent_p.V54V	p.V64V	NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	1	192	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6NTD0|Q8NFW2	Silent	SNP	ENST00000539258.1	37	c.192G>A																																																																																					0.532	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1		NM_145171		6	50	0	0	0	0.02938	0	6	50		
ACTN1	87	broad.mit.edu	37	14	69371375	69371375	+	Missense_Mutation	SNP	C	C	T	rs387907350		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr14:69371375C>T	ENST00000193403.6	-	7	1056	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	ACTN1_ENST00000394419.4_Missense_Mutation_p.E225K|ACTN1_ENST00000376839.3_Missense_Mutation_p.E160K|ACTN1_ENST00000538545.2_Missense_Mutation_p.E225K|ACTN1_ENST00000438964.2_Missense_Mutation_p.E225K|ACTN1_ENST00000554508.1_5'UTR	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	225	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.		E -> K (in BDPLT15). {ECO:0000269|PubMed:23434115}.		actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.E225K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTTCACCTTCGGCATCCAGC	0.567																																						uc001xkl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(673-675)GAA>AAA		actinin, alpha 1 isoform b							159.0	119.0	133.0					14																	69371375		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69371375C>T	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.673G>A	14.37:g.69371375C>T	ENSP00000193403:p.Glu225Lys					ACTN1_uc010ttb.1_Missense_Mutation_p.E160K|ACTN1_uc001xkm.2_Missense_Mutation_p.E225K|ACTN1_uc001xkn.2_Missense_Mutation_p.E225K|ACTN1_uc001xko.1_Missense_Mutation_p.E160K|ACTN1_uc010ttd.1_Missense_Mutation_p.E204K	p.E225K	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	7	983	-			225			CH 2.|Actin-binding.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.673G>A	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589057	0.96590	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.83	4.83	0.62350	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.84028	0.5382	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.989;0.987	D;D;D;D	0.85130	0.937;0.997;0.91;0.924	D	0.86621	0.1879	10	0.87932	D	0	.	18.4759	0.90792	0.0:1.0:0.0:0.0	.	225;225;225;225	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	K	225;225;225;160;225;160;204	ENSP00000193403:E225K;ENSP00000377941:E225K;ENSP00000414272:E225K;ENSP00000366035:E160K;ENSP00000439828:E225K;ENSP00000450903:E160K;ENSP00000450764:E204K	ENSP00000193403:E225K	E	-	1	0	ACTN1	68441128	1.000000	0.71417	0.989000	0.46669	0.893000	0.52053	7.591000	0.82666	2.682000	0.91365	0.555000	0.69702	GAA		0.567	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3		NM_001102		6	114	0	0	0	0.047766	0	6	114		
INO80	54617	broad.mit.edu	37	15	41372084	41372084	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:41372084T>A	ENST00000361937.3	-	9	1370	c.946A>T	c.(946-948)Aag>Tag	p.K316*	INO80_ENST00000401393.3_Nonsense_Mutation_p.K316*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	316	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. {ECO:0000255|PROSITE- ProRule:PRU00746}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.K316*(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGCACCTCCTTCATGCACTGG	0.527																																						uc001zni.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(946-948)AAG>TAG		INO80 complex homolog 1							96.0	97.0	97.0					15																	41372084		2203	4300	6503	SO:0001587	stop_gained	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41372084T>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.946A>T	15.37:g.41372084T>A	ENSP00000355205:p.Lys316*					INO80_uc010ucu.1_RNA	p.K316*	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			9	1159	-			316			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.		A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	c.946A>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	35	5.503169	0.96371	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	4.91	4.91	0.64330	.	0.054915	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2674	0.60141	0.0:0.0:0.0:1.0	.	.	.	.	X	316	.	ENSP00000355205:K316X	K	-	1	0	INO80	39159376	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	3.796000	0.55507	2.075000	0.62263	0.383000	0.25322	AAG		0.527	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		30	200	0	0	0	0.144211	0	30	200		
SPG11	80208	broad.mit.edu	37	15	44876169	44876169	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:44876169A>C	ENST00000261866.7	-	30	5725	c.5709T>G	c.(5707-5709)ttT>ttG	p.F1903L	SPG11_ENST00000535302.2_Missense_Mutation_p.F1903L|SPG11_ENST00000558319.1_Missense_Mutation_p.F1903L|SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000427534.2_Missense_Mutation_p.F1903L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1903					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.F1903L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTGGATTATAAAAATGAAAAT	0.473																																						uc001ztx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(5707-5709)TTT>TTG		spatacsin isoform 1							103.0	93.0	96.0					15																	44876169		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876169A>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5709T>G	15.37:g.44876169A>C	ENSP00000261866:p.Phe1903Leu					SPG11_uc010bdw.2_Missense_Mutation_p.F192L|SPG11_uc010ueh.1_Missense_Mutation_p.F1903L|SPG11_uc010uei.1_Missense_Mutation_p.F1903L|SPG11_uc001zty.1_Missense_Mutation_p.F632L	p.F1903L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	30	5740	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1903			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5709T>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	2.224	-0.377753	0.05000	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77489	-1.1;-0.79;-0.84	5.62	2.77	0.32553	.	0.199876	0.44097	D	0.000485	T	0.64670	0.2619	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.09022	0.001;0.002;0.001;0.001	B;B;B;B	0.11329	0.004;0.006;0.004;0.004	T	0.52704	-0.8540	10	0.27785	T	0.31	.	3.1436	0.06464	0.1962:0.1178:0.5644:0.1215	.	1903;1903;1903;1903	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	L	1903	ENSP00000261866:F1903L;ENSP00000445278:F1903L;ENSP00000396110:F1903L	ENSP00000261866:F1903L	F	-	3	2	SPG11	42663461	1.000000	0.71417	0.709000	0.30452	0.206000	0.24218	0.925000	0.28791	0.349000	0.23975	-2.026000	0.00426	TTT		0.473	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1				16	65	0	0	0	0.160694	0	16	65		
SPG11	80208	broad.mit.edu	37	15	44876180	44876180	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:44876180A>C	ENST00000261866.7	-	30	5714	c.5698T>G	c.(5698-5700)Tat>Gat	p.Y1900D	SPG11_ENST00000535302.2_Missense_Mutation_p.Y1900D|SPG11_ENST00000558319.1_Missense_Mutation_p.Y1900D|SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000427534.2_Missense_Mutation_p.Y1900D	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1900					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.Y1900D(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAATGAAAATACCGGCATACT	0.473																																						uc001ztx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(5698-5700)TAT>GAT		spatacsin isoform 1							111.0	98.0	102.0					15																	44876180		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876180A>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5698T>G	15.37:g.44876180A>C	ENSP00000261866:p.Tyr1900Asp					SPG11_uc010bdw.2_Missense_Mutation_p.Y189D|SPG11_uc010ueh.1_Missense_Mutation_p.Y1900D|SPG11_uc010uei.1_Missense_Mutation_p.Y1900D|SPG11_uc001zty.1_Missense_Mutation_p.Y629D	p.Y1900D	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	30	5729	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1900			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5698T>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240427	0.58995	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78707	-1.2;-0.98;-0.94	5.62	4.43	0.53597	.	0.146915	0.47852	D	0.000217	D	0.86489	0.5945	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.992;0.996;0.996	D	0.87827	0.2642	10	0.72032	D	0.01	.	12.3992	0.55404	0.8598:0.1402:0.0:0.0	.	1900;1900;1900;1900	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	D	1900	ENSP00000261866:Y1900D;ENSP00000445278:Y1900D;ENSP00000396110:Y1900D	ENSP00000261866:Y1900D	Y	-	1	0	SPG11	42663472	1.000000	0.71417	0.958000	0.39756	0.487000	0.33371	6.434000	0.73408	2.146000	0.66826	0.460000	0.39030	TAT		0.473	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1				17	73	0	0	0	0.175082	0	17	73		
CSNK1G1	53944	broad.mit.edu	37	15	64496768	64496768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:64496768G>A	ENST00000303052.7	-	9	1294	c.871C>T	c.(871-873)Cga>Tga	p.R291*	CSNK1G1_ENST00000607537.1_Nonsense_Mutation_p.R291*|CTD-2116N17.1_ENST00000606793.1_Nonsense_Mutation_p.R273*|CSNK1G1_ENST00000303032.6_Nonsense_Mutation_p.R291*	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	291	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R291*(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTGACATATCGAAGGTAGGTT	0.448																																						uc002anf.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(871-873)CGA>TGA		casein kinase 1, gamma 1							99.0	95.0	96.0					15																	64496768		2203	4300	6503	SO:0001587	stop_gained	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64496768G>A	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.871C>T	15.37:g.64496768G>A	ENSP00000305777:p.Arg291*					CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Nonsense_Mutation_p.R291*|CSNK1G1_uc002anh.1_Nonsense_Mutation_p.R291*|CSNK1G1_uc002anj.2_Nonsense_Mutation_p.R273*	p.R291*	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			9	1351	-			291			Protein kinase.		Q5JPH1|Q96AE9|Q9HCP1	Nonsense_Mutation	SNP	ENST00000303052.7	37	c.871C>T	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	40	8.485395	0.98832	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	.	.	.	5.67	5.67	0.87782	.	0.059963	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	X	291;247;291	.	ENSP00000307753:R291X	R	-	1	2	CSNK1G1	62283821	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.539000	0.67199	2.677000	0.91161	0.655000	0.94253	CGA		0.448	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1		NM_022048		4	148	0	0	0	0.021553	0	4	148		
CD276	80381	broad.mit.edu	37	15	73994784	73994784	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:73994784G>A	ENST00000318443.5	+	3	570	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	CD276_ENST00000537340.2_5'UTR|CD276_ENST00000318424.5_Missense_Mutation_p.A90T|CD276_ENST00000561213.1_Missense_Mutation_p.A90T|CD276_ENST00000564751.1_Missense_Mutation_p.A90T	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	90	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.A90T(1)		endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CAGCGCCTATGCCAACCGCAC	0.642																																						uc002avv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(268-270)GCC>ACC		CD276 antigen isoform a							54.0	47.0	49.0					15																	73994784		2198	4297	6495	SO:0001583	missense	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73994784G>A	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.268G>A	15.37:g.73994784G>A	ENSP00000320084:p.Ala90Thr					CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.A90T|CD276_uc002avw.1_Missense_Mutation_p.A90T|CD276_uc010ulb.1_Missense_Mutation_p.A36T|CD276_uc002avx.2_5'Flank	p.A90T	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN			3	502	+			90			Ig-like V-type 1.|Extracellular (Potential).		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	c.268G>A	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	G	7.066	0.567324	0.13560	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000543481	T;T	0.65549	-0.16;-0.16	2.75	1.8	0.24995	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40956	0.1138	N	0.17278	0.47	0.25565	N	0.986951	B;B;B;B	0.20261	0.01;0.014;0.043;0.035	B;B;B;B	0.20384	0.003;0.014;0.029;0.017	T	0.26608	-1.0098	9	0.41790	T	0.15	-24.7161	4.0091	0.09615	0.206:0.0:0.5921:0.2019	.	36;90;90;90	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	T	90	ENSP00000320058:A90T;ENSP00000320084:A90T	ENSP00000320058:A90T	A	+	1	0	CD276	71781837	0.990000	0.36364	0.987000	0.45799	0.416000	0.31233	2.006000	0.40874	0.700000	0.31782	0.306000	0.20318	GCC		0.642	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1		NM_025240		5	60	0	0	0	0.014758	0	5	60		
AGBL1	123624	broad.mit.edu	37	15	87217600	87217600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr15:87217600C>T	ENST00000441037.2	+	22	3111	c.3016C>T	c.(3016-3018)Cag>Tag	p.Q1006*	AGBL1_ENST00000421325.2_Nonsense_Mutation_p.Q1006*|AGBL1_ENST00000389298.3_Nonsense_Mutation_p.Q737*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1006					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.Q1006*(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTGCAGCCATCAGCTCCTGGC	0.562																																						uc002blz.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(3016-3018)CAG>TAG		ATP/GTP binding protein-like 1							39.0	40.0	40.0					15																	87217600		2001	4170	6171	SO:0001587	stop_gained	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87217600C>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3016C>T	15.37:g.87217600C>T	ENSP00000413001:p.Gln1006*						p.Q1006*	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			22	3096	+			1006					A1A4X5|A6NJH6|C9JHL5	Nonsense_Mutation	SNP	ENST00000441037.2	37	c.3016C>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	38	6.935863	0.97948	.	.	ENSG00000166748	ENST00000421325;ENST00000389298	.	.	.	5.63	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-9.8016	10.9501	0.47323	0.4562:0.5438:0.0:0.0	.	.	.	.	X	1006;737	.	ENSP00000373949:Q737X	Q	+	1	0	AGBL1	85018604	0.076000	0.21285	0.994000	0.49952	0.943000	0.58893	0.115000	0.15540	1.310000	0.45006	0.563000	0.77884	CAG		0.562	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5		NM_152336		7	24	0	0	0	0.02938	0	7	24		
MSLNL	401827	broad.mit.edu	37	16	823284	823284	+	Missense_Mutation	SNP	C	C	T	rs569040527	byFrequency	TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:823284C>T	ENST00000442466.1	-	9	930	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	MSLNL_ENST00000293892.3_Missense_Mutation_p.A662T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	311					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.A662T(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGCAGCGTGGCGGCCGTGATG	0.652													.|||	2	0.000399361	0.0	0.0	5008	,	,		14990	0.0		0.0	False		,,,				2504	0.002					uc002cjz.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|endometrium(1)	breast(3)|ovary(1)	4						c.(1984-1986)GCC>ACC		mesothelin-like							44.0	49.0	47.0					16																	823284		2125	4221	6346	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:823284C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.931G>A	16.37:g.823284C>T	ENSP00000415767:p.Ala311Thr						p.A662T	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			10	1984	-			311			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442466.1	37	c.1984G>A		.	.	.	.	.	.	.	.	.	.	c	9.007	0.981520	0.18812	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11277	2.79;2.79;2.79	4.19	2.04	0.26737	.	0.355153	0.25543	N	0.029951	T	0.12774	0.0310	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.58331	0.837	T	0.14783	-1.0460	9	0.14656	T	0.56	-31.8854	5.7854	0.18331	0.0:0.6201:0.2667:0.1132	.	311	Q96KJ4	MSLNL_HUMAN	T	361;311;662	ENSP00000441381:A361T;ENSP00000415767:A311T;ENSP00000293892:A662T	ENSP00000293892:A662T	A	-	1	0	MSLNL	763285	0.000000	0.05858	0.532000	0.27989	0.072000	0.16883	-0.097000	0.11042	1.102000	0.41551	0.543000	0.68304	GCC		0.652	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001025190		17	80	0	0	0	0.146539	0	17	80		
ZNF597	146434	broad.mit.edu	37	16	3486866	3486866	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:3486866T>G	ENST00000301744.4	-	4	1068	c.833A>C	c.(832-834)aAt>aCt	p.N278T		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N278T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TGGTTTCTCATTAAAATGTTT	0.443																																						uc002cvd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(832-834)AAT>ACT		zinc finger protein 597							116.0	115.0	115.0					16																	3486866		2197	4300	6497	SO:0001583	missense	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3486866T>G	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.833A>C	16.37:g.3486866T>G	ENSP00000301744:p.Asn278Thr						p.N278T	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN			4	1017	-			278						Missense_Mutation	SNP	ENST00000301744.4	37	c.833A>C	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	T	6.633	0.485158	0.12641	.	.	ENSG00000167981	ENST00000301744	T	0.59364	0.27	4.76	-1.87	0.07737	.	1.713730	0.03515	N	0.220198	T	0.34716	0.0907	N	0.13140	0.3	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.06643	-1.0815	10	0.28530	T	0.3	1.1518	1.1788	0.01841	0.1653:0.2414:0.1421:0.4511	.	278	Q96LX8	ZN597_HUMAN	T	278	ENSP00000301744:N278T	ENSP00000301744:N278T	N	-	2	0	ZNF597	3426867	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.347000	0.01095	-0.400000	0.07656	-0.911000	0.02809	AAT		0.443	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2		NM_152457		36	204	0	0	0	0.080422	0	36	204		
C16orf89	146556	broad.mit.edu	37	16	5110356	5110356	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:5110356G>A	ENST00000315997.5	-	3	641	c.440C>T	c.(439-441)aCg>aTg	p.T147M	C16orf89_ENST00000472572.3_Missense_Mutation_p.T147M|C16orf89_ENST00000422873.1_Missense_Mutation_p.T185M|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Missense_Mutation_p.T185M|C16orf89_ENST00000474471.3_Missense_Mutation_p.T147M	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	147						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)	p.T185M(2)|p.T147M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGGCCCGAACGTGGGGTACAC	0.597																																						uc010bud.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(1)|skin(1)	2						c.(553-555)ACG>ATG		hypothetical protein LOC146556 isoform 1							46.0	52.0	50.0					16																	5110356		1989	4173	6162	SO:0001583	missense	146556					extracellular region		g.chr16:5110356G>A		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.440C>T	16.37:g.5110356G>A	ENSP00000324672:p.Thr147Met					ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.T185M	p.T185M	NM_152459	NP_689672	Q6UX73	CP089_HUMAN			3	642	-			147					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.554C>T	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202885	0.38905	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.11	-5.0	0.03001	.	1.588200	0.03458	N	0.211830	T	0.29126	0.0724	L	0.51422	1.61	0.09310	N	1	D;D	0.61697	0.99;0.989	P;P	0.48454	0.469;0.578	T	0.42327	-0.9458	10	0.33940	T	0.23	-0.0029	3.5325	0.07782	0.0895:0.1727:0.1931:0.5446	.	147;185	Q6UX73;G3V0F0	CP089_HUMAN;.	M	147;147;147;185;185;147	ENSP00000417158:T147M;ENSP00000420566:T147M;ENSP00000390402:T185M;ENSP00000283478:T185M;ENSP00000324672:T147M	ENSP00000324672:T147M	T	-	2	0	C16orf89	5050357	0.000000	0.05858	0.001000	0.08648	0.306000	0.27790	-0.320000	0.08028	-0.515000	0.06479	-0.261000	0.10672	ACG		0.597	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1		NM_152459		14	69	0	0	0	0.11911	0	14	69		
UMOD	7369	broad.mit.edu	37	16	20352631	20352631	+	Silent	SNP	G	G	A	rs144461487		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:20352631G>A	ENST00000570689.1	-	7	1505	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396134.2_Silent_p.T486T|UMOD_ENST00000424589.1_Silent_p.T486T|UMOD_ENST00000396138.4_Silent_p.T502T|UMOD_ENST00000396142.2_Silent_p.T453T|UMOD_ENST00000302509.4_Silent_p.T453T			P07911	UROM_HUMAN	uromodulin	453	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.T453T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGAACATGCCGGTCCCGCCCA	0.587																																						uc002dgz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1357-1359)ACC>ACT		uromodulin precursor		G	,	1,4405	2.1+/-5.4	0,1,2202	73.0	63.0	67.0		1359,1359	-10.7	0.3	16	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	UMOD	NM_001008389.1,NM_003361.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	453/641,453/641	20352631	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352631G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1359C>T	16.37:g.20352631G>A						UMOD_uc002dha.2_Silent_p.T453T|UMOD_uc002dhb.2_Silent_p.T486T	p.T453T	NM_003361	NP_003352	P07911	UROM_HUMAN			7	1488	-			453			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1359C>T	CCDS10583.1																																																																																				0.587	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1				17	79	0	0	0	0.043863	0	17	79		
CDH8	1006	broad.mit.edu	37	16	61891104	61891104	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:61891104C>A	ENST00000577390.1	-	4	1540	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	CDH8_ENST00000299345.6_Missense_Mutation_p.D196Y|CDH8_ENST00000577730.1_Missense_Mutation_p.D196Y|CDH8_ENST00000584337.1_Missense_Mutation_p.D196Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.D196Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAACTGGGTCATCAGCGTCG	0.388																																						uc002eog.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|skin(2)|breast(1)	9						c.(586-588)GAC>TAC		cadherin 8, type 2 preproprotein							90.0	79.0	83.0					16																	61891104		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61891104C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.586G>T	16.37:g.61891104C>A	ENSP00000462701:p.Asp196Tyr					CDH8_uc002eoh.2_5'UTR	p.D196Y	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	4	838	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	196			Extracellular (Potential).|Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.586G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772527	0.69992	.	.	ENSG00000150394	ENST00000299345	T	0.59502	0.26	5.75	5.75	0.90469	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81442	0.4823	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84155	0.0425	10	0.87932	D	0	.	19.9535	0.97211	0.0:1.0:0.0:0.0	.	196	P55286	CADH8_HUMAN	Y	196	ENSP00000299345:D196Y	ENSP00000299345:D196Y	D	-	1	0	CDH8	60448605	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	7.359000	0.79477	2.710000	0.92621	0.557000	0.71058	GAC		0.388	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796		14	55	1	0	7.93312e-07	0.11911	8.31876e-07	14	55		
SF3B3	23450	broad.mit.edu	37	16	70575582	70575582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:70575582C>T	ENST00000302516.5	+	9	1289	c.1078C>T	c.(1078-1080)Caa>Taa	p.Q360*		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	360					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.Q360*(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTACTTATATCAAATTGCACA	0.413																																						uc002ezf.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1078-1080)CAA>TAA		splicing factor 3b, subunit 3							150.0	152.0	152.0					16																	70575582		2198	4300	6498	SO:0001587	stop_gained	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70575582C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1078C>T	16.37:g.70575582C>T	ENSP00000305790:p.Gln360*						p.Q360*	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			9	1289	+		Ovarian(137;0.0694)	360					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Nonsense_Mutation	SNP	ENST00000302516.5	37	c.1078C>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	41	8.716770	0.98927	.	.	ENSG00000189091	ENST00000302516	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-6.9094	19.6425	0.95763	0.0:1.0:0.0:0.0	.	.	.	.	X	360	.	ENSP00000305790:Q360X	Q	+	1	0	SF3B3	69133083	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.726000	0.84824	2.713000	0.92767	0.655000	0.94253	CAA		0.413	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426		36	214	0	0	0	0.104719	0	36	214		
HYDIN	54768	broad.mit.edu	37	16	70884498	70884498	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr16:70884498G>A	ENST00000393567.2	-	74	12654	c.12504C>T	c.(12502-12504)atC>atT	p.I4168I	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4168					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I4167I(1)|p.I4119I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCACATTGCAGATCAAATTAA	0.448																																						uc002ezr.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(12499-12501)ATC>ATT		hydrocephalus inducing isoform a							61.0	54.0	56.0					16																	70884498		1849	4096	5945	SO:0001819	synonymous_variant	54768							g.chr16:70884498G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12504C>T	16.37:g.70884498G>A						HYDIN_uc010cfy.2_RNA	p.I4167I	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			74	12629	-		Ovarian(137;0.0654)	4168					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.12501C>T	CCDS59269.1																																																																																				0.448	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				10	65	0	0	0	0.069234	0	10	65		
ARHGEF15	22899	broad.mit.edu	37	17	8216353	8216353	+	Missense_Mutation	SNP	C	C	T	rs200249246		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:8216353C>T	ENST00000361926.3	+	3	825	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R239C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	239					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R239C(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGGGTCCCCCGTCGGGCCTC	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		12765	0.001		0.0	False		,,,				2504	0.0					uc002glc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(715-717)CGT>TGT		Rho guanine exchange factor 15							47.0	58.0	54.0					17																	8216353		2203	4295	6498	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216353C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.715C>T	17.37:g.8216353C>T	ENSP00000355026:p.Arg239Cys					ARHGEF15_uc002glb.1_3'UTR|ARHGEF15_uc002gld.2_Missense_Mutation_p.R239C|ARHGEF15_uc010vuw.1_Intron	p.R239C	NM_173728	NP_776089	O94989	ARHGF_HUMAN			3	836	+			239					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.715C>T	CCDS11139.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.961	0.178488	0.09443	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.40476	1.03;1.03	4.05	1.82	0.25136	.	0.552963	0.18083	N	0.152253	T	0.13670	0.0331	N	0.01576	-0.805	0.31170	N	0.703266	B	0.02656	0.0	B	0.01281	0.0	T	0.07927	-1.0747	10	0.38643	T	0.18	-11.9837	3.0629	0.06205	0.2093:0.1176:0.0:0.6731	.	239	O94989	ARHGF_HUMAN	C	239	ENSP00000355026:R239C;ENSP00000412505:R239C	ENSP00000355026:R239C	R	+	1	0	ARHGEF15	8157078	0.607000	0.26958	0.915000	0.36163	0.062000	0.15995	0.498000	0.22530	0.365000	0.24400	-0.367000	0.07326	CGT		0.706	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2		NM_173728		10	170	0	0	0	0.058154	0	10	170		
MYH2	4620	broad.mit.edu	37	17	10448678	10448678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:10448678G>A	ENST00000245503.5	-	5	874	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q164*|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Nonsense_Mutation_p.Q164*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	164	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)	p.Q164*(1)		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						AGCATGAACTGATAGGCGTTG	0.532																																						uc010coi.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(490-492)CAG>TAG		myosin heavy chain IIa							201.0	203.0	202.0					17																	10448678		2203	4300	6503	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10448678G>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.490C>T	17.37:g.10448678G>A	ENSP00000245503:p.Gln164*					uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.Q164*|MYH2_uc010coj.2_Nonsense_Mutation_p.Q164*	p.Q164*	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			5	618	-			164			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.490C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864871	0.91511	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805	.	.	.	5.71	5.71	0.89125	.	0.000000	0.37483	U	0.002063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.8439	0.92196	0.0:0.0:1.0:0.0	.	.	.	.	X	164	.	ENSP00000245503:Q164X	Q	-	1	0	MYH2	10389403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.859000	0.99545	2.706000	0.92434	0.650000	0.86243	CAG		0.532	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534		43	283	0	0	0	0.139131	0	43	283		
MPRIP	23164	broad.mit.edu	37	17	17080692	17080692	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:17080692G>A	ENST00000341712.4	+	21	2925	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	RN7SL775P_ENST00000498361.2_RNA|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Silent_p.E975E|MPRIP_ENST00000395811.5_Silent_p.E975E|MPRIP_ENST00000444976.1_Silent_p.E937E			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	975						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.E975E(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACTGGGGGAGAAGTCCCCTG	0.577																																						uc002gqu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2923-2925)GAG>GAA		myosin phosphatase-Rho interacting protein							84.0	73.0	77.0					17																	17080692		2203	4300	6503	SO:0001819	synonymous_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17080692G>A	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2925G>A	17.37:g.17080692G>A						MPRIP_uc002gqv.1_Silent_p.E975E|MPRIP_uc002gqw.1_Silent_p.E730E|MPRIP_uc002gqx.1_Silent_p.E1204E|MPRIP_uc002gqy.1_Silent_p.E1204E|MPRIP_uc010cpl.1_Silent_p.E161E|MPRIP_uc010cpm.1_Silent_p.E161E	p.E975E	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			21	2981	+			975			Potential.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	c.2925G>A	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.036|1.036	-0.680265|-0.680265	0.03353|0.03353	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000313485|ENST00000414263	.|.	.|.	.|.	5.26|5.26	-10.5|-10.5	0.00291|0.00291	.|.	0.175106|.	0.48767|.	D|.	0.000165|.	T|T	0.50120|0.50120	0.1597|0.1597	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64063|0.64063	-0.6495|-0.6495	6|4	0.59425|.	D|.	0.04|.	-9.7846|-9.7846	11.8012|11.8012	0.52128|0.52128	0.2333:0.2239:0.5427:0.0|0.2333:0.2239:0.5427:0.0	.|.	.|.	.|.	.|.	K|K	1340|1041	.|.	ENSP00000317786:E1340K|.	E|R	+|+	1|2	0|0	MPRIP|MPRIP	17021417|17021417	0.774000|0.774000	0.28592|0.28592	0.066000|0.066000	0.19879|0.19879	0.294000|0.294000	0.27393|0.27393	-0.071000|-0.071000	0.11505|0.11505	-2.463000|-2.463000	0.00535|0.00535	-1.881000|-1.881000	0.00545|0.00545	GAA|AGA		0.577	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1		NM_015134		6	90	0	0	0	0.021553	0	6	90		
MPRIP	23164	broad.mit.edu	37	17	17080713	17080713	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:17080713G>A	ENST00000341712.4	+	21	2946	c.2946G>A	c.(2944-2946)acG>acA	p.T982T	RN7SL775P_ENST00000498361.2_RNA|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Silent_p.T982T|MPRIP_ENST00000395811.5_Silent_p.T982T|MPRIP_ENST00000444976.1_Silent_p.T944T			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	982						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.T982T(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACAGTGCCACGGTGTCCGGAT	0.587																																						uc002gqu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2944-2946)ACG>ACA		myosin phosphatase-Rho interacting protein							74.0	65.0	68.0					17																	17080713		2203	4300	6503	SO:0001819	synonymous_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17080713G>A	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2946G>A	17.37:g.17080713G>A						MPRIP_uc002gqv.1_Silent_p.T982T|MPRIP_uc002gqw.1_Silent_p.T737T|MPRIP_uc002gqx.1_Silent_p.T1211T|MPRIP_uc002gqy.1_Silent_p.T1211T|MPRIP_uc010cpl.1_Silent_p.T168T|MPRIP_uc010cpm.1_Silent_p.T168T	p.T982T	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			21	3002	+			982					Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	c.2946G>A	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.030|0.030	-1.342599|-1.342599	0.01277|0.01277	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000313485|ENST00000414263	.|.	.|.	.|.	5.13|5.13	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.33147|0.33147	0.0853|0.0853	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999992|0.999992	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46952|0.46952	-0.9154|-0.9154	4|4	.|.	.|.	.|.	-0.7893|-0.7893	2.2666|2.2666	0.04080|0.04080	0.2239:0.276:0.3395:0.1607|0.2239:0.276:0.3395:0.1607	.|.	.|.	.|.	.|.	S|Q	1347|1048	.|.	.|.	G|R	+|+	1|2	0|0	MPRIP|MPRIP	17021438|17021438	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.047000|0.047000	0.14425|0.14425	-2.542000|-2.542000	0.00935|0.00935	-3.532000|-3.532000	0.00145|0.00145	-2.138000|-2.138000	0.00339|0.00339	GGT|CGG		0.587	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1		NM_015134		6	72	0	0	0	0.021553	0	6	72		
ACE	1636	broad.mit.edu	37	17	61568636	61568636	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:61568636G>A	ENST00000290866.4	+	19	2830	c.2806G>A	c.(2806-2808)Gtg>Atg	p.V936M	ACE_ENST00000577647.1_Missense_Mutation_p.V362M|ACE_ENST00000413513.3_Missense_Mutation_p.V362M|ACE_ENST00000428043.1_Missense_Mutation_p.V936M|ACE_ENST00000421982.2_Missense_Mutation_p.V182M|ACE_ENST00000290863.6_Missense_Mutation_p.V362M|ACE_ENST00000490216.2_Missense_Mutation_p.V362M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	936	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.V362M(1)|p.V936M(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTGCTGCCCGTGCCTCCTGA	0.617																																						uc002jau.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2806-2808)GTG>ATG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						63.0	64.0	64.0					17																	61568636		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61568636G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2806G>A	17.37:g.61568636G>A	ENSP00000290866:p.Val936Met					ACE_uc002jav.1_Missense_Mutation_p.V362M|ACE_uc010ddv.1_Missense_Mutation_p.V163M|ACE_uc010wpj.1_Missense_Mutation_p.V362M|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.V182M	p.V936M	NM_000789	NP_000780	P12821	ACE_HUMAN			19	2828	+			936			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2806G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261482	0.39995	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.39	1.06	0.20224	.	0.092460	0.64402	N	0.000001	T	0.06645	0.0170	N	0.00608	-1.33	0.35138	D	0.768592	B;B;B;B	0.22604	0.006;0.024;0.072;0.042	B;B;B;B	0.21708	0.007;0.005;0.003;0.036	T	0.31916	-0.9926	10	0.02654	T	1	-28.7455	0.3248	0.00309	0.3204:0.1902:0.2961:0.1933	.	182;362;362;936	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	M	936;936;362;362;182	ENSP00000290866:V936M;ENSP00000397593:V936M;ENSP00000290863:V362M;ENSP00000392247:V362M;ENSP00000387760:V182M	ENSP00000290863:V362M	V	+	1	0	ACE	58922368	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	3.803000	0.55560	1.257000	0.44085	0.561000	0.74099	GTG		0.617	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2				13	101	0	0	0	0.09319	0	13	101		
CCDC40	55036	broad.mit.edu	37	17	78022498	78022498	+	Missense_Mutation	SNP	G	G	A	rs377613873		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:78022498G>A	ENST00000397545.4	+	5	820	c.793G>A	c.(793-795)Gag>Aag	p.E265K	CCDC40_ENST00000269318.5_Missense_Mutation_p.E265K|CCDC40_ENST00000374877.3_Missense_Mutation_p.E265K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E265K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	265					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.E265K(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTGGAGTCCGAGGGGAGTGA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17382	0.0		0.0	False		,,,				2504	0.001					uc010dht.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)	3						c.(793-795)GAG>AAG		coiled-coil domain containing 40		G	LYS/GLU	0,4096		0,0,2048	82.0	106.0	98.0		793	3.6	0.0	17		98	1,8357		0,1,4178	no	missense	CCDC40	NM_017950.3	56	0,1,6226	AA,AG,GG		0.012,0.0,0.0080	probably-damaging	265/1143	78022498	1,12453	2048	4179	6227	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78022498G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.793G>A	17.37:g.78022498G>A	ENSP00000380679:p.Glu265Lys					CCDC40_uc010wub.1_Missense_Mutation_p.E265K|CCDC40_uc002jxm.3_Missense_Mutation_p.E48K	p.E265K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		5	820	+	all_neural(118;0.167)		265					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.793G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387213	0.61956	0.0	1.2E-4	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84873	0.37;-1.91;0.39;0.38	4.6	3.6	0.41247	.	.	.	.	.	D	0.90885	0.7136	M	0.72894	2.215	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.998	P;D;P	0.73380	0.849;0.98;0.676	T	0.82645	-0.0355	9	0.72032	D	0.01	-29.2182	12.184	0.54227	0.0:0.1741:0.8259:0.0	.	265;265;48	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	K	265	ENSP00000364011:E265K;ENSP00000269318:E265K;ENSP00000364010:E265K;ENSP00000380679:E265K	ENSP00000269318:E265K	E	+	1	0	CCDC40	75637093	0.982000	0.34865	0.022000	0.16811	0.073000	0.16967	2.797000	0.47877	0.874000	0.35823	0.591000	0.81541	GAG		0.612	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082		8	52	0	0	0	0.038147	0	8	52		
RPTOR	57521	broad.mit.edu	37	17	78704398	78704398	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:78704398G>A	ENST00000306801.3	+	5	908	c.546G>A	c.(544-546)ctG>ctA	p.L182L	RPTOR_ENST00000570891.1_Silent_p.L182L|RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Silent_p.L182L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	182					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L182L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TATATGACCTGCAGACGTGGA	0.532																																						uc002jyt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|urinary_tract(1)|ovary(1)	6						c.(544-546)CTG>CTA		raptor isoform 1							150.0	105.0	120.0					17																	78704398		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78704398G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.546G>A	17.37:g.78704398G>A						RPTOR_uc002jys.2_Silent_p.L182L|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Silent_p.L182L	p.L182L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			5	1351	+			182					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.546G>A	CCDS11773.1																																																																																				0.532	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1		NM_020761		13	94	0	0	0	0.11911	0	13	94		
C18orf8	29919	broad.mit.edu	37	18	21110070	21110070	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr18:21110070C>T	ENST00000269221.3	+	17	1683	c.1573C>T	c.(1573-1575)Cac>Tac	p.H525Y	C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Missense_Mutation_p.H477Y	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	525	Mic1.					lysosomal membrane (GO:0005765)		p.H525Y(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTGCAGTACCACGTCCTCAG	0.393																																						uc010xax.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1573-1575)CAC>TAC		colon cancer-associated protein Mic1							242.0	247.0	245.0					18																	21110070		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21110070C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1573C>T	18.37:g.21110070C>T	ENSP00000269221:p.His525Tyr					C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.H149Y|NPC1_uc010dlu.1_Intron	p.H525Y	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN			18	1694	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		525			Mic1.		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.1573C>T	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694167	0.88735	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.24	5.24	0.73138	Colon cancer-associated Mic1-like (1);	0.000000	0.85682	D	0.000000	T	0.76564	0.4005	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.983;1.0	P;D	0.87578	0.872;0.998	T	0.71220	-0.4657	9	0.14656	T	0.56	-18.2636	18.8306	0.92137	0.0:1.0:0.0:0.0	.	368;525	B7Z2Y1;Q96DM3	.;MIC1_HUMAN	Y	525;368;477;368	.	ENSP00000269221:H525Y	H	+	1	0	C18orf8	19364068	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.378000	0.79679	2.439000	0.82584	0.655000	0.94253	CAC		0.393	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1		NM_013326		46	421	0	0	0	0.139131	0	46	421		
HRH4	59340	broad.mit.edu	37	18	22048844	22048844	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr18:22048844C>G	ENST00000256906.4	+	2	386	c.286C>G	c.(286-288)Ctg>Gtg	p.L96V	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	96					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.L96V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TACTGACTATCTGTTATGTAC	0.408																																						uc002kvi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(286-288)CTG>GTG		histamine H4 receptor isoform 1	Clozapine(DB00363)						209.0	170.0	183.0					18																	22048844		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22048844C>G	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.286C>G	18.37:g.22048844C>G	ENSP00000256906:p.Leu96Val					HRH4_uc010xbd.1_Intron|HRH4_uc010dlx.2_Intron	p.L96V	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			2	386	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		96			Helical; Name=3; (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.286C>G	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266185	0.59540	.	.	ENSG00000134489	ENST00000256906	T	0.71461	-0.57	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.229417	0.36268	N	0.002692	T	0.79131	0.4394	L	0.54908	1.71	0.80722	D	1	D	0.60575	0.988	D	0.65323	0.934	T	0.78450	-0.2199	10	0.46703	T	0.11	-23.792	13.9206	0.63928	0.0:0.925:0.0:0.075	.	96	Q9H3N8	HRH4_HUMAN	V	96	ENSP00000256906:L96V	ENSP00000256906:L96V	L	+	1	2	HRH4	20302842	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	3.316000	0.51960	2.641000	0.89580	0.655000	0.94253	CTG		0.408	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1				20	71	0	0	0	0.049695	0	20	71		
ZNF521	25925	broad.mit.edu	37	18	22805418	22805418	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr18:22805418T>C	ENST00000361524.3	-	4	2612	c.2464A>G	c.(2464-2466)Att>Gtt	p.I822V	ZNF521_ENST00000584787.1_Missense_Mutation_p.I602V|ZNF521_ENST00000538137.2_Missense_Mutation_p.I822V|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	822					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.I822V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTAACAAAATGATCGCATGG	0.468			T	PAX5	ALL																																	uc002kvk.2		NaN		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(2464-2466)ATT>GTT		zinc finger protein 521							161.0	155.0	157.0					18																	22805418		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805418T>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2464A>G	18.37:g.22805418T>C	ENSP00000354794:p.Ile822Val					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.I822V|ZNF521_uc002kvl.2_Missense_Mutation_p.I602V	p.I822V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2711	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		822			C2H2-type 20.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2464A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	1.290	-0.607995	0.03717	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.27557	1.66;1.66	5.93	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.237697	0.43260	D	0.000586	T	0.16769	0.0403	N	0.04705	-0.18	0.26857	N	0.968041	B	0.11235	0.004	B	0.13407	0.009	T	0.13176	-1.0519	10	0.32370	T	0.25	-20.7209	13.5025	0.61465	0.0:0.0:0.13:0.87	.	822	Q96K83	ZN521_HUMAN	V	822;856;822	ENSP00000354794:I822V;ENSP00000382352:I822V	ENSP00000354794:I822V	I	-	1	0	ZNF521	21059416	1.000000	0.71417	0.901000	0.35422	0.224000	0.24922	3.787000	0.55439	1.044000	0.40200	0.533000	0.62120	ATT		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		NM_015461		18	200	0	0	0	0.175082	0	18	200		
PALM	5064	broad.mit.edu	37	19	746578	746578	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:746578G>A	ENST00000338448.5	+	9	974	c.928G>A	c.(928-930)Gat>Aat	p.D310N	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.D266N	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	310					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D310N(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GAACGTGGAGGATGAGGCCGA	0.657																																						uc002lpm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(928-930)GAT>AAT		paralemmin isoform 1							45.0	38.0	40.0					19																	746578		2203	4300	6503	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746578G>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.928G>A	19.37:g.746578G>A	ENSP00000341911:p.Asp310Asn					PALM_uc002lpn.1_Missense_Mutation_p.D266N|PALM_uc010xfu.1_Missense_Mutation_p.D175N	p.D310N	NM_002579	NP_002570	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	9	1122	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	310					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.928G>A	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949037	0.92660	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.35789	1.29;1.29	4.92	4.92	0.64577	.	0.052462	0.64402	D	0.000001	T	0.64427	0.2597	M	0.82630	2.6	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70861	-0.4757	10	0.72032	D	0.01	-31.2393	17.0946	0.86631	0.0:0.0:1.0:0.0	.	266;310	O75781-2;O75781	.;PALM_HUMAN	N	310;266;175	ENSP00000341911:D310N;ENSP00000264560:D266N	ENSP00000264560:D266N	D	+	1	0	PALM	697578	1.000000	0.71417	0.985000	0.45067	0.556000	0.35491	9.334000	0.96470	2.268000	0.75426	0.462000	0.41574	GAT		0.657	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1		NM_002579		9	40	0	0	0	0.080935	0	9	40		
SYCE2	256126	broad.mit.edu	37	19	13029049	13029049	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:13029049C>T	ENST00000293695.7	-	2	136	c.118G>A	c.(118-120)Gga>Aga	p.G40R	MIR5695_ENST00000579717.1_RNA	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	40					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.G40R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GCTGGCCCTCCACCAGCTTCC	0.597																																						uc002mvr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(118-120)GGA>AGA		synaptonemal complex central element protein 2							73.0	80.0	78.0					19																	13029049		2127	4226	6353	SO:0001583	missense	256126				cell division	central element		g.chr19:13029049C>T	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.118G>A	19.37:g.13029049C>T	ENSP00000293695:p.Gly40Arg						p.G40R	NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN			2	133	-			40					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.118G>A	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	1.127	-0.653516	0.03480	.	.	ENSG00000161860	ENST00000293695	.	.	.	3.46	-6.91	0.01649	.	1.732920	0.03472	N	0.213855	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.10405	-1.0631	9	0.33940	T	0.23	-0.2195	2.3117	0.04188	0.2226:0.3422:0.3216:0.1136	.	40	Q6PIF2	SYCE2_HUMAN	R	40	.	ENSP00000293695:G40R	G	-	1	0	SYCE2	12890049	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-0.955000	0.03869	-1.089000	0.03073	0.561000	0.74099	GGA		0.597	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1		XM_497609		11	69	0	0	0	0.09319	0	11	69		
KMT2B	9757	broad.mit.edu	37	19	36211795	36211795	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:36211795A>G	ENST00000222270.7	+	3	1546	c.1546A>G	c.(1546-1548)Aaa>Gaa	p.K516E	KMT2B_ENST00000420124.1_Missense_Mutation_p.K516E|KMT2B_ENST00000341701.1_Missense_Mutation_p.K516E|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	516	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K516Q(1)|p.K516E(1)									CGTGGCCCCCAAAAGCACCAC	0.622																																						uc010eei.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|endometrium(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(1546-1548)AAA>GAA		myeloid/lymphoid or mixed-lineage leukemia 4							16.0	20.0	19.0					19																	36211795		1963	4147	6110	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36211795A>G	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1546A>G	19.37:g.36211795A>G	ENSP00000222270:p.Lys516Glu						p.K516E	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	1546	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		516			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.1546A>G	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.379448	0.42207	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.84589	-1.87;-1.87;0.6	4.49	4.49	0.54785	.	0.000000	0.42821	D	0.000643	T	0.79179	0.4402	N	0.14661	0.345	0.27088	N	0.96293	D	0.53885	0.963	P	0.53006	0.715	T	0.70439	-0.4871	10	0.22706	T	0.39	.	11.4062	0.49900	1.0:0.0:0.0:0.0	.	516	Q9UMN6	MLL4_HUMAN	E	516	ENSP00000222270:K516E;ENSP00000398837:K516E;ENSP00000345761:K516E	ENSP00000222270:K516E	K	+	1	0	AD000671.1	40903635	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.557000	0.45871	1.888000	0.54679	0.374000	0.22700	AAA		0.622	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		5	16	0	0	0	0.014758	0	5	16		
SAMD4B	55095	broad.mit.edu	37	19	39876761	39876761	+	IGR	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:39876761C>G	ENST00000314471.6	+	0	4519				PAF1_ENST00000595564.1_Missense_Mutation_p.V418L|PAF1_ENST00000221266.7_Missense_Mutation_p.V395L|PAF1_ENST00000221265.3_Missense_Mutation_p.G489A	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G489A(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCGCTGGCCACCCCCATTGCT	0.617																																						uc002old.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1465-1467)GGT>GCT		Paf1, RNA polymerase II associated factor,							91.0	83.0	85.0					19																	39876761		2203	4300	6503	SO:0001628	intergenic_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39876761C>G		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39876761C>G						PAF1_uc002ole.1_Missense_Mutation_p.V418L	p.G489A	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		14	1641	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		489					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1466G>C	CCDS33020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.332|9.332	1.060894|1.060894	0.19987|0.19987	.|.	.|.	ENSG00000006712|ENSG00000006712	ENST00000221265|ENST00000221266	.|.	.|.	.|.	4.81|4.81	3.75|3.75	0.43078|0.43078	.|.	0.201797|.	0.39985|.	N|.	0.001218|.	T|T	0.30198|0.30198	0.0757|0.0757	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|B	0.19200|0.09022	0.034|0.002	B|B	0.14578|0.08055	0.011|0.003	T|T	0.21348|0.21348	-1.0248|-1.0248	9|8	0.13108|0.87932	T|D	0.6|0	-22.9263|-22.9263	7.5952|7.5952	0.28044|0.28044	0.0:0.811:0.0:0.189|0.0:0.811:0.0:0.189	.|.	489|395	Q8N7H5|F8W9Q2	PAF1_HUMAN|.	A|L	489|395	.|.	ENSP00000221265:G489A|ENSP00000221266:V395L	G|V	-|-	2|1	0|0	PAF1|PAF1	44568601|44568601	0.160000|0.160000	0.22878|0.22878	0.991000|0.991000	0.47740|0.47740	0.305000|0.305000	0.27757|0.27757	0.979000|0.979000	0.29500|0.29500	2.520000|2.520000	0.84964|0.84964	0.503000|0.503000	0.49774|0.49774	GGT|GTG		0.617	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028		7	85	0	0	0	0.09319	0	7	85		
KLK1	3816	broad.mit.edu	37	19	51323464	51323464	+	Missense_Mutation	SNP	C	C	G	rs372142347		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr19:51323464C>G	ENST00000301420.2	-	3	477	c.442G>C	c.(442-444)Gaa>Caa	p.E148Q	KLK1_ENST00000448701.2_Missense_Mutation_p.E46Q|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	148	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.E148Q(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	CTCCCCACTTCGGGTTCCTCG	0.607																																						uc002ptk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(442-444)GAA>CAA		kallikrein 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						82.0	77.0	79.0					19																	51323464		2203	4300	6503	SO:0001583	missense	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51323464C>G	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.442G>C	19.37:g.51323464C>G	ENSP00000301420:p.Glu148Gln					KLK1_uc010ycg.1_RNA	p.E148Q	NM_002257	NP_002248	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	3	481	-		all_neural(266;0.0199)	148			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	c.442G>C	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	c	2.669	-0.278056	0.05679	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.88431	-2.38;-2.38	2.79	-5.58	0.02512	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.72431	0.3459	N	0.10685	0.025	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.57780	-0.7752	9	0.30854	T	0.27	.	7.1929	0.25837	0.0:0.4277:0.2867:0.2856	.	148	P06870	KLK1_HUMAN	Q	148;46	ENSP00000301420:E148Q;ENSP00000400994:E46Q	ENSP00000301420:E148Q	E	-	1	0	KLK1	56015276	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.284000	0.01154	-1.039000	0.03275	0.313000	0.20887	GAA		0.607	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2		NM_002257		14	106	0	0	0	0.083992	0	14	106		
SMYD1	150572	broad.mit.edu	37	2	88409880	88409880	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:88409880G>A	ENST00000419482.2	+	10	1407	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	SMYD1_ENST00000444564.2_Missense_Mutation_p.R428Q|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	441					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R441Q(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGGCCATGCGGGTGCAGACG	0.532																																						uc002ssr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(1321-1323)CGG>CAG		SET and MYND domain containing 1							74.0	58.0	63.0					2																	88409880		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88409880G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1322G>A	2.37:g.88409880G>A	ENSP00000393453:p.Arg441Gln					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.R137Q	p.R441Q	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			10	1324	+			441					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.1322G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763306	0.89932	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.23754	1.89;1.89	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	T	0.50180	-0.8858	10	0.62326	D	0.03	-26.8698	17.579	0.87960	0.0:0.0:1.0:0.0	.	441	Q8NB12	SMYD1_HUMAN	Q	441;428;262	ENSP00000393453:R441Q;ENSP00000407888:R428Q	ENSP00000295833:R262Q	R	+	2	0	SMYD1	88190995	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	9.476000	0.97823	2.399000	0.81585	0.655000	0.94253	CGG		0.532	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2		XM_097915		10	24	0	0	0	0.069234	0	10	24		
RND3	390	broad.mit.edu	37	2	151326590	151326590	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:151326590G>A	ENST00000375734.2	-	5	895	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	RND3_ENST00000263895.4_Missense_Mutation_p.R216W|RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Missense_Mutation_p.R87W	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	216					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R216W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGTGAAATCCGCTTTGTGGCT	0.438																																						uc002txe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)	2						c.(646-648)CGG>TGG		ras homolog gene family, member E precursor							183.0	169.0	174.0					2																	151326590		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151326590G>A		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.646C>T	2.37:g.151326590G>A	ENSP00000364886:p.Arg216Trp					RND3_uc002txf.2_Missense_Mutation_p.R215W|RND3_uc002txg.2_Missense_Mutation_p.R216W|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Missense_Mutation_p.R79W	p.R216W	NM_005168	NP_005159	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	5	890	-			216					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.646C>T	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415324	0.62511	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.69040	-0.37;-0.37;2.32	5.81	5.81	0.92471	.	0.133094	0.35151	N	0.003414	T	0.79341	0.4429	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.988;0.999;0.999	T	0.80462	-0.1372	10	0.87932	D	0	-5.476	13.9692	0.64228	0.0:0.0:0.8486:0.1513	.	79;215;216	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	W	216;216;87	ENSP00000364886:R216W;ENSP00000263895:R216W;ENSP00000386576:R87W	ENSP00000263895:R216W	R	-	1	2	RND3	151034836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.202000	0.51067	2.751000	0.94390	0.650000	0.86243	CGG		0.438	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1		NM_005168		8	150	0	0	0	0.038147	0	8	150		
SPC25	57405	broad.mit.edu	37	2	169732631	169732631	+	Silent	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:169732631A>G	ENST00000282074.2	-	5	543	c.402T>C	c.(400-402)tcT>tcC	p.S134S	SPC25_ENST00000472216.2_5'Flank	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	134	Interaction with the N-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.S134S(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						ACAAGTCTGCAGATTTCTGCA	0.284																																						uc002uel.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(400-402)TCT>TCC		spindle pole body component 25							25.0	27.0	26.0					2																	169732631		2194	4294	6488	SO:0001819	synonymous_variant	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr2:169732631A>G	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.402T>C	2.37:g.169732631A>G							p.S134S	NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN			5	533	-			134			Potential.|Interaction with the N-terminus of SPBC24.		A8K4X8|D3DPC0	Silent	SNP	ENST00000282074.2	37	c.402T>C	CCDS2229.1																																																																																				0.284	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2		NM_020675		3	40	0	0	0	0.115264	0	3	40		
RFTN2	130132	broad.mit.edu	37	2	198540158	198540158	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:198540158C>T	ENST00000295049.4	-	1	561	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	9					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.E9K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCAGGGTCTTCTAGCTTTCTA	0.423																																						uc002uuo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(25-27)GAA>AAA		raftlin family member 2							127.0	138.0	134.0					2																	198540158		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198540158C>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.25G>A	2.37:g.198540158C>T	ENSP00000295049:p.Glu9Lys						p.E9K	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			1	427	-			9					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.25G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376197	0.95945	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.37584	1.19;1.19	5.83	4.94	0.65067	.	0.103018	0.64402	D	0.000003	T	0.44456	0.1294	M	0.62723	1.935	0.58432	D	0.999993	P	0.49559	0.925	P	0.47162	0.54	T	0.49312	-0.8953	10	0.87932	D	0	-18.6118	14.472	0.67523	0.1472:0.8528:0.0:0.0	.	9	Q52LD8	RFTN2_HUMAN	K	9	ENSP00000295049:E9K;ENSP00000398128:E9K	ENSP00000295049:E9K	E	-	1	0	RFTN2	198248403	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.266000	0.58871	1.417000	0.47077	0.585000	0.79938	GAA		0.423	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2		NM_144629		74	189	0	0	0	0.139131	0	74	189		
FLRT3	23767	broad.mit.edu	37	20	14307451	14307451	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:14307451C>G	ENST00000378053.3	-	2	958	c.702G>C	c.(700-702)cgG>cgC	p.R234R	FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Silent_p.R234R|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	234					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.R234R(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCAGGGAATTCCGCACCAGGG	0.443																																						uc002wov.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(1)	1						c.(700-702)CGG>CGC		fibronectin leucine rich transmembrane protein 3							49.0	49.0	49.0					20																	14307451		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307451C>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.702G>C	20.37:g.14307451C>G						MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.R234R	p.R234R	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1169	-		Colorectal(1;0.0464)	234			Extracellular (Potential).|LRR 8.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.702G>C	CCDS13121.1																																																																																				0.443	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1		NM_013281		12	99	0	0	0	0.105934	0	12	99		
GINS1	9837	broad.mit.edu	37	20	25405846	25405846	+	Splice_Site	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:25405846G>A	ENST00000262460.4	+	5	424		c.e5-1		GINS1_ENST00000429262.2_Splice_Site	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)						DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TATGTTTGCAGATGGAGTGGT	0.363																																						uc002wuv.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.e5-1		GINS complex subunit 1							64.0	69.0	67.0					20																	25405846		2203	4298	6501	SO:0001630	splice_region_variant	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25405846G>A	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.331-1G>A	20.37:g.25405846G>A						GINS1_uc010zte.1_Splice_Site	p.M111_splice	NM_021067	NP_066545	Q14691	PSF1_HUMAN			5	465	+								Q9NQE2|Q9NQI7	Splice_Site	SNP	ENST00000262460.4	37	c.331_splice	CCDS33451.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971333	0.74246	.	.	ENSG00000101003	ENST00000262460;ENST00000429262	.	.	.	5.93	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0404	0.64672	0.0734:0.0:0.9266:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GINS1	25353846	1.000000	0.71417	0.975000	0.42487	0.942000	0.58702	6.730000	0.74780	1.521000	0.48983	-0.136000	0.14681	.		0.363	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1		NM_021067	Intron	24	89	0	0	0	0.083992	0	24	89		
ZNF337	26152	broad.mit.edu	37	20	25666702	25666702	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:25666702C>T	ENST00000376436.1	-	2	623	c.84G>A	c.(82-84)ctG>ctA	p.L28L	ZNF337_ENST00000252979.5_Silent_p.L28L|ZNF337_ENST00000538750.1_Silent_p.L28L|ZNF337_ENST00000481610.1_5'UTR			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L28L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGGCTCAGCAGCCTCCATT	0.547																																						uc002wva.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(82-84)CTG>CTA		zinc finger protein 337							114.0	113.0	113.0					20																	25666702		2203	4300	6503	SO:0001819	synonymous_variant	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25666702C>T		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.84G>A	20.37:g.25666702C>T						ZNF337_uc010ztg.1_Silent_p.L28L|ZNF337_uc002wvb.2_Silent_p.L28L|ZNF337_uc002wvc.2_Silent_p.L28L	p.L28L	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			2	606	-			28			KRAB.		B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.84G>A	CCDS13174.1																																																																																				0.547	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1				40	268	0	0	0	0.131918	0	40	268		
BPIFB2	80341	broad.mit.edu	37	20	31606901	31606901	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:31606901C>G	ENST00000170150.3	+	10	1084	c.889C>G	c.(889-891)Ctg>Gtg	p.L297V		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	297						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.L297V(1)									CACCTCTGCTCTGGGCCGGCT	0.567																																						uc002wyj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(889-891)CTG>GTG		bactericidal/permeability-increasing							132.0	131.0	132.0					20																	31606901		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31606901C>G	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.889C>G	20.37:g.31606901C>G	ENSP00000170150:p.Leu297Val						p.L297V	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			10	1083	+			297					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.889C>G	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599168	0.28534	.	.	ENSG00000078898	ENST00000170150	T	0.10099	2.91	4.43	3.49	0.39957	.	0.277746	0.22393	N	0.060645	T	0.28699	0.0711	M	0.83953	2.67	0.30956	N	0.724135	D	0.56746	0.977	P	0.60609	0.877	T	0.24512	-1.0158	10	0.59425	D	0.04	-11.7776	8.7327	0.34510	0.0:0.8949:0.0:0.1051	.	297	Q8N4F0	BPIB2_HUMAN	V	297	ENSP00000170150:L297V	ENSP00000170150:L297V	L	+	1	2	BPIFB2	31070562	0.618000	0.27051	0.830000	0.32933	0.051000	0.14879	0.786000	0.26844	1.204000	0.43247	0.555000	0.69702	CTG		0.567	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2		NM_025227		27	203	0	0	0	0.134883	0	27	203		
SEMG1	6406	broad.mit.edu	37	20	43836572	43836572	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:43836572A>G	ENST00000372781.3	+	2	691	c.634A>G	c.(634-636)Aat>Gat	p.N212D	SEMG1_ENST00000244069.6_Missense_Mutation_p.N212D	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	212	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.N212D(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGAGACTAAAAATTCTCATCA	0.408																																						uc002xni.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(634-636)AAT>GAT		semenogelin I preproprotein							85.0	76.0	79.0					20																	43836572		2203	4300	6503	SO:0001583	missense	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836572A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.634A>G	20.37:g.43836572A>G	ENSP00000361867:p.Asn212Asp					SEMG1_uc002xnj.2_Missense_Mutation_p.N212D|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.N212D	p.N212D	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	691	+		Myeloproliferative disorder(115;0.0122)	212			42 AA repeat 1.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.634A>G	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535922	0.27475	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.11930	2.73;2.73	1.24	-0.0213	0.13952	.	.	.	.	.	T	0.30603	0.0770	M	0.76838	2.35	0.09310	N	1	D;D;D	0.76494	0.998;0.961;0.999	D;P;D	0.83275	0.991;0.579;0.996	T	0.11324	-1.0592	9	0.72032	D	0.01	.	3.1922	0.06621	0.6202:0.0:0.0:0.3798	.	212;212;212	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	D	212	ENSP00000244069:N212D;ENSP00000361867:N212D	ENSP00000244069:N212D	N	+	1	0	SEMG1	43269986	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	1.316000	0.33620	-0.041000	0.13558	-0.503000	0.04515	AAT		0.408	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3		NM_003007		12	137	0	0	0	0.09319	0	12	137		
CDH22	64405	broad.mit.edu	37	20	44879792	44879792	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr20:44879792C>T	ENST00000372262.3	-	1	542	c.142G>A	c.(142-144)Gga>Aga	p.G48R	CDH22_ENST00000537909.1_Missense_Mutation_p.G48R	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	48					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G48R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGCCGAGCTCCGGGCGCCGAC	0.746																																						uc002xrm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(142-144)GGA>AGA		cadherin 22 precursor							12.0	13.0	13.0					20																	44879792		2170	4210	6380	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44879792C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.142G>A	20.37:g.44879792C>T	ENSP00000361336:p.Gly48Arg					CDH22_uc010ghk.1_Missense_Mutation_p.G48R	p.G48R	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			1	543	-		Myeloproliferative disorder(115;0.0122)	48			Extracellular (Potential).		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.142G>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	c	7.713	0.695485	0.15106	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.57107	0.42;0.42	3.16	2.19	0.27852	.	1.200290	0.06453	U	0.728070	T	0.28001	0.0690	N	0.08118	0	0.18873	N	0.999981	B	0.13594	0.008	B	0.04013	0.001	T	0.23762	-1.0179	10	0.12430	T	0.62	.	4.095	0.09986	0.2467:0.6213:0.0:0.132	.	48	Q9UJ99	CAD22_HUMAN	R	48	ENSP00000361336:G48R;ENSP00000437790:G48R	ENSP00000361336:G48R	G	-	1	0	CDH22	44313199	0.000000	0.05858	0.067000	0.19924	0.662000	0.39071	0.415000	0.21181	0.515000	0.28320	0.187000	0.17357	GGA		0.746	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1		NM_021248		14	15	0	0	0	0.049695	0	14	15		
PDXK	8566	broad.mit.edu	37	21	45173597	45173597	+	Silent	SNP	C	C	T	rs138572525		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr21:45173597C>T	ENST00000291565.4	+	9	939	c.756C>T	c.(754-756)ctC>ctT	p.L252L	PDXK_ENST00000467908.1_Silent_p.L212L|PDXK_ENST00000468090.1_Silent_p.L224L	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	252					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)	p.L252L(2)		endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CCAATAACCTCAAGGTCAGCC	0.622																																						uc002zdm.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(754-756)CTC>CTT		pyridoxal kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)	C		0,4406		0,0,2203	199.0	161.0	174.0		756	3.0	1.0	21	dbSNP_134	174	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	PDXK	NM_003681.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		252/313	45173597	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45173597C>T	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.756C>T	21.37:g.45173597C>T						PDXK_uc010gpj.2_Silent_p.L252L|PDXK_uc002zdn.3_Silent_p.L224L|PDXK_uc002zdq.3_Silent_p.L179L	p.L252L	NM_003681	NP_003672	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	9	954	+			252					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.756C>T	CCDS13699.1																																																																																				0.622	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1		NM_003681		14	116	0	0	0	0.105934	0	14	116		
LSS	4047	broad.mit.edu	37	21	47627356	47627356	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr21:47627356C>T	ENST00000397728.3	-	15	1531	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	LSS_ENST00000522411.1_Missense_Mutation_p.D474N|LSS_ENST00000457828.2_Missense_Mutation_p.D405N|LSS_ENST00000356396.4_Missense_Mutation_p.D485N	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	485					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.D485N(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GCCACAGCATCGCAGAGCCGT	0.612																																					Pancreas(114;955 2313 34923 50507)	uc002zij.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1453-1455)GAT>AAT		lanosterol synthase isoform 1							95.0	70.0	78.0					21																	47627356		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47627356C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1453G>A	21.37:g.47627356C>T	ENSP00000380837:p.Asp485Asn					LSS_uc011afv.1_Missense_Mutation_p.D474N|LSS_uc002zil.2_Missense_Mutation_p.D485N|LSS_uc002zik.2_Missense_Mutation_p.D405N	p.D485N	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			15	1532	-	Breast(49;0.214)		485			PFTB 2.		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.1453G>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175214	0.57692	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.04	3.2	0.36748	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.151492	0.64402	N	0.000017	T	0.41073	0.1143	M	0.81341	2.54	0.80722	D	1	B;B	0.26258	0.141;0.145	B;B	0.24701	0.055;0.025	T	0.42172	-0.9467	10	0.62326	D	0.03	.	11.8947	0.52650	0.0:0.8521:0.0:0.1479	.	474;485	E9PEI9;P48449	.;ERG7_HUMAN	N	485;405;485;474	ENSP00000348762:D485N;ENSP00000409191:D405N;ENSP00000380837:D485N;ENSP00000429133:D474N	ENSP00000348762:D485N	D	-	1	0	LSS	46451784	0.998000	0.40836	0.526000	0.27913	0.815000	0.46073	3.722000	0.54948	0.777000	0.33496	0.655000	0.94253	GAT		0.612	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2				10	17	0	0	0	0.058154	0	10	17		
C22orf29	79680	broad.mit.edu	37	22	19839452	19839452	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:19839452C>T	ENST00000405640.1	-	2	1001	c.333G>A	c.(331-333)ccG>ccA	p.P111P	C22orf29_ENST00000407472.1_Silent_p.P111P|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Silent_p.P111P|GNB1L_ENST00000403325.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	111					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)		p.P111P(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CCAGTAGCCACGGGGAGCCAT	0.607																																						uc002zqg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(331-333)CCG>CCA		hypothetical protein LOC79680							55.0	64.0	61.0					22																	19839452		2203	4300	6503	SO:0001819	synonymous_variant	79680							g.chr22:19839452C>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.333G>A	22.37:g.19839452C>T						GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.P111P|C22orf29_uc002zqi.2_Silent_p.P111P|C22orf29_uc010grt.1_Intron	p.P111P	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN			2	932	-	Colorectal(54;0.0993)		111					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Silent	SNP	ENST00000405640.1	37	c.333G>A	CCDS13769.1																																																																																				0.607	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2		NM_024627		18	133	0	0	0	0.055883	0	18	133		
ASPHD2	57168	broad.mit.edu	37	22	26839131	26839131	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:26839131G>A	ENST00000215906.5	+	4	1507	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	357					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.E331K(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGCAGCGGCCGAACGGCAGGC	0.607																																						uc003acg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1069-1071)GAA>AAA		aspartate beta-hydroxylase domain containing 2							147.0	151.0	149.0					22																	26839131		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26839131G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.1069G>A	22.37:g.26839131G>A	ENSP00000215906:p.Glu357Lys						p.E357K	NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN			4	1466	+			357			Lumenal (Potential).		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.1069G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932185	0.92389	.	.	ENSG00000128203	ENST00000215906	T	0.58506	0.33	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.83619	0.0138	10	0.87932	D	0	-19.1228	16.4613	0.84055	0.0:0.0:1.0:0.0	.	357	Q6ICH7	ASPH2_HUMAN	K	357	ENSP00000215906:E357K	ENSP00000215906:E357K	E	+	1	0	ASPHD2	25169131	1.000000	0.71417	0.969000	0.41365	0.609000	0.37215	8.872000	0.92352	2.342000	0.79632	0.561000	0.74099	GAA		0.607	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1		NM_020437		64	303	0	0	0	0.139131	0	64	303		
LARGE	9215	broad.mit.edu	37	22	34157439	34157439	+	Missense_Mutation	SNP	G	G	A	rs369251728		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:34157439G>A	ENST00000354992.2	-	3	596	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	LARGE_ENST00000402320.1_Missense_Mutation_p.R9W|LARGE_ENST00000437602.2_Missense_Mutation_p.R9W|LARGE_ENST00000337431.2_Missense_Mutation_p.R9W|LARGE_ENST00000397394.2_Missense_Mutation_p.R9W	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	9					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.R9W(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AAGAATTTCCGTCTCCCCCTG	0.532																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|endometrium(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(25-27)CGG>TGG		like-glycosyltransferase		G	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	128.0	118.0	121.0		25,25	4.8	1.0	22		121	0,8600		0,0,4300	no	missense,missense	LARGE	NM_004737.4,NM_133642.3	101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	9/757,9/757	34157439	2,13004	2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34157439G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.25C>T	22.37:g.34157439G>A	ENSP00000347088:p.Arg9Trp					LARGE_uc003ane.3_Missense_Mutation_p.R9W|LARGE_uc010gwp.2_Missense_Mutation_p.R9W|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.R9W	p.R9W	NM_004737	NP_004728	O95461	LARGE_HUMAN			3	604	-		Lung NSC(1;0.219)	9			Cytoplasmic (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.25C>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915506	0.73098	4.54E-4	0.0	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.54675	1.06;1.02;1.06;1.02;0.56;1.27;1.26;1.24	5.83	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	N	0.14661	0.345	0.80722	D	1	D;P;D	0.69078	0.993;0.956;0.997	B;B;P	0.47299	0.446;0.401;0.543	T	0.47560	-0.9108	10	0.62326	D	0.03	.	13.3771	0.60745	0.0:0.0:0.7152:0.2848	.	9;9;9	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	W	9	ENSP00000347088:R9W;ENSP00000336636:R9W;ENSP00000380549:R9W;ENSP00000385223:R9W;ENSP00000388544:R9W;ENSP00000396277:R9W;ENSP00000415546:R9W;ENSP00000389605:R9W	ENSP00000336636:R9W	R	-	1	2	LARGE	32487439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.293000	0.51779	1.435000	0.47434	0.655000	0.94253	CGG		0.532	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2		NM_133642		7	163	0	0	0	0.02938	0	7	163		
MICALL1	85377	broad.mit.edu	37	22	38329085	38329085	+	Silent	SNP	C	C	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:38329085C>G	ENST00000215957.6	+	13	2400	c.2274C>G	c.(2272-2274)gtC>gtG	p.V758V	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	758	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.V758V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGCTGATGTCGAGTATGAGC	0.632																																						uc003aui.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(2272-2274)GTC>GTG		molecule interacting with Rab13							63.0	64.0	64.0					22																	38329085		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38329085C>G	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2274C>G	22.37:g.38329085C>G							p.V758V	NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN			13	2358	+	Melanoma(58;0.045)		758					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.2274C>G	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424879	0.25639	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.54	2.25	0.28309	.	.	.	.	.	T	0.62171	0.2406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57573	-0.7788	4	.	.	.	.	12.3725	0.55261	0.0682:0.15:0.7819:0.0	.	.	.	.	G	334	.	.	R	+	1	2	MICALL1	36659031	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	0.762000	0.26503	0.280000	0.22209	-0.179000	0.13096	CGA		0.632	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4		NM_033386		12	91	0	0	0	0.09319	0	12	91		
KLHDC7B	113730	broad.mit.edu	37	22	50987674	50987674	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:50987674G>A	ENST00000395676.2	+	1	1213	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	360								p.G261E(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTTCTGGCGGGGGGCATCCGT	0.667																																						uc003bmi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1078-1080)GGG>GAG		kelch domain containing 7B							40.0	49.0	46.0					22																	50987674		2140	4151	6291	SO:0001583	missense	113730							g.chr22:50987674G>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1079G>A	22.37:g.50987674G>A	ENSP00000379034:p.Gly360Glu						p.G360E	NM_138433	NP_612442	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1213	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	360			Kelch 2.			Missense_Mutation	SNP	ENST00000395676.2	37	c.1079G>A	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863663	0.91511	.	.	ENSG00000130487	ENST00000395676	D	0.98792	-5.14	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.000000	0.35555	U	0.003129	D	0.99539	0.9835	H	0.98849	4.35	0.58432	D	0.999992	D	0.76494	0.999	D	0.79108	0.992	D	0.97830	1.0262	10	0.87932	D	0	.	16.5472	0.84450	0.0:0.0:1.0:0.0	.	360	Q96G42	KLD7B_HUMAN	E	360	ENSP00000379034:G360E	ENSP00000379034:G360E	G	+	2	0	KLHDC7B	49334540	1.000000	0.71417	0.966000	0.40874	0.926000	0.56050	5.343000	0.65976	2.528000	0.85240	0.491000	0.48974	GGG		0.667	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2		NM_138433		27	123	0	0	0	0.144211	0	27	123		
CPT1B	1375	broad.mit.edu	37	22	51009598	51009598	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr22:51009598C>T	ENST00000360719.2	-	15	2001	c.1864G>A	c.(1864-1866)Ggg>Agg	p.G622R	CPT1B_ENST00000395650.2_Missense_Mutation_p.G622R|CPT1B_ENST00000405237.3_Missense_Mutation_p.G622R|CPT1B_ENST00000434492.2_Missense_Mutation_p.G417R|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.G622R|CPT1B_ENST00000457250.1_Missense_Mutation_p.G588R|CPT1B_ENST00000440709.1_Missense_Mutation_p.G541R	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	622					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.G622R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGTGGGACCCCTCCATCATG	0.612																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1864-1866)GGG>AGG		carnitine palmitoyltransferase 1B isoform a							137.0	114.0	122.0					22																	51009598		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009598C>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1864G>A	22.37:g.51009598C>T	ENSP00000353945:p.Gly622Arg					CPT1B_uc003bml.2_Missense_Mutation_p.G622R|CPT1B_uc003bmm.2_Missense_Mutation_p.G622R|CPT1B_uc003bmo.2_Missense_Mutation_p.G622R|CPT1B_uc011asa.1_Missense_Mutation_p.G588R|CPT1B_uc003bmn.2_Missense_Mutation_p.G622R|CPT1B_uc011asb.1_Missense_Mutation_p.G541R|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.G417R|uc003bmr.1_RNA	p.G622R	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	14	2026	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	622			Cytoplasmic (Potential).		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1864G>A	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	2.203	-0.382417	0.04966	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.29	1.98	0.26296	.	0.856778	0.10489	N	0.668618	T	0.76637	0.4015	L	0.57536	1.79	0.09310	N	1	P;B;B;B	0.46784	0.884;0.001;0.146;0.146	B;B;B;B	0.44224	0.444;0.005;0.188;0.058	T	0.65809	-0.6078	10	0.54805	T	0.06	-19.6448	5.669	0.17711	0.1221:0.5889:0.2088:0.0802	.	541;588;417;622	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	R	622;622;622;588;541;417;622	ENSP00000385486:G622R;ENSP00000312189:G622R;ENSP00000353945:G622R;ENSP00000409342:G588R;ENSP00000414713:G541R;ENSP00000410966:G417R;ENSP00000379011:G622R	ENSP00000312189:G622R	G	-	1	0	CPT1B	49356464	0.383000	0.25156	0.001000	0.08648	0.003000	0.03518	1.117000	0.31234	0.819000	0.34492	-1.134000	0.01955	GGG		0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5		NM_152246		19	109	0	0	0	0.049695	0	19	109		
HEG1	57493	broad.mit.edu	37	3	124728594	124728594	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:124728594T>C	ENST00000311127.4	-	8	3215	c.3148A>G	c.(3148-3150)Aaa>Gaa	p.K1050E		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1050	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.K1050E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACCGGGCATTTGCAGATAAAG	0.428																																						uc003ehs.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3148-3150)AAA>GAA		HEG homolog 1 precursor							79.0	78.0	78.0					3																	124728594		1905	4116	6021	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124728594T>C	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3148A>G	3.37:g.124728594T>C	ENSP00000311502:p.Lys1050Glu					HEG1_uc011bke.1_Missense_Mutation_p.K1150E	p.K1050E	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			8	3216	-			1050			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.3148A>G	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	T	4.705	0.131107	0.08981	.	.	ENSG00000173706	ENST00000311127	D	0.91894	-2.93	4.09	2.93	0.34026	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.887861	0.09250	U	0.828006	T	0.77791	0.4183	N	0.05177	-0.1	0.09310	N	0.999998	B	0.22909	0.077	B	0.17433	0.018	T	0.66870	-0.5814	10	0.05959	T	0.93	.	4.5389	0.12047	0.0:0.1048:0.2187:0.6765	.	1050	Q9ULI3	HEG1_HUMAN	E	1050	ENSP00000311502:K1050E	ENSP00000311502:K1050E	K	-	1	0	HEG1	126211284	0.947000	0.32204	0.792000	0.32020	0.951000	0.60555	1.496000	0.35638	0.923000	0.37045	0.533000	0.62120	AAA		0.428	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2		XM_087386		9	41	0	0	0	0.058154	0	9	41		
STAG1	10274	broad.mit.edu	37	3	136088080	136088080	+	Silent	SNP	T	T	C	rs143784838	byFrequency	TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:136088080T>C	ENST00000383202.2	-	24	2671	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	STAG1_ENST00000434713.2_Silent_p.Q579Q|STAG1_ENST00000236698.5_Silent_p.Q805Q|STAG1_ENST00000536929.1_Silent_p.Q389Q	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	805					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.Q805Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTGTCATTAATTGGTGGCTGA	0.393													T|||	2	0.000399361	0.0015	0.0	5008	,	,		16425	0.0		0.0	False		,,,				2504	0.0					uc003era.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(2413-2415)CAA>CAG		stromal antigen 1		T		8,4398	14.3+/-33.2	0,8,2195	83.0	83.0	83.0		2415	-5.3	0.9	3	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	STAG1	NM_005862.2		0,8,6495	CC,CT,TT		0.0,0.1816,0.0615		805/1259	136088080	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136088080T>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2415A>G	3.37:g.136088080T>C						STAG1_uc003erb.1_Silent_p.Q805Q|STAG1_uc003erc.1_Silent_p.Q579Q	p.Q805Q	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			24	2707	-			805					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.2415A>G	CCDS3090.1																																																																																				0.393	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		NM_005862		18	84	0	0	0	0.043863	0	18	84		
RBP2	5948	broad.mit.edu	37	3	139181129	139181129	+	Missense_Mutation	SNP	A	A	G	rs142756165		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:139181129A>G	ENST00000232217.2	-	2	133	c.77T>C	c.(76-78)aTt>aCt	p.I26T	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	26					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.I26T(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	GGCAAAATCAATATCTGTTGG	0.428																																						uc003eth.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(76-78)ATT>ACT		retinol binding protein 2, cellular	Vitamin A(DB00162)	A	THR/ILE	6,4400	11.4+/-27.6	0,6,2197	160.0	139.0	146.0		77	5.8	1.0	3	dbSNP_134	146	0,8600		0,0,4300	yes	missense	RBP2	NM_004164.2	89	0,6,6497	GG,GA,AA		0.0,0.1362,0.0461	probably-damaging	26/135	139181129	6,13000	2203	4300	6503	SO:0001583	missense	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139181129A>G	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.77T>C	3.37:g.139181129A>G	ENSP00000232217:p.Ile26Thr						p.I26T	NM_004164	NP_004155	P50120	RET2_HUMAN			2	128	-			26					A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	c.77T>C	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480730	0.84747	0.001362	0.0	ENSG00000114113	ENST00000232217;ENST00000511956	T;T	0.08634	3.07;3.07	5.8	5.8	0.92144	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.81341	2.54	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	T	0.05257	-1.0896	10	0.87932	D	0	.	16.1442	0.81551	1.0:0.0:0.0:0.0	.	26	P50120	RET2_HUMAN	T	26	ENSP00000232217:I26T;ENSP00000424333:I26T	ENSP00000232217:I26T	I	-	2	0	RBP2	140663819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.185000	0.94900	2.225000	0.72522	0.528000	0.53228	ATT		0.428	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1		NM_004164		19	114	0	0	0	0.049695	0	19	114		
MLF1	4291	broad.mit.edu	37	3	158314703	158314703	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:158314703G>C	ENST00000355893.5	+	3	386	c.248G>C	c.(247-249)aGa>aCa	p.R83T	MLF1_ENST00000359117.5_Missense_Mutation_p.R58T|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000478894.2_Missense_Mutation_p.R73T|MLF1_ENST00000471745.1_Missense_Mutation_p.R73T|MLF1_ENST00000392822.3_Missense_Mutation_p.R114T|MLF1_ENST00000484955.1_Missense_Mutation_p.R58T|MLF1_ENST00000469452.1_Missense_Mutation_p.R58T|MLF1_ENST00000482628.1_Missense_Mutation_p.R58T	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	83	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)	p.R83T(1)|p.R114T(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TCAAATATGAGAAACTATATG	0.318			T	NPM1	AML																																	uc003fcb.2		NaN		Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		2	Substitution - Missense(2)		urinary_tract(2)		0						c.(247-249)AGA>ACA		myeloid leukemia factor 1 isoform 1							61.0	60.0	60.0					3																	158314703		2202	4299	6501	SO:0001583	missense	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158314703G>C	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.248G>C	3.37:g.158314703G>C	ENSP00000348157:p.Arg83Thr					MLF1_uc003fbz.2_Missense_Mutation_p.R58T|MLF1_uc003fca.2_Missense_Mutation_p.R58T|MLF1_uc003fbx.2_Missense_Mutation_p.R73T|MLF1_uc003fcc.2_Missense_Mutation_p.R114T|MLF1_uc003fby.2_Missense_Mutation_p.R9T|MLF1_uc010hvx.2_Missense_Mutation_p.R58T	p.R83T	NM_022443	NP_071888	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		3	385	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	83			Interaction with COPS3.		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	ENST00000355893.5	37	c.248G>C	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105449	0.37145	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T;T	0.54866	0.83;0.8;0.82;0.82;0.87;0.85;0.55;0.82;0.85;0.82	5.82	4.96	0.65561	.	0.188326	0.44688	D	0.000434	T	0.66597	0.2805	M	0.66939	2.045	0.36080	D	0.842691	D;D;D	0.76494	0.995;0.999;0.998	D;D;D	0.76575	0.94;0.988;0.957	T	0.69194	-0.5209	10	0.13470	T	0.59	-3.2183	13.2051	0.59790	0.0732:0.0:0.9268:0.0	.	58;114;83	Q2TLE5;Q8N8F8;P58340	.;.;MLF1_HUMAN	T	9;83;58;58;38;73;73;58;58;73;114;98	ENSP00000420410:R9T;ENSP00000348157:R83T;ENSP00000417835:R58T;ENSP00000352025:R58T;ENSP00000419636:R38T;ENSP00000420134:R73T;ENSP00000418595:R58T;ENSP00000417141:R58T;ENSP00000417777:R73T;ENSP00000376568:R114T	ENSP00000348157:R83T	R	+	2	0	MLF1	159797397	1.000000	0.71417	0.271000	0.24616	0.013000	0.08279	4.015000	0.57152	1.485000	0.48380	-0.142000	0.14014	AGA		0.318	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3		NM_022443		13	35	0	0	0	0.132662	0	13	35		
SLC2A2	6514	broad.mit.edu	37	3	170716012	170716012	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr3:170716012G>A	ENST00000314251.3	-	10	1423	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SLC2A2_ENST00000382808.4_Silent_p.F329F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	448					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.F448F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	GAGCTACAATGAAATTGCAGG	0.458																																						uc003fhe.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1342-1344)TTC>TTT		solute carrier family 2 (facilitated glucose							84.0	83.0	83.0					3																	170716012		2203	4300	6503	SO:0001819	synonymous_variant	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170716012G>A	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1344C>T	3.37:g.170716012G>A						SLC2A2_uc003fhf.1_Silent_p.F275F|SLC2A2_uc011bpu.1_Silent_p.F321F	p.F448F	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		10	1653	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		448			Helical; Name=11; (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	ENST00000314251.3	37	c.1344C>T	CCDS3215.1																																																																																				0.458	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1		NM_000340		16	88	0	0	0	0.132662	0	16	88		
SORBS2	8470	broad.mit.edu	37	4	186544867	186544867	+	Silent	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr4:186544867C>A	ENST00000284776.7	-	13	2213	c.1704G>T	c.(1702-1704)cgG>cgT	p.R568R	SORBS2_ENST00000418609.1_Silent_p.R472R|SORBS2_ENST00000431808.1_Silent_p.R568R|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Silent_p.R668R|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	568					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.R568R(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGCAGCCTCGCCGGCCCCGAG	0.592																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1702-1704)CGG>CGT		sorbin and SH3 domain containing 2 isoform 2							24.0	30.0	28.0					4																	186544867		2194	4274	6468	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544867C>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1704G>T	4.37:g.186544867C>A						SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.R668R|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.R472R|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.R682R|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.R568R	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2562	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	568					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1704G>T	CCDS3845.1																																																																																				0.592	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3		NM_003603		6	56	1	0	0.00307968	0.038147	0.0031421	6	56		
IRX1	79192	broad.mit.edu	37	5	3600733	3600733	+	Silent	SNP	C	C	T	rs370521377		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:3600733C>T	ENST00000302006.3	+	3	1375	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	441					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L441L(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGAGAGACCTCGTCCCCAGGC	0.617																																						uc003jde.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1321-1323)CTC>CTT		iroquois homeobox protein 1							56.0	60.0	59.0					5																	3600733		2203	4300	6503	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600733C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1323C>T	5.37:g.3600733C>T							p.L441L	NM_024337	NP_077313	P78414	IRX1_HUMAN			3	1375	+			441					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.1323C>T	CCDS34132.1																																																																																				0.617	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1		NM_024337		10	141	0	0	0	0.058154	0	10	141		
TRIO	7204	broad.mit.edu	37	5	14359563	14359563	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:14359563G>C	ENST00000344204.4	+	13	2338	c.2314G>C	c.(2314-2316)Gag>Cag	p.E772Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E772Q|TRIO_ENST00000509967.2_Missense_Mutation_p.E723Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	772					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E772Q(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCGCAGATGGAGGAGCTCTT	0.617																																						uc003jff.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(2314-2316)GAG>CAG		triple functional domain (PTPRF interacting)							82.0	73.0	76.0					5																	14359563		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14359563G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2314G>C	5.37:g.14359563G>C	ENSP00000339299:p.Glu772Gln					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E723Q|TRIO_uc003jfh.1_Missense_Mutation_p.E421Q	p.E772Q	NM_007118	NP_009049	O75962	TRIO_HUMAN			13	2320	+	Lung NSC(4;0.000742)		772					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2314G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268872	0.80469	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.46819	0.86;0.86;0.86	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	M	0.68317	2.08	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.993	D;D;D	0.74674	0.984;0.964;0.979	T	0.71056	-0.4703	10	0.66056	D	0.02	.	18.6935	0.91592	0.0:0.0:1.0:0.0	.	723;772;772	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	Q	772;772;723;459	ENSP00000339299:E772Q;ENSP00000446348:E772Q;ENSP00000445592:E723Q	ENSP00000339299:E772Q	E	+	1	0	TRIO	14412563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.489000	0.83994	0.650000	0.86243	GAG		0.617	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		8	104	0	0	0	0.058154	0	8	104		
TRIM23	373	broad.mit.edu	37	5	64906836	64906836	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:64906836C>A	ENST00000231524.9	-	5	1051	c.680G>T	c.(679-681)cGa>cTa	p.R227L	TRIM23_ENST00000274327.7_Missense_Mutation_p.R227L|TRIM23_ENST00000381018.3_Missense_Mutation_p.R227L|TRIM23_ENST00000508808.1_5'Flank	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	227					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R227L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATTGATGCTCGGATCTGATT	0.333																																						uc003jty.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(1)	4						c.(679-681)CGA>CTA		ADP-ribosylation factor domain protein 1 isoform							93.0	90.0	91.0					5																	64906836		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64906836C>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.680G>T	5.37:g.64906836C>A	ENSP00000231524:p.Arg227Leu					TRIM23_uc003jtw.2_Missense_Mutation_p.R227L|TRIM23_uc003jtx.2_Missense_Mutation_p.R227L	p.R227L	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	5	766	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	227					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.680G>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285211	0.95517	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.58210	0.35;0.35;0.35	5.57	5.57	0.84162	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.91635	0.931;0.999;0.998	T	0.72931	-0.4142	10	0.87932	D	0	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	227;227;227	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	L	227	ENSP00000231524:R227L;ENSP00000370406:R227L;ENSP00000274327:R227L	ENSP00000231524:R227L	R	-	2	0	TRIM23	64942592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.426000	0.80270	2.633000	0.89246	0.591000	0.81541	CGA		0.333	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2		NM_001656		3	51	1	0	0.00909568	0.150653	0.00921777	3	51		
MAP1B	4131	broad.mit.edu	37	5	71493610	71493610	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:71493610G>C	ENST00000296755.7	+	5	4726	c.4428G>C	c.(4426-4428)aaG>aaC	p.K1476N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1476					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.K1476N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCCAAGAAAAGAAAACTGATG	0.408																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(4426-4428)AAG>AAC		microtubule-associated protein 1B							82.0	80.0	81.0					5																	71493610		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493610G>C	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4428G>C	5.37:g.71493610G>C	ENSP00000296755:p.Lys1476Asn					MAP1B_uc010iyw.1_Missense_Mutation_p.K1493N|MAP1B_uc010iyx.1_Missense_Mutation_p.K1350N|MAP1B_uc010iyy.1_Missense_Mutation_p.K1350N	p.K1476N	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4669	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1476					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4428G>C	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635845	0.29068	.	.	ENSG00000131711	ENST00000296755	T	0.03413	3.94	5.54	4.67	0.58626	.	0.185454	0.37857	N	0.001919	T	0.03305	0.0096	N	0.24115	0.695	0.32280	N	0.567681	P;P	0.38922	0.651;0.651	B;B	0.38428	0.273;0.273	T	0.33445	-0.9868	10	0.35671	T	0.21	-13.0066	10.0482	0.42199	0.214:0.0:0.786:0.0	.	1350;1476	A2BDK6;P46821	.;MAP1B_HUMAN	N	1476	ENSP00000296755:K1476N	ENSP00000296755:K1476N	K	+	3	2	MAP1B	71529366	0.995000	0.38212	0.993000	0.49108	0.892000	0.51952	1.643000	0.37217	1.329000	0.45376	0.555000	0.69702	AAG		0.408	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6		NM_005909		24	79	0	0	0	0.083992	0	24	79		
ARSB	411	broad.mit.edu	37	5	78076390	78076390	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:78076390C>T	ENST00000264914.4	-	8	1968	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	478					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)	p.D478N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGGTCCCGATCAATATCAAAG	0.498																																					Melanoma(169;563 1968 25780 26156 52266)	uc003kfq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(1432-1434)GAT>AAT		arylsulfatase B isoform 1 precursor							101.0	94.0	96.0					5																	78076390		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78076390C>T	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1432G>A	5.37:g.78076390C>T	ENSP00000264914:p.Asp478Asn						p.D478N	NM_000046	NP_000037	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	8	2718	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	478					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.1432G>A	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774758	0.31411	.	.	ENSG00000113273	ENST00000264914	D	0.92249	-3.0	5.58	2.59	0.31030	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.049400	0.07375	N	0.886431	D	0.84092	0.5396	N	0.14661	0.345	0.18873	N	0.999988	B	0.02656	0.0	B	0.12156	0.007	T	0.69146	-0.5222	10	0.20519	T	0.43	.	9.3151	0.37930	0.0:0.7147:0.1316:0.1537	.	478	P15848	ARSB_HUMAN	N	478	ENSP00000264914:D478N	ENSP00000264914:D478N	D	-	1	0	ARSB	78112146	0.988000	0.35896	0.393000	0.26258	0.878000	0.50629	2.354000	0.44098	0.690000	0.31570	0.555000	0.69702	GAT		0.498	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2		NM_000046		4	80	0	0	0	0.150653	0	4	80		
PAPD4	167153	broad.mit.edu	37	5	78964813	78964813	+	Silent	SNP	C	C	G	rs371560519		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:78964813C>G	ENST00000296783.3	+	13	1469	c.1170C>G	c.(1168-1170)ctC>ctG	p.L390L	PAPD4_ENST00000453514.1_Silent_p.L390L|PAPD4_ENST00000428308.2_Silent_p.L390L|PAPD4_ENST00000423041.2_Silent_p.L386L|PAPD4_ENST00000504233.1_Silent_p.L347L			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	390	PAP-associated.				hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.L390L(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TTGGGGACCTCTTACTGGGCT	0.363																																						uc010jae.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1168-1170)CTC>CTG		PAP associated domain containing 4		C	,,	1,4405	2.1+/-5.4	0,1,2202	139.0	142.0	141.0		1170,1170,1170	3.7	1.0	5		141	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PAPD4	NM_001114393.1,NM_001114394.1,NM_173797.3	,,	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	,,	390/485,390/485,390/485	78964813	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78964813C>G	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1170C>G	5.37:g.78964813C>G						PAPD4_uc003kgb.2_Silent_p.L390L|PAPD4_uc010jaf.1_Silent_p.L390L|PAPD4_uc003kga.2_Silent_p.L386L|PAPD4_uc003kfz.2_Silent_p.L347L	p.L390L	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	13	1588	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	390			PAP-associated.		Q86WZ2|Q8N927	Silent	SNP	ENST00000296783.3	37	c.1170C>G	CCDS4048.1																																																																																				0.363	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1		NM_173797		64	197	0	0	0	0.139131	0	64	197		
CKMT2	1160	broad.mit.edu	37	5	80561982	80561982	+	Missense_Mutation	SNP	G	G	A	rs550283213		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:80561982G>A	ENST00000424301.2	+	11	1403	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D389N|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D389N	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	389	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.D389N(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GATAGTCATCGATGGAGTCAA	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18118	0.0		0.0	False		,,,				2504	0.0					uc003khc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1165-1167)GAT>AAT		sarcomeric mitochondrial creatine kinase	Creatine(DB00148)						185.0	193.0	190.0					5																	80561982		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80561982G>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1165G>A	5.37:g.80561982G>A	ENSP00000404203:p.Asp389Asn					RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.D389N|CKMT2_uc003khd.3_Missense_Mutation_p.D389N|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	p.D389N	NM_001825	NP_001816	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	11	1407	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	389			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.1165G>A	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788612	0.90367	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.12255	2.7;2.7;2.7	5.82	5.82	0.92795	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.86651	2.83	0.80722	D	1	P	0.43412	0.806	B	0.37692	0.256	T	0.22556	-1.0213	10	0.62326	D	0.03	.	20.0905	0.97816	0.0:0.0:1.0:0.0	.	389	P17540	KCRS_HUMAN	N	389	ENSP00000254035:D389N;ENSP00000410289:D389N;ENSP00000404203:D389N	ENSP00000254035:D389N	D	+	1	0	CKMT2	80597738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.713000	0.98740	2.762000	0.94881	0.650000	0.86243	GAT		0.418	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1		NM_001825		26	253	0	0	0	0.083992	0	26	253		
FER	2241	broad.mit.edu	37	5	108436173	108436173	+	Silent	SNP	C	C	T	rs574570972		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:108436173C>T	ENST00000281092.4	+	17	2385	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D	FER_ENST00000438717.2_Silent_p.D492D	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	667	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D667D(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTTCATTAGACGCTGCTGCTG	0.348													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19143	0.0		0.0	False		,,,				2504	0.0				Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(1999-2001)GAC>GAT		fer (fps/fes related) tyrosine kinase							85.0	94.0	91.0					5																	108436173		2202	4300	6502	SO:0001819	synonymous_variant	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108436173C>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2001C>T	5.37:g.108436173C>T						FER_uc011cvg.1_Silent_p.D492D	p.D667D	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	17	2385	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	667			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	c.2001C>T	CCDS4098.1																																																																																				0.348	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1		NM_005246		7	65	0	0	0	0.038147	0	7	65		
PCDHGA1	56114	broad.mit.edu	37	5	140710506	140710506	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140710506C>T	ENST00000517417.1	+	1	255	c.255C>T	c.(253-255)atC>atT	p.I85I	PCDHGA1_ENST00000378105.3_Silent_p.I85I|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I85I(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTGATCACCGCGCGCA	0.547																																						uc003lji.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(253-255)ATC>ATT		protocadherin gamma subfamily A, 1 isoform 1							111.0	122.0	118.0					5																	140710506		2203	4300	6503	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710506C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.255C>T	5.37:g.140710506C>T						PCDHGA1_uc011dan.1_Silent_p.I85I	p.I85I	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	255	+			85			Cadherin 1.|Extracellular (Potential).		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.255C>T	CCDS54922.1																																																																																				0.547	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1		NM_018912		19	205	0	0	0	0.083992	0	19	205		
PCDHGA4	56111	broad.mit.edu	37	5	140736823	140736823	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140736823G>T	ENST00000571252.1	+	1	2056	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	686					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCCAGACGACTCGGGCCT	0.617																																						uc003ljq.1		NaN																	0					0						c.(2056-2058)GAC>TAC		protocadherin gamma subfamily A, 4 isoform 1							37.0	42.0	40.0					5																	140736823		2195	4298	6493	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736823G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2056G>T	5.37:g.140736823G>T	ENSP00000458570:p.Asp686Tyr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.D686Y|PCDHGB2_uc011dar.1_5'Flank	p.D686Y	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2056	+			686			Extracellular (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.2056G>T	CCDS58979.1																																																																																				0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1		NM_018917		16	44	1	0	1.45105e-14	0.175082	1.59933e-14	16	44		
PCDHGB4	8641	broad.mit.edu	37	5	140769617	140769617	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr5:140769617G>C	ENST00000519479.1	+	1	2166	c.2166G>C	c.(2164-2166)tgG>tgC	p.W722C	PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	722					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W722C(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCTCCTGGAGCTGCTTCC	0.572																																						uc003lkc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2164-2166)TGG>TGC		protocadherin gamma subfamily B, 4 isoform 1							145.0	162.0	156.0					5																	140769617		2011	4182	6193	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769617G>C	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2166G>C	5.37:g.140769617G>C	ENSP00000428288:p.Trp722Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.W722C	p.W722C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2166	+			722			Cytoplasmic (Potential).		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.2166G>C	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	2.716	-0.267791	0.05754	.	.	ENSG00000253953	ENST00000519479	T	0.14640	2.49	5.85	1.8	0.24995	.	.	.	.	.	T	0.17492	0.0420	M	0.82923	2.615	0.09310	N	0.999991	B;B	0.15141	0.003;0.012	B;B	0.18263	0.017;0.021	T	0.23691	-1.0181	9	0.41790	T	0.15	.	4.5069	0.11893	0.1319:0.2211:0.5335:0.1135	.	722;722	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	C	722	ENSP00000428288:W722C	ENSP00000428288:W722C	W	+	3	0	PCDHGB4	140749801	0.016000	0.18221	0.866000	0.34008	0.014000	0.08584	0.482000	0.22276	0.814000	0.34374	-0.257000	0.10917	TGG		0.572	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		NM_003736		42	293	0	0	0	0.139131	0	42	293		
MDC1	9656	broad.mit.edu	37	6	30673687	30673687	+	Silent	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:30673687C>T	ENST00000376406.3	-	10	3920	c.3273G>A	c.(3271-3273)gaG>gaA	p.E1091E	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.E827E	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1091	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.E1091E(1)		breast(2)|kidney(1)|ovary(1)	4						ACAAGGGAGCCTCTGGAGCTT	0.527								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|ovary(1)|kidney(1)	4						c.(3271-3273)GAG>GAA	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							168.0	180.0	176.0					6																	30673687		2203	4300	6503	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673687C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3273G>A	6.37:g.30673687C>T						MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.E698E	p.E1091E	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	3713	-			1091	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.3273G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167395	0.09339	.	.	ENSG00000137337	ENST00000417033	.	.	.	4.4	2.6	0.31112	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22695	-1.0209	4	.	.	.	-4.1258	6.3843	0.21552	0.0:0.7816:0.0:0.2184	.	.	.	.	S	152	.	.	G	-	1	0	MDC1	30781666	0.001000	0.12720	0.002000	0.10522	0.216000	0.24613	1.106000	0.31098	0.501000	0.28013	0.478000	0.44815	GGC		0.527	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		57	378	0	0	0	0.139131	0	57	378		
DDX39B	7919	broad.mit.edu	37	6	31498940	31498940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:31498940G>A	ENST00000396172.1	-	9	1642	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	DDX39B_ENST00000462421.1_5'Flank|DDX39B_ENST00000376177.2_Nonsense_Mutation_p.R338*|DDX39B_ENST00000458640.1_Nonsense_Mutation_p.R338*|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Nonsense_Mutation_p.R353*|DDX39B_ENST00000415382.2_Nonsense_Mutation_p.R260*	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	338	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.R338*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGAATTCGTCGTTGAAAATCT	0.418																																						uc003ntt.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1012-1014)CGA>TGA		HLA-B associated transcript 1							58.0	60.0	59.0					6																	31498940		2203	4300	6503	SO:0001587	stop_gained	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31498940G>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1012C>T	6.37:g.31498940G>A	ENSP00000379475:p.Arg338*					BAT1_uc003ntq.2_Nonsense_Mutation_p.R71*|BAT1_uc003ntr.2_Nonsense_Mutation_p.R145*|BAT1_uc003nts.2_Nonsense_Mutation_p.R338*|BAT1_uc011dnn.1_Nonsense_Mutation_p.R260*|BAT1_uc003ntu.2_Nonsense_Mutation_p.R338*|BAT1_uc003ntv.2_Nonsense_Mutation_p.R338*	p.R338*	NM_004640	NP_004631	Q13838	DX39B_HUMAN			9	1643	-			338			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Nonsense_Mutation	SNP	ENST00000396172.1	37	c.1012C>T	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	G	43	10.118570	0.99340	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382	.	.	.	5.42	4.52	0.55395	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-0.5317	11.2745	0.49159	0.0:0.0:0.6436:0.3564	.	.	.	.	X	338;338;338;353;260	.	ENSP00000365347:R338X	R	-	1	2	DDX39B	31606919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.434000	0.34958	1.445000	0.47624	0.563000	0.77884	CGA		0.418	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1		NM_004640		14	73	0	0	0	0.175082	0	14	73		
GLO1	2739	broad.mit.edu	37	6	38649846	38649846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:38649846G>T	ENST00000373365.4	-	5	494	c.408C>A	c.(406-408)taC>taA	p.Y136*	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	136					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)	p.Y136*(1)		lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TACAAGCACTGTATACATCAG	0.403																																						uc003ooc.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(406-408)TAC>TAA		glyoxalase I	Glutathione(DB00143)						140.0	129.0	133.0					6																	38649846		2203	4300	6503	SO:0001587	stop_gained	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38649846G>T	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.408C>A	6.37:g.38649846G>T	ENSP00000362463:p.Tyr136*						p.Y136*	NM_006708	NP_006699	Q04760	LGUL_HUMAN			5	530	-			136					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Nonsense_Mutation	SNP	ENST00000373365.4	37	c.408C>A	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570392	0.65765	.	.	ENSG00000124767	ENST00000373365	.	.	.	6.01	-9.8	0.00490	.	0.554792	0.22123	N	0.064315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-1.224	10.3564	0.43967	0.4469:0.0:0.4558:0.0973	.	.	.	.	X	136	.	ENSP00000362463:Y136X	Y	-	3	2	GLO1	38757824	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-0.099000	0.11007	-1.391000	0.02085	-0.806000	0.03193	TAC		0.403	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2		NM_006708		19	122	1	0	1.50039e-11	0.062417	1.62992e-11	19	122		
ROS1	6098	broad.mit.edu	37	6	117710590	117710590	+	Missense_Mutation	SNP	G	G	A	rs199766618		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:117710590G>A	ENST00000368508.3	-	12	1880	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L	ROS1_ENST00000368507.3_Missense_Mutation_p.P570L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	561	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P561L(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGCTCCTGCGGGCGGCCTGG	0.557			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		16496	0.001		0.0	False		,,,				2504	0.0					uc003pxp.1		NaN		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		urinary_tract(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1681-1683)CCG>CTG		proto-oncogene c-ros-1 protein precursor							77.0	83.0	81.0					6																	117710590		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117710590G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1682C>T	6.37:g.117710590G>A	ENSP00000357494:p.Pro561Leu					ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	p.P561L	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	12	1881	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	561			Fibronectin type-III 3.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1682C>T	CCDS5116.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.5	4.162202	0.78226	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.90197	-2.63;-0.58	5.27	5.27	0.74061	.	0.203527	0.34435	N	0.003970	D	0.93041	0.7785	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93886	0.7175	10	0.87932	D	0	.	16.0254	0.80538	0.0:0.0:1.0:0.0	.	561	P08922	ROS1_HUMAN	L	561;570	ENSP00000357494:P561L;ENSP00000357493:P570L	ENSP00000357493:P570L	P	-	2	0	ROS1	117817283	1.000000	0.71417	0.699000	0.30290	0.856000	0.48823	7.323000	0.79105	2.449000	0.82847	0.561000	0.74099	CCG		0.557	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1				18	145	0	0	0	0.160694	0	18	145		
THEMIS	387357	broad.mit.edu	37	6	128150707	128150707	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:128150707T>G	ENST00000368248.2	-	3	771	c.623A>C	c.(622-624)aAg>aCg	p.K208T	THEMIS_ENST00000543064.1_Missense_Mutation_p.K208T|THEMIS_ENST00000368250.1_Missense_Mutation_p.K129T|THEMIS_ENST00000537166.1_Missense_Mutation_p.K173T	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	208	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K208T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGAGTCCCACTTATTTGAAAA	0.363																																						uc003qbi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(622-624)AAG>ACG		thymocyte selection pathway associated isoform							121.0	117.0	118.0					6																	128150707		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150707T>G	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.623A>C	6.37:g.128150707T>G	ENSP00000357231:p.Lys208Thr					THEMIS_uc010kfa.2_Missense_Mutation_p.K111T|THEMIS_uc011ebt.1_Missense_Mutation_p.K208T|THEMIS_uc010kfb.2_Missense_Mutation_p.K173T	p.K208T	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			4	942	-			208			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.623A>C	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896379	0.33442	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	6.14	4.92	0.64577	.	0.203604	0.44483	D	0.000459	T	0.03477	0.0100	N	0.25144	0.715	0.35675	D	0.81361	B;B	0.21071	0.049;0.051	B;B	0.24006	0.05;0.049	T	0.29549	-1.0008	10	0.34782	T	0.22	-20.5454	6.1356	0.20230	0.2241:0.0:0.1834:0.5925	.	208;208	F5H1J9;Q8N1K5	.;THMS1_HUMAN	T	129;208;208;173	ENSP00000357233:K129T;ENSP00000439594:K208T;ENSP00000357231:K208T;ENSP00000439863:K173T	ENSP00000357231:K208T	K	-	2	0	THEMIS	128192400	0.000000	0.05858	0.996000	0.52242	0.956000	0.61745	0.124000	0.15728	2.367000	0.80283	0.529000	0.55759	AAG		0.363	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_001010923		28	107	0	0	0	0.116897	0	28	107		
FUCA2	2519	broad.mit.edu	37	6	143825240	143825240	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:143825240G>A	ENST00000002165.6	-	3	617	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|FUCA2_ENST00000367585.1_Intron	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	188					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.H188Y(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AAGAGCGGATGAAACCATTCA	0.443																																						uc003qjm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(562-564)CAT>TAT		fucosidase, alpha-L- 2, plasma precursor							108.0	100.0	103.0					6																	143825240		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143825240G>A	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.562C>T	6.37:g.143825240G>A	ENSP00000002165:p.His188Tyr					FUCA2_uc003qjn.2_5'Flank	p.H188Y	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	3	654	-			188					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.562C>T	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035062	0.75617	.	.	ENSG00000001036	ENST00000002165	T	0.58797	0.31	5.72	3.72	0.42706	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.107626	0.64402	D	0.000001	T	0.59918	0.2229	M	0.80746	2.51	0.80722	D	1	D	0.63880	0.993	P	0.62740	0.906	T	0.64411	-0.6414	10	0.11794	T	0.64	-15.7244	13.0714	0.59064	0.0:0.0:0.4575:0.5425	.	188	Q9BTY2	FUCO2_HUMAN	Y	188	ENSP00000002165:H188Y	ENSP00000002165:H188Y	H	-	1	0	FUCA2	143866933	1.000000	0.71417	0.976000	0.42696	0.954000	0.61252	4.286000	0.58995	0.682000	0.31407	0.650000	0.86243	CAT		0.443	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2		NM_032020		22	87	0	0	0	0.062417	0	22	87		
PLEKHG1	57480	broad.mit.edu	37	6	151116991	151116991	+	Splice_Site	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:151116991G>C	ENST00000358517.2	+	5	793		c.e5-1		PLEKHG1_ENST00000367328.1_Splice_Site			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1								Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTTCCTTGCAGAGTGAAGAGT	0.343																																						uc003qny.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)	2						c.e6-1		pleckstrin homology domain containing, family G							144.0	136.0	139.0					6																	151116991		2203	4300	6503	SO:0001630	splice_region_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151116991G>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.583-1G>C	6.37:g.151116991G>C						PLEKHG1_uc011eel.1_Splice_Site_p.S235_splice|PLEKHG1_uc011eem.1_Splice_Site_p.S254_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.S195_splice	p.S195_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	6	895	+								Q5T1F2	Splice_Site	SNP	ENST00000358517.2	37	c.583_splice	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240144	0.79912	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5735	0.95432	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHG1	151158684	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	9.414000	0.97362	2.636000	0.89361	0.655000	0.94253	.		0.343	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			Intron	14	133	0	0	0	0.11911	0	14	133		
PLEKHG1	57480	broad.mit.edu	37	6	151116998	151116998	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:151116998G>A	ENST00000358517.2	+	5	800	c.589G>A	c.(589-591)Gag>Aag	p.E197K	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.E197K			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	197	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E197K(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGAGTGAAGAGTTCCACAT	0.358																																						uc003qny.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(589-591)GAG>AAG		pleckstrin homology domain containing, family G							153.0	143.0	147.0					6																	151116998		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151116998G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.589G>A	6.37:g.151116998G>A	ENSP00000351318:p.Glu197Lys					PLEKHG1_uc011eel.1_Missense_Mutation_p.E237K|PLEKHG1_uc011eem.1_Missense_Mutation_p.E256K|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E197K	p.E197K	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	6	901	+			197			DH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.589G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496370	0.85069	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.62788	-0.0;-0.0	5.58	5.58	0.84498	Dbl homology (DH) domain (5);	0.192692	0.53938	D	0.000042	T	0.41166	0.1147	N	0.12422	0.21	0.58432	D	0.999999	B;P;P	0.34699	0.23;0.464;0.464	B;B;B	0.39935	0.284;0.314;0.314	T	0.50915	-0.8771	10	0.51188	T	0.08	.	19.5735	0.95432	0.0:0.0:1.0:0.0	.	4;197;197	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	K	197	ENSP00000356297:E197K;ENSP00000351318:E197K	ENSP00000351318:E197K	E	+	1	0	PLEKHG1	151158691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.107000	0.71517	2.636000	0.89361	0.655000	0.94253	GAG		0.358	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1				15	138	0	0	0	0.132662	0	15	138		
SYNE1	23345	broad.mit.edu	37	6	152651857	152651857	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:152651857T>C	ENST00000367255.5	-	78	14564	c.13963A>G	c.(13963-13965)Att>Gtt	p.I4655V	SYNE1_ENST00000341594.5_Missense_Mutation_p.I4402V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4655V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4584V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4584V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4655					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.I4655V(2)|p.I4584V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGGCAACAATTACATTAAAT	0.428										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(13963-13965)ATT>GTT		spectrin repeat containing, nuclear envelope 1							78.0	75.0	76.0					6																	152651857		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.chr6:152651857T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13963A>G	6.37:g.152651857T>C	ENSP00000356224:p.Ile4655Val	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.I4584V|SYNE1_uc003qou.3_Missense_Mutation_p.I4655V|SYNE1_uc010kiz.2_Missense_Mutation_p.I410V	p.I4655V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14565	-		Ovarian(120;0.0955)	4655			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.13963A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	0.422	-0.907945	0.02434	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49139	1.41;1.41;1.41;1.41;0.79	5.93	0.884	0.19182	.	0.310752	0.27262	N	0.020171	T	0.05640	0.0148	N	0.02225	-0.63	0.58432	D	0.999999	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.14023	0.01;0.002;0.002;0.009	T	0.41662	-0.9496	10	0.05436	T	0.98	.	8.9487	0.35776	0.0:0.5064:0.0:0.4936	.	4655;4655;4655;4584	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	4655;4584;4655;4584;4402	ENSP00000356224:I4655V;ENSP00000396024:I4584V;ENSP00000265368:I4655V;ENSP00000390975:I4584V;ENSP00000341887:I4402V	ENSP00000265368:I4655V	I	-	1	0	SYNE1	152693550	0.208000	0.23494	0.007000	0.13788	0.262000	0.26303	0.657000	0.24963	0.156000	0.19299	-0.326000	0.08463	ATT		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		17	117	0	0	0	0.160694	0	17	117		
SUN1	23353	broad.mit.edu	37	7	897568	897568	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:897568G>A	ENST00000405266.1	+	14	1633	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	SUN1_ENST00000456758.2_Missense_Mutation_p.E689K|SUN1_ENST00000452783.2_Missense_Mutation_p.E397K|SUN1_ENST00000425407.2_Missense_Mutation_p.E417K|SUN1_ENST00000401592.1_Missense_Mutation_p.E500K|SUN1_ENST00000413514.2_Missense_Mutation_p.E298K|SUN1_ENST00000389574.3_Missense_Mutation_p.E417K			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	527					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.E500K(1)|p.E417K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCGGCTGTGAGACAGTGGA	0.468																																						uc011jvp.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1498-1500)GAG>AAG		unc-84 homolog A isoform a							129.0	139.0	136.0					7																	897568		1992	4154	6146	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:897568G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1609G>A	7.37:g.897568G>A	ENSP00000384116:p.Glu537Lys					GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.E417K|SUN1_uc011jvq.1_Missense_Mutation_p.E397K|SUN1_uc003sjg.2_Missense_Mutation_p.E405K|SUN1_uc011jvr.1_Missense_Mutation_p.E298K|SUN1_uc003sji.2_Missense_Mutation_p.E338K|SUN1_uc003sjk.2_Missense_Mutation_p.E139K	p.E500K	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			14	1577	+			527			Perinuclear space.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.1498G>A		.	.	.	.	.	.	.	.	.	.	G	15.31	2.796962	0.50208	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	T;T;T;T;T;T;T;T	0.25085	2.14;2.15;2.16;2.15;2.15;2.15;1.82;1.9	5.15	4.23	0.50019	.	0.653515	0.16714	N	0.202553	T	0.40015	0.1100	M	0.67953	2.075	0.33532	D	0.593704	P;P;P;P;P;D	0.54772	0.773;0.949;0.917;0.907;0.917;0.968	B;P;P;P;P;P	0.53006	0.437;0.715;0.601;0.65;0.601;0.697	T	0.55088	-0.8195	10	0.38643	T	0.18	-30.2348	13.9786	0.64287	0.0:0.1519:0.8481:0.0	.	298;397;500;689;527;417	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.;.;.;.;SUN1_HUMAN;.	K	689;417;397;537;500;527;417;425;298	ENSP00000388743:E689K;ENSP00000374225:E417K;ENSP00000413439:E397K;ENSP00000384116:E537K;ENSP00000384015:E500K;ENSP00000392309:E417K;ENSP00000409909:E425K;ENSP00000389313:E298K	ENSP00000297445:E527K	E	+	1	0	SUN1	864094	0.999000	0.42202	0.410000	0.26471	0.015000	0.08874	6.092000	0.71414	1.239000	0.43787	0.655000	0.94253	GAG		0.468	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1		NM_025154		91	218	0	0	0	0.139131	0	91	218		
ACHE	43	broad.mit.edu	37	7	100489998	100489998	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:100489998C>T	ENST00000412389.1	-	2	1665	c.1510G>A	c.(1510-1512)Gcc>Acc	p.A504T	ACHE_ENST00000241069.5_Missense_Mutation_p.A504T|ACHE_ENST00000411582.1_Missense_Mutation_p.A504T|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000428317.1_Missense_Mutation_p.A504T|ACHE_ENST00000302913.4_Missense_Mutation_p.A504T|ACHE_ENST00000419336.2_Missense_Mutation_p.A416T			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	504					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)	p.A504T(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	AGTCGCTGGGCGAAGATTTTC	0.627																																						uc003uxd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)	2						c.(1510-1512)GCC>ACC		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						50.0	49.0	49.0					7																	100489998		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100489998C>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1510G>A	7.37:g.100489998C>T	ENSP00000394976:p.Ala504Thr					UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.A504T|ACHE_uc003uxf.2_Missense_Mutation_p.A504T|ACHE_uc003uxg.2_Missense_Mutation_p.A504T|ACHE_uc003uxh.2_Missense_Mutation_p.A416T|ACHE_uc003uxi.2_Missense_Mutation_p.A504T	p.A504T	NM_000665	NP_000656	P22303	ACES_HUMAN			2	1666	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		504					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.1510G>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198927	0.38806	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	3.81	2.91	0.33838	Carboxylesterase, type B (1);	0.186682	0.43579	N	0.000553	T	0.55321	0.1913	L	0.33245	0.995	0.34321	D	0.686545	B;D;D	0.60160	0.296;0.987;0.962	B;P;P	0.46718	0.009;0.525;0.506	T	0.66048	-0.6020	10	0.66056	D	0.02	.	6.0607	0.19837	0.0:0.7622:0.0:0.2378	.	416;504;504	P22303-3;P22303-2;P22303	.;.;ACES_HUMAN	T	416;504;504;504;504;504;504	ENSP00000403474:A416T;ENSP00000241069:A504T;ENSP00000414858:A504T;ENSP00000303211:A504T;ENSP00000394976:A504T;ENSP00000404865:A504T	ENSP00000241069:A504T	A	-	1	0	ACHE	100327934	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	4.300000	0.59079	0.933000	0.37291	0.491000	0.48974	GCC		0.627	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1		NM_015831		13	80	0	0	0	0.132662	0	13	80		
TAS2R16	50833	broad.mit.edu	37	7	122635518	122635518	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:122635518G>A	ENST00000249284.2	-	1	236	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	57					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.F57F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTGTAGACAGAAGCGAGAGA	0.428																																						uc003vkl.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(169-171)TTC>TTT		taste receptor T2R16							66.0	64.0	65.0					7																	122635518		2203	4300	6503	SO:0001819	synonymous_variant	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635518G>A	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.171C>T	7.37:g.122635518G>A							p.F57F	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	237	-			57			Helical; Name=2; (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	c.171C>T	CCDS5785.1																																																																																				0.428	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1		NM_016945		25	73	0	0	0	0.083992	0	25	73		
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000409469.1_Missense_Mutation_p.E485K|CUL1_ENST00000602748.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458																																						uc010lpg.2		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|lung(1)|central_nervous_system(1)	lung(1)	1						c.(1453-1455)GAA>AAA		cullin 1							80.0	73.0	76.0					7																	148484186		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148484186G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1453G>A	7.37:g.148484186G>A	ENSP00000326804:p.Glu485Lys					CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K	p.E485K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		13	1979	+	Melanoma(164;0.15)		485					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1453G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288263	0.95517	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86865	-2.18;-2.18	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.047140	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96814	0.9599	10	0.87932	D	0	-0.8542	19.4118	0.94677	0.0:0.0:1.0:0.0	.	412;485	E7EWR0;Q13616	.;CUL1_HUMAN	K	485;485;443;412	ENSP00000387160:E485K;ENSP00000326804:E485K	ENSP00000326804:E485K	E	+	1	0	CUL1	148115119	1.000000	0.71417	0.913000	0.36048	0.576000	0.36127	9.497000	0.97970	2.595000	0.87683	0.655000	0.94253	GAA		0.458	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1		NM_003592		30	72	0	0	0	0.134883	0	30	72		
MTMR9	66036	broad.mit.edu	37	8	11172556	11172556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:11172556G>T	ENST00000221086.3	+	7	1569	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	MTMR9_ENST00000526292.1_Nonsense_Mutation_p.E281*|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	366	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)	p.E366*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GGCCCTGATTGAAAGAGAGTG	0.488																																						uc003wtm.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1096-1098)GAA>TAA		myotubularin related protein 9							164.0	145.0	152.0					8																	11172556		2203	4300	6503	SO:0001587	stop_gained	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11172556G>T	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1096G>T	8.37:g.11172556G>T	ENSP00000221086:p.Glu366*					MTMR9_uc010lrx.2_Nonsense_Mutation_p.E259*|MTMR9_uc011kxa.1_Nonsense_Mutation_p.E281*	p.E366*	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	7	1494	+			366			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Nonsense_Mutation	SNP	ENST00000221086.3	37	c.1096G>T	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	G	39	7.739518	0.98462	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	.	.	.	5.05	5.05	0.67936	.	0.047337	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.57	0.87932	0.0:0.0:1.0:0.0	.	.	.	.	X	366;281	.	ENSP00000221086:E366X	E	+	1	0	MTMR9	11209966	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.519000	0.98025	2.610000	0.88304	0.563000	0.77884	GAA		0.488	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2		NM_015458		25	125	1	0	6.38683e-12	0.134883	6.98849e-12	25	125		
INTS9	55756	broad.mit.edu	37	8	28651378	28651378	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:28651378A>G	ENST00000521022.1	-	10	1064	c.983T>C	c.(982-984)tTc>tCc	p.F328S	INTS9_ENST00000397363.4_Missense_Mutation_p.F222S|INTS9_ENST00000416984.2_Missense_Mutation_p.F307S|INTS9_ENST00000521777.1_Missense_Mutation_p.F304S	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	328					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.F328S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGGGGAGATGAAGTAGAGGGG	0.468																																						uc003xha.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|pancreas(1)	2						c.(982-984)TTC>TCC		integrator complex subunit 9 isoform 1							82.0	82.0	82.0					8																	28651378		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28651378A>G	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.983T>C	8.37:g.28651378A>G	ENSP00000429065:p.Phe328Ser					INTS9_uc011lav.1_Missense_Mutation_p.F304S|INTS9_uc011law.1_Missense_Mutation_p.F307S|INTS9_uc011lax.1_Missense_Mutation_p.F221S|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.F328S	p.F328S	NM_018250	NP_060720	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	10	1282	-		Ovarian(32;0.0439)	328					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.983T>C	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.037704	0.93630	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363;ENST00000523436	T;T;T;T;T	0.53423	0.67;0.66;0.67;0.66;0.62	5.87	5.87	0.94306	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.994	D;P;D	0.85130	0.997;0.878;0.96	T	0.78229	-0.2285	10	0.87932	D	0	-37.1404	14.8516	0.70300	1.0:0.0:0.0:0.0	.	307;328;328	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	S	328;307;172;304;222;283	ENSP00000429065:F328S;ENSP00000398208:F307S;ENSP00000430943:F304S;ENSP00000380520:F222S;ENSP00000427789:F283S	ENSP00000380520:F222S	F	-	2	0	INTS9	28707297	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.339000	0.96797	2.248000	0.74166	0.533000	0.62120	TTC		0.468	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1		NM_018250		7	110	0	0	0	0.02938	0	7	110		
GSR	2936	broad.mit.edu	37	8	30537169	30537169	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:30537169C>T	ENST00000221130.5	-	13	1527	c.1437G>A	c.(1435-1437)atG>atA	p.M479I	GSR_ENST00000414019.1_Missense_Mutation_p.M436I|GSR_ENST00000546342.1_Missense_Mutation_p.M450I|GSR_ENST00000541648.1_Missense_Mutation_p.M426I|GSR_ENST00000537535.1_Missense_Mutation_p.M397I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	479					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.M479I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CAAGTCCCTGCATATGGATCC	0.443																																						uc003xih.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1435-1437)ATG>ATA		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						126.0	111.0	116.0					8																	30537169		2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30537169C>T		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1437G>A	8.37:g.30537169C>T	ENSP00000221130:p.Met479Ile						p.M479I	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	13	1528	-			479					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.1437G>A	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	C	8.752	0.921416	0.17982	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86	5.34	5.34	0.76211	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	N	0.12471	0.22	0.80722	D	1	B	0.19331	0.035	B	0.22880	0.042	T	0.78957	-0.1999	10	0.44086	T	0.13	-13.6622	16.904	0.86120	0.0:1.0:0.0:0.0	.	479	P00390	GSHR_HUMAN	I	479;436;450;426;397	ENSP00000221130:M479I;ENSP00000390065:M436I;ENSP00000445516:M450I;ENSP00000444559:M426I;ENSP00000438845:M397I	ENSP00000221130:M479I	M	-	3	0	GSR	30656711	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.174000	0.77620	2.673000	0.90976	0.555000	0.69702	ATG		0.443	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1				8	89	0	0	0	0.038147	0	8	89		
ANK1	286	broad.mit.edu	37	8	41581117	41581117	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr8:41581117C>T	ENST00000347528.4	-	8	829	c.746G>A	c.(745-747)aGg>aAg	p.R249K	ANK1_ENST00000352337.4_Missense_Mutation_p.R249K|ANK1_ENST00000265709.8_Missense_Mutation_p.R282K|ANK1_ENST00000379758.2_Missense_Mutation_p.R249K|ANK1_ENST00000396942.1_Missense_Mutation_p.R249K|ANK1_ENST00000396945.1_Missense_Mutation_p.R249K|ANK1_ENST00000289734.7_Missense_Mutation_p.R249K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	249	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R249K(1)|p.R282K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACGTTGCCCCTGCGGGAGGC	0.637																																						uc003xok.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(745-747)AGG>AAG		ankyrin 1 isoform 1							108.0	78.0	88.0					8																	41581117		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41581117C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.746G>A	8.37:g.41581117C>T	ENSP00000339620:p.Arg249Lys					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R249K|ANK1_uc003xoj.2_Missense_Mutation_p.R249K|ANK1_uc003xol.2_Missense_Mutation_p.R249K|ANK1_uc003xom.2_Missense_Mutation_p.R282K	p.R249K	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		8	830	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	249			ANK 7.|89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.746G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146887	0.94603	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.51	5.51	0.81932	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	N	0.16743	0.435	0.80722	D	1	D;D;P;D;D	0.71674	0.998;0.998;0.744;0.997;0.998	D;D;B;D;D	0.85130	0.997;0.995;0.304;0.919;0.997	T	0.59952	-0.7357	10	0.12766	T	0.61	.	19.4035	0.94640	0.0:1.0:0.0:0.0	.	282;249;249;249;249	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	K	249;249;249;249;249;249;282;249	ENSP00000339620:R249K;ENSP00000289734:R249K;ENSP00000369082:R249K;ENSP00000380149:R249K;ENSP00000380147:R249K;ENSP00000309131:R249K;ENSP00000265709:R282K	ENSP00000265709:R282K	R	-	2	0	ANK1	41700274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.092000	0.71414	2.586000	0.87340	0.561000	0.74099	AGG		0.637	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		NM_020475		4	107	0	0	0	0.150653	0	4	107		
DNM1	1759	broad.mit.edu	37	9	130986561	130986561	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr9:130986561G>C	ENST00000372923.3	+	10	1320	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	DNM1_ENST00000393594.3_Intron|DNM1_ENST00000486160.1_Intron|DNM1_ENST00000341179.7_Missense_Mutation_p.E410Q|DNM1_ENST00000475805.1_Intron	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	410					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.E410Q(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CATGGCCTTTGAGACCATTGT	0.577																																					GBM(113;146 1575 2722 28670 29921)	uc011mau.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1228-1230)GAG>CAG		dynamin 1 isoform 1							130.0	115.0	120.0					9																	130986561		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130986561G>C	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1228G>C	9.37:g.130986561G>C	ENSP00000362014:p.Glu410Gln					DNM1_uc010mxr.2_Intron|DNM1_uc011mat.1_Missense_Mutation_p.E410Q	p.E410Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN			10	1315	+			410					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1228G>C	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245957	0.95272	.	.	ENSG00000106976	ENST00000341179;ENST00000372923;ENST00000393589	T;T	0.77229	-1.08;-1.08	5.48	5.48	0.80851	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.91865	0.7425	M	0.94142	3.5	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.994	D	0.93765	0.7070	10	0.87932	D	0	-11.7797	19.3611	0.94438	0.0:0.0:1.0:0.0	.	410;410	Q05193;Q05193-3	DYN1_HUMAN;.	Q	410;410;405	ENSP00000345680:E410Q;ENSP00000362014:E410Q	ENSP00000345680:E410Q	E	+	1	0	DNM1	130026382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.570000	0.86706	0.555000	0.69702	GAG		0.577	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1		NM_004408		9	115	0	0	0	0.09319	0	9	115		
COL5A1	1289	broad.mit.edu	37	9	137664657	137664657	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr9:137664657C>T	ENST00000371817.3	+	26	2722	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	770	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P770S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAAGAAGGCCCTCCAGGAGA	0.607																																						uc004cfe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2308-2310)CCT>TCT		alpha 1 type V collagen preproprotein							100.0	104.0	102.0					9																	137664657		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137664657C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2308C>T	9.37:g.137664657C>T	ENSP00000360882:p.Pro770Ser						p.P770S	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	26	2690	+		Myeloproliferative disorder(178;0.0341)	770			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2308C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576712	0.45902	.	.	ENSG00000130635	ENST00000371817	D	0.96802	-4.13	4.64	3.74	0.42951	.	0.000000	0.85682	U	0.000000	D	0.93278	0.7858	L	0.52126	1.63	0.39019	D	0.959704	B	0.16603	0.018	B	0.16722	0.016	D	0.90012	0.4122	10	0.48119	T	0.1	.	8.6841	0.34227	0.0:0.8921:0.0:0.1079	.	770	P20908	CO5A1_HUMAN	S	770	ENSP00000360882:P770S	ENSP00000360882:P770S	P	+	1	0	COL5A1	136804478	1.000000	0.71417	0.706000	0.30403	0.995000	0.86356	3.951000	0.56684	0.928000	0.37168	0.655000	0.94253	CCT		0.607	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		11	131	0	0	0	0.11911	0	11	131		
DDX53	168400	broad.mit.edu	37	X	23019072	23019072	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:23019072C>A	ENST00000327968.5	+	1	986	c.898C>A	c.(898-900)Cta>Ata	p.L300I	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	300	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.L300I(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GCCTGGGATGCTAGTCCTTAC	0.418																																						uc004daj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(898-900)CTA>ATA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							79.0	78.0	78.0					X																	23019072		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019072C>A	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.898C>A	X.37:g.23019072C>A	ENSP00000368667:p.Leu300Ile						p.L300I	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	986	+			300			Helicase ATP-binding.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.898C>A	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245965	0.22796	.	.	ENSG00000184735	ENST00000327968	T	0.10668	2.85	3.92	2.13	0.27403	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000003	T	0.25791	0.0628	M	0.71920	2.185	0.44492	D	0.997438	D	0.76494	0.999	D	0.91635	0.999	T	0.00839	-1.1545	10	0.87932	D	0	-11.1814	5.6053	0.17377	0.0:0.6301:0.0:0.3699	.	300	Q86TM3	DDX53_HUMAN	I	300	ENSP00000368667:L300I	ENSP00000368667:L300I	L	+	1	2	DDX53	22928993	1.000000	0.71417	0.053000	0.19242	0.009000	0.06853	0.524000	0.22940	0.302000	0.22762	-0.208000	0.12717	CTA		0.418	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1		NM_182699		4	64	1	0	3.59834e-05	0.021553	3.74723e-05	4	64		
DDX53	168400	broad.mit.edu	37	X	23019219	23019219	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:23019219A>T	ENST00000327968.5	+	1	1133	c.1045A>T	c.(1045-1047)Att>Ttt	p.I349F	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	349	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.I349F(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TGTAGATATCATTATTGCAAC	0.353																																						uc004daj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(1045-1047)ATT>TTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							78.0	72.0	74.0					X																	23019219		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019219A>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1045A>T	X.37:g.23019219A>T	ENSP00000368667:p.Ile349Phe						p.I349F	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1133	+			349			Helicase ATP-binding.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1045A>T	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836655	0.32421	.	.	ENSG00000184735	ENST00000327968	T	0.16196	2.36	4.3	1.53	0.23141	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.060413	0.64402	D	0.000004	T	0.42268	0.1195	M	0.90977	3.165	0.40707	D	0.982535	D	0.89917	1.0	D	0.75484	0.986	T	0.33317	-0.9873	10	0.87932	D	0	-13.4717	5.0446	0.14477	0.5316:0.0:0.4684:0.0	.	349	Q86TM3	DDX53_HUMAN	F	349	ENSP00000368667:I349F	ENSP00000368667:I349F	I	+	1	0	DDX53	22929140	0.995000	0.38212	0.066000	0.19879	0.002000	0.02628	1.144000	0.31565	0.474000	0.27392	-0.360000	0.07572	ATT		0.353	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1		NM_182699		4	84	0	0	0	0.021553	0	4	84		
MED12	9968	broad.mit.edu	37	X	70339981	70339981	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:70339981G>C	ENST00000374080.3	+	4	546	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	MED12_ENST00000374102.1_Missense_Mutation_p.E172Q|MED12_ENST00000333646.6_Missense_Mutation_p.E172Q			Q93074	MED12_HUMAN	mediator complex subunit 12	172					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E172Q(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGCAATCTCTGAGACCAAGGT	0.488			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(514-516)GAG>CAG		mediator complex subunit 12							118.0	112.0	114.0					X																	70339981		2039	4166	6205	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70339981G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.514G>C	X.37:g.70339981G>C	ENSP00000363193:p.Glu172Gln					MED12_uc011mpq.1_Missense_Mutation_p.E172Q|MED12_uc004dyz.2_Missense_Mutation_p.E172Q|MED12_uc004dza.2_Missense_Mutation_p.E19Q	p.E172Q	NM_005120	NP_005111	Q93074	MED12_HUMAN			4	713	+	Renal(35;0.156)		172					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.514G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.595949	0.86953	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.59906	0.24;0.25;0.24;0.23	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.75384	0.3842	M	0.74647	2.275	0.54753	D	0.999985	P;D;P;P	0.63880	0.823;0.993;0.941;0.885	B;D;P;B	0.72982	0.395;0.979;0.747;0.333	T	0.78625	-0.2131	10	0.72032	D	0.01	-22.923	15.7853	0.78297	0.0:0.0:1.0:0.0	.	172;19;172;172	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	172;172;172;172;140	ENSP00000333125:E172Q;ENSP00000363215:E172Q;ENSP00000363193:E172Q;ENSP00000414203:E140Q	ENSP00000333125:E172Q	E	+	1	0	MED12	70256706	1.000000	0.71417	0.937000	0.37676	0.952000	0.60782	9.381000	0.97205	2.348000	0.79779	0.600000	0.82982	GAG		0.488	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		27	53	0	0	0	0.125774	0	27	53		
PHF6	84295	broad.mit.edu	37	X	133512098	133512098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:133512098G>T	ENST00000332070.3	+	3	404	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	PHF6_ENST00000370799.1_Nonsense_Mutation_p.E68*|PHF6_ENST00000370803.3_Nonsense_Mutation_p.E68*|PHF6_ENST00000370800.4_Nonsense_Mutation_p.E68*|PHF6_ENST00000394292.1_Nonsense_Mutation_p.E68*|PHF6_ENST00000416404.2_Intron	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	68	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E68*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCTATTGAAGATGTCCA	0.299			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	uc004exj.2		NaN		Rec	yes		X	Xq26.3	84295		PHD finger protein 6			L					2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)	1						c.(202-204)GAA>TAA		PHD finger protein 6 isoform 1							66.0	70.0	69.0					X																	133512098		2202	4292	6494	SO:0001587	stop_gained	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133512098G>T	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.202G>T	X.37:g.133512098G>T	ENSP00000329097:p.Glu68*					PHF6_uc004exk.2_Nonsense_Mutation_p.E68*|PHF6_uc011mvk.1_Intron|PHF6_uc004exh.2_Nonsense_Mutation_p.E68*|PHF6_uc010nrr.2_Nonsense_Mutation_p.E68*|PHF6_uc004exi.2_Nonsense_Mutation_p.E68*	p.E68*	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN			3	404	+	Acute lymphoblastic leukemia(192;0.000127)		68					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Nonsense_Mutation	SNP	ENST00000332070.3	37	c.202G>T	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	39	7.328610	0.98214	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000370800	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-25.9377	17.8941	0.88881	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000329097:E68X	E	+	1	0	PHF6	133339764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.979000	0.93455	2.533000	0.85409	0.544000	0.68410	GAA		0.299	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1		NM_032458		17	48	1	0	7.41877e-09	0.062417	7.94565e-09	17	48		
MAGEA1	4100	broad.mit.edu	37	X	152482885	152482885	+	Silent	SNP	G	G	A			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chrX:152482885G>A	ENST00000356661.5	-	3	344	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	42					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)	p.T42T(1)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCCAGGGTGCCCAGGA	0.627																																						uc004fhf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10						c.(124-126)ACC>ACT		melanoma antigen family A, 1							66.0	75.0	72.0					X																	152482885		2203	4300	6503	SO:0001819	synonymous_variant	4100					cytoplasm|plasma membrane		g.chrX:152482885G>A		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.126C>T	X.37:g.152482885G>A							p.T42T	NM_004988	NP_004979	P43355	MAGA1_HUMAN			3	346	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		42					B2RC81|O00346	Silent	SNP	ENST00000356661.5	37	c.126C>T	CCDS14720.1																																																																																				0.627	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1		NM_004988		39	109	0	0	0	0.074837	0	39	109		
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		2	Deletion - Frameshift(2)		haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(16-18)CCCfs		notch 2 preproprotein																																				SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs					NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	p.P6fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	273_274	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		6	12	NaN	NaN	NaN	NaN	NaN	6	12	---	---
TRIM67	440730	broad.mit.edu	37	1	231349602	231349603	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr1:231349602_231349603insCCAC	ENST00000366653.5	+	9	2165_2166	c.2165_2166insCCAC	c.(2164-2169)ctgctgfs	p.L723fs	TRIM67_ENST00000366652.2_Frame_Shift_Ins_p.L723fs|TRIM67_ENST00000444294.3_Frame_Shift_Ins_p.L721fs|TRIM67_ENST00000449018.3_Frame_Shift_Ins_p.L661fs			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	723	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGGGCGTGCTGCTGGACCTGA	0.614																																						uc009xfn.1		NaN																	0				ovary(2)|breast(1)|kidney(1)	4						c.(2164-2166)CTGfs		tripartite motif-containing 67																																				SO:0001589	frameshift_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231349602_231349603insCCAC	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	Exception_encountered	1.37:g.231349602_231349603insCCAC	ENSP00000355613:p.Leu723fs						p.L722fs	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			9	2207_2208	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	722			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Frame_Shift_Ins	INS	ENST00000366653.5	37	c.2165_2166insCCAC	CCDS44333.1																																																																																				0.614	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3		NM_001004342		9	200	NaN	NaN	NaN	NaN	NaN	9	200	---	---
KIAA0100	9703	broad.mit.edu	37	17	26971195	26971201	+	Frame_Shift_Del	DEL	CCACAAG	CCACAAG	-	rs559279621		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr17:26971195_26971201delCCACAAG	ENST00000528896.2	-	2	147_153	c.73_79delCTTGTGG	c.(73-81)cttgtggtcfs	p.LVV25fs	KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	25						extracellular region (GO:0005576)		p.V26M(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCCAACCGGACCACAAGCCACCTGCAG	0.483											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hbu.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(2)|breast(1)|skin(1)	4						c.(73-81)CTTGTGGTCfs		hypothetical protein LOC9703 precursor																																				SO:0001589	frameshift_variant	9703					extracellular region		g.chr17:26971195_26971201delCCACAAG	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.73_79delCTTGTGG	17.37:g.26971195_26971201delCCACAAG	ENSP00000436773:p.Leu25fs		OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	KIAA0100_uc002hbv.2_Frame_Shift_Del_p.L25fs|KIAA0100_uc010crr.1_5'UTR	p.L25fs	NM_014680	NP_055495	Q14667	K0100_HUMAN			2	172_178	-	Lung NSC(42;0.00431)		25_27					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Frame_Shift_Del	DEL	ENST00000528896.2	37	c.73_79delCTTGTGG	CCDS32595.1																																																																																				0.483	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		7	116	NaN	NaN	NaN	NaN	NaN	7	116	---	---
FEZ2	9637	broad.mit.edu	37	2	36805997	36805998	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr2:36805997_36805998delGC	ENST00000405912.3	-	5	644_645	c.645_646delGC	c.(643-648)aggctcfs	p.RL215fs	FEZ2_ENST00000379245.4_Frame_Shift_Del_p.RL215fs|FEZ2_ENST00000305852.7_Frame_Shift_Del_p.RL44fs	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	215					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GACACTGAGAGCCTTTTCACTC	0.396																																						uc002rph.2		NaN																	0				ovary(1)	1						c.(643-648)AGGCTCfs		zygin 2 isoform 1																																				SO:0001589	frameshift_variant	9637				axon guidance|signal transduction		protein binding	g.chr2:36805997_36805998delGC	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.645_646delGC	2.37:g.36805997_36805998delGC	ENSP00000385112:p.Arg215fs					FEZ2_uc002rpe.2_Frame_Shift_Del_p.R44fs|FEZ2_uc002rpf.2_Frame_Shift_Del_p.R44fs|FEZ2_uc002rpg.2_Frame_Shift_Del_p.R215fs|FEZ2_uc002rpi.2_Frame_Shift_Del_p.R70fs|FEZ2_uc002rpj.2_Frame_Shift_Del_p.R215fs	p.R215fs	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN			5	692_693	-		all_hematologic(82;0.21)	215_216			Potential.		Q5EBN3|Q76LN0|Q99690	Frame_Shift_Del	DEL	ENST00000405912.3	37	c.645_646delGC	CCDS46257.1																																																																																				0.396	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1				14	80	NaN	NaN	NaN	NaN	NaN	14	80	---	---
HLA-A	3105	broad.mit.edu	37	6	29910346	29910346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr6:29910346delC	ENST00000396634.1	+	3	357	c.16delC	c.(16-18)cccfs	p.P6fs	HLA-A_ENST00000376809.5_Frame_Shift_Del_p.P6fs|HLA-A_ENST00000376806.5_Frame_Shift_Del_p.P6fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.P6fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	6					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGTCATGGCGCCCCGAACCCT	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(16-18)CCCfs		major histocompatibility complex, class I, A							35.0	37.0	37.0					6																	29910346		2200	4296	6496	SO:0001589	frameshift_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910346delC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.16delC	6.37:g.29910346delC	ENSP00000379873:p.Pro6fs	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Frame_Shift_Del_p.P6fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.P6fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.P6fs|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank	p.P6fs	NM_002116	NP_002107	P30443	1A01_HUMAN			1	16	+			6					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	ENST00000396634.1	37	c.16delC	CCDS34373.1																																																																																				0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116		12	115	NaN	NaN	NaN	NaN	NaN	12	115	---	---
GIGYF1	64599	broad.mit.edu	37	7	100280314	100280315	+	Frame_Shift_Ins	INS	-	-	C	rs201075699		TCGA-CU-A0YO-01A-11D-A10S-08	TCGA-CU-A0YO-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e80278f9-2059-4e98-92b2-3e9868fc5818	1a1db5dc-c338-4de0-aea2-20e78cb094b3	g.chr7:100280314_100280315insC	ENST00000275732.5	-	20	3707_3708	c.2498_2499insG	c.(2497-2499)ggcfs	p.G833fs	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	833					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTGCTGCCGCCCCCACTCTT	0.693																																						uc003uwg.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2497-2499)GGCfs		PERQ amino acid rich, with GYF domain 1																																				SO:0001589	frameshift_variant	64599							g.chr7:100280314_100280315insC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2499dupG	7.37:g.100280319_100280319dupC	ENSP00000275732:p.Gly833fs						p.G833fs	NM_022574	NP_072096	O75420	PERQ1_HUMAN			20	3507_3508	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		833					Q6Y7W7|Q8WZ38	Frame_Shift_Ins	INS	ENST00000275732.5	37	c.2498_2499insG	CCDS34708.1																																																																																				0.693	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574		7	45	NaN	NaN	NaN	NaN	NaN	7	45	---	---
